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 DNM2 1785 broad.mit.edu 37 19 10934516 10934516 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:10934516G>A ENST00000314646.5 + 17 1998 c.1834G>A c.(1834-1836)Gac>Aac p.D612N DNM2_ENST00000355667.6_Missense_Mutation_p.D612N|DNM2_ENST00000359692.6_Missense_Mutation_p.D608N|DNM2_ENST00000585892.1_Missense_Mutation_p.D612N|DNM2_ENST00000408974.4_Missense_Mutation_p.D608N|DNM2_ENST00000389253.4_Missense_Mutation_p.D612N P50570 DYN2_HUMAN dynamin 2 612 PH. G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) CTCCCAGGAAGACGTGGACAG 0.667000 """F, N, Splice, Mis, O""" ETP ALL 39 52 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20257987 20257987 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:20257987G>C ENST00000245957.5 + 22 2757 c.2681G>C c.(2680-2682)gGa>gCa p.G894A C20orf26_ENST00000377309.2_Missense_Mutation_p.G250A NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 894 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) GGAGCCGCCGGAGTCACTATG 0.652000 28 58 0 0 1 0 0 POU6F1 5463 broad.mit.edu 37 12 51586207 51586207 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:51586207G>A ENST00000389243.4 - 9 1236 c.297C>T c.(295-297)gtC>gtT p.V99V POU6F1_ENST00000333640.10_Silent_p.V99V|POU6F1_ENST00000550824.1_Silent_p.V99V Q14863 PO6F1_HUMAN POU class 6 homeobox 1 99 Gln/Pro-rich. brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 11 GGCTGGCAATGACCACAGCAG 0.607000 50 147 0 0 1 0 0 BTN1A1 696 broad.mit.edu 37 6 26505305 26505305 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:26505305C>G ENST00000244513.6 + 3 646 c.580C>G c.(580-582)Cct>Gct p.P194A NM_001732.2 NP_001723.2 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 194 Ig-like V-type 2. extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 GTCCAGGAATCCTGATGAAGA 0.502000 88 6 0 0 1 0 0 COL18A1 80781 broad.mit.edu 37 21 46876059 46876059 + Silent SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr21:46876059C>G ENST00000359759.4 + 1 636 c.615C>G c.(613-615)ctC>ctG p.L205L COL18A1_ENST00000355480.5_Silent_p.L205L|COL18A1_ENST00000400337.2_Intron P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 205 cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GGGCACCACTCACGGGGCCCT 0.687000 18 52 0 0 1 0 0 SLC35A1 10559 broad.mit.edu 37 6 88210332 88210332 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:88210332C>G ENST00000369552.4 + 3 328 c.301C>G c.(301-303)Cag>Gag p.Q101E SLC35A1_ENST00000544441.1_Intron|SLC35A1_ENST00000464978.1_3'UTR|SLC35A1_ENST00000369557.5_Missense_Mutation_p.Q101E|C6orf165_ENST00000506888.1_3'UTR|SLC35A1_ENST00000369556.3_Missense_Mutation_p.Q101E NM_006416.4 NP_006407.1 P78382 S35A1_HUMAN solute carrier family 35 (CMP-sialic acid transporter), member A1 101 carbohydrate metabolic process|protein modification process Golgi membrane|integral to plasma membrane CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity breast(1)|kidney(3)|large_intestine(2)|lung(3) 9 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0429) GTATGCTGTTCAGAACAACAT 0.413000 30 23 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544994 23544994 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:23544994C>G ENST00000300619.7 - 4 992 c.787G>C c.(787-789)Gag>Cag p.E263Q ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.E231Q NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 263 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TAGATTTTCTCTTTAGCACAG 0.378000 29 42 0 0 1 0 0 ZNF207 7756 broad.mit.edu 37 17 30678846 30678846 + Missense_Mutation SNP A A G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:30678846A>G ENST00000394670.4 + 2 252 c.83A>G c.(82-84)cAg>cGg p.Q28R ZNF207_ENST00000321233.6_Missense_Mutation_p.Q28R|ZNF207_ENST00000341711.6_Missense_Mutation_p.Q28R|ZNF207_ENST00000342555.6_Missense_Mutation_p.Q31R|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000394673.2_Missense_Mutation_p.Q28R|ZNF207_ENST00000577908.1_Missense_Mutation_p.Q28R NM_001098507.1 NP_001091977.1 O43670 ZN207_HUMAN zinc finger protein 207 28 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2) 10 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) ATCCTTATTCAGCACCAAAAA 0.343000 38 47 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54783526 54783526 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chrX:54783526G>T ENST00000218436.6 - 8 3010 c.2981C>A c.(2980-2982)cCt>cAt p.P994H NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 994 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity GATGGCCTCAGGGAGGATGCT 0.547000 18 22 1.00905e-13 1.06783e-13 1 1 0 MOGS 7841 broad.mit.edu 37 2 74689864 74689864 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:74689864C>G ENST00000233616.4 - 4 1214 c.1052G>C c.(1051-1053)aGa>aCa p.R351T MOGS_ENST00000452063.2_Missense_Mutation_p.R245T|MOGS_ENST00000409065.1_3'UTR NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 351 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 GCCTGCCAGTCTTGGCAGGGC 0.532000 69 93 0 0 1 0 0 BCOR 54880 broad.mit.edu 37 X 39930340 39930340 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chrX:39930340C>T ENST00000342274.4 - 6 3486 c.3124G>A c.(3124-3126)Gag>Aag p.E1042K BCOR_ENST00000378455.4_Missense_Mutation_p.E1024K|BCOR_ENST00000397354.3_Missense_Mutation_p.E1042K|BCOR_ENST00000378444.4_Missense_Mutation_p.E1042K NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 1042 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 TTGCACATCTCGGAGTCTTTG 0.488000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 30 2 0 0 1 0 0 CASP14 23581 broad.mit.edu 37 19 15164702 15164702 + Silent SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:15164702G>T ENST00000427043.3 + 4 644 c.336G>T c.(334-336)ctG>ctT p.L112L CASP14_ENST00000221740.1_Silent_p.L112L NM_012114.2 NP_036246.1 P31944 CASPE_HUMAN caspase 14, apoptosis-related cysteine peptidase 112 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3) 26 TCGAGGCCCTGAACAACAAGA 0.562000 29 48 3.11337e-16 3.33248e-16 1 1 0 SMARCC2 6601 broad.mit.edu 37 12 56572315 56572315 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:56572315C>G ENST00000394023.3 - 14 1288 c.1183G>C c.(1183-1185)Gag>Cag p.E395Q SMARCC2_ENST00000550164.1_Missense_Mutation_p.E395Q|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.E395Q|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E395Q NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 395 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TTCTCATCCTCATCCTACGAG 0.527000 77 45 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98522777 98522777 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:98522777G>A ENST00000359863.4 + 22 3075 c.2866G>A c.(2866-2868)Gag>Aag p.E956K TRRAP_ENST00000355540.3_Missense_Mutation_p.E956K|TRRAP_ENST00000446306.3_Missense_Mutation_p.E955K NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 956 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CGCCAACACTGAGCCCTACTA 0.507000 44 68 0 0 1 0 0 MAP3K5 4217 broad.mit.edu 37 6 136882784 136882784 + Splice_Site SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:136882784C>T ENST00000359015.4 - 28 4235 c.e28-1 MAP3K5_ENST00000355845.4_Splice_Site NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) TCAGGAATTTCTAGAACAGAA 0.358000 9 15 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164733762 164733762 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:164733762C>T ENST00000264382.3 - 32 3928 c.3866G>A c.(3865-3867)gGa>gAa p.G1289E NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1289 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GTATCTCATTCCTTCTCCTCT 0.403000 HNSCC(35;0.089) 17 69 0 0 1 0 0 ST8SIA1 6489 broad.mit.edu 37 12 22408294 22408294 + Missense_Mutation SNP T T A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:22408294T>A ENST00000396037.4 - 3 892 c.411A>T c.(409-411)aaA>aaT p.K137N ST8SIA1_ENST00000539510.1_Intron NM_003034.3 NP_003025.1 Q92185 SIA8A_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 137 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 CCACCGCGCATTTCTTCAATG 0.478000 108 107 0 0 1 0 0 USP8 9101 broad.mit.edu 37 15 50757369 50757369 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:50757369G>A ENST00000433963.1 + 8 1167 c.667G>A c.(667-669)Gaa>Aaa p.E223K USP8_ENST00000396444.3_Missense_Mutation_p.E223K|USP8_ENST00000425032.3_Missense_Mutation_p.E146K|USP8_ENST00000307179.4_Missense_Mutation_p.E223K P40818 UBP8_HUMAN ubiquitin specific peptidase 8 223 Rhodanese. cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) CAGTGTTCCTGAAGAAGCCAT 0.378000 21 63 0 0 1 0 0 BMP6 654 broad.mit.edu 37 6 7727750 7727750 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:7727750C>T ENST00000283147.6 + 1 721 c.562C>T c.(562-564)Ctg>Ttg p.L188L NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 188 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) CAAGAGCCTTCTGGCCCCCGG 0.711000 13 23 0 0 1 0 0 MUM1 84939 broad.mit.edu 37 19 1360523 1360523 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:1360523G>C ENST00000311401.5 + 5 785 c.399G>C c.(397-399)gaG>gaC p.E133D MUM1_ENST00000415183.3_Missense_Mutation_p.E202D|MUM1_ENST00000344663.3_Missense_Mutation_p.E202D|MUM1_ENST00000591806.1_Missense_Mutation_p.E202D Q2TAK8 MUM1_HUMAN melanoma associated antigen (mutated) 1 201 chromatin organization|DNA repair nucleus nucleosome binding|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCAAGATGAGAGTGGGTCCA 0.537000 OREG0025088 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 15 0 0 1 0 0 L2HGDH 79944 broad.mit.edu 37 14 50735964 50735964 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:50735964C>G ENST00000267436.4 - 7 1220 c.823G>C c.(823-825)Gat>Cat p.D275H L2HGDH_ENST00000421284.3_Missense_Mutation_p.D275H|L2HGDH_ENST00000261699.4_Missense_Mutation_p.D275H Q9H9P8 L2HDH_HUMAN L-2-hydroxyglutarate dehydrogenase 275 2-oxoglutarate metabolic process|cellular protein metabolic process integral to mitochondrial inner membrane 2-hydroxyglutarate dehydrogenase activity kidney(1)|large_intestine(4)|lung(3)|ovary(2) 10 all_epithelial(31;0.000599)|Breast(41;0.0102) ATTCGAGGATCAGGAGTGCAG 0.408000 52 72 0 0 1 0 0 POLN 353497 broad.mit.edu 37 4 2172884 2172884 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:2172884C>G ENST00000511885.2 - 12 1752 c.1399G>C c.(1399-1401)Gaa>Caa p.E467Q POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Missense_Mutation_p.E467Q Q7Z5Q5 DPOLN_HUMAN polymerase (DNA directed) nu 467 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) AAATGAGCTTCTTGCTCCAAT 0.323000 DNA polymerases (catalytic subunits) 34 18 0 0 1 0 0 SNAP29 9342 broad.mit.edu 37 22 21213633 21213633 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:21213633G>A ENST00000215730.7 + 1 363 c.235G>A c.(235-237)Gag>Aag p.E79K NM_004782.3 NP_004773.1 O95721 SNP29_HUMAN synaptosomal-associated protein, 29kDa cellular membrane fusion|exocytosis|protein transport|vesicle targeting cell junction|cytoplasm|nucleus|synapse|synaptosome SNAP receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1) 9 all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117) CGCCTCTTCCGAGGTGAGCCT 0.612000 27 44 0 0 1 0 0 CAMTA2 23125 broad.mit.edu 37 17 4876991 4876991 + Nonsense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:4876991C>T ENST00000361571.5 - 12 2498 c.2087G>A c.(2086-2088)tGg>tAg p.W696* CAMTA2_ENST00000348066.3_Nonsense_Mutation_p.W697*|CAMTA2_ENST00000572543.1_Nonsense_Mutation_p.W702*|CAMTA2_ENST00000358183.4_Nonsense_Mutation_p.W697*|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000381311.5_Nonsense_Mutation_p.W699*|CAMTA2_ENST00000414043.3_Nonsense_Mutation_p.W720* NM_001171168.1 NP_001164639.1 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 697 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 AGGACCCTTCCAGGTGGAGCG 0.612000 17 103 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32914223 32914223 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:32914223G>A ENST00000544455.1 + 11 5958 c.5731G>A c.(5731-5733)Gat>Aat p.D1911N BRCA2_ENST00000380152.3_Missense_Mutation_p.D1911N NM_000059.3 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 1911 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TCTAGATAATGATGAATGTAG 0.338000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 11 38 0 0 1 0 0 SIAE 54414 broad.mit.edu 37 11 124518069 124518069 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:124518069G>A ENST00000263593.3 - 6 897 c.725C>T c.(724-726)tCc>tTc p.S242F SIAE_ENST00000545756.1_Missense_Mutation_p.S207F Q9HAT2 SIAE_HUMAN sialic acid acetylesterase 242 extracellular region|lysosome carboxylesterase activity|sialate O-acetylesterase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 15 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243) GTATGGAATGGACCTGAAATC 0.443000 23 25 0 0 1 0 0 REV1 51455 broad.mit.edu 37 2 100052376 100052376 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:100052376C>G ENST00000258428.3 - 7 1469 c.1241G>C c.(1240-1242)aGa>aCa p.R414T REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.R414T NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 414 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GCTCTGATGTCTGGGAGAATT 0.348000 Direct reversal of damage 39 119 0 0 1 0 0 EXOSC10 5394 broad.mit.edu 37 1 11132177 11132177 + Nonsense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:11132177C>A ENST00000376936.4 - 20 2258 c.2209G>T c.(2209-2211)Gaa>Taa p.E737* EXOSC10_ENST00000544779.1_3'UTR|RP4-635E18.7_ENST00000452378.1_RNA|EXOSC10_ENST00000304457.7_Nonsense_Mutation_p.E712* NM_001001998.1 NP_001001998.1 Q01780 EXOSX_HUMAN exosome component 10 737 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) TTGACAGCTTCTTTAGAGTCT 0.453000 34 70 5.78141e-17 6.20861e-17 1 1 0 NINL 22981 broad.mit.edu 37 20 25459797 25459797 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:25459797C>T ENST00000278886.6 - 16 2036 c.1963G>A c.(1963-1965)Gag>Aag p.E655K NINL_ENST00000422516.1_Missense_Mutation_p.E655K NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 655 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 CTCTCCTTCTCAAAGTTCCTT 0.537000 19 71 0 0 1 0 0 SARDH 1757 broad.mit.edu 37 9 136531911 136531911 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:136531911G>A ENST00000371872.4 - 20 2834 c.2577C>T c.(2575-2577)ttC>ttT p.F859F SARDH_ENST00000469828.1_5'UTR|SARDH_ENST00000439388.1_Silent_p.F859F|SARDH_ENST00000371868.1_Silent_p.F309F|SARDH_ENST00000422262.2_Silent_p.F691F NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 859 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) TGTCGATGGCGAACCCAAAGT 0.597000 3 11 0 0 1 0 0 FGD2 221472 broad.mit.edu 37 6 36982667 36982667 + Splice_Site SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:36982667G>A ENST00000274963.8 + 8 1053 c.e8-1 NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 CAACCCCCTAGGAGCGGCTGC 0.652000 24 292 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71730410 71730410 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:71730410C>T ENST00000258104.3 + 4 580 c.303C>T c.(301-303)ttC>ttT p.F101F DYSF_ENST00000409366.1_Silent_p.F102F|DYSF_ENST00000413539.2_Silent_p.F101F|DYSF_ENST00000394120.2_Silent_p.F102F|DYSF_ENST00000409651.1_Silent_p.F102F|DYSF_ENST00000409744.1_Silent_p.F102F|DYSF_ENST00000429174.2_Silent_p.F101F|DYSF_ENST00000410041.1_Silent_p.F102F|DYSF_ENST00000409582.3_Silent_p.F101F|DYSF_ENST00000410020.3_Silent_p.F102F|DYSF_ENST00000409762.1_Silent_p.F101F NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 101 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CCGCCAGCTTCAATGCCCCCC 0.577000 219 31 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101735186 101735186 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:101735186C>G ENST00000251127.6 - 33 3820 c.3739G>C c.(3739-3741)Gtt>Ctt p.V1247L NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1247 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AAGGTGAAAACAACTGACATT 0.493000 26 106 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175513 140175513 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:140175513G>A ENST00000526136.1 + 1 964 c.964G>A c.(964-966)Gca>Aca p.A322T PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A322T|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A322T NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGGTCACTGCAACTGACAA 0.378000 12 35 0 0 1 0 0 TSKU 25987 broad.mit.edu 37 11 76506762 76506762 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:76506762C>T ENST00000527881.1 + 2 1128 c.102C>T c.(100-102)ttC>ttT p.F34F TSKU_ENST00000333090.4_Silent_p.F34F Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 34 LRRNT. extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) TCGGCCTTTTCGACAGCTTCA 0.662000 32 87 0 0 1 0 0 SCEL 8796 broad.mit.edu 37 13 78163298 78163298 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:78163298C>T ENST00000535157.1 + 9 669 c.499C>T c.(499-501)Cca>Tca p.P167S SCEL_ENST00000377246.3_Missense_Mutation_p.P189S|SCEL_ENST00000349847.3_Missense_Mutation_p.P189S NM_001160706.1 NP_001154178.1 O95171 SCEL_HUMAN sciellin 189 embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) TGTTCACCCTCCAATACCTCC 0.393000 15 75 0 0 1 0 0 LIPC 3990 broad.mit.edu 37 15 58838000 58838000 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:58838000G>C ENST00000414170.3 + 6 921 c.634G>C c.(634-636)Gat>Cat p.D212H LIPC_ENST00000356113.6_Missense_Mutation_p.D212H|LIPC_ENST00000299022.5_Missense_Mutation_p.D212H|LIPC_ENST00000433326.2_Missense_Mutation_p.D151H P11150 LIPC_HUMAN lipase, hepatic 212 cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) TCTTTCTCCAGATGATGCCAA 0.537000 189 128 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38622656 38622656 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:38622656C>G ENST00000413689.1 - 17 3187 c.2994G>C c.(2992-2994)caG>caC p.Q998H SCN5A_ENST00000455624.2_Missense_Mutation_p.Q998H|SCN5A_ENST00000450102.2_Missense_Mutation_p.Q998H|SCN5A_ENST00000443581.1_Missense_Mutation_p.Q998H|SCN5A_ENST00000333535.4_Missense_Mutation_p.Q998H|SCN5A_ENST00000451551.2_Missense_Mutation_p.Q998H|SCN5A_ENST00000414099.2_Missense_Mutation_p.Q998H|SCN5A_ENST00000425664.1_Missense_Mutation_p.Q998H|SCN5A_ENST00000449557.2_Missense_Mutation_p.Q998H|SCN5A_ENST00000423572.2_Missense_Mutation_p.Q998H NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 998 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GCAGCTGGCCCTGGGCGGCAA 0.672000 14 15 0 0 1 0 0 CASKIN1 57524 broad.mit.edu 37 16 2237255 2237255 + Silent SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:2237255C>A ENST00000343516.6 - 8 839 c.747G>T c.(745-747)gtG>gtT p.V249V NM_020764.3 NP_065815.1 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 249 signal transduction cytoplasm breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3) 28 AGGTGTTCCTCACGTGGGCAT 0.632000 27 73 6.00712e-18 6.5044e-18 1 1 0 BLVRA 644 broad.mit.edu 37 7 43830958 43830958 + Missense_Mutation SNP A A G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:43830958A>G ENST00000402924.1 + 5 408 c.245A>G c.(244-246)gAc>gGc p.D82G BLVRA_ENST00000265523.4_Missense_Mutation_p.D82G NM_001253823.1 NP_001240752.1 P53004 BIEA_HUMAN biliverdin reductase A 82 heme catabolic process cytosol biliverdin reductase activity|zinc ion binding endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2) 12 NADH(DB00157) AGCCATGAGGACTACATCAGG 0.512000 103 55 0 0 1 0 0 NEFM 4741 broad.mit.edu 37 8 24771416 24771416 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:24771416C>T ENST00000221166.5 + 1 892 c.110C>T c.(109-111)tCg>tTg p.S37L GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000437366.2_Missense_Mutation_p.S37L|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.S37L P07197 NFM_HUMAN neurofilament, medium polypeptide 37 Head. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) GGCTTCCGCTCGCAGTCGTGG 0.697000 17 13 0 0 1 0 0 PABPC3 5042 broad.mit.edu 37 13 25671754 25671754 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:25671754C>T ENST00000281589.3 + 1 1455 c.1418C>T c.(1417-1419)aCg>aTg p.T473M NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 473 mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) GTCATGTCAACGCAGCGTGTT 0.542000 20 88 0 0 1 0 0 SMG5 23381 broad.mit.edu 37 1 156247764 156247764 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:156247764C>G ENST00000361813.5 - 3 393 c.249G>C c.(247-249)tgG>tgC p.W83C SMG5_ENST00000368267.5_Missense_Mutation_p.W83C NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 83 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) ATACCTTTCTCCACAGCAGCT 0.493000 29 143 0 0 1 0 0 PIEZO2 63895 broad.mit.edu 37 18 10672800 10672800 + Missense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr18:10672800C>A ENST00000302079.6 - 50 7703 c.7704G>T c.(7702-7704)tgG>tgT p.W2568C PIEZO2_ENST00000285141.4_Missense_Mutation_p.W423C|PIEZO2_ENST00000580640.1_Missense_Mutation_p.W2656C|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000538948.1_Missense_Mutation_p.W588C|PIEZO2_ENST00000503781.3_Missense_Mutation_p.W2631C Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2631 integral to membrane ion channel activity GGTTGAGAACCCACCACTCAC 0.408000 13 127 0.00185496 0.00188376 1 1 0 YY1AP1 55249 broad.mit.edu 37 1 155630385 155630385 + Nonsense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:155630385G>T ENST00000368340.5 - 10 1778 c.1670C>A c.(1669-1671)tCa>tAa p.S557* YY1AP1_ENST00000355499.4_Nonsense_Mutation_p.S439*|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000407221.1_Nonsense_Mutation_p.S408*|YY1AP1_ENST00000295566.4_Nonsense_Mutation_p.S485*|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000361831.5_Nonsense_Mutation_p.S428*|YY1AP1_ENST00000347088.5_Nonsense_Mutation_p.S439*|YY1AP1_ENST00000368330.2_Nonsense_Mutation_p.S439*|YY1AP1_ENST00000311573.5_Nonsense_Mutation_p.S408*|YY1AP1_ENST00000359205.5_Nonsense_Mutation_p.S428*|YY1AP1_ENST00000404643.1_Nonsense_Mutation_p.S419*|YY1AP1_ENST00000368339.5_Nonsense_Mutation_p.S577*|YY1AP1_ENST00000535662.1_Nonsense_Mutation_p.S285* NM_001198904.1 NP_001185833.1 YY1 associated protein 1 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2) 31 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) AGGGGCTTCTGAATGAGTTGA 0.552000 114 69 3.52435e-65 3.91328e-65 1 1 0 BRCA2 675 broad.mit.edu 37 13 32911868 32911868 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:32911868G>C ENST00000544455.1 + 11 3603 c.3376G>C c.(3376-3378)Gaa>Caa p.E1126Q BRCA2_ENST00000380152.3_Missense_Mutation_p.E1126Q NM_000059.3 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 1126 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AAGTCAGTTTGAATTTACTCA 0.343000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 15 28 0 0 1 0 0 HSF1 3297 broad.mit.edu 37 8 145535411 145535411 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:145535411C>G ENST00000528838.1 + 8 909 c.749C>G c.(748-750)tCc>tGc p.S250C HSF1_ENST00000400780.4_Missense_Mutation_p.S185C NM_005526.2 NP_005517.1 Q00613 HSF1_HUMAN heat shock transcription factor 1 250 Regulatory domain. cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2) 11 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) TACAGCAGCTCCAGCCTCTAC 0.692000 41 163 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62293224 62293224 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:62293224C>G ENST00000378024.4 - 5 8939 c.8665G>C c.(8665-8667)Gac>Cac p.D2889H AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2889 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) AGGTGCCAGTCTGGACCCTGA 0.517000 74 257 0 0 1 0 0 SOCS6 9306 broad.mit.edu 37 18 67992252 67992252 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr18:67992252G>A ENST00000397942.3 + 2 664 c.348G>A c.(346-348)gtG>gtA p.V116V SOCS6_ENST00000582322.1_Silent_p.V116V NM_004232.3 NP_004223.2 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 116 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 22 Esophageal squamous(42;0.129)|Colorectal(73;0.152) TTAAAGACGTGAGAGCTCAGA 0.597000 19 54 0 0 1 0 0 DIAPH1 1729 broad.mit.edu 37 5 140953172 140953172 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:140953172G>A ENST00000253811.6 - 16 2385 c.2245C>T c.(2245-2247)Cca>Tca p.P749S DIAPH1_ENST00000398562.2_Missense_Mutation_p.P728S|DIAPH1_ENST00000389054.3_Missense_Mutation_p.P749S|DIAPH1_ENST00000518047.1_Missense_Mutation_p.P740S|DIAPH1_ENST00000389057.5_Missense_Mutation_p.P740S|DIAPH1_ENST00000398566.3_Missense_Mutation_p.P740S|DIAPH1_ENST00000398557.4_Missense_Mutation_p.P749S|DIAPH1_ENST00000520569.1_Missense_Mutation_p.P695S O60610 DIAP1_HUMAN diaphanous-related formin 1 749 FH1. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGGGAGGTGGAGGCATACCC 0.587000 14 34 0 0 1 0 0 SF3A3 10946 broad.mit.edu 37 1 38450421 38450421 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:38450421C>T ENST00000373019.4 - 5 1289 c.334G>A c.(334-336)Gaa>Aaa p.E112K SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Missense_Mutation_p.E59K NM_006802.2 NP_006793.1 Q12874 SF3A3_HUMAN splicing factor 3a, subunit 3, 60kDa 112 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nuclear speck nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2) 12 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TTCAGGAGTTCCTCAAATTCC 0.433000 35 86 0 0 1 0 0 COX6A1 1337 broad.mit.edu 37 12 120875952 120875952 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:120875952C>T ENST00000229379.2 + 1 60 c.23C>T c.(22-24)tCg>tTg p.S8L NM_004373.3 NP_004364.2 P12074 CX6A1_HUMAN cytochrome c oxidase subunit VIa polypeptide 1 8 respiratory electron transport chain mitochondrial respiratory chain complex IV cytochrome-c oxidase activity all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGTGTGTCCTCGGTTTCTCGG 0.637000 21 6 0 0 1 0 0 ZNF195 7748 broad.mit.edu 37 11 3380678 3380678 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:3380678C>T ENST00000354599.6 - 4 1448 c.1344G>A c.(1342-1344)aaG>aaA p.K448K ZNF195_ENST00000429541.2_Silent_p.K452K|ZNF195_ENST00000005082.9_Silent_p.K497K|ZNF195_ENST00000343338.7_Silent_p.K452K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000526601.1_Silent_p.K501K|ZNF195_ENST00000399602.4_Silent_p.K520K NM_001242843.1|NM_001256825.1|NM_007152.4 NP_001229772.1|NP_001243754.1|NP_009083.2 O14628 ZN195_HUMAN zinc finger protein 195 520 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1) 17 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) ATTTGTAGGGCTTCTCTCCAG 0.403000 5 181 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7696168 7696168 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:7696168G>A ENST00000572933.1 + 47 8799 c.7339G>A c.(7339-7341)Gca>Aca p.A2447T DNAH2_ENST00000389173.2_Missense_Mutation_p.A2447T Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2447 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CAACATGTCCGCACAGGTGTG 0.647000 4 167 0 0 1 0 0 MAN2B1 4125 broad.mit.edu 37 19 12767436 12767436 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:12767436G>A ENST00000456935.2 - 13 1633 c.1593C>T c.(1591-1593)agC>agT p.S531S MAN2B1_ENST00000221363.4_Silent_p.S530S NM_000528.3|NM_001173498.1 NP_000519.2|NP_001166969.1 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 531 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 AAACGCCTTCGCTGACCGGCA 0.602000 106 68 0 0 1 0 0 MRPS25 64432 broad.mit.edu 37 3 15094937 15094937 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:15094937C>G ENST00000253686.2 - 3 419 c.279G>C c.(277-279)aaG>aaC p.K93N MRPS25_ENST00000449354.2_Missense_Mutation_p.K93N|MRPS25_ENST00000444840.2_Intron NM_022497.3 NP_071942.1 P82663 RT25_HUMAN mitochondrial ribosomal protein S25 93 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome large_intestine(1)|lung(1) 2 CCTTATTGCTCTTGGTCTCCA 0.488000 18 58 0 0 1 0 0 LRP11 84918 broad.mit.edu 37 6 150174190 150174190 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:150174190G>A ENST00000239367.2 - 2 725 c.720C>T c.(718-720)atC>atT p.I240I LRP11_ENST00000546019.1_5'UTR|LRP11_ENST00000367368.2_Silent_p.I240I|RP11-350J20.12_ENST00000472053.2_RNA NM_032832.5 NP_116221.3 Q86VZ4 LRP11_HUMAN low density lipoprotein receptor-related protein 11 240 PKD. integral to membrane receptor activity cervix(1)|kidney(5)|large_intestine(1)|lung(1) 8 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225) CATACTGGACGATGGCGTGGT 0.562000 37 32 0 0 1 0 0 ZNF585B 92285 broad.mit.edu 37 19 37676214 37676214 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:37676214C>G ENST00000532828.2 - 5 2476 c.2225G>C c.(2224-2226)gGa>gCa p.G742A ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_Missense_Mutation_p.G330A|ZNF585B_ENST00000531805.1_Missense_Mutation_p.G687A|CTC-454I21.3_ENST00000585860.2_Intron NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 742 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGGTTTGTCTCCAGTGTGTGT 0.478000 10 203 0 0 1 0 0 TMEM255B 348013 broad.mit.edu 37 13 114503880 114503880 + Silent SNP C C T rs66696122 TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:114503880C>T ENST00000375353.3 + 6 531 c.504C>T c.(502-504)tgC>tgT p.C168C NM_182614.2 NP_872420.1 transmembrane protein 255B TCTATGCCTGCGGGAGGTGAG 0.647000 20 12 0 0 1 0 0 RNF40 9810 broad.mit.edu 37 16 30775620 30775620 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:30775620C>G ENST00000324685.6 + 5 998 c.563C>G c.(562-564)tCc>tGc p.S188C RNF40_ENST00000563683.1_Missense_Mutation_p.S188C|RNF40_ENST00000402121.3_Intron|RNF40_ENST00000357890.5_Missense_Mutation_p.S188C NM_001207033.1|NM_014771.3 NP_001193962.1|NP_055586 O75150 BRE1B_HUMAN ring finger protein 40, E3 ubiquitin protein ligase 188 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) ATGGAGTTCTCCAAGGCAGCT 0.627000 14 57 0 0 1 0 0 ZBTB24 9841 broad.mit.edu 37 6 109802504 109802504 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:109802504C>G ENST00000230122.3 - 2 893 c.726G>C c.(724-726)aaG>aaC p.K242N NM_001164313.1|NM_014797.2 NP_001157785.1|NP_055612.2 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 242 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) CATCCTCGGTCTTGGGATCAT 0.463000 55 104 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104123937 104123937 + Missense_Mutation SNP A A C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:104123937A>C ENST00000388887.2 + 49 5330 c.5126A>C c.(5125-5127)gAt>gCt p.D1709A NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1709 FAS1 5. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 ATATCCAGTGATATCATCAGT 0.333000 27 42 0 0 1 0 0 SLC5A3 6526 broad.mit.edu 37 21 35468011 35468011 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr21:35468011C>T ENST00000608209.1 + 2 1026 c.514C>T c.(514-516)Ctg>Ttg p.L172L AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000381151.3_Silent_p.L172L NM_006933.4 NP_008864.3 P53794 SC5A3_HUMAN solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 GACTGCTTTGCTGACTGTCAC 0.473000 29 84 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71776507 71776507 + Missense_Mutation SNP C C T rs144931729 byFrequency TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:71776507C>T ENST00000258104.3 + 17 1785 c.1508C>T c.(1507-1509)tCg>tTg p.S503L DYSF_ENST00000409366.1_Missense_Mutation_p.S504L|DYSF_ENST00000413539.2_Missense_Mutation_p.S534L|DYSF_ENST00000394120.2_Missense_Mutation_p.S504L|DYSF_ENST00000409651.1_Missense_Mutation_p.S535L|DYSF_ENST00000409744.1_Intron|DYSF_ENST00000429174.2_Missense_Mutation_p.S503L|DYSF_ENST00000410041.1_Intron|DYSF_ENST00000409582.3_Intron|DYSF_ENST00000410020.3_Intron|DYSF_ENST00000409762.1_Intron NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 503 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 GTCAAGCCTTCGAAAGCCTCA 0.577000 36 6 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41537064 41537064 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:41537064C>G ENST00000263253.7 + 10 3110 c.1891C>G c.(1891-1893)Cac>Gac p.H631D NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 631 KIX. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 GGAATACTACCACCTTCTAGC 0.373000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 16 15 0 0 1 0 0 GIPR 2696 broad.mit.edu 37 19 46178078 46178078 + Nonsense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:46178078G>A ENST00000590918.1 + 7 726 c.627G>A c.(625-627)tgG>tgA p.W209* GIPR_ENST00000263281.3_Nonsense_Mutation_p.W209*|GIPR_ENST00000304207.8_Nonsense_Mutation_p.W173* NM_000164.2 NP_000155.1 P48546 GIPR_HUMAN gastric inhibitory polypeptide receptor 209 generation of precursor metabolites and energy|response to nutrient integral to membrane|plasma membrane endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 12 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199) TTGCGCTGTGGAACCAGGTGG 0.577000 20 61 0 0 1 0 0 ZFP37 7539 broad.mit.edu 37 9 115806039 115806039 + Nonsense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:115806039G>A ENST00000374227.3 - 4 886 c.859C>T c.(859-861)Caa>Taa p.Q287* ZFP37_ENST00000555206.1_Nonsense_Mutation_p.Q288*|ZFP37_ENST00000553380.1_Nonsense_Mutation_p.Q302* NM_001282515.1|NM_001282518.1 NP_001269444.1|NP_001269447.1 Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 287 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 ACACAAGCTTGAGGTTTTTCA 0.403000 61 51 0 0 1 0 0 KLHL31 401265 broad.mit.edu 37 6 53516760 53516760 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:53516760C>G ENST00000370905.3 - 3 1681 c.1541G>C c.(1540-1542)aGa>aCa p.R514T KLHL31_ENST00000407079.1_Missense_Mutation_p.R514T NM_001003760.4 NP_001003760.2 Q9H511 KLH31_HUMAN kelch-like family member 31 514 regulation of transcription, DNA-dependent|transcription, DNA-dependent autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3) 20 Lung NSC(77;0.0158) CACGTACACTCTGTCGCTCAG 0.716000 3 10 0 0 1 0 0 HIST1H2BE 8344 broad.mit.edu 37 6 26184245 26184245 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:26184245C>T ENST00000356530.3 + 1 288 c.222C>T c.(220-222)atC>atT p.I74I NM_003523.2 NP_003514.2 P62807 H2B1C_HUMAN histone cluster 1, H2be 74 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding endometrium(1)|large_intestine(2)|lung(1) 4 TCGAGCGCATCGCCGGCGAGG 0.607000 292 26 0 0 1 0 0 ACAP2 23527 broad.mit.edu 37 3 195063325 195063325 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:195063325C>G ENST00000326793.6 - 6 633 c.403G>C c.(403-405)Gaa>Caa p.E135Q NM_012287.5 NP_036419.3 Q15057 ACAP2_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 135 BAR. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 27 AACGCATTTTCTTTTTCTTCA 0.328000 14 5 0 0 1 0 0 GSG1 83445 broad.mit.edu 37 12 13243611 13243611 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:13243611C>T ENST00000337630.6 - 2 218 c.151G>A c.(151-153)Gag>Aag p.E51K GSG1_ENST00000537302.1_Missense_Mutation_p.E51K|GSG1_ENST00000432710.2_Missense_Mutation_p.E64K|GSG1_ENST00000396302.3_Missense_Mutation_p.E51K|GSG1_ENST00000396310.2_Missense_Mutation_p.E48K|GSG1_ENST00000324458.8_Missense_Mutation_p.E64K|GSG1_ENST00000457134.2_Missense_Mutation_p.E51K|GSG1_ENST00000351606.6_Missense_Mutation_p.E64K NM_153823.3 NP_722545.2 Q2KHT4 GSG1_HUMAN germ cell associated 1 51 endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) AGACCTTTCTCGCACAGGGGC 0.542000 56 95 0 0 1 0 0 DIP2B 57609 broad.mit.edu 37 12 51121551 51121551 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:51121551C>G ENST00000301180.5 + 29 3500 c.3466C>G c.(3466-3468)Ctt>Gtt p.L1156V NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 1156 nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 GTTGGCATATCTTGATTTTAG 0.433000 42 114 0 0 1 0 0 SHQ1 55164 broad.mit.edu 37 3 72890342 72890342 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:72890342C>G ENST00000325599.8 - 4 479 c.340G>C c.(340-342)Gag>Cag p.E114Q SHQ1_ENST00000463369.1_Missense_Mutation_p.E86Q NM_018130.2 NP_060600.2 Q6PI26 SHQ1_HUMAN SHQ1, H/ACA ribonucleoprotein assembly factor 114 ribonucleoprotein complex assembly cytosol|nucleoplasm protein binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213) TCAGGAATCTCAGAAGCACCT 0.373000 13 21 0 0 1 0 0 SPTLC1 10558 broad.mit.edu 37 9 94843181 94843181 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:94843181G>A ENST00000262554.2 - 4 330 c.325C>T c.(325-327)Ctt>Ttt p.L109F SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Missense_Mutation_p.L109F NM_006415.2 NP_006406.1 O15269 SPTC1_HUMAN serine palmitoyltransferase, long chain base subunit 1 109 integral to membrane|SPOTS complex protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 14 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) AACAATCCAAGAAAATTAAAT 0.378000 18 48 0 0 1 0 0 GNE 10020 broad.mit.edu 37 9 36249349 36249349 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:36249349C>T ENST00000396594.3 - 2 208 c.97G>A c.(97-99)Gag>Aag p.E33K GNE_ENST00000539208.1_Intron|GNE_ENST00000377902.5_Missense_Mutation_p.E2K|GNE_ENST00000543356.2_Intron|GNE_ENST00000447283.2_Missense_Mutation_p.E2K|GNE_ENST00000539815.1_Missense_Mutation_p.E2K NM_001128227.2 NP_001121699.1 Q9Y223 GLCNE_HUMAN glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 2 cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 STAD - Stomach adenocarcinoma(86;0.228) CCATTCTTCTCCATGATTTGC 0.353000 17 134 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144943935 144943935 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:144943935C>G ENST00000525985.1 - 2 3558 c.3487G>C c.(3487-3489)Gag>Cag p.E1163Q P58107 EPIPL_HUMAN epiplakin 1 1163 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGCACGTCCTCCAGCAGGCCC 0.672000 5 23 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167642220 167642220 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:167642220G>A ENST00000519204.1 + 20 3776 c.3658G>A c.(3658-3660)Gaa>Aaa p.E1220K TENM2_ENST00000520394.1_Missense_Mutation_p.E1102K|TENM2_ENST00000518659.1_Missense_Mutation_p.E1341K|TENM2_ENST00000403607.2_Missense_Mutation_p.E1165K|TENM2_ENST00000545108.1_Missense_Mutation_p.E1340K teneurin transmembrane protein 2 ACCCTTTGATGAAGCCCGCTG 0.557000 105 23 0 0 1 0 0 EFCAB3 146779 broad.mit.edu 37 17 60493508 60493508 + Missense_Mutation SNP A A G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:60493508A>G ENST00000450662.2 + 12 1362 c.1291A>G c.(1291-1293)Aca>Gca p.T431A EFCAB3_ENST00000305286.3_Missense_Mutation_p.T379A NM_001144933.1 NP_001138405.1 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 379 calcium ion binding cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) TTCTACTTATACATGGTCCTG 0.408000 46 54 0 0 1 0 0 ZNF799 90576 broad.mit.edu 37 19 12501446 12501446 + Missense_Mutation SNP T T C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:12501446T>C ENST00000419318.1 - 4 2419 c.1670A>G c.(1669-1671)gAa>gGa p.E557G ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G|CTD-3105H18.14_ENST00000435033.1_Intron Q96GE5 ZN799_HUMAN zinc finger protein 799 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TTCCTTACATTCATACGGGTT 0.413000 3 52 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 38138896 38138896 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:38138896G>A ENST00000261439.4 + 20 3802 c.3447G>A c.(3445-3447)cgG>cgA p.R1149R TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Silent_p.R1140R NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 1149 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 TGCGGCGGCGGAGCGCAGAGC 0.647000 16 193 0 0 1 0 0 TCAP 8557 broad.mit.edu 37 17 37822334 37822334 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:37822334C>T ENST00000309889.2 + 2 1649 c.476C>T c.(475-477)tCc>tTc p.S159F TCAP_ENST00000578283.1_Missense_Mutation_p.S135F O15273 TELT_HUMAN titin-cap 159 adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly cytosol|Z disc structural constituent of muscle|titin binding|titin Z domain binding kidney(1)|lung(1) 2 all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CTGTCCCGCTCCATGTCCCAG 0.657000 129 166 0 0 1 0 0 CYB5R3 1727 broad.mit.edu 37 22 43032768 43032768 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:43032768G>A ENST00000361740.4 - 2 204 c.205C>T c.(205-207)Ctc>Ttc p.L69F CYB5R3_ENST00000352397.5_Missense_Mutation_p.L36F|CYB5R3_ENST00000402438.1_Missense_Mutation_p.L13F|CYB5R3_ENST00000407623.3_Missense_Mutation_p.L13F|CYB5R3_ENST00000396303.3_Missense_Mutation_p.L13F|CYB5R3_ENST00000407332.1_Missense_Mutation_p.L13F NM_001171660.1 NP_001165131.1 P00387 NB5R3_HUMAN cytochrome b5 reductase 3 36 FAD-binding FR-type. blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane cytochrome-b5 reductase activity kidney(2)|large_intestine(1)|lung(2)|skin(1) 6 NADH(DB00157) GGGCTCTCGAGGGTGATGGCT 0.627000 33 28 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62212771 62212771 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:62212771G>A ENST00000261517.5 - 56 7211 c.7138C>T c.(7138-7140)Cat>Tat p.H2380Y VPS13C_ENST00000395898.3_Missense_Mutation_p.H2337Y|VPS13C_ENST00000395896.4_Missense_Mutation_p.H2380Y|VPS13C_ENST00000249837.3_Missense_Mutation_p.H2337Y NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 2380 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 GAAGAAATATGAATTGCCATT 0.313000 14 9 0 0 1 0 0 AMBRA1 55626 broad.mit.edu 37 11 46529801 46529801 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:46529801G>C ENST00000458649.2 - 9 2697 c.2279C>G c.(2278-2280)tCt>tGt p.S760C AMBRA1_ENST00000533727.1_Missense_Mutation_p.S641C|AMBRA1_ENST00000426438.1_Missense_Mutation_p.S731C|AMBRA1_ENST00000298834.3_Intron|AMBRA1_ENST00000314845.3_Missense_Mutation_p.S670C|AMBRA1_ENST00000534300.1_Intron|AMBRA1_ENST00000528950.1_Missense_Mutation_p.S731C Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 760 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) GTCTGAGGAAGAGGAGGAGGT 0.517000 24 67 0 0 1 0 0 OR52I1 390037 broad.mit.edu 37 11 4616239 4616239 + Nonsense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:4616239C>G ENST00000450052.2 + 2 1043 c.1043C>G c.(1042-1044)tCa>tGa p.S348* OR52I1_ENST00000530443.2_Nonsense_Mutation_p.S324* Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, member 1 324 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 15 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AACCTGGGTTCATGAACACAA 0.433000 24 89 0 0 1 0 0 CDH5 1003 broad.mit.edu 37 16 66423281 66423281 + Missense_Mutation SNP A A C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:66423281A>C ENST00000341529.3 + 5 785 c.637A>C c.(637-639)Aaa>Caa p.K213Q CDH5_ENST00000563425.2_Missense_Mutation_p.K213Q NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 213 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) CACAATAACGAAAAGCTTGGA 0.562000 14 32 0 0 1 0 0 TTC21B 79809 broad.mit.edu 37 2 166770116 166770116 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:166770116G>T ENST00000243344.7 - 16 2316 c.2179C>A c.(2179-2181)Ctc>Atc p.L727I NM_024753.4 NP_079029.3 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 727 cilium axoneme|cytoplasm|cytoskeleton binding breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1) 58 TCACCAAGGAGAAGAAAAGAC 0.323000 3 53 0.014758 0.0148488 1 1 0 RYR1 6261 broad.mit.edu 37 19 39055650 39055650 + Missense_Mutation SNP G G A rs118192128 TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:39055650G>A ENST00000355481.4 + 90 12792 c.12661G>A c.(12661-12663)Gag>Aag p.E4221K RYR1_ENST00000359596.3_Missense_Mutation_p.E4226K|RYR1_ENST00000360985.3_Missense_Mutation_p.E4221K NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 4226 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CGAGGGCGGCGAGGCTGAGAA 0.642000 11 20 0 0 1 0 0 PPP2CA 5515 broad.mit.edu 37 5 133536147 133536147 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:133536147C>T ENST00000481195.1 - 5 897 c.617G>A c.(616-618)cGt>cAt p.R206H CTD-2410N18.5_ENST00000519718.1_Intron NM_002715.2 NP_002706.1 protein phosphatase 2, catalytic subunit, alpha isozyme endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCAACCACCACGGTCATCTGG 0.413000 36 12 0 0 1 0 0 KIAA1737 85457 broad.mit.edu 37 14 77580381 77580381 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:77580381C>T ENST00000361786.2 + 4 1237 c.920C>T c.(919-921)tCa>tTa p.S307L RP11-463C8.4_ENST00000557752.1_Intron NM_033426.2 NP_219494.2 Q9C0C6 K1737_HUMAN KIAA1737 307 endometrium(2)|lung(4)|prostate(3) 9 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0284) GATATCTTTTCAGAGCAGCGG 0.478000 19 36 0 0 1 0 0 LTN1 26046 broad.mit.edu 37 21 30339132 30339132 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr21:30339132C>G ENST00000389194.2 - 10 1824 c.1819G>C c.(1819-1821)Gag>Cag p.E607Q LTN1_ENST00000361371.5_Missense_Mutation_p.E561Q|LTN1_ENST00000389195.2_Missense_Mutation_p.E607Q NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 561 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 TCAATCTTCTCTCCTTCTGAA 0.348000 13 7 0 0 1 0 0 PER1 5187 broad.mit.edu 37 17 8048196 8048196 + Silent SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:8048196C>G ENST00000317276.4 - 18 2571 c.2334G>C c.(2332-2334)ctG>ctC p.L778L PER1_ENST00000354903.5_Silent_p.L762L|PER1_ENST00000581082.1_Silent_p.L758L|PER1_ENST00000578089.1_Intron NM_002616.2 NP_002607.2 O15534 PER1_HUMAN period circadian clock 1 778 CSNK1E binding domain (By similarity). circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CGGCCTTGGTCAGCCCCACTG 0.682000 T ETV6 """AML, CMML""" Other conserved DNA damage response genes 19 2 0 0 1 0 0 UBE3A 7337 broad.mit.edu 37 15 25615955 25615955 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:25615955C>G ENST00000232165.3 - 6 2022 c.1366G>C c.(1366-1368)Gaa>Caa p.E456Q UBE3A_ENST00000438097.1_Missense_Mutation_p.E436Q|UBE3A_ENST00000428984.2_Missense_Mutation_p.E436Q|UBE3A_ENST00000397954.2_Missense_Mutation_p.E459Q|UBE3A_ENST00000566215.1_Missense_Mutation_p.E436Q|SNHG14_ENST00000554726.1_RNA NM_000462.3|NM_130839.2 NP_000453.2|NP_570854.1 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A 459 Interaction with HCV core protein. brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 38 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) TTATCCATTTCTAGAACCTCA 0.353000 5 17 0 0 1 0 0 SMAD3 4088 broad.mit.edu 37 15 67477081 67477081 + Silent SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:67477081C>G ENST00000327367.4 + 7 1198 c.888C>G c.(886-888)ctC>ctG p.L296L SMAD3_ENST00000537194.2_Silent_p.L101L|SMAD3_ENST00000540846.2_Silent_p.L191L|SMAD3_ENST00000439724.3_Silent_p.L252L NM_005902.3 NP_005893.1 P84022 SMAD3_HUMAN SMAD family member 3 296 MH2.|Sufficient for interaction with XPO4. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) GCGTGCGGCTCTACTACATCG 0.587000 24 87 0 0 1 0 0 GADD45A 1647 broad.mit.edu 37 1 68152235 68152235 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:68152235G>A ENST00000370986.4 + 3 783 c.349G>A c.(349-351)Gag>Aag p.E117K GADD45A_ENST00000370985.3_Missense_Mutation_p.E83K|GADD45A_ENST00000460575.1_3'UTR NM_001924.3 NP_001915.1 P24522 GA45A_HUMAN growth arrest and DNA-damage-inducible, alpha 117 apoptosis|cell cycle arrest|cellular response to ionizing radiation|cellular response to mechanical stimulus|DNA repair|positive regulation of reactive oxygen species metabolic process|regulation of cyclin-dependent protein kinase activity|signal transduction in response to DNA damage nucleus protein binding lung(2)|ovary(2) 4 CGAGGGCGCCGAGCAGCCCCC 0.706000 19 9 0 0 1 0 0 KIAA0947 23379 broad.mit.edu 37 5 5460802 5460802 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:5460802C>T ENST00000296564.7 + 13 1577 c.1355C>T c.(1354-1356)tCt>tTt p.S452F NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 452 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 CTGAGAGAATCTTCTGCCACA 0.408000 7 27 0 0 1 0 0 PFKP 5214 broad.mit.edu 37 10 3155563 3155563 + Splice_Site SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:3155563G>A ENST00000381075.2 + 15 1424 c.e15-1 PFKP_ENST00000381125.4_Splice_Site NM_001242339.1 NP_001229268.1 Q01813 K6PP_HUMAN phosphofructokinase, platelet glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) CTGTTTTGCAGACCAATTGCA 0.607000 6 35 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73904395 73904395 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:73904395G>A ENST00000342056.2 + 15 2512 c.2114G>A c.(2113-2115)aGa>aAa p.R705K KCNQ5_ENST00000403813.2_Missense_Mutation_p.R677K|KCNQ5_ENST00000370398.1_Missense_Mutation_p.R686K|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R696K|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R686K|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R687K|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R576K NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 686 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) AACATCTCGAGAGGCCTGCAG 0.488000 71 70 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144857625 144857625 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:144857625G>A ENST00000369359.4 - 42 6875 c.6837C>T c.(6835-6837)atC>atT p.I2279I PDE4DIP_ENST00000530740.1_Silent_p.I2228I|PDE4DIP_ENST00000369354.3_Silent_p.I2143I|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Silent_p.I2143I|PDE4DIP_ENST00000313382.9_Silent_p.I2037I Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 2143 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TTGCTCTGTTGATTATGGGCG 0.468000 T PDGFRB MPD 35 289 0 0 1 0 0 BANP 54971 broad.mit.edu 37 16 88017774 88017774 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:88017774C>G ENST00000393207.1 + 4 468 c.247C>G c.(247-249)Ctg>Gtg p.L83V BANP_ENST00000355022.4_Missense_Mutation_p.L91V|BANP_ENST00000393208.2_Missense_Mutation_p.L91V|BANP_ENST00000355163.5_Missense_Mutation_p.L97V|BANP_ENST00000286122.7_Missense_Mutation_p.L83V|BANP_ENST00000479780.2_Missense_Mutation_p.L91V|BANP_ENST00000538234.1_Missense_Mutation_p.L91V NM_001173543.1 NP_001167014.1 Q8N9N5 BANP_HUMAN BTG3 associated nuclear protein 83 cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.00551) AAAGCTGGATCTGGTCACGAA 0.527000 4 5 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152193539 152193539 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:152193539G>T ENST00000368801.2 - 3 641 c.566C>A c.(565-567)tCt>tAt p.S189Y FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 189 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCGGCCTGAAGACTGATGGGA 0.537000 5 75 2.32416e-17 2.50412e-17 1 1 0 MAGI3 260425 broad.mit.edu 37 1 114128143 114128143 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:114128143G>A ENST00000369615.1 + 4 750 c.688G>A c.(688-690)Gaa>Aaa p.E230K MAGI3_ENST00000307546.9_Missense_Mutation_p.E230K|MAGI3_ENST00000369611.4_Missense_Mutation_p.E230K|MAGI3_ENST00000369617.4_Missense_Mutation_p.E230K NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 230 Guanylate kinase-like. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CAGCAAGATGGAAAGAATGGA 0.418000 17 34 0 0 1 0 0 ZNF687 57592 broad.mit.edu 37 1 151258795 151258795 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:151258795G>C ENST00000368879.2 + 2 126 c.28G>C c.(28-30)Gat>Cat p.D10H NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 10 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CCCTGATTTTGATGACCTCCT 0.517000 216 139 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152768689 152768689 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:152768689C>G ENST00000367255.5 - 29 4174 c.3573G>C c.(3571-3573)ttG>ttC p.L1191F SYNE1_ENST00000265368.4_Missense_Mutation_p.L1191F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L1198F|SYNE1_ENST00000367248.3_Missense_Mutation_p.L1181F|SYNE1_ENST00000367253.4_Missense_Mutation_p.L1191F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L1198F|SYNE1_ENST00000413186.2_Missense_Mutation_p.L1191F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L1257F NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1191 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AAACTTCTGTCAAAACTTTCA 0.458000 HNSCC(10;0.0054) 26 41 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64416024 64416024 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:64416024C>T ENST00000262043.3 + 12 3813 c.3473C>T c.(3472-3474)gCa>gTa p.A1158V PHF3_ENST00000393387.1_Missense_Mutation_p.A1158V Q92576 PHF3_HUMAN PHD finger protein 3 1158 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) ATAGCAGATGCATTATCTTCA 0.398000 12 27 0 0 1 0 0 FMO4 2329 broad.mit.edu 37 1 171293307 171293307 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:171293307G>C ENST00000367749.3 + 5 682 c.352G>C c.(352-354)Gac>Cac p.D118H FMO4_ENST00000462992.1_3'UTR NM_002022.1 NP_002013.1 P31512 FMO4_HUMAN flavin containing monooxygenase 4 118 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) GAAGCGTCCAGACTTCTCCGA 0.463000 123 247 0 0 1 0 0 ZNF544 27300 broad.mit.edu 37 19 58772798 58772798 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:58772798G>A ENST00000269829.4 + 7 1300 c.826G>A c.(826-828)Gga>Aga p.G276R ZNF544_ENST00000595981.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.G248R|ZNF544_ENST00000600044.1_Missense_Mutation_p.G248R|ZNF544_ENST00000600220.1_Missense_Mutation_p.G248R|ZNF544_ENST00000599953.1_Missense_Mutation_p.G134R|ZNF544_ENST00000596652.1_Missense_Mutation_p.G276R|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596825.1_3'UTR NM_014480.2 NP_055295.2 Q6NX49 ZN544_HUMAN zinc finger protein 544 276 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 18 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) TAAGGATTATGGAAACCTCTT 0.408000 13 82 0 0 1 0 0 YME1L1 10730 broad.mit.edu 37 10 27437904 27437904 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:27437904G>A ENST00000326799.3 - 2 247 c.99C>T c.(97-99)ctC>ctT p.L33L YME1L1_ENST00000375972.3_Silent_p.L33L|YME1L1_ENST00000477432.1_Silent_p.L33L|YME1L1_ENST00000376016.3_Silent_p.L33L NM_139312.2 NP_647473.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 33 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 ACACTCCACTGAGAGAAACAG 0.408000 49 199 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27011877 27011877 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:27011877C>G ENST00000314616.6 + 19 2668 c.2385C>G c.(2383-2385)ttC>ttG p.F795L SUPT6H_ENST00000347486.4_Missense_Mutation_p.F795L NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 795 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) ACCCTGTGTTCTGCGCCCTGG 0.443000 93 42 0 0 1 0 0 MMRN1 22915 broad.mit.edu 37 4 90857267 90857267 + Silent SNP T T C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:90857267T>C ENST00000394980.1 + 7 2755 c.2436T>C c.(2434-2436)gaT>gaC p.D812D MMRN1_ENST00000508372.1_Silent_p.D554D|MMRN1_ENST00000264790.2_Silent_p.D812D|MMRN1_ENST00000394981.1_Intron Q13201 MMRN1_HUMAN multimerin 1 812 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) TTCCCAGAGATGAGAAACTAA 0.383000 9 30 0 0 1 0 0 GJA10 84694 broad.mit.edu 37 6 90605283 90605283 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:90605283C>G ENST00000369352.1 + 1 1096 c.1096C>G c.(1096-1098)Cag>Gag p.Q366E NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 366 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) TACAATGTCTCAGTCCTGGCT 0.552000 95 65 0 0 1 0 0 GARNL3 84253 broad.mit.edu 37 9 130152935 130152935 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:130152935G>T ENST00000373387.4 + 27 3111 c.2759G>T c.(2758-2760)gGt>gTt p.G920V GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.G898V|GARNL3_ENST00000314904.5_3'UTR NM_032293.4 NP_115669.3 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 920 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 TCGGATGAAGGTGGACCCAAG 0.537000 79 71 2.70572e-37 2.9591e-37 1 1 0 NCOA2 10499 broad.mit.edu 37 8 71036267 71036267 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:71036267C>T ENST00000452400.2 - 21 4326 c.4145G>A c.(4144-4146)aGc>aAc p.S1382N NCOA2_ENST00000267974.4_Missense_Mutation_p.S470N NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 1382 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) ACTGTACATGCTGGTGTTTGC 0.473000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 40 23 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62293741 62293741 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:62293741C>T ENST00000378024.4 - 5 8422 c.8148G>A c.(8146-8148)ctG>ctA p.L2716L AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2716 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TGGGTCCTTTCAGGTTTAAGT 0.473000 58 181 0 0 1 0 0 SMG5 23381 broad.mit.edu 37 1 156247778 156247778 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:156247778C>T ENST00000361813.5 - 3 379 c.235G>A c.(235-237)Gag>Aag p.E79K SMG5_ENST00000368267.5_Missense_Mutation_p.E79K NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 79 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) AGCAGCTCCTCAGCCTTTCTC 0.502000 28 118 0 0 1 0 0 ADIPOR1 51094 broad.mit.edu 37 1 202917512 202917512 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:202917512C>T ENST00000340990.5 - 3 476 c.178G>A c.(178-180)Gaa>Aaa p.E60K ADIPOR1_ENST00000367254.3_Missense_Mutation_p.E60K|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.E60K NM_015999.4 NP_057083.2 Q96A54 ADR1_HUMAN adiponectin receptor 1 60 fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(75;0.141) TCCTCCTCTTCTTCCTGGGGC 0.507000 11 48 0 0 1 0 0 FOXN2 3344 broad.mit.edu 37 2 48573386 48573386 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:48573386G>A ENST00000340553.3 + 3 294 c.33G>A c.(31-33)aaG>aaA p.K11K NM_002158.3 NP_002149.2 P32314 FOXN2_HUMAN forkhead box N2 11 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 13 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036) CTCCAGATAAGAGAGCTGAAA 0.423000 76 15 0 0 1 0 0 COG8 84342 broad.mit.edu 37 16 69370440 69370440 + Nonsense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:69370440C>A ENST00000306875.4 - 2 667 c.553G>T c.(553-555)Gag>Tag p.E185* RP11-343C2.9_ENST00000563634.1_Nonsense_Mutation_p.E60*|RP11-343C2.7_ENST00000564737.1_3'UTR|COG8_ENST00000562081.1_Nonsense_Mutation_p.E185* NM_032382.4 NP_115758.3 Q96MW5 COG8_HUMAN component of oligomeric golgi complex 8 185 protein transport Golgi membrane|Golgi transport complex breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1) 9 TATTTCCTCTCCAGTCGGCGT 0.478000 10 35 9.31168e-06 9.53026e-06 1 1 0 OR4F15 390649 broad.mit.edu 37 15 102358647 102358647 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:102358647C>G ENST00000332238.4 + 1 282 c.258C>G c.(256-258)ttC>ttG p.F86L NM_001001674.1 NP_001001674.1 Q8NGB8 O4F15_HUMAN olfactory receptor, family 4, subfamily F, member 15 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10) 19 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) GTGATATTTTCAAGAAGCACA 0.463000 22 84 0 0 1 0 0 LIPG 9388 broad.mit.edu 37 18 47101864 47101864 + Nonsense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr18:47101864C>T ENST00000261292.4 + 5 975 c.697C>T c.(697-699)Cag>Tag p.Q233* LIPG_ENST00000577628.1_Nonsense_Mutation_p.Q269*|LIPG_ENST00000427224.2_Intron|LIPG_ENST00000580036.1_Nonsense_Mutation_p.Q233* NM_006033.2 NP_006024.1 Q9Y5X9 LIPE_HUMAN lipase, endothelial 233 cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 CATTGGTATTCAGATGCCTGT 0.532000 37 51 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56716381 56716381 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:56716381G>C ENST00000370754.5 - 4 438 c.439C>G c.(439-441)Cgc>Ggc p.R147G RP11-472M19.2_ENST00000426453.1_RNA Q03001 DYST_HUMAN dystonin 0 Actin-binding. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATAGAGCAGCGATAGGACGCG 0.478000 OREG0017515 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 13 0 0 1 0 0 PSME1 5720 broad.mit.edu 37 14 24606976 24606976 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:24606976G>A ENST00000382708.3 + 6 423 c.360G>A c.(358-360)gaG>gaA p.E120E PSME1_ENST00000206451.6_Silent_p.E120E|PSME1_ENST00000561435.1_Silent_p.E120E|PSME1_ENST00000559123.1_5'UTR NM_176783.1 NP_788955.1 Q06323 PSME1_HUMAN proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) 120 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|S phase of mitotic cell cycle|viral reproduction cytoplasm|proteasome activator complex endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 GBM - Glioblastoma multiforme(265;0.00831) TGAAGCCTGAGATCAAGGATG 0.512000 29 48 0 0 1 0 0 TGM1 7051 broad.mit.edu 37 14 24727513 24727513 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:24727513G>A ENST00000206765.6 - 9 1503 c.1380C>T c.(1378-1380)gcC>gcT p.A460A TGM1_ENST00000544573.1_Silent_p.A18A NM_000359.2 NP_000350.1 P22735 TGM1_HUMAN transglutaminase 1 460 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2) 24 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) CTTGGGGTGTGGCATCCACCA 0.592000 21 29 0 0 1 0 0 SNX19 399979 broad.mit.edu 37 11 130785702 130785702 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:130785702G>C ENST00000265909.4 - 1 702 c.133C>G c.(133-135)Ctg>Gtg p.L45V SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.L45V|SNX19_ENST00000539184.1_Intron NM_014758.2 NP_055573 Q92543 SNX19_HUMAN sorting nexin 19 45 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) ACGTTGACCAGAAGGTGTATG 0.587000 20 71 0 0 1 0 0 TUBE1 51175 broad.mit.edu 37 6 112400906 112400906 + Missense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:112400906C>A ENST00000368662.5 - 6 456 c.378G>T c.(376-378)gaG>gaT p.E126D TUBE1_ENST00000604814.1_5'UTR NM_016262.4 NP_057346.1 Q9UJT0 TBE_HUMAN tubulin, epsilon 1 126 centrosome cycle|microtubule-based movement|protein polymerization microtubule|pericentriolar material GTP binding|GTPase activity|structural constituent of cytoskeleton cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 12 all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1) all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) TTCTGAATTTCTCTAAAATCT 0.358000 20 25 1.01871e-10 1.06258e-10 1 1 0 KMT2D 8085 broad.mit.edu 37 12 49447270 49447270 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:49447270G>A ENST00000301067.7 - 6 827 c.828C>T c.(826-828)tgC>tgT p.C276C NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TGCAGGCTTGGCACACTTTGC 0.557000 6 16 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22806745 22806745 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr18:22806745C>T ENST00000361524.3 - 4 1285 c.1137G>A c.(1135-1137)aaG>aaA p.K379K ZNF521_ENST00000584787.1_Silent_p.K159K|ZNF521_ENST00000538137.2_Silent_p.K379K NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 379 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding p.K379N(1) NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TCCCTCGACTCTTTGGGATTG 0.532000 T PAX5 ALL 20 77 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1272679 1272679 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:1272679G>A ENST00000447027.1 + 31 14636 c.14578G>A c.(14578-14580)Gtg>Atg p.V4860M MUC5B_ENST00000529681.1_Missense_Mutation_p.V4857M Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4857 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TATAGCCACCGTGATGGTGCC 0.632000 32 138 0 0 1 0 0 CBFA2T2 9139 broad.mit.edu 37 20 32210977 32210977 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:32210977G>C ENST00000492345.1 + 7 1192 c.507G>C c.(505-507)caG>caC p.Q169H CBFA2T2_ENST00000359606.3_Missense_Mutation_p.Q208H|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.Q169H|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.Q169H|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.Q169H|CBFA2T2_ENST00000346541.3_Missense_Mutation_p.Q198H|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.Q198H|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.Q189H O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 2 198 TAFH. nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2) 20 CGGCCAAGCAGACCCCATCCC 0.582000 32 129 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105419487 105419487 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:105419487C>T ENST00000333244.5 - 7 2420 c.2301G>A c.(2299-2301)aaG>aaA p.K767K AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 767 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTTTGGGCATCTTCAAACTGG 0.617000 46 25 0 0 1 0 0 TPP2 7174 broad.mit.edu 37 13 103275268 103275268 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:103275268C>T ENST00000376052.3 + 6 678 c.662C>T c.(661-663)tCt>tTt p.S221F TPP2_ENST00000376065.4_Missense_Mutation_p.S221F P29144 TPP2_HUMAN tripeptidyl peptidase II 221 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTGAGTAAATCTACCGTGTTG 0.343000 23 109 0 0 1 0 0 FAM3D 131177 broad.mit.edu 37 3 58631354 58631354 + Splice_Site SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:58631354C>G ENST00000358781.2 - 5 456 c.e5-1 NM_138805.2 NP_620160.1 Q96BQ1 FAM3D_HUMAN family with sequence similarity 3, member D negative regulation of insulin secretion extracellular region cytokine activity large_intestine(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169) TTTTTAACCTCTGGGGAGGAA 0.587000 57 34 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42694696 42694696 + Silent SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:42694696C>A ENST00000358131.5 + 6 1459 c.1251C>A c.(1249-1251)ccC>ccA p.P417P TOX2_ENST00000372999.1_Silent_p.P393P|TOX2_ENST00000423191.2_Silent_p.P393P|TOX2_ENST00000341197.4_Silent_p.P435P|TOX2_ENST00000435864.2_3'UTR NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 417 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) TGCCCACCCCCATGGCACTCC 0.677000 48 25 2.47907e-22 2.69769e-22 1 1 0 SEC23B 10483 broad.mit.edu 37 20 18535017 18535017 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:18535017G>A ENST00000336714.3 + 18 2563 c.2131G>A c.(2131-2133)Gag>Aag p.E711K SEC23B_ENST00000377465.1_Missense_Mutation_p.E711K|SEC23B_ENST00000377475.3_Missense_Mutation_p.E711K|SEC23B_ENST00000262544.2_Missense_Mutation_p.E711K NM_006363.4|NM_032985.4|NM_032986.3 NP_006354.2|NP_116780.1|NP_116781.1 Q15437 SC23B_HUMAN Sec23 homolog B (S. cerevisiae) 711 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 32 CATCAACACGGAGCATGGAGG 0.458000 78 63 0 0 1 0 0 NFE2 4778 broad.mit.edu 37 12 54686942 54686942 + Nonsense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:54686942G>C ENST00000540264.2 - 2 847 c.338C>G c.(337-339)tCa>tGa p.S113* RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Nonsense_Mutation_p.S113*|NFE2_ENST00000553070.1_Nonsense_Mutation_p.S113*|NFE2_ENST00000312156.4_Nonsense_Mutation_p.S113* Q16621 NFE2_HUMAN nuclear factor, erythroid 2 113 Transactivation domain. blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytoplasm|PML body protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding p.S113*(2) breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2) 16 GAGCAGGCCTGAGAGGCTCAG 0.592000 44 108 0 0 1 0 0 CCDC88A 55704 broad.mit.edu 37 2 55523009 55523009 + Nonsense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:55523009G>A ENST00000436346.1 - 31 6116 c.5275C>T c.(5275-5277)Cga>Tga p.R1759* CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.R1731*|CCDC88A_ENST00000413716.2_Intron|CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.R1758*|CCDC88A_ENST00000422883.2_Nonsense_Mutation_p.R260* NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 1759 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 TCAGTTTTTCGAGGACCAGGT 0.438000 36 43 0 0 1 0 0 FAM212A 389119 broad.mit.edu 37 3 49842359 49842359 + Missense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:49842359C>A ENST00000333323.4 + 2 936 c.803C>A c.(802-804)gCa>gAa p.A268E NM_203370.1 NP_976248.1 Q96EL1 CC054_HUMAN family with sequence similarity 212, member A 266 TCACGCTTTGCAGCTCTCATG 0.597000 70 216 1.23719e-20 1.34406e-20 1 1 0 LAPTM4A 9741 broad.mit.edu 37 2 20251240 20251240 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:20251240G>A ENST00000175091.4 - 1 549 c.42C>T c.(40-42)ttC>ttT p.F14F NM_014713.4 NP_055528.1 Q15012 LAP4A_HUMAN lysosomal protein transmembrane 4 alpha 14 transport endomembrane system|Golgi apparatus|integral to membrane endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGGTGCTGTAGAACCGGTCAC 0.642000 13 15 0 0 1 0 0 DIP2B 57609 broad.mit.edu 37 12 51118560 51118560 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:51118560C>T ENST00000301180.5 + 28 3325 c.3291C>T c.(3289-3291)gtC>gtT p.V1097V NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 1097 nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 TTTTCTAGGTCAGCAAAGCAG 0.532000 8 53 0 0 1 0 0 DAB2IP 153090 broad.mit.edu 37 9 124535708 124535708 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:124535708G>A ENST00000408936.3 + 12 3083 c.2901G>A c.(2899-2901)ctG>ctA p.L967L DAB2IP_ENST00000259371.2_Silent_p.L939L|DAB2IP_ENST00000309989.1_Silent_p.L843L Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 967 activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 GTACCCGCCTGAGGCAGCAGT 0.657000 16 8 0 0 1 0 0 IMPG2 50939 broad.mit.edu 37 3 101038512 101038512 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:101038512G>A ENST00000193391.7 - 2 437 c.250C>T c.(250-252)Ctg>Ttg p.L84L NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 84 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TTAGGAAACAGAATAGATCTC 0.428000 27 85 0 0 1 0 0 CCDC73 493860 broad.mit.edu 37 11 32705116 32705116 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:32705116G>C ENST00000531481.1 - 7 671 c.395C>G c.(394-396)tCt>tGt p.S132C CCDC73_ENST00000335185.5_Missense_Mutation_p.S132C|CCDC73_ENST00000534415.1_5'UTR Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 132 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) AGAGTATTTAGAAACCTTGAA 0.328000 29 7 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130292929 130292929 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:130292929G>A ENST00000358511.6 + 7 3138 c.3107G>A c.(3106-3108)aGa>aAa p.R1036K COL6A6_ENST00000453409.2_Missense_Mutation_p.R1036K NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1036 Nonhelical region.|VWFA 6. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 AGCCTCAACAGAGTGCGAATA 0.418000 3 12 0 0 1 0 0 CFL2 1073 broad.mit.edu 37 14 35182587 35182587 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:35182587C>G ENST00000341223.3 - 2 335 c.184G>C c.(184-186)Gat>Cat p.D62H CFL2_ENST00000555765.1_Missense_Mutation_p.D45H|CFL2_ENST00000298159.6_Missense_Mutation_p.D62H|CFL2_ENST00000556161.1_Missense_Mutation_p.D45H NM_001243645.1|NM_021914.7 NP_001230574.1|NP_068733.1 Q9Y281 COF2_HUMAN cofilin 2 (muscle) 62 ADF-H. cytoplasm|cytoskeleton|nuclear matrix actin binding breast(3)|endometrium(2)|lung(3) 8 Breast(36;0.0361)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814) GBM - Glioblastoma multiforme(112;0.0424) TCTACAGTATCACCAATGTCA 0.398000 20 28 0 0 1 0 0 SLC52A1 55065 broad.mit.edu 37 17 4937171 4937171 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:4937171C>G ENST00000512825.2 - 3 2024 c.613G>C c.(613-615)Gtc>Ctc p.V205L SLC52A1_ENST00000424747.1_Missense_Mutation_p.V205L|SLC52A1_ENST00000254853.5_Missense_Mutation_p.V205L Q9NWF4 RFT_HUMAN solute carrier family 52 (riboflavin transporter), member 1 205 integral to plasma membrane receptor activity|riboflavin transporter activity GCTGAAGTGACCAGAAGGGCA 0.622000 30 189 0 0 1 0 0 CTIF 9811 broad.mit.edu 37 18 46287980 46287980 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr18:46287980G>A ENST00000256413.3 + 9 1586 c.1291G>A c.(1291-1293)Gct>Act p.A431T CTIF_ENST00000382998.4_Missense_Mutation_p.A433T NM_014772.2 NP_055587.1 O43310 CTIF_HUMAN CBP80/20-dependent translation initiation factor 431 MIF4G. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 31 CGCCTTCACCGCTGCCAAGCT 0.617000 35 100 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141765569 141765569 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:141765569C>T ENST00000475668.2 + 40 4762 c.4708C>T c.(4708-4710)Cgc>Tgc p.R1570C MGAM_ENST00000549489.2_Intron O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1570 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GATGTGTGTTCGCTGGATGCA 0.483000 21 15 0 0 1 0 0 WDR60 55112 broad.mit.edu 37 7 158672547 158672547 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:158672547C>T ENST00000407559.3 + 5 904 c.746C>T c.(745-747)tCt>tTt p.S249F NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 249 NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) AATTCATTCTCTGACAAAGGG 0.398000 12 11 0 0 1 0 0 OBSL1 23363 broad.mit.edu 37 2 220432452 220432452 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:220432452G>A ENST00000404537.1 - 3 1578 c.1522C>T c.(1522-1524)Ctc>Ttc p.L508F OBSL1_ENST00000373873.4_Missense_Mutation_p.L508F|OBSL1_ENST00000373876.1_Missense_Mutation_p.L508F|OBSL1_ENST00000289656.3_Missense_Mutation_p.L95F|OBSL1_ENST00000265318.4_Missense_Mutation_p.L508F|OBSL1_ENST00000603926.1_Missense_Mutation_p.L508F NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 508 cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) TTTACTCTGAGAAGCGTAGTG 0.597000 22 66 0 0 1 0 0 RNF6 6049 broad.mit.edu 37 13 26788716 26788716 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:26788716C>T ENST00000381588.4 - 5 2055 c.1303G>A c.(1303-1305)Gaa>Aaa p.E435K RNF6_ENST00000399762.2_Missense_Mutation_p.E79K|RNF6_ENST00000346166.3_Missense_Mutation_p.E435K|RNF6_ENST00000381570.3_Missense_Mutation_p.E435K|RNF6_ENST00000468480.1_Intron NM_005977.3 NP_005968.1 Q9Y252 RNF6_HUMAN ring finger protein (C3H2C3 type) 6 435 negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process axon|cytoplasm|PML body androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2) 23 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245) CTATTGCTTTCAATAGTGACT 0.438000 39 126 0 0 1 0 0 STX3 6809 broad.mit.edu 37 11 59560641 59560641 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:59560641C>T ENST00000535361.1 + 7 1083 c.536C>T c.(535-537)tCt>tTt p.S179F STX3_ENST00000529177.1_Missense_Mutation_p.S179F|STX3_ENST00000437946.2_Missense_Mutation_p.S82F|STX3_ENST00000300150.7_Missense_Mutation_p.S148F|STX3_ENST00000337979.4_Missense_Mutation_p.S179F Q13277 STX3_HUMAN syntaxin 3 179 cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule arachidonic acid binding|SNAP receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1) 13 ATCTTCACTTCTGGGGTGAGT 0.562000 20 14 0 0 1 0 0 COX15 1355 broad.mit.edu 37 10 101480768 101480768 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:101480768G>C ENST00000370483.5 - 6 858 c.808C>G c.(808-810)Ctg>Gtg p.L270V COX15_ENST00000016171.5_Missense_Mutation_p.L270V|CUTC_ENST00000493385.1_Intron NM_004376.5|NM_078470.4 NP_004367.2|NP_510870.1 Q7KZN9 COX15_HUMAN cytochrome c oxidase assembly homolog 15 (yeast) 270 heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Colorectal(252;0.234) Epithelial(162;3.08e-10)|all cancers(201;2.43e-08) AGGAACACCAGACCTGCTGTT 0.463000 7 13 0 0 1 0 0 SMURF2 64750 broad.mit.edu 37 17 62543775 62543775 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:62543775G>C ENST00000262435.9 - 17 2201 c.2014C>G c.(2014-2016)Ctt>Gtt p.L672V NM_022739.3 NP_073576.1 Q9HAU4 SMUF2_HUMAN SMAD specific E3 ubiquitin protein ligase 2 672 HECT. BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex identical protein binding|SMAD binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4) 22 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;9.88e-12) ACAAACTGAAGCAATCTTGCT 0.517000 101 106 0 0 1 0 0 SCEL 8796 broad.mit.edu 37 13 78163292 78163292 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:78163292C>T ENST00000535157.1 + 9 663 c.493C>T c.(493-495)Cac>Tac p.H165Y SCEL_ENST00000377246.3_Missense_Mutation_p.H187Y|SCEL_ENST00000349847.3_Missense_Mutation_p.H187Y NM_001160706.1 NP_001154178.1 O95171 SCEL_HUMAN sciellin 187 embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) ACCAGGTGTTCACCCTCCAAT 0.393000 14 70 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21607760 21607760 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:21607760C>T ENST00000392288.2 + 4 2408 c.2299C>T c.(2299-2301)Cat>Tat p.H767Y ZNF493_ENST00000355504.4_Missense_Mutation_p.H639Y|CTD-2561J22.3_ENST00000600810.1_Intron NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 639 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 TATTGGAATTCATACTGAAGA 0.378000 12 6 0 0 1 0 0 AKT1 207 broad.mit.edu 37 14 105242100 105242100 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:105242100G>A ENST00000554581.1 - 4 1804 c.324C>T c.(322-324)gaC>gaT p.D108D AKT1_ENST00000407796.2_Silent_p.D108D|AKT1_ENST00000555528.1_Silent_p.D108D|AKT1_ENST00000349310.3_Silent_p.D108D|AKT1_ENST00000544168.1_Silent_p.D46D|AKT1_ENST00000402615.2_Silent_p.D108D|AKT1_ENST00000554848.1_Silent_p.D108D P31749 AKT1_HUMAN v-akt murine thymoma viral oncogene homolog 1 108 PH. activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) TCTTGAGGCCGTCAGCCACAG 0.617000 1 Mis """breast, colorectal, ovarian, NSCLC""" 21 7 0 0 1 0 0 ADAM22 53616 broad.mit.edu 37 7 87757967 87757967 + Silent SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:87757967G>C ENST00000398204.4 + 9 1052 c.729G>C c.(727-729)ctG>ctC p.L243L ADAM22_ENST00000398209.3_Silent_p.L243L|ADAM22_ENST00000265727.7_Silent_p.L243L|ADAM22_ENST00000439864.1_Silent_p.L243L|ADAM22_ENST00000398201.4_Silent_p.L243L|ADAM22_ENST00000315984.7_Silent_p.L243L NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 243 Peptidase M12B. 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) ACATTGAACTGATGATTGTGA 0.383000 31 51 0 0 1 0 0 RCVRN 5957 broad.mit.edu 37 17 9808346 9808346 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:9808346C>T ENST00000226193.5 - 1 592 c.152G>A c.(151-153)aGc>aAc p.S51N NM_002903.2 NP_002894.1 P35243 RECO_HUMAN recoverin 51 EF-hand 1. visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1) 12 GGCGTAGATGCTCTGGAACTG 0.602000 6 12 0 0 1 0 0 OC90 729330 broad.mit.edu 37 8 133044290 133044290 + Missense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:133044290C>A ENST00000262283.5 - 16 1604 c.1505G>T c.(1504-1506)aGa>aTa p.R502I OC90_ENST00000603859.1_Missense_Mutation_p.R290I|OC90_ENST00000254627.3_Missense_Mutation_p.R290I|OC90_ENST00000443356.2_Missense_Mutation_p.R306I Q02509 OC90_HUMAN otoconin 90 306 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) GAAGGTGAATCTGTCACAGGC 0.547000 41 275 1.47857e-17 1.59569e-17 1 1 0 PAPOLB 56903 broad.mit.edu 37 7 4899851 4899851 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:4899851C>G ENST00000404991.1 - 1 1774 c.1588G>C c.(1588-1590)Gaa>Caa p.E530Q RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron NM_020144.4 NP_064529.4 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 530 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) ATGCTGTTTTCACAGCCTGCA 0.468000 54 44 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167096654 167096654 + Nonsense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:167096654C>A ENST00000361200.2 + 6 2452 c.2286C>A c.(2284-2286)tgC>tgA p.C762* DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Nonsense_Mutation_p.C762*|DUSP27_ENST00000443333.1_Nonsense_Mutation_p.C762* Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 762 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CGGCTAGCTGCCTGGGGGATG 0.562000 102 33 6.13486e-44 6.74319e-44 1 1 0 NEB 4703 broad.mit.edu 37 2 152468805 152468805 + Silent SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:152468805C>G ENST00000427231.2 - 78 11902 c.11700G>C c.(11698-11700)ctG>ctC p.L3900L NEB_ENST00000604864.1_Silent_p.L3900L|NEB_ENST00000603639.1_Silent_p.L3900L|NEB_ENST00000409198.1_Silent_p.L3657L|NEB_ENST00000397345.3_Silent_p.L3900L|NEB_ENST00000172853.10_Silent_p.L3657L NM_001164507.1|NM_001271208.1 NP_001157979|NP_001258137.1 P20929 NEBU_HUMAN nebulin 3900 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TCCTGTCACTCAGGATTTCTC 0.473000 49 6 0 0 1 0 0 OR3A4P 390756 broad.mit.edu 37 17 3213613 3213613 + RNA SNP G G T rs142355510 TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:3213613G>T ENST00000573491.1 - 0 359 CCATGGATCTGGGGAACTCAG 0.512000 37 146 1.00001e-27 1.09183e-27 1 1 0 MYH9 4627 broad.mit.edu 37 22 36681357 36681357 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:36681357C>T ENST00000216181.5 - 38 5523 c.5293G>A c.(5293-5295)Gac>Aac p.D1765N MYH9_ENST00000475726.1_5'UTR NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1765 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 AGGTTCAGGTCGGTGTTGATC 0.617000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 36 118 0 0 1 0 0 ZNF230 7773 broad.mit.edu 37 19 44514657 44514657 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:44514657G>C ENST00000429154.2 + 5 694 c.466G>C c.(466-468)Gat>Cat p.D156H NM_006300.3 NP_006291.2 Q9UIE0 ZN230_HUMAN zinc finger protein 230 156 KRNB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2) 22 Prostate(69;0.0352) TGCCATCTTTGATCCTCCTCA 0.453000 79 117 0 0 1 0 0 IDH3B 3420 broad.mit.edu 37 20 2640753 2640753 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:2640753G>C ENST00000380843.4 - 9 868 c.838C>G c.(838-840)Ctg>Gtg p.L280V IDH3B_ENST00000380851.5_Missense_Mutation_p.L280V|IDH3B_ENST00000488299.1_5'UTR NM_006899.3 NP_008830.2 O43837 IDH3B_HUMAN isocitrate dehydrogenase 3 (NAD+) beta 280 isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1) 14 NADH(DB00157) CCAGCAGCCAGATTGTCAATA 0.517000 38 55 0 0 1 0 0 LRRC8E 80131 broad.mit.edu 37 19 7964521 7964521 + Nonsense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:7964521C>T ENST00000306708.6 + 3 1215 c.1114C>T c.(1114-1116)Cag>Tag p.Q372* AC010336.1_ENST00000539278.1_3'UTR NM_001268284.1|NM_001268285.1|NM_025061.4 NP_001255213.1|NP_001255214.1|NP_079337.2 Q6NSJ5 LRC8E_HUMAN leucine rich repeat containing 8 family, member E 372 integral to membrane p.Q372*(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10) 35 CCTCATCGATCAGTACGACTC 0.572000 17 49 0 0 1 0 0 DAPK1 1612 broad.mit.edu 37 9 90283556 90283556 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:90283556G>C ENST00000469640.2 + 19 2343 c.1968G>C c.(1966-1968)gaG>gaC p.E656D DAPK1_ENST00000466188.1_3'UTR|DAPK1_ENST00000358077.5_Missense_Mutation_p.E656D|DAPK1_ENST00000472284.1_Missense_Mutation_p.E656D|DAPK1_ENST00000408954.3_Missense_Mutation_p.E656D|DAPK1_ENST00000491893.1_Missense_Mutation_p.E656D P53355 DAPK1_HUMAN death-associated protein kinase 1 656 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 AACAGCACGAGCACGTAGCAG 0.428000 Chronic Lymphocytic Leukemia, Familial Clustering of 58 209 0 0 1 0 0 CHERP 10523 broad.mit.edu 37 19 16652774 16652774 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:16652774C>G ENST00000546361.2 - 2 257 c.106G>C c.(106-108)Gag>Cag p.E36Q CHERP_ENST00000198939.6_Missense_Mutation_p.E36Q|CTD-3222D19.2_ENST00000409035.1_Intron NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 36 cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 TTCTGCTTCTCCATAGTCATC 0.532000 21 40 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49698105 49698105 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:49698105G>A ENST00000296452.4 + 6 8941 c.8827G>A c.(8827-8829)Gag>Aag p.E2943K NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2943 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CCTGCTCCGGGAGCTGGACCG 0.657000 7 22 0 0 1 0 0 MIS18BP1 55320 broad.mit.edu 37 14 45693269 45693269 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:45693269C>T ENST00000310806.4 - 11 2979 c.2521G>A c.(2521-2523)Gaa>Aaa p.E841K NM_018353.4 NP_060823.3 Q6P0N0 M18BP_HUMAN MIS18 binding protein 1 841 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 39 TGAAGAGTTTCTTTGACGGAA 0.358000 5 12 0 0 1 0 0 C15orf59 388135 broad.mit.edu 37 15 74032703 74032703 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:74032703G>A ENST00000569673.1 - 3 1641 c.437C>T c.(436-438)aCg>aTg p.T146M C15orf59_ENST00000379822.4_Missense_Mutation_p.T146M|C15orf59_ENST00000558834.1_5'UTR Q2T9L4 CO059_HUMAN chromosome 15 open reading frame 59 146 breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GGGGATGGGCGTGCCACCATT 0.667000 19 64 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32912648 32912648 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:32912648G>T ENST00000544455.1 + 11 4383 c.4156G>T c.(4156-4158)Gat>Tat p.D1386Y BRCA2_ENST00000380152.3_Missense_Mutation_p.D1386Y NM_000059.3 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 1386 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AGATTTGTCAGATTTAACTTT 0.338000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 10 36 0.00136819 0.0013916 1 1 0 BOLA3 388962 broad.mit.edu 37 2 74369455 74369455 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:74369455C>G ENST00000327428.5 - 3 321 c.202G>C c.(202-204)Gaa>Caa p.E68Q BOLA3_ENST00000295326.4_Intron NM_212552.2 NP_997717.2 Q53S33 BOLA3_HUMAN bolA family member 3 68 extracellular region large_intestine(1)|lung(1) 2 TCTTCTGATTCAATTTTAATT 0.423000 34 65 0 0 1 0 0 CYP2A6 1548 broad.mit.edu 37 19 41351241 41351241 + Silent SNP T T C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:41351241T>C ENST00000301141.5 - 7 1139 c.1119A>G c.(1117-1119)agA>agG p.R373R CTC-490E21.12_ENST00000601627.1_Intron NM_000762.5 NP_000753 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 6 373 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2) 37 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) CCTTTTTGACTCTGCGGGCCA 0.572000 5 270 0 0 1 0 0 TTC16 158248 broad.mit.edu 37 9 130489656 130489656 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:130489656C>T ENST00000373289.3 + 12 1756 c.1676C>T c.(1675-1677)cCt>cTt p.P559L TTC16_ENST00000489226.1_3'UTR NM_144965.1 NP_659402.1 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 559 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 AAGGCCACCCCTGAGATTCCG 0.577000 15 11 0 0 1 0 0 OTOP1 133060 broad.mit.edu 37 4 4199382 4199382 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:4199382G>A ENST00000296358.4 - 5 1203 c.1179C>T c.(1177-1179)ctC>ctT p.L393L NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 393 biomineral tissue development extracellular space|integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGCCCACCAAGAGGTCCGAGT 0.597000 55 62 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62254674 62254674 + Nonsense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:62254674C>A ENST00000261517.5 - 34 3572 c.3499G>T c.(3499-3501)Gag>Tag p.E1167* VPS13C_ENST00000395898.3_Nonsense_Mutation_p.E1124*|VPS13C_ENST00000395896.4_Nonsense_Mutation_p.E1167*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.E1124* NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1167 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 AAATCCCCCTCAGTAGCATCT 0.388000 121 92 1.18608e-55 1.31474e-55 1 1 0 C1orf173 127254 broad.mit.edu 37 1 75037069 75037069 + Nonsense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:75037069G>C ENST00000326665.5 - 14 4543 c.4325C>G c.(4324-4326)tCa>tGa p.S1442* C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1442 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCCTAGCCCTGAGGTCTTCCG 0.612000 58 159 0 0 1 0 0 RARG 5916 broad.mit.edu 37 12 53607440 53607440 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:53607440C>G ENST00000425354.2 - 8 1345 c.858G>C c.(856-858)atG>atC p.M286I RARG_ENST00000543726.1_Missense_Mutation_p.M264I|RARG_ENST00000338561.5_Missense_Mutation_p.M275I|RARG_ENST00000394426.1_Missense_Mutation_p.M286I|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Missense_Mutation_p.M214I NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 286 Ligand-binding. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) CGGAGAAGGTCATGGTGTCCT 0.607000 OREG0021862 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 91 65 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128936700 128936700 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:128936700G>C ENST00000310343.9 - 6 552 c.553C>G c.(553-555)Ctg>Gtg p.L185V ARHGAP32_ENST00000524655.1_Missense_Mutation_p.L111V NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 185 PX; atypical. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 TAAATACACAGATGAAGATGT 0.373000 5 28 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62849139 62849139 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:62849139C>T ENST00000512091.2 + 18 3597 c.2850C>T c.(2848-2850)ttC>ttT p.F950F LPHN3_ENST00000506700.1_Silent_p.F950F|LPHN3_ENST00000514157.1_Silent_p.F950F|LPHN3_ENST00000506720.1_Silent_p.F1018F|LPHN3_ENST00000507625.1_Silent_p.F1018F|LPHN3_ENST00000507164.1_Silent_p.F1018F|LPHN3_ENST00000514996.1_Silent_p.F950F|LPHN3_ENST00000504896.1_Silent_p.F950F|LPHN3_ENST00000511324.1_Silent_p.F1018F|LPHN3_ENST00000514591.1_Silent_p.F950F|LPHN3_ENST00000509896.1_Silent_p.F1018F|LPHN3_ENST00000506746.1_Silent_p.F1018F|LPHN3_ENST00000508946.1_Silent_p.F950F|LPHN3_ENST00000545650.1_Silent_p.F950F|LPHN3_ENST00000508693.1_Silent_p.F1018F Q9HAR2 LPHN3_HUMAN latrophilin 3 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TACATTTCTTCTTCTTGGCTG 0.438000 10 18 0 0 1 0 0 ZNF544 27300 broad.mit.edu 37 19 58772799 58772799 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:58772799G>T ENST00000269829.4 + 7 1301 c.827G>T c.(826-828)gGa>gTa p.G276V ZNF544_ENST00000595981.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.G248V|ZNF544_ENST00000600044.1_Missense_Mutation_p.G248V|ZNF544_ENST00000600220.1_Missense_Mutation_p.G248V|ZNF544_ENST00000599953.1_Missense_Mutation_p.G134V|ZNF544_ENST00000596652.1_Missense_Mutation_p.G276V|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596825.1_3'UTR NM_014480.2 NP_055295.2 Q6NX49 ZN544_HUMAN zinc finger protein 544 276 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 18 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) AAGGATTATGGAAACCTCTTC 0.413000 12 80 2.61681e-11 2.73386e-11 1 1 0 TFR2 7036 broad.mit.edu 37 7 100231073 100231073 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:100231073C>T ENST00000462107.1 - 5 867 c.580G>A c.(580-582)Gac>Aac p.D194N TFR2_ENST00000223051.3_Missense_Mutation_p.D194N|TFR2_ENST00000431692.1_Missense_Mutation_p.D194N Q9UP52 TFR2_HUMAN transferrin receptor 2 194 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) TAGTGCGTGTCGGTCCACACG 0.741000 20 29 0 0 1 0 0 FAM171A1 221061 broad.mit.edu 37 10 15326105 15326105 + Splice_Site SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:15326105C>G ENST00000378116.4 - 2 104 c.e2-1 NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 AACGTCACCTCTGGAGGTAGA 0.527000 15 65 0 0 1 0 0 TFRC 7037 broad.mit.edu 37 3 195780393 195780393 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:195780393G>A ENST00000360110.4 - 18 2105 c.1936C>T c.(1936-1938)Cgt>Tgt p.R646C TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.R364C|TFRC_ENST00000392396.3_Missense_Mutation_p.R646C|TFRC_ENST00000420415.1_Missense_Mutation_p.R565C NM_001128148.1 NP_001121620.1 P02786 TFR1_HUMAN transferrin receptor 646 Ligand-binding. cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity p.R646S(1) NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) AAGTCTCCACGAGCAGAATAC 0.403000 T BCL6 NHL 68 59 0 0 1 0 0 RANBP6 26953 broad.mit.edu 37 9 6015556 6015556 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:6015556C>G ENST00000259569.5 - 1 62 c.52G>C c.(52-54)Gag>Cag p.E18Q RANBP6_ENST00000485372.1_5'UTR NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 18 protein transport cytoplasm|nucleus binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) TGGTAAAACTCTTGCTTTTCT 0.552000 30 304 0 0 1 0 0 RANBP17 64901 broad.mit.edu 37 5 170610195 170610195 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:170610195G>A ENST00000523189.1 + 17 2054 c.1890G>A c.(1888-1890)gtG>gtA p.V630V RANBP17_ENST00000521759.1_Intron NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 630 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AAAAACTTGTGAAGATAGATG 0.264000 T TRD@ ALL 18 1 0 0 1 0 0 TIMM44 10469 broad.mit.edu 37 19 7992542 7992542 + Splice_Site SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:7992542C>T ENST00000270538.3 - 12 1507 c.1239G>A c.(1237-1239)ccG>ccA p.P413P TIMM44_ENST00000598968.1_5'UTR NM_006351.3 NP_006342.2 O43615 TIM44_HUMAN translocase of inner mitochondrial membrane 44 homolog (yeast) 413 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 17 CCTCACTCACCGGGTCACCCT 0.627000 106 88 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100363105 100363105 + RNA SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:100363105C>T ENST00000542585.1 + 0 4546 ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ATCCGGGCTTCGTCCTCAGTG 0.627000 16 25 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13092445 13092445 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr18:13092445C>T ENST00000506447.1 + 34 6253 c.6173C>T c.(6172-6174)tCa>tTa p.S2058L CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Missense_Mutation_p.S1462L|CEP192_ENST00000430049.2_Missense_Mutation_p.S1583L NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1653 p.S2058L(1)|p.S1462L(1) NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 ATTATACTTTCAGTAATTGGA 0.333000 12 49 0 0 1 0 0 MAP1S 55201 broad.mit.edu 37 19 17831750 17831750 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:17831750C>T ENST00000324096.4 + 2 275 c.124C>T c.(124-126)Cgg>Tgg p.R42W MAP1S_ENST00000544059.2_Missense_Mutation_p.R16W|MAP1S_ENST00000597681.1_Intron NM_018174.4 NP_060644.4 Q66K74 MAP1S_HUMAN microtubule-associated protein 1S 42 Necessary for the microtubule-organizing center localization. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 25 ACCAGGCATCCGGTCTTGGGA 0.582000 8 128 0 0 1 0 0 TPI1 7167 broad.mit.edu 37 12 6976718 6976718 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:6976718C>T ENST00000229270.4 + 1 436 c.99C>T c.(97-99)ctC>ctT p.L33L TPI1_ENST00000396705.5_5'UTR NM_001159287.1 NP_001152759.1 P60174 TPIS_HUMAN triosephosphate isomerase 1 0 fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt cytosol triose-phosphate isomerase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2) 19 TTCAGCGCCTCGGCTCCAGCG 0.642000 9 25 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57642777 57642777 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:57642777G>A ENST00000254181.4 + 4 3188 c.2734G>A c.(2734-2736)Gaa>Aaa p.E912K USP29_ENST00000598197.1_Missense_Mutation_p.E912K NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 912 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CCCTCAGGGGGAATACGAAGG 0.468000 76 92 0 0 1 0 0 PAQR9 344838 broad.mit.edu 37 3 142682017 142682017 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:142682017G>A ENST00000340634.3 - 1 161 c.162C>T c.(160-162)ttC>ttT p.F54F RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA NM_198504.2 NP_940906.1 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 54 integral to membrane receptor activity endometrium(2)|large_intestine(7)|lung(12)|prostate(1) 22 AGCACTCCACGAAGTCGTCGG 0.687000 7 5 0 0 1 0 0 ZMYND8 23613 broad.mit.edu 37 20 45875047 45875047 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:45875047C>G ENST00000311275.7 - 14 2182 c.1929G>C c.(1927-1929)gaG>gaC p.E643D ZMYND8_ENST00000536340.1_Missense_Mutation_p.E670D|ZMYND8_ENST00000540497.1_Missense_Mutation_p.E591D|ZMYND8_ENST00000471951.2_Missense_Mutation_p.E663D|ZMYND8_ENST00000461685.1_Missense_Mutation_p.E663D|ZMYND8_ENST00000352431.2_Missense_Mutation_p.E663D|ZMYND8_ENST00000446994.2_Missense_Mutation_p.E580D|ZMYND8_ENST00000372023.3_Missense_Mutation_p.E638D|ZMYND8_ENST00000355972.4_Missense_Mutation_p.E643D|ZMYND8_ENST00000458360.2_Missense_Mutation_p.E638D|ZMYND8_ENST00000360911.3_Missense_Mutation_p.E638D|ZMYND8_ENST00000262975.4_Missense_Mutation_p.E643D|ZMYND8_ENST00000396281.4_Missense_Mutation_p.E643D|ZMYND8_ENST00000468376.2_5'UTR NM_001281772.1|NM_001281778.1|NM_001281783.1 NP_001268701.1|NP_001268707.1|NP_001268712.1 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 643 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) CCTCTTTAATCTCCACTGGGT 0.512000 42 158 0 0 1 0 0 CEACAM19 56971 broad.mit.edu 37 19 45175238 45175238 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:45175238C>T ENST00000358777.4 + 1 515 c.35C>T c.(34-36)tCa>tTa p.S12L CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000403660.3_Missense_Mutation_p.S12L NM_001127893.1|NM_020219.3 NP_001121365.1|NP_064604.2 Q7Z692 CEA19_HUMAN carcinoembryonic antigen-related cell adhesion molecule 19 12 integral to membrane breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5) 11 Lung NSC(12;0.00308)|all_lung(12;0.00806) Prostate(69;0.0376) GGCTGCTTCTCAAAGAGCCTC 0.562000 12 17 0 0 1 0 0 ST3GAL6 10402 broad.mit.edu 37 3 98510824 98510824 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:98510824C>T ENST00000265261.6 + 9 964 c.542C>T c.(541-543)tCt>tTt p.S181F ST3GAL6_ENST00000394162.1_Missense_Mutation_p.S299F|ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.S299F NM_001271142.1|NM_001271147.1 NP_001258071.1|NP_001258076.1 Q9Y274 SIA10_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 6 299 amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation integral to Golgi membrane sialyltransferase activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1) 19 GCCACCATGTCTTTGATGAAT 0.373000 23 53 0 0 1 0 0 CLTCL1 8218 broad.mit.edu 37 22 19196576 19196576 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:19196576C>G ENST00000263200.10 - 21 3370 c.3298G>C c.(3298-3300)Gag>Cag p.E1100Q CLTCL1_ENST00000353891.5_Missense_Mutation_p.E1100Q|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1100Q NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 1100 Heavy chain arm.|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) TTGCATCTCTCCGCAAACTCA 0.517000 T ? ALCL 7 16 0 0 1 0 0 ENTPD6 955 broad.mit.edu 37 20 25203528 25203528 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:25203528G>C ENST00000360031.2 + 12 1279 c.1097G>C c.(1096-1098)aGa>aCa p.R366T ENTPD6_ENST00000376652.4_Missense_Mutation_p.R367T|ENTPD6_ENST00000433259.2_Missense_Mutation_p.R333T|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000354989.5_Missense_Mutation_p.R350T NM_001247.2 NP_001238.2 O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 (putative) 367 Golgi membrane|integral to membrane nucleoside-diphosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1) 27 CTTCAAAACAGAGTGCACAGG 0.582000 116 65 0 0 1 0 0 FMO4 2329 broad.mit.edu 37 1 171292305 171292305 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:171292305G>C ENST00000367749.3 + 4 625 c.295G>C c.(295-297)Gac>Cac p.D99H FMO4_ENST00000462992.1_3'UTR NM_002022.1 NP_002013.1 P31512 FMO4_HUMAN flavin containing monooxygenase 4 99 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TGAGCACTTTGACCTCCTGAA 0.373000 32 44 0 0 1 0 0 SLC30A10 55532 broad.mit.edu 37 1 220089088 220089088 + Missense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:220089088C>A ENST00000366926.3 - 4 1322 c.1161G>T c.(1159-1161)ttG>ttT p.L387F SLC30A10_ENST00000536446.1_Missense_Mutation_p.L142F|SLC30A10_ENST00000484079.1_5'UTR NM_018713.2 NP_061183.2 Q6XR72 ZNT10_HUMAN solute carrier family 30, member 10 387 zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 13 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) GGGGTTCCTTCAAGTCCACAT 0.517000 25 130 2.79863e-10 2.9145e-10 1 1 0 MMEL1 79258 broad.mit.edu 37 1 2526322 2526322 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:2526322G>A ENST00000288709.6 - 17 1808 c.1568C>T c.(1567-1569)tCa>tTa p.S523L MMEL1_ENST00000378412.3_Missense_Mutation_p.S532L|MMEL1_ENST00000502556.1_Missense_Mutation_p.S375L NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 532 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) CAGGTCCTCTGAGAAGTTCAG 0.607000 47 41 0 0 1 0 0 POU6F1 5463 broad.mit.edu 37 12 51586129 51586129 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:51586129G>A ENST00000389243.4 - 9 1314 c.375C>T c.(373-375)gtC>gtT p.V125V POU6F1_ENST00000333640.10_Silent_p.V125V|POU6F1_ENST00000550824.1_Silent_p.V125V Q14863 PO6F1_HUMAN POU class 6 homeobox 1 125 Gln/Pro-rich. brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 11 CCAACTGGCTGACGGTGGGGG 0.582000 52 176 0 0 1 0 0 TAS1R3 83756 broad.mit.edu 37 1 1268136 1268136 + Nonsense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:1268136C>T ENST00000339381.5 + 3 1257 c.1225C>T c.(1225-1227)Cag>Tag p.Q409* NM_152228.1 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 409 detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) CAACACTCTTCAGTGCAACGC 0.637000 15 51 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112452258 112452258 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:112452258C>T ENST00000230538.7 - 29 4277 c.3880G>A c.(3880-3882)Gat>Aat p.D1294N LAMA4_ENST00000389463.4_Missense_Mutation_p.D1287N|LAMA4_ENST00000424408.2_Missense_Mutation_p.D1287N|LAMA4_ENST00000522006.1_Missense_Mutation_p.D1287N NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 1294 Laminin G-like 3. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding p.D1287Y(1)|p.M1286_D1287>IY(1) NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CCCTTTACATCCATGATGACA 0.458000 23 42 0 0 1 0 0 RBM28 55131 broad.mit.edu 37 7 127978389 127978389 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:127978389C>T ENST00000223073.2 - 5 570 c.456G>A c.(454-456)aaG>aaA p.K152K RBM28_ENST00000415472.2_Intron NM_018077.2 NP_060547.2 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 RRM 2. mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2) 21 AACCGCGCATCTTCCCATCTG 0.418000 14 51 0 0 1 0 0 CYP39A1 51302 broad.mit.edu 37 6 46593206 46593206 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:46593206C>T ENST00000275016.2 - 7 1083 c.880G>A c.(880-882)Gat>Aat p.D294N NM_016593.3 NP_057677.2 Q9NYL5 CP39A_HUMAN cytochrome P450, family 39, subfamily A, polypeptide 1 294 bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity EIF3K/CYP39A1(2) NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2) 21 TTGTGGATATCAGGATGAGAA 0.343000 142 112 0 0 1 0 0 TRIM32 22954 broad.mit.edu 37 9 119461344 119461344 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:119461344G>A ENST00000450136.1 + 2 1484 c.1323G>A c.(1321-1323)ctG>ctA p.L441L ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Silent_p.L441L|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron NM_001099679.1|NM_012210.3 NP_001093149.1|NP_036342.2 Q13049 TRI32_HUMAN tripartite motif containing 32 441 fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV nucleus myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 26 GCCAGGGGCTGATTGGTGTGA 0.547000 63 211 0 0 1 0 0 ACTR8 93973 broad.mit.edu 37 3 53905383 53905383 + Silent SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:53905383C>A ENST00000335754.3 - 11 1543 c.1443G>T c.(1441-1443)ctG>ctT p.L481L ACTR8_ENST00000231909.7_Silent_p.L186L|ACTR8_ENST00000482349.1_Silent_p.L370L NM_022899.4 NP_075050.3 Q9H981 ARP8_HUMAN ARP8 actin-related protein 8 homolog (yeast) 481 cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) TGCCGGCCATCAGGCCATCTC 0.547000 87 78 2.65435e-51 2.9373e-51 1 1 0 LCA5 167691 broad.mit.edu 37 6 80223183 80223183 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:80223183C>T ENST00000392959.1 - 4 1077 c.466G>A c.(466-468)Gaa>Aaa p.E156K LCA5_ENST00000369846.4_Missense_Mutation_p.E156K|LCA5_ENST00000467898.3_Missense_Mutation_p.E156K NM_181714.3 NP_859065.2 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 156 protein transport cilium axoneme|microtubule basal body protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) TGTGAGATTTCATTTTCGGCA 0.378000 18 16 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62293851 62293851 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:62293851C>G ENST00000378024.4 - 5 8312 c.8038G>C c.(8038-8040)Gat>Cat p.D2680H AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2680 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ATGTTAACATCAGGGCCTTCA 0.498000 53 159 0 0 1 0 0 FAM83F 113828 broad.mit.edu 37 22 40417887 40417887 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:40417887G>A ENST00000333407.6 + 4 1467 c.1373G>A c.(1372-1374)aGc>aAc p.S458N FAM83F_ENST00000473717.1_Missense_Mutation_p.S290N NM_138435.2 NP_612444.2 Q8NEG4 FA83F_HUMAN family with sequence similarity 83, member F breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2) 14 GGCATGGCCAGCTCTGTCTCC 0.657000 14 80 0 0 1 0 0 SOCS5 9655 broad.mit.edu 37 2 46986049 46986049 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:46986049C>T ENST00000306503.5 + 2 552 c.380C>T c.(379-381)tCc>tTc p.S127F SOCS5_ENST00000394861.2_Missense_Mutation_p.S127F NM_014011.4 NP_054730.1 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 127 cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2) 22 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) AAAAAACATTCCTGTTCTACA 0.443000 18 37 0 0 1 0 0 SMG5 23381 broad.mit.edu 37 1 156230257 156230257 + Silent SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:156230257G>C ENST00000361813.5 - 15 2412 c.2268C>G c.(2266-2268)ctC>ctG p.L756L SMG5_ENST00000368267.5_Intron NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 756 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) CTAAGGTGCTGAGCAGGGGCC 0.562000 49 161 0 0 1 0 0 RPAP1 26015 broad.mit.edu 37 15 41816160 41816160 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:41816160C>T ENST00000304330.4 - 17 2361 c.2245G>A c.(2245-2247)Gag>Aag p.E749K RPAP1_ENST00000561603.1_Missense_Mutation_p.E749K NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 749 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) AGGCTGGCCTCAGCAGAATCA 0.587000 8 14 0 0 1 0 0 VPS26B 112936 broad.mit.edu 37 11 134113161 134113161 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:134113161G>C ENST00000281187.5 + 4 1172 c.694G>C c.(694-696)Gag>Cag p.E232Q VPS26B_ENST00000525095.2_Missense_Mutation_p.E232Q NM_052875.3 NP_443107.1 Q4G0F5 VP26B_HUMAN vacuolar protein sorting 26 homolog B (S. pombe) 232 protein transport|vacuolar transport cytosol|retromer complex breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7) 14 all_hematologic(175;0.127) all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-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;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216) AGCCAAGTACGAGATCATGGA 0.537000 9 22 0 0 1 0 0 HHATL 57467 broad.mit.edu 37 3 42734575 42734575 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:42734575G>A ENST00000441594.1 - 11 1645 c.1384C>T c.(1384-1386)Ctc>Ttc p.L462F HHATL_ENST00000310417.5_Missense_Mutation_p.L462F NM_020707.3 NP_065758.3 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 462 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3) 19 KIRC - Kidney renal clear cell carcinoma(284;0.215) TCACCTGTGAGTAGCAGGCGC 0.567000 4 264 0 0 1 0 0 DNM2 1785 broad.mit.edu 37 19 10934530 10934530 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:10934530G>C ENST00000314646.5 + 17 2012 c.1848G>C c.(1846-1848)tgG>tgC p.W616C DNM2_ENST00000355667.6_Missense_Mutation_p.W616C|DNM2_ENST00000359692.6_Missense_Mutation_p.W612C|DNM2_ENST00000585892.1_Missense_Mutation_p.W616C|DNM2_ENST00000408974.4_Missense_Mutation_p.W612C|DNM2_ENST00000389253.4_Missense_Mutation_p.W616C P50570 DYN2_HUMAN dynamin 2 616 PH. G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) TGGACAGCTGGAAGGCCTCGT 0.657000 """F, N, Splice, Mis, O""" ETP ALL 30 49 0 0 1 0 0 YME1L1 10730 broad.mit.edu 37 10 27437957 27437957 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:27437957G>A ENST00000326799.3 - 2 194 c.46C>T c.(46-48)Ctg>Ttg p.L16L YME1L1_ENST00000375972.3_Silent_p.L16L|YME1L1_ENST00000477432.1_Silent_p.L16L|YME1L1_ENST00000376016.3_Silent_p.L16L NM_139312.2 NP_647473.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 16 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 AGATGACTCAGAGGAACTGTA 0.338000 28 139 0 0 1 0 0 HIP1R 9026 broad.mit.edu 37 12 123338615 123338615 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:123338615C>T ENST00000253083.4 + 8 728 c.603C>T c.(601-603)atC>atT p.I201I NM_003959.1 NP_003950.1 O75146 HIP1R_HUMAN huntingtin interacting protein 1 related 201 receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) ACACGGCCATCGCCGTATCCC 0.602000 88 246 0 0 1 0 0 TUBE1 51175 broad.mit.edu 37 6 112400898 112400898 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:112400898C>T ENST00000368662.5 - 6 464 c.386G>A c.(385-387)aGa>aAa p.R129K TUBE1_ENST00000604814.1_5'UTR NM_016262.4 NP_057346.1 Q9UJT0 TBE_HUMAN tubulin, epsilon 1 129 centrosome cycle|microtubule-based movement|protein polymerization microtubule|pericentriolar material GTP binding|GTPase activity|structural constituent of cytoskeleton cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 12 all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1) all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) TGCCGACTTTCTGAATTTCTC 0.368000 20 28 0 0 1 0 0 BMP6 654 broad.mit.edu 37 6 7727603 7727603 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:7727603C>T ENST00000283147.6 + 1 574 c.415C>T c.(415-417)Ctg>Ttg p.L139L NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 139 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) CATGCTGGATCTGTACAACGC 0.706000 19 55 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24387794 24387794 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:24387794C>T ENST00000330966.7 - 34 4111 c.3949G>A c.(3949-3951)Gag>Aag p.E1317K RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.E1314K|MYOM3_ENST00000338909.5_Missense_Mutation_p.E207K Q5VTT5 MYOM3_HUMAN myomesin 3 1314 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) ATTGCATCCTCAAAAGCTATA 0.502000 10 27 0 0 1 0 0 SS18 6760 broad.mit.edu 37 18 23612474 23612474 + Silent SNP A A T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr18:23612474A>T ENST00000415083.2 - 10 1174 c.1119T>A c.(1117-1119)ggT>ggA p.G373G SS18_ENST00000269137.7_Silent_p.G342G|SS18_ENST00000539849.1_Silent_p.G291G|SS18_ENST00000542743.1_Silent_p.G290G|SS18_ENST00000542420.2_Silent_p.G350G|SS18_ENST00000545952.1_Silent_p.G290G NM_001007559.1|NM_005637.2 NP_001007560.1|NP_005628.2 Q15532 SSXT_HUMAN synovial sarcoma translocation, chromosome 18 373 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12) endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1) 19 all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124) GATACTGAGGACCTGGACCAC 0.493000 T """SSX1, SSX2""" synovial sarcoma 22 57 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39782127 39782127 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:39782127G>C ENST00000564288.1 + 28 4291 c.3514G>C c.(3514-3516)Gag>Cag p.E1172Q MACF1_ENST00000361689.2_Missense_Mutation_p.E1177Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E1209Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E1177Q|MACF1_ENST00000372915.3_Missense_Mutation_p.E1177Q|MACF1_ENST00000317713.7_Missense_Mutation_p.E1177Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E1177Q|MACF1_ENST00000476350.1_3'UTR Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 1177 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) 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) CAAAGGTTATGAGATTAAGCT 0.433000 82 50 0 0 1 0 0 ICOS 29851 broad.mit.edu 37 2 204820542 204820542 + Missense_Mutation SNP A A T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:204820542A>T ENST00000316386.6 + 2 309 c.242A>T c.(241-243)aAa>aTa p.K81I ICOS_ENST00000435193.1_Missense_Mutation_p.K81I NM_012092.3 NP_036224.1 Q9Y6W8 ICOS_HUMAN inducible T-cell co-stimulator 81 Ig-like V-type. immune response|T cell costimulation extracellular region breast(1)|large_intestine(1)|lung(4) 6 AAGAGTCTGAAATTCTGCCAT 0.388000 29 63 0 0 1 0 0 PHF1 5252 broad.mit.edu 37 6 33380128 33380128 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:33380128C>T ENST00000374516.3 + 2 359 c.88C>T c.(88-90)Cgg>Tgg p.R30W PHF1_ENST00000374512.3_Missense_Mutation_p.R30W|PHF1_ENST00000459809.1_3'UTR NM_024165.2 NP_077084.1 O43189 PHF1_HUMAN PHD finger protein 1 30 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(999;0.0443) CCCCAGGCCTCGGCTTTGGGA 0.607000 28 7 0 0 1 0 0 POU6F1 5463 broad.mit.edu 37 12 51585498 51585498 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:51585498G>C ENST00000389243.4 - 10 1380 c.441C>G c.(439-441)atC>atG p.I147M POU6F1_ENST00000333640.10_Missense_Mutation_p.I147M|POU6F1_ENST00000550824.1_Missense_Mutation_p.I147M Q14863 PO6F1_HUMAN POU class 6 homeobox 1 147 POU-specific. brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 11 CAAACTCCCGGATCTCTTCTA 0.557000 52 118 0 0 1 0 0 EPS15 2060 broad.mit.edu 37 1 51913720 51913720 + Missense_Mutation SNP T T A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:51913720T>A ENST00000371733.3 - 9 745 c.649A>T c.(649-651)Acg>Tcg p.T217S EPS15_ENST00000371730.2_Missense_Mutation_p.T217S NM_001981.2 NP_001972.1 P42566 EPS15_HUMAN epidermal growth factor receptor pathway substrate 15 217 cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding p.0?(1) endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2) 35 ATACTGACCGTTTTTCTCTTA 0.463000 T MLL ALL 19 59 0 0 1 0 0 GABPB2 126626 broad.mit.edu 37 1 151065682 151065682 + Silent SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:151065682G>T ENST00000368918.3 + 4 622 c.291G>T c.(289-291)gtG>gtT p.V97V GABPB2_ENST00000368916.1_Silent_p.V97V|GABPB2_ENST00000368917.1_Silent_p.V97V NM_144618.2 NP_653219.1 Q8TAK5 GABP2_HUMAN GA binding protein transcription factor, beta subunit 2 97 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus protein heterodimerization activity|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) GTGCAGATGTGAATGCCAAGG 0.443000 90 168 2.51308e-46 2.76692e-46 1 1 0 IFI16 3428 broad.mit.edu 37 1 158985757 158985757 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:158985757G>C ENST00000295809.7 + 3 616 c.361G>C c.(361-363)Gag>Cag p.E121Q IFI16_ENST00000368132.3_Missense_Mutation_p.E121Q|IFI16_ENST00000430894.2_Missense_Mutation_p.E125Q|IFI16_ENST00000368131.4_Missense_Mutation_p.E121Q|IFI16_ENST00000448393.2_Missense_Mutation_p.E121Q|IFI16_ENST00000359709.3_Missense_Mutation_p.E121Q|IFI16_ENST00000340979.6_Missense_Mutation_p.E121Q Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 121 Lys-rich. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0429) TGAAGGAGCAGAGGCAACTCC 0.522000 33 84 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60509192 60509192 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:60509192G>C ENST00000360469.5 + 15 2546 c.2458G>C c.(2458-2460)Gat>Cat p.D820H CDH4_ENST00000543233.1_Missense_Mutation_p.D746H NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 820 adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GCGTCGCGTGGATGAGCGGCC 0.677000 11 74 0 0 1 0 0 KIAA1432 57589 broad.mit.edu 37 9 5772683 5772683 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:5772683G>A ENST00000414202.2 + 24 3927 c.3736G>A c.(3736-3738)Gag>Aag p.E1246K KIAA1432_ENST00000449720.2_Missense_Mutation_p.E1130K|KIAA1432_ENST00000418622.3_Missense_Mutation_p.E1167K NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 1246 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) GTCAGAGCTGGAGCACATTTC 0.468000 19 128 0 0 1 0 0 KLF13 51621 broad.mit.edu 37 15 31619856 31619856 + Silent SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:31619856C>G ENST00000307145.3 + 1 799 c.441C>G c.(439-441)ctC>ctG p.L147L NM_015995.2 NP_057079.2 Q9Y2Y9 KLF13_HUMAN Kruppel-like factor 13 147 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1) 2 all_lung(180;3.71e-11) all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171) AGCCCGGCCTCAGACAAAGGG 0.751000 4 6 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85741262 85741262 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:85741262G>A ENST00000322366.6 - 12 2076 c.1669C>T c.(1669-1671)Ctt>Ttt p.L557F WDFY3_ENST00000295888.4_Missense_Mutation_p.L557F Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 557 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GATCCTTGAAGAAGCACTGTC 0.378000 35 145 0 0 1 0 0 TMEM132A 54972 broad.mit.edu 37 11 60702234 60702234 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:60702234G>A ENST00000005286.4 + 9 1990 c.1837G>A c.(1837-1839)Gag>Aag p.E613K TMEM132A_ENST00000453848.2_Missense_Mutation_p.E612K NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 612 Binds to HSPA5/GRP78 (By similarity). endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 CACCTCCATTGAGGTAAGCAG 0.667000 34 19 0 0 1 0 0 OR1C1 26188 broad.mit.edu 37 1 247920818 247920818 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:247920818C>T ENST00000408896.2 - 1 1164 c.891G>A c.(889-891)atG>atA p.M297I NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M297I(1) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GTCCCCTCTTCATATCCCTGT 0.428000 61 46 0 0 1 0 0 CHST7 56548 broad.mit.edu 37 X 46434158 46434158 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chrX:46434158G>A ENST00000276055.3 + 1 940 c.792G>A c.(790-792)ttG>ttA p.L264L NM_019886.2 NP_063939.2 Q9NS84 CHST7_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7 264 chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity breast(3)|endometrium(2)|kidney(1)|lung(2) 8 TGCCCCTGTTGCGTGATCCAG 0.657000 3 12 0 0 1 0 0 PLXNB3 5365 broad.mit.edu 37 X 153044065 153044065 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chrX:153044065C>G ENST00000538966.1 + 36 5901 c.5630C>G c.(5629-5631)tCt>tGt p.S1877C PLXNB3_ENST00000361971.5_Missense_Mutation_p.S1854C|PLXNB3_ENST00000538776.1_Missense_Mutation_p.S1507C|SRPK3_ENST00000489426.1_5'UTR NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 1854 axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) AACTACACTTCTGCTCCCCAC 0.612000 4 8 0 0 1 0 0 DENND2C 163259 broad.mit.edu 37 1 115147614 115147614 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:115147614C>T ENST00000393274.1 - 11 2221 c.1596G>A c.(1594-1596)gaG>gaA p.E532E DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Silent_p.E475E|DENND2C_ENST00000393277.1_Silent_p.E532E NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 532 UDENN. NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CTTTAAGTCTCTCTTCCATGT 0.343000 12 12 0 0 1 0 0 RALGPS1 9649 broad.mit.edu 37 9 129958857 129958857 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:129958857G>A ENST00000259351.5 + 13 1409 c.1142G>A c.(1141-1143)cGa>cAa p.R381Q RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron NM_014636.2 NP_055451.1 Q5JS13 RGPS1_HUMAN Ral GEF with PH domain and SH3 binding motif 1 381 small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity p.R381Q(1) kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 CGCAGCCCCCGAAGGGGCCTG 0.577000 31 75 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41339643 41339643 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:41339643C>G ENST00000361937.3 - 23 3122 c.2698G>C c.(2698-2700)Gaa>Caa p.E900Q INO80_ENST00000401393.3_Missense_Mutation_p.E900Q Q9ULG1 INO80_HUMAN INO80 complex subunit 900 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TTTGCCATTTCTGCTGGAGAT 0.373000 26 21 0 0 1 0 0 FAM92A1 137392 broad.mit.edu 37 8 94740514 94740514 + Missense_Mutation SNP T T C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:94740514T>C ENST00000518322.1 + 9 1000 c.859T>C c.(859-861)Ttt>Ctt p.F287L FAM92A1_ENST00000517718.1_Missense_Mutation_p.F132L|FAM92A1_ENST00000423990.2_Missense_Mutation_p.F249L|FAM92A1_ENST00000520363.1_3'UTR NM_145269.3 NP_660312.2 A1XBS5 F92A1_HUMAN family with sequence similarity 92, member A1 287 NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1) 7 Breast(36;2.4e-06) BRCA - Breast invasive adenocarcinoma(8;0.0168) AGAAGAAAATTTTCTTAAGTA 0.328000 28 9 0 0 1 0 0 DDX21 9188 broad.mit.edu 37 10 70733307 70733307 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:70733307G>C ENST00000354185.4 + 10 1653 c.1555G>C c.(1555-1557)Gag>Cag p.E519Q NM_001256910.1|NM_004728.3 NP_001243839.1|NP_004719.2 Q9NR30 DDX21_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 21 519 Helicase C-terminal. nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 20 ATAGGATGTAGAGTCCTACAT 0.443000 35 22 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175087808 175087808 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:175087808C>G ENST00000239462.4 + 11 2611 c.2498C>G c.(2497-2499)tCt>tGt p.S833C NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 833 Fibronectin type-III 7. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CACTACACGTCTGCCAACGGA 0.612000 125 42 0 0 1 0 0 ELN 2006 broad.mit.edu 37 7 73474260 73474260 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:73474260C>T ENST00000252034.7 + 23 1858 c.1459C>T c.(1459-1461)Cct>Tct p.P487S ELN_ENST00000357036.5_Missense_Mutation_p.P492S|ELN_ENST00000380562.4_Missense_Mutation_p.P493S|ELN_ENST00000380576.5_Missense_Mutation_p.P468S|ELN_ENST00000380584.4_Missense_Mutation_p.P454S|ELN_ENST00000429192.1_Missense_Mutation_p.P473S|ELN_ENST00000380553.4_Missense_Mutation_p.P351S|ELN_ENST00000320492.7_Missense_Mutation_p.P406S|ELN_ENST00000320399.6_Missense_Mutation_p.P487S|ELN_ENST00000458204.1_Missense_Mutation_p.P477S|ELN_ENST00000380575.4_Missense_Mutation_p.P458S|ELN_ENST00000414324.1_Missense_Mutation_p.P463S|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000445912.1_Missense_Mutation_p.P487S|ELN_ENST00000358929.4_Missense_Mutation_p.P522S NM_000501.2|NM_001278915.1 NP_000492.2|NP_001265844.1 P15502 ELN_HUMAN elastin 516 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) TGGCGTGGCTCCTGGTGTCGG 0.592000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 130 179 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34805961 34805961 + Nonsense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:34805961G>A ENST00000374789.3 - 3 674 c.349C>T c.(349-351)Cag>Tag p.Q117* PARD3_ENST00000346874.4_Nonsense_Mutation_p.Q117*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.Q117*|PARD3_ENST00000340077.5_Nonsense_Mutation_p.Q117*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374776.1_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374794.3_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.Q117*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374773.1_Nonsense_Mutation_p.Q117* NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 117 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) TGGTAAGGCTGAAAGGCTGAG 0.473000 46 78 0 0 1 0 0 NOL6 65083 broad.mit.edu 37 9 33466615 33466615 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:33466615C>T ENST00000379471.2 - 16 2130 c.2043G>A c.(2041-2043)ctG>ctA p.L681L NOL6_ENST00000455041.2_Silent_p.L629L|NOL6_ENST00000464829.1_Intron Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 681 rRNA processing condensed nuclear chromosome|nucleolus RNA binding p.L681L(1) endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) CAGACACGGTCAGTGGGAGAC 0.622000 OREG0019137 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 94 71 0 0 1 0 0 RCVRN 5957 broad.mit.edu 37 17 9808390 9808390 + Silent SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:9808390C>A ENST00000226193.5 - 1 548 c.108G>T c.(106-108)ctG>ctT p.L36L NM_002903.2 NP_002894.1 P35243 RECO_HUMAN recoverin 36 EF-hand 1. visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1) 12 GACAGTCCTTCAGGAAGGACT 0.602000 3 11 0.115264 0.115441 1 1 0 IKBKAP 8518 broad.mit.edu 37 9 111659293 111659293 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:111659293G>T ENST00000374647.5 - 24 2834 c.2527C>A c.(2527-2529)Cat>Aat p.H843N IKBKAP_ENST00000537196.1_Missense_Mutation_p.H494N NM_003640.3 NP_003631.2 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein 843 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 TTCTTTACATGAGATGTAAGT 0.433000 17 76 3.8784e-16 4.14457e-16 1 1 0 DNAH11 8701 broad.mit.edu 37 7 21840770 21840770 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:21840770C>T ENST00000328843.6 + 63 10094 c.10063C>T c.(10063-10065)Ctg>Ttg p.L3355L DNAH11_ENST00000409508.3_Silent_p.L3348L Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3355 Stalk (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GGATCGAAATCTGAGCAGACT 0.373000 Kartagener syndrome 3 10 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 5 86 0 0 1 0 0 RALGPS1 9649 broad.mit.edu 37 9 129728131 129728131 + Missense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:129728131C>A ENST00000259351.5 + 3 333 c.66C>A c.(64-66)agC>agA p.S22R RALGPS1_ENST00000424082.2_Missense_Mutation_p.S22R|RALGPS1_ENST00000394011.3_Missense_Mutation_p.S22R|RALGPS1_ENST00000480993.1_3'UTR|RALGPS1_ENST00000373436.1_Missense_Mutation_p.S22R|RALGPS1_ENST00000373434.1_Missense_Mutation_p.S22R|RALGPS1_ENST00000394022.3_Missense_Mutation_p.S22R NM_014636.2 NP_055451.1 Q5JS13 RGPS1_HUMAN Ral GEF with PH domain and SH3 binding motif 1 22 Poly-Ser. small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 AGGGCAGCAGCAGCTCGGACT 0.542000 19 77 0.000375601 0.000383218 1 1 0 CADM3 57863 broad.mit.edu 37 1 159161862 159161862 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:159161862G>A ENST00000368125.4 + 2 382 c.225G>A c.(223-225)aaG>aaA p.K75K CADM3_ENST00000368124.4_Silent_p.K109K NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 75 Ig-like V-type. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) TTGGGGAGAAGAGAGGTAGTA 0.527000 55 36 0 0 1 0 0 CLK2 1196 broad.mit.edu 37 1 155234440 155234440 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:155234440G>A ENST00000368361.4 - 9 1374 c.1059C>T c.(1057-1059)atC>atT p.I353I CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Silent_p.I351I|CLK2_ENST00000536801.1_Silent_p.I353I|CLK2_ENST00000361168.5_Silent_p.I352I P49760 CLK2_HUMAN CDC-like kinase 2 353 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CCTTACCAAGGATGACTTCTG 0.552000 Other conserved DNA damage response genes 37 156 0 0 1 0 0 FMO4 2329 broad.mit.edu 37 1 171293376 171293376 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:171293376G>C ENST00000367749.3 + 5 751 c.421G>C c.(421-423)Gat>Cat p.D141H FMO4_ENST00000462992.1_3'UTR NM_002022.1 NP_002013.1 P31512 FMO4_HUMAN flavin containing monooxygenase 4 141 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) AGCTGTCTTTGATGCTGTTAT 0.478000 260 469 0 0 1 0 0 NT5C3A 51251 broad.mit.edu 37 7 33066465 33066465 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:33066465G>A ENST00000396152.2 - 3 401 c.99C>T c.(97-99)atC>atT p.I33I AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000242210.7_Silent_p.I72I|NT5C3A_ENST00000409467.1_Silent_p.I21I|NT5C3A_ENST00000409787.1_Silent_p.I33I|NT5C3A_ENST00000405342.1_Silent_p.I33I|NT5C3A_ENST00000610140.1_Silent_p.I67I|NT5C3A_ENST00000381626.2_Silent_p.I21I NM_016489.12 NP_057573.2 5'-nucleotidase, cytosolic IIIA TAAGACCACAGATAATTTCTT 0.368000 13 63 0 0 1 0 0 SDC1 6382 broad.mit.edu 37 2 20405149 20405149 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:20405149C>T ENST00000381150.1 - 3 493 c.103G>A c.(103-105)Gat>Aat p.D35N SDC1_ENST00000254351.4_Missense_Mutation_p.D35N|SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000403076.1_Missense_Mutation_p.D35N NM_001006946.1 NP_001006947 P18827 SDC1_HUMAN syndecan 1 35 lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development cytoplasm|extracellular region|focal adhesion|integral to plasma membrane cytoskeletal protein binding|protein C-terminus binding NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2) 21 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) OV - Ovarian serous cystadenocarcinoma(76;0.221) CCAGAGCCATCTTGATCTTCA 0.557000 50 114 0 0 1 0 0 SMYD4 114826 broad.mit.edu 37 17 1690794 1690794 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:1690794C>G ENST00000305513.7 - 6 1809 c.1642G>C c.(1642-1644)Gtg>Ctg p.V548L NM_052928.2 NP_443160.2 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 548 SET. zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1) 21 ATGAAGGACACGCTGGTGTTG 0.577000 3 18 0 0 1 0 0 SPTBN1 6711 broad.mit.edu 37 2 54858547 54858547 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:54858547G>A ENST00000333896.5 + 15 3709 c.3324G>A c.(3322-3324)atG>atA p.M1108I SPTBN1_ENST00000356805.4_Missense_Mutation_p.M1121I NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 1121 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) ACCAGAAGATGAGGGACATGG 0.587000 75 130 0 0 1 0 0 AFAP1 60312 broad.mit.edu 37 4 7840265 7840265 + Nonsense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:7840265C>A ENST00000420658.1 - 6 984 c.712G>T c.(712-714)Gag>Tag p.E238* AFAP1_ENST00000360265.4_Nonsense_Mutation_p.E238*|AFAP1_ENST00000382543.3_Nonsense_Mutation_p.E238*|AFAP1_ENST00000358461.2_Nonsense_Mutation_p.E238* NM_001134647.1 NP_001128119.1 Q8N556 AFAP1_HUMAN actin filament associated protein 1 238 PH 1. E -> G (in Ref. 1; AAG17055). actin cytoskeleton|cytoplasm|focal adhesion actin binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 AGCCACTGCTCGGCCTGTTCC 0.453000 4 97 1 1 1 1 0 SLC1A4 6509 broad.mit.edu 37 2 65217170 65217170 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:65217170C>T ENST00000234256.3 + 1 636 c.393C>T c.(391-393)ctC>ctT p.L131L SLC1A4_ENST00000531327.1_Intron|SLC1A4_ENST00000493121.1_Intron NM_003038.4 NP_003029.2 P43007 SATT_HUMAN solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 131 cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic intermediate filament|melanosome chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1) 13 L-Alanine(DB00160) CCTCGGCGCTCGCCGTGGCCT 0.687000 21 3 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216465553 216465553 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:216465553C>G ENST00000366943.2 - 10 2190 c.1804G>C c.(1804-1806)Gga>Cga p.G602R USH2A_ENST00000307340.3_Missense_Mutation_p.G602R|USH2A_ENST00000366942.3_Missense_Mutation_p.G602R O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 602 Laminin EGF-like 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CAAACTCCTCCTCCCCCTCTG 0.423000 HNSCC(13;0.011) 35 173 0 0 1 0 0 LIMK2 3985 broad.mit.edu 37 22 31673068 31673068 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:31673068C>G ENST00000340552.4 + 15 2233 c.2003C>G c.(2002-2004)tCt>tGt p.S668C LIMK2_ENST00000331728.4_Intron|LIMK2_ENST00000467301.1_Intron|LIMK2_ENST00000406516.1_Missense_Mutation_p.S611C|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000333611.4_Intron NM_001031801.1 NP_001026971.1 P53671 LIMK2_HUMAN LIM domain kinase 2 0 mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 GCCTTCATCTCTGGCCTGCTG 0.592000 24 84 0 0 1 0 0 DZIP1 22873 broad.mit.edu 37 13 96238358 96238358 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:96238358C>T ENST00000347108.3 - 19 2683 c.2251G>A c.(2251-2253)Gaa>Aaa p.E751K DZIP1_ENST00000361156.3_Missense_Mutation_p.E732K|DZIP1_ENST00000376829.2_Missense_Mutation_p.E751K|DZIP1_ENST00000361396.2_Missense_Mutation_p.E732K Q86YF9 DZIP1_HUMAN DAZ interacting zinc finger protein 1 751 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) AACATCTTTTCAACTTTTTCA 0.308000 10 26 0 0 1 0 0 MPP6 51678 broad.mit.edu 37 7 24681456 24681456 + Missense_Mutation SNP T T G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:24681456T>G ENST00000222644.5 + 3 489 c.239T>G c.(238-240)tTg>tGg p.L80W MPP6_ENST00000409761.1_5'UTR|MPP6_ENST00000396475.2_Missense_Mutation_p.L80W Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) L27 2. protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 GTGGCAGAATTGGTTGGTATA 0.378000 11 113 0 0 1 0 0 SHC2 25759 broad.mit.edu 37 19 418997 418997 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:418997C>G ENST00000264554.6 - 12 1679 c.1680G>C c.(1678-1680)caG>caC p.Q560H NM_012435.2 NP_036567.2 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) transforming protein 2 560 SH2. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTGCCCGTTCTGCAGGTGGT 0.677000 6 7 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56505039 56505039 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:56505039G>T ENST00000370754.5 - 17 2292 c.2293C>A c.(2293-2295)Ccc>Acc p.P765T DST_ENST00000446842.2_Missense_Mutation_p.P261T|DST_ENST00000312431.6_Missense_Mutation_p.P587T|DST_ENST00000370765.6_Missense_Mutation_p.P261T|DST_ENST00000370788.2_Missense_Mutation_p.P587T|DST_ENST00000370769.4_Missense_Mutation_p.P587T|DST_ENST00000361203.3_Missense_Mutation_p.P587T|DST_ENST00000421834.2_Missense_Mutation_p.P587T|DST_ENST00000244364.6_Missense_Mutation_p.P261T|DST_ENST00000518935.1_Missense_Mutation_p.P261T Q03001 DYST_HUMAN dystonin 587 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTTAGAAGGGGTTTTCGGATC 0.368000 7 35 8.12818e-05 8.30599e-05 1 1 0 PRMT7 54496 broad.mit.edu 37 16 68389659 68389659 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:68389659G>C ENST00000339507.5 + 17 2514 c.1684G>C c.(1684-1686)Gag>Cag p.E562Q PRMT7_ENST00000449359.3_Missense_Mutation_p.E512Q|PRMT7_ENST00000348497.4_Missense_Mutation_p.E414Q|PRMT7_ENST00000441236.1_Missense_Mutation_p.E512Q Q9NVM4 ANM7_HUMAN protein arginine methyltransferase 7 562 cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) CAGGGAAGCTGAGCCCCACCC 0.677000 10 8 0 0 1 0 0 CCDC135 84229 broad.mit.edu 37 16 57731954 57731954 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:57731954G>A ENST00000360716.3 + 3 314 c.93G>A c.(91-93)atG>atA p.M31I CCDC135_ENST00000394337.4_Missense_Mutation_p.M31I|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_Missense_Mutation_p.M31I Q8IY82 CC135_HUMAN coiled-coil domain containing 135 31 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 TGGAGAAAATGATGAGGCCAG 0.582000 10 13 0 0 1 0 0 BACH2 60468 broad.mit.edu 37 6 90661329 90661329 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:90661329C>T ENST00000257749.4 - 7 1203 c.496G>A c.(496-498)Gaa>Aaa p.E166K BACH2_ENST00000343122.3_Missense_Mutation_p.E166K|RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.E166K NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 166 Poly-Glu. nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) TCCTCCTCTTCATCCTCCTCC 0.612000 57 41 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57188413 57188413 + Nonsense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:57188413C>A ENST00000331162.4 - 5 979 c.709G>T c.(709-711)Gga>Tga p.G237* NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 237 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) GGTTTCTCTCCAGTATGAATT 0.393000 5 35 0.0381472 0.038323 1 1 0 GPI 2821 broad.mit.edu 37 19 34884965 34884965 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:34884965C>T ENST00000415930.3 + 12 1259 c.1089C>T c.(1087-1089)ttC>ttT p.F363F GPI_ENST00000356487.5_Silent_p.F352F|GPI_ENST00000586425.1_Silent_p.F352F NM_001184722.1 NP_001171651.1 P06744 G6PI_HUMAN glucose-6-phosphate isomerase 352 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 25 Esophageal squamous(110;0.162) CTGCGTACTTCCAGCAGGTAC 0.577000 42 50 0 0 1 0 0 EEF1G 1937 broad.mit.edu 37 11 62327634 62327634 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:62327634C>G ENST00000378019.3 - 9 1302 c.1212G>C c.(1210-1212)aaG>aaC p.K404N EEF1G_ENST00000329251.4_Missense_Mutation_p.K354N|MIR3654_ENST00000496634.2_3'UTR P26641 EF1G_HUMAN eukaryotic translation elongation factor 1 gamma 354 EF-1-gamma C-terminal. response to virus cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CGAAGGCATTCTTCCTCAGCT 0.517000 45 19 0 0 1 0 0 KRT18 3875 broad.mit.edu 37 12 53345344 53345344 + Missense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:53345344C>A ENST00000550600.1 + 5 791 c.737C>A c.(736-738)gCc>gAc p.A246D KRT18_ENST00000388835.3_Missense_Mutation_p.A246D|KRT18_ENST00000388837.2_Missense_Mutation_p.A246D P05783 K1C18_HUMAN keratin 18 246 Interaction with DNAJB6.|Linker 12.|Necessary for interaction with PNN.|Rod. A -> S (in Ref. 8; CAA31369). anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis centriolar satellite|keratin filament|perinuclear region of cytoplasm protein binding|structural molecule activity central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 11 CAGGACCTCGCCAAGATCATG 0.562000 12 30 7.93312e-07 8.15764e-07 1 1 0 TM4SF4 7104 broad.mit.edu 37 3 149220466 149220466 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:149220466G>C ENST00000305354.4 + 5 1499 c.595G>C c.(595-597)Gat>Cat p.D199H NM_004617.3 NP_004608.1 P48230 T4S4_HUMAN transmembrane 4 L six family member 4 199 integral to membrane large_intestine(3)|lung(4)|ovary(1)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) CTTCTAGGGAGATGGACCCGT 0.403000 63 42 0 0 1 0 0 COG8 84342 broad.mit.edu 37 16 69370435 69370435 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:69370435C>T ENST00000306875.4 - 2 672 c.558G>A c.(556-558)agG>agA p.R186R RP11-343C2.9_ENST00000563634.1_Silent_p.R61R|RP11-343C2.7_ENST00000564737.1_3'UTR|COG8_ENST00000562081.1_Silent_p.R186R NM_032382.4 NP_115758.3 Q96MW5 COG8_HUMAN component of oligomeric golgi complex 8 186 protein transport Golgi membrane|Golgi transport complex breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1) 9 AAGAGTATTTCCTCTCCAGTC 0.488000 9 36 0 0 1 0 0 METTL7A 25840 broad.mit.edu 37 12 51319290 51319290 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:51319290C>T ENST00000548553.1 + 2 1450 c.469C>T c.(469-471)Ctc>Ttc p.L157F METTL7A_ENST00000332160.4_Missense_Mutation_p.L157F Q9H8H3 MET7A_HUMAN methyltransferase like 7A 157 endoplasmic reticulum|lipid particle|membrane methyltransferase activity p.L157F(1) endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1) 10 GGAGCGGATTCTCCGCGAGGT 0.562000 18 36 0 0 1 0 0 CCDC80 151887 broad.mit.edu 37 3 112358139 112358139 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:112358139C>T ENST00000206423.3 - 2 1567 c.614G>A c.(613-615)aGc>aAc p.S205N CCDC80_ENST00000439685.2_Missense_Mutation_p.S205N NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 205 p.S205N(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 CTGGCCCTCGCTGGTGATCCT 0.577000 59 61 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21607244 21607244 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:21607244C>T ENST00000392288.2 + 4 1892 c.1783C>T c.(1783-1785)Cat>Tat p.H595Y ZNF493_ENST00000355504.4_Missense_Mutation_p.H467Y|CTD-2561J22.3_ENST00000600810.1_Intron NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 467 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 CAAGATAATTCATACTGATAA 0.333000 7 1 0 0 1 0 0 PER1 5187 broad.mit.edu 37 17 8045717 8045717 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:8045717C>T ENST00000317276.4 - 21 3556 c.3319G>A c.(3319-3321)Gag>Aag p.E1107K PER1_ENST00000581082.1_Missense_Mutation_p.E1084K NM_002616.2 NP_002607.2 O15534 PER1_HUMAN period circadian clock 1 1107 circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 gccccagcctcagcctcggAA 0.622000 T ETV6 """AML, CMML""" Other conserved DNA damage response genes 30 1 0 0 1 0 0 ATF6 22926 broad.mit.edu 37 1 161789498 161789498 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:161789498G>C ENST00000367942.3 + 8 1052 c.985G>C c.(985-987)Gaa>Caa p.E329Q NM_007348.3 NP_031374.2 P18850 ATF6A_HUMAN activating transcription factor 6 329 positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1) 34 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) GAAGAAGAAAGAATATATGCT 0.413000 7 93 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189931201 189931201 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:189931201G>A ENST00000374866.3 - 23 1752 c.1478C>T c.(1477-1479)cCg>cTg p.P493L NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 493 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TGGGCCTATCGGACCCTGAAT 0.478000 51 136 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89424091 89424091 + RNA SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:89424091C>A ENST00000532352.1 + 0 1554 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 ATCACAGTGTCTATGAAACAT 0.373000 5 44 0.00307968 0.00311782 1 1 0 CHD6 84181 broad.mit.edu 37 20 40127937 40127937 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:40127937C>T ENST00000373233.3 - 6 1090 c.913G>A c.(913-915)Gag>Aag p.E305K CHD6_ENST00000309279.7_Missense_Mutation_p.E305K|CHD6_ENST00000373222.3_Missense_Mutation_p.E340K NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 305 Chromo 1. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) CCACCAACCTCCTGGACAGTC 0.403000 13 5 0 0 1 0 0 IRF2BPL 64207 broad.mit.edu 37 14 77492329 77492329 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:77492329G>A ENST00000238647.3 - 1 2705 c.1807C>T c.(1807-1809)Ctg>Ttg p.L603L NM_024496.3 NP_078772.1 Q9H1B7 I2BPL_HUMAN interferon regulatory factor 2 binding protein-like 603 Pro-rich. nucleus endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 11 TGGGGTCCCAGAGGTgggggc 0.716000 3 4 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38633219 38633219 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:38633219C>T ENST00000222345.6 + 12 3911 c.3402C>T c.(3400-3402)gtC>gtT p.V1134V NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 1134 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CTAGGCCTGTCAGCTTCCCAG 0.617000 OREG0025445 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 337 316 0 0 1 0 0 WDR55 54853 broad.mit.edu 37 5 140048746 140048746 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:140048746G>A ENST00000358337.5 + 6 980 c.743G>A c.(742-744)cGc>cAc p.R248H WDR55_ENST00000520764.1_3'UTR NM_017706.4 NP_060176 Q9H6Y2 WDR55_HUMAN WD repeat domain 55 248 rRNA processing cytoplasm|nucleolus NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAAGTGACCGCTTTGCCCTG 0.532000 8 72 0 0 1 0 0 CARS2 79587 broad.mit.edu 37 13 111340160 111340160 + Missense_Mutation SNP G G A rs143602497 TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:111340160G>A ENST00000257347.4 - 5 542 c.479C>T c.(478-480)aCg>aTg p.T160M CARS2_ENST00000535398.1_5'UTR NM_024537.2 NP_078813.1 Q9HA77 SYCM_HUMAN cysteinyl-tRNA synthetase 2, mitochondrial (putative) 160 cysteinyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|cysteine-tRNA ligase activity|metal ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1) 13 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.163) L-Cysteine(DB00151) CAGGTACACCGTGGGTGGGAG 0.507000 47 131 0 0 1 0 0 CDK3 1018 broad.mit.edu 37 17 73998377 73998377 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:73998377C>T ENST00000425876.2 + 4 452 c.364C>T c.(364-366)Cgg>Tgg p.R122W TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Missense_Mutation_p.R122W Q00526 CDK3_HUMAN cyclin-dependent kinase 3 122 Protein kinase. cell division|cell proliferation|mitosis ATP binding|cyclin-dependent protein kinase activity central_nervous_system(1) 1 CCACTCACATCGGGTCATCCA 0.627000 77 82 0 0 1 0 0 ATP6V1C1 528 broad.mit.edu 37 8 104064968 104064968 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:104064968C>G ENST00000395862.3 + 6 550 c.391C>G c.(391-393)Cag>Gag p.Q131E ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.Q131E|ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.Q56E|ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.Q56E NM_001695.4 NP_001686.1 P21283 VATC1_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1 131 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1) 13 Lung NSC(17;0.000427)|all_lung(17;0.000533) OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133) GGGAGTAACTCAGATTGATAA 0.318000 9 74 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45127107 45127107 + RNA SNP C C G rs147409399 by1000genomes TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:45127107C>G ENST00000575173.1 - 0 418 CCTTCGTTCACCCAAGAGCAT 0.592000 4 138 0 0 1 0 0 TBL1XR1 79718 broad.mit.edu 37 3 176755921 176755921 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:176755921G>C ENST00000430069.1 - 12 1346 c.1087C>G c.(1087-1089)Ctc>Gtc p.L363V TBL1XR1_ENST00000457928.2_Missense_Mutation_p.L363V Q9BZK7 TBL1R_HUMAN transducin (beta)-like 1 X-linked receptor 1 363 canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214) Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215) OV - Ovarian serous cystadenocarcinoma(80;9.83e-31) GAGGCCAAGAGATTGCCAGTT 0.383000 21 23 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31591626 31591626 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:31591626C>T ENST00000376033.2 + 3 464 c.230C>T c.(229-231)tCa>tTa p.S77L PRRC2A_ENST00000376007.4_Missense_Mutation_p.S77L|PRRC2A_ENST00000469577.1_Intron NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 77 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CCCAATGTCTCACTAGTGCCA 0.547000 19 89 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144871718 144871718 + Missense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:144871718C>A ENST00000369359.4 - 35 5690 c.5652G>T c.(5650-5652)atG>atT p.M1884I PDE4DIP_ENST00000530740.1_Missense_Mutation_p.M1833I|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.M1748I|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.M1748I|PDE4DIP_ENST00000313382.9_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1748 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GCTTCTGCAGCATCTGTAGCT 0.582000 T PDGFRB MPD 10 184 0.00229938 0.00233146 1 1 0 ADAMTS16 170690 broad.mit.edu 37 5 5239991 5239991 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:5239991G>A ENST00000274181.7 + 16 2614 c.2476G>A c.(2476-2478)Gag>Aag p.E826K NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 826 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 TAATGAGCCCGAGAACTTAAT 0.517000 27 118 0 0 1 0 0 NDUFV3 4731 broad.mit.edu 37 21 44323929 44323929 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr21:44323929G>C ENST00000354250.2 + 3 876 c.807G>C c.(805-807)caG>caC p.Q269H NDUFV3_ENST00000340344.4_Intron|NDUFV3_ENST00000460259.1_3'UTR NM_021075.3 NP_066553.3 P56181 NDUV3_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa 39 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I|nucleus NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 10 STAD - Stomach adenocarcinoma(101;0.0606) NADH(DB00157) AACAATTGCAGAAAACATTTA 0.383000 36 73 0 0 1 0 0 EFHB 151651 broad.mit.edu 37 3 19975088 19975088 + Silent SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:19975088C>A ENST00000295824.9 - 1 584 c.423G>T c.(421-423)ggG>ggT p.G141G EFHB_ENST00000344838.4_Intron|EFHB_ENST00000498089.1_5'UTR NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 141 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 CTCTCCTGCTCCCTGCAGCCT 0.493000 21 82 4.26978e-12 4.49667e-12 1 1 0 HOXD13 3239 broad.mit.edu 37 2 176958267 176958267 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:176958267G>A ENST00000392539.3 + 1 649 c.649G>A c.(649-651)Gag>Aag p.E217K NM_000523.3 NP_000514.2 P35453 HXD13_HUMAN homeobox D13 217 skeletal system development|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678) CGGCTCCGGGGAGCCTCGGCA 0.617000 T NUP98 AML* 67 12 0 0 1 0 0 CSTF2 1478 broad.mit.edu 37 X 100088252 100088252 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chrX:100088252G>A ENST00000415585.2 + 12 1373 c.1351G>A c.(1351-1353)Gag>Aag p.E451K CSTF2_ENST00000372972.2_Missense_Mutation_p.E431K P33240 CSTF2_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa 431 12 X 5 AA tandem repeats of M-E-A-R-[AG]. mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cleavage body|mRNA cleavage and polyadenylation specificity factor complex nucleotide binding|protein binding|RNA binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 13 CAGAGGATTAGAGGCCCGTGC 0.587000 14 3 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152193146 152193146 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:152193146G>C ENST00000368801.2 - 3 1034 c.959C>G c.(958-960)tCc>tGc p.S320C FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 320 keratinization calcium ion binding|protein binding p.S320Y(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCGTGGCTGGAGGAGTGCCC 0.607000 27 119 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138606490 138606490 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:138606490G>A ENST00000298480.5 + 2 252 c.178G>A c.(178-180)Gag>Aag p.E60K KCNT1_ENST00000486577.2_Missense_Mutation_p.E7K|KCNT1_ENST00000487664.1_Intron|KCNT1_ENST00000371757.2_Missense_Mutation_p.E60K B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 60 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CCTGGACTCCGAGGTGCTGCC 0.751000 19 39 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 25990551 25990551 + Nonsense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:25990551G>A ENST00000435504.4 - 8 969 c.676C>T c.(676-678)Caa>Taa p.Q226* ASXL2_ENST00000404843.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000336112.4_Nonsense_Mutation_p.Q198* Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 226 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTGAGTTTTGAGGGCTGCCT 0.418000 77 12 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42796294 42796294 + Silent SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:42796294G>C ENST00000572681.2 + 13 5738 c.5670G>C c.(5668-5670)ctG>ctC p.L1890L CIC_ENST00000160740.3_Silent_p.L981L|CIC_ENST00000575354.2_Silent_p.L981L Q96RK0 CIC_HUMAN capicua transcriptional repressor 981 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) TGCCGCCCCTGAGCCCAGCCA 0.652000 """Mis, F, S""" oligodendroglioma 80 64 0 0 1 0 0 MOGS 7841 broad.mit.edu 37 2 74689799 74689799 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:74689799C>G ENST00000233616.4 - 4 1279 c.1117G>C c.(1117-1119)Gag>Cag p.E373Q MOGS_ENST00000452063.2_Missense_Mutation_p.E267Q|MOGS_ENST00000409065.1_3'UTR NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 373 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 AAGGTCTTCTCAAAGCGCTCT 0.587000 33 108 0 0 1 0 0 ARSI 340075 broad.mit.edu 37 5 149676860 149676860 + Missense_Mutation SNP G G A rs142267983 TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:149676860G>A ENST00000328668.7 - 2 2206 c.1627C>T c.(1627-1629)Cgt>Tgt p.R543C NM_001012301.2 NP_001012301.1 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I 543 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCTTGCGACGACCCCGGGAG 0.547000 42 96 0 0 1 0 0 AOX1 316 broad.mit.edu 37 2 201469496 201469496 + Silent SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:201469496G>T ENST00000374700.2 + 9 988 c.747G>T c.(745-747)ctG>ctT p.L249L NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 249 FAD-binding PCMH-type. inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) CCGTGACCCTGAAGGAACTGC 0.448000 85 41 3.27315e-48 3.61594e-48 1 1 0 ARID4B 51742 broad.mit.edu 37 1 235383646 235383646 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:235383646C>T ENST00000264183.3 - 15 1875 c.1378G>A c.(1378-1380)Gaa>Aaa p.E460K ARID4B_ENST00000349213.3_Missense_Mutation_p.E460K|ARID4B_ENST00000366603.2_Missense_Mutation_p.E460K NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) 460 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) TCTTTTCTTTCAATTTCATCC 0.308000 8 31 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141625324 141625324 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:141625324G>C ENST00000389484.3 - 27 5385 c.4414C>G c.(4414-4416)Ccc>Gcc p.P1472A NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1472 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACAGCAAAGGGATGGGAAAGG 0.428000 TSP Lung(27;0.18) 4 78 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71391400 71391400 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:71391400G>A ENST00000392650.3 - 25 3486 c.3486C>T c.(3484-3486)atC>atT p.I1162I SDK2_ENST00000388726.3_Silent_p.I1162I NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1162 Fibronectin type-III 6. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 CCAGGTCCTCGATGGTGTAGT 0.652000 11 59 0 0 1 0 0 RAP1GDS1 5910 broad.mit.edu 37 4 99325699 99325699 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:99325699G>C ENST00000408927.3 + 7 822 c.709G>C c.(709-711)Gaa>Caa p.E237Q RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.E146Q|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.E238Q|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.E188Q|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.E238Q|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.E189Q NM_001100426.1|NM_001100427.1|NM_021159.4 NP_001093896.1|NP_001093897.1|NP_066982.3 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 237 binding|GTPase activator activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1) 28 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) GAAACAAATAGAACATGATAA 0.318000 T NUP98 T-ALL 9 25 0 0 1 0 0 RAB40C 57799 broad.mit.edu 37 16 677451 677451 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:677451C>T ENST00000535977.1 + 7 897 c.675C>T c.(673-675)ttC>ttT p.F225F RAB40C_ENST00000248139.3_Silent_p.F225F|RAB40C_ENST00000538492.1_Silent_p.F225F|RAB40C_ENST00000539661.1_Silent_p.F225F NM_001172663.1 NP_001166134.1 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 225 SOCS box. protein transport|small GTPase mediated signal transduction plasma membrane GTP binding NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 6 Hepatocellular(780;0.0218) TCAAGTCCTTCTCGATGGCCA 0.652000 54 172 0 0 1 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169539844 169539844 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:169539844C>T ENST00000340806.6 + 1 135 c.135C>T c.(133-135)ttC>ttT p.F45F NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 45 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 TGGAGATCTTCACATTCACAG 0.398000 15 60 0 0 1 0 0 COG8 84342 broad.mit.edu 37 16 69373450 69373450 + Silent SNP C C T rs142062440 TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:69373450C>T ENST00000306875.4 - 1 120 c.6G>A c.(4-6)gcG>gcA p.A2A RP11-343C2.9_ENST00000563634.1_Intron|NIP7_ENST00000254940.5_5'UTR|RP11-343C2.7_ENST00000564737.1_Intron|COG8_ENST00000562081.1_Silent_p.A2A NM_032382.4 NP_115758.3 Q96MW5 COG8_HUMAN component of oligomeric golgi complex 8 2 protein transport Golgi membrane|Golgi transport complex breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1) 9 TCGCCGCGGTCGCCATCTTCC 0.622000 OREG0023907 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 25 0 0 1 0 0 ZNF766 90321 broad.mit.edu 37 19 52785369 52785369 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:52785369C>T ENST00000439461.1 + 2 67 c.24C>T c.(22-24)caC>caT p.H8H ZNF766_ENST00000359102.4_Silent_p.H23H|ZNF766_ENST00000593612.1_Silent_p.H23H|ZNF766_ENST00000599581.1_Silent_p.H8H|ZNF766_ENST00000600821.1_Silent_p.H3H NM_001010851.2 NP_001010851.1 Q5HY98 ZN766_HUMAN zinc finger protein 766 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 17 GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871) TTTAGGGACACTTGACATTCA 0.438000 147 163 0 0 1 0 0 PURA 5813 broad.mit.edu 37 5 139494256 139494256 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:139494256C>T ENST00000331327.3 + 1 549 c.490C>T c.(490-492)Cgc>Tgc p.R164C NM_005859.4 NP_005850.1 Q00577 PURA_HUMAN purine-rich element binding protein A 164 DNA unwinding involved in replication|DNA-dependent DNA replication initiation DNA replication factor A complex double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding central_nervous_system(1)|lung(2)|ovary(1)|prostate(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGAACCAGCGCGGCCGCTT 0.692000 11 30 0 0 1 0 0 N4BP2 55728 broad.mit.edu 37 4 40104488 40104488 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:40104488G>A ENST00000261435.6 + 4 1439 c.1023G>A c.(1021-1023)gtG>gtA p.V341V NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 341 Pro-rich. cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 GGAAGGATGTGAGTTACTGCC 0.502000 21 37 0 0 1 0 0 CNN2 1265 broad.mit.edu 37 19 1037770 1037770 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:1037770G>C ENST00000263097.4 + 7 1164 c.801G>C c.(799-801)caG>caC p.Q267H CNN2_ENST00000348419.3_Missense_Mutation_p.Q228H|CNN2_ENST00000565096.2_Missense_Mutation_p.Q256H|CNN2_ENST00000562958.2_Missense_Mutation_p.Q288H|CNN2_ENST00000606983.1_3'UTR NM_004368.2 NP_004359.1 Q99439 CNN2_HUMAN calponin 2 267 actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process cell-cell junction|stress fiber actin binding|calmodulin binding endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGGCCGGCAGATATATGACC 0.662000 41 69 0 0 1 0 0 TMEM40 55287 broad.mit.edu 37 3 12783978 12783978 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:12783978C>G ENST00000314124.7 - 5 686 c.330G>C c.(328-330)ttG>ttC p.L110F TMEM40_ENST00000435218.2_Missense_Mutation_p.L80F|TMEM40_ENST00000435575.1_Missense_Mutation_p.L34F|TMEM40_ENST00000431022.2_Missense_Mutation_p.L126F|TMEM40_ENST00000264728.8_Missense_Mutation_p.L110F NM_001284406.1|NM_018306.2 NP_001271335.1|NP_060776.2 Q8WWA1 TMM40_HUMAN transmembrane protein 40 110 integral to membrane breast(1)|large_intestine(3)|lung(5)|urinary_tract(1) 10 GCTCATCCTTCAAAACGTCAG 0.517000 74 98 0 0 1 0 0 HOXC9 3225 broad.mit.edu 37 12 54394234 54394234 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:54394234G>A ENST00000303450.4 + 1 332 c.262G>A c.(262-264)Gcc>Acc p.A88T HOXC9_ENST00000504557.1_Intron|HOXC9_ENST00000508190.1_Missense_Mutation_p.A88T|RP11-834C11.12_ENST00000513209.1_Intron NM_006897.1 NP_008828.1 P31274 HXC9_HUMAN homeobox C9 88 multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 14 CCACCTCGGCGCCGACACGCG 0.711000 33 19 0 0 1 0 0 ANKS4B 257629 broad.mit.edu 37 16 21262055 21262055 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:21262055G>T ENST00000311620.5 + 2 1241 c.1168G>T c.(1168-1170)Ggt>Tgt p.G390C NM_145865.2 NP_665872.2 Q8N8V4 ANS4B_HUMAN ankyrin repeat and sterile alpha motif domain containing 4B 390 SAM. NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2) 20 GBM - Glioblastoma multiforme(48;0.0565) AATGCAGCTGGGTCCCAGGAA 0.512000 13 199 0.0135373 0.0136416 1 1 0 PDE4DIP 9659 broad.mit.edu 37 1 144882662 144882662 + Silent SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:144882662G>C ENST00000369359.4 - 27 3806 c.3768C>G c.(3766-3768)ctC>ctG p.L1256L PDE4DIP_ENST00000530740.1_Silent_p.L1256L|PDE4DIP_ENST00000369354.3_Silent_p.L1119L|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Silent_p.L1119L|PDE4DIP_ENST00000313382.9_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1119 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GTTGTTCTTTGAGGAGGTTGA 0.453000 T PDGFRB MPD 24 186 0 0 1 0 0 MRPS25 64432 broad.mit.edu 37 3 15094945 15094945 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:15094945C>G ENST00000253686.2 - 3 411 c.271G>C c.(271-273)Gag>Cag p.E91Q MRPS25_ENST00000449354.2_Missense_Mutation_p.E91Q|MRPS25_ENST00000444840.2_Intron NM_022497.3 NP_071942.1 P82663 RT25_HUMAN mitochondrial ribosomal protein S25 91 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome large_intestine(1)|lung(1) 2 CTCTTGGTCTCCACATCCACC 0.473000 17 58 0 0 1 0 0 MFSD10 10227 broad.mit.edu 37 4 2934376 2934376 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:2934376G>A ENST00000329687.4 - 4 1016 c.482C>T c.(481-483)aCg>aTg p.T161M MFSD10_ENST00000507555.1_Missense_Mutation_p.T161M|MFSD10_ENST00000355443.4_Missense_Mutation_p.T161M|MFSD10_ENST00000514800.1_Missense_Mutation_p.T161M|MFSD10_ENST00000508221.1_Missense_Mutation_p.T161M NM_001120.4 NP_001111.3 Q14728 MFS10_HUMAN major facilitator superfamily domain containing 10 161 apoptosis integral to membrane tetracycline transporter activity breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) AACGATGGCCGTGGAGAGGCT 0.637000 4 148 0 0 1 0 0 TXN2 25828 broad.mit.edu 37 22 36876824 36876824 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:36876824G>C ENST00000216185.2 - 2 527 c.61C>G c.(61-63)Cag>Gag p.Q21E TXN2_ENST00000403313.1_Missense_Mutation_p.Q21E|TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000487725.1_Intron Q99757 THIOM_HUMAN thioredoxin 2 21 cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport mitochondrion|nucleolus electron carrier activity breast(1)|lung(1)|prostate(1) 3 CACTGACCCTGAGAGGGCTTC 0.577000 23 78 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940345 144940345 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:144940345C>T ENST00000525985.1 - 2 7148 c.7077G>A c.(7075-7077)gtG>gtA p.V2359V P58107 EPIPL_HUMAN epiplakin 1 2359 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AGGCCACGTCCACGGGCACGC 0.692000 50 873 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152737832 152737832 + Nonsense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:152737832G>A ENST00000367255.5 - 41 6341 c.5740C>T c.(5740-5742)Caa>Taa p.Q1914* SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q1914*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q1921*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q1921*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q1951* NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1914 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTAGCATTTTGAAGAGCATCA 0.458000 HNSCC(10;0.0054) 9 21 0 0 1 0 0 CAND1 55832 broad.mit.edu 37 12 67700122 67700122 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:67700122C>G ENST00000545606.1 + 10 3111 c.2674C>G c.(2674-2676)Ctg>Gtg p.L892V NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 892 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) TCCTGAATATCTGCCGTTTGT 0.418000 15 113 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89352493 89352493 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:89352493G>A ENST00000301030.4 - 8 1306 c.846C>T c.(844-846)ctC>ctT p.L282L ANKRD11_ENST00000378330.2_Silent_p.L282L NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 282 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TGCCTAACAGGAGGTTCACCA 0.587000 68 74 0 0 1 0 0 FURIN 5045 broad.mit.edu 37 15 91423349 91423349 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:91423349C>T ENST00000268171.3 + 13 1681 c.1402C>T c.(1402-1404)Cgg>Tgg p.R468W NM_002569.2 NP_002560.1 P09958 FURIN_HUMAN furin (paired basic amino acid cleaving enzyme) 468 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) GCTCGAGGTGCGGAAGACCGT 0.667000 10 40 0 0 1 0 0 H2BFWT 158983 broad.mit.edu 37 X 103267744 103267744 + Silent SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chrX:103267744G>C ENST00000217926.5 - 1 515 c.489C>G c.(487-489)ctC>ctG p.L163L NM_001002916.3 NP_001002916.3 Q7Z2G1 H2BWT_HUMAN H2B histone family, member W, testis-specific 163 nucleosome assembly nuclear membrane|nucleosome DNA binding breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 16 TGGTGTACCTGAGGACAGCCT 0.632000 34 7 0 0 1 0 0 PTPRE 5791 broad.mit.edu 37 10 129877885 129877885 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:129877885G>T ENST00000254667.3 + 20 2233 c.1954G>T c.(1954-1956)Gcc>Tcc p.A652S PTPRE_ENST00000419012.2_Missense_Mutation_p.A652S|PTPRE_ENST00000306042.5_Missense_Mutation_p.A594S NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 652 Tyrosine-protein phosphatase 2. negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity p.A652S(1)|p.A594S(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) GCGAGTAAAAGCCGAGGGACT 0.458000 3 40 0.004672 0.00471526 1 1 0 SCYL3 57147 broad.mit.edu 37 1 169847945 169847945 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:169847945G>A ENST00000367771.6 - 3 395 c.181C>T c.(181-183)Cgt>Tgt p.R61C SCYL3_ENST00000367772.4_Missense_Mutation_p.R61C|SCYL3_ENST00000367770.1_Missense_Mutation_p.R61C|SCYL3_ENST00000470238.1_5'UTR NM_020423.6 NP_065156.5 Q8IZE3 PACE1_HUMAN SCY1-like 3 (S. cerevisiae) Protein kinase. cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity p.R61C(2) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CAAGGGTGACGAAGTGTCTTC 0.408000 113 41 0 0 1 0 0 GGNBP2 79893 broad.mit.edu 37 17 34937963 34937963 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:34937963G>A ENST00000304718.4 + 9 1526 c.1210G>A c.(1210-1212)Gag>Aag p.E404K NM_024835.3 NP_079111.1 Q9H3C7 GGNB2_HUMAN gametogenetin binding protein 2 404 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 38 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) AGTAAGCCAAGAGAAGGTAAT 0.398000 22 35 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114278820 114278820 + Missense_Mutation SNP G G A rs149963885 byFrequency TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:114278820G>A ENST00000357077.4 + 38 9099 c.9046G>A c.(9046-9048)Gag>Aag p.E3016K ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E2983K|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2983 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TTCATCTTTCGAGCCTACTAT 0.398000 42 76 0 0 1 0 0 TAX1BP1 8887 broad.mit.edu 37 7 27825064 27825064 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:27825064G>C ENST00000396319.2 + 7 896 c.808G>C c.(808-810)Gaa>Caa p.E270Q TAX1BP1_ENST00000543117.1_Missense_Mutation_p.E270Q|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.E270Q|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.E270Q|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.E113Q NM_006024.6 NP_006015.4 Q86VP1 TAXB1_HUMAN Tax1 (human T-cell leukemia virus type I) binding protein 1 270 anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production cytosol identical protein binding|kinase binding|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(3;0.0823) AGAACAACTTGAATGTCAGTT 0.294000 45 62 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52477650 52477650 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:52477650G>A ENST00000216286.5 - 18 3665 c.3666C>T c.(3664-3666)gtC>gtT p.V1222V NID2_ENST00000541773.1_Silent_p.V1121V NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 1222 basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) TGTAGAAGAGGACCTTGCGCT 0.532000 32 53 0 0 1 0 0 ITGB1BP2 26548 broad.mit.edu 37 X 70521663 70521663 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chrX:70521663C>G ENST00000373829.3 + 1 80 c.7C>G c.(7-9)Cta>Gta p.L3V ITGB1BP2_ENST00000538820.1_5'UTR NM_012278.1 NP_036410.1 Q9UKP3 ITBP2_HUMAN integrin beta 1 binding protein (melusin) 2 3 muscle organ development|signal transduction SH3 domain binding breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1) 14 Renal(35;0.156) TTCCATGTCTCTACTCTGTCG 0.507000 46 1 0 0 1 0 0 FOXRED2 80020 broad.mit.edu 37 22 36900716 36900716 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:36900716C>T ENST00000397224.4 - 3 718 c.625G>A c.(625-627)Gag>Aag p.E209K FOXRED2_ENST00000397223.4_Missense_Mutation_p.E209K|FOXRED2_ENST00000216187.6_Missense_Mutation_p.E209K NM_001102371.1 NP_001095841.1 Q8IWF2 FXRD2_HUMAN FAD-dependent oxidoreductase domain containing 2 209 ER-associated protein catabolic process endoplasmic reticulum lumen flavin adenine dinucleotide binding|oxidoreductase activity|protein binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 ACAAAGTCCTCAGGGTCCACG 0.527000 63 44 0 0 1 0 0 DDX47 51202 broad.mit.edu 37 12 12980212 12980212 + Missense_Mutation SNP A A T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:12980212A>T ENST00000358007.3 + 11 1161 c.1139A>T c.(1138-1140)cAc>cTc p.H380L DDX47_ENST00000352940.4_Missense_Mutation_p.H331L NM_016355.3 NP_057439.2 Q9H0S4 DDX47_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 380 Helicase C-terminal. nucleolus ATP binding|ATP-dependent helicase activity|protein binding|RNA binding breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Prostate(47;0.0526) BRCA - Breast invasive adenocarcinoma(232;0.0354) CGCATAGAACACTTAATTGGG 0.473000 35 111 0 0 1 0 0 XPO6 23214 broad.mit.edu 37 16 28145186 28145186 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:28145186C>T ENST00000304658.5 - 11 2012 c.1512G>A c.(1510-1512)ctG>ctA p.L504L XPO6_ENST00000565698.1_Silent_p.L490L NM_015171.3 NP_055986.1 Q96QU8 XPO6_HUMAN exportin 6 504 protein export from nucleus protein binding|protein transporter activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 CGTGCGTGGGCAGGAGCTCCA 0.587000 72 48 0 0 1 0 0 C1orf229 388759 broad.mit.edu 37 1 247275334 247275334 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:247275334C>T ENST00000408893.2 - 1 385 c.193G>A c.(193-195)Gag>Aag p.E65K NM_207401.1 NP_997284.1 Q6ZS94 CA229_HUMAN chromosome 1 open reading frame 229 65 CGCGTCCTCTCGGCGGCCCGC 0.701000 4 4 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21606279 21606279 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:21606279C>T ENST00000392288.2 + 4 927 c.818C>T c.(817-819)tCt>tTt p.S273F ZNF493_ENST00000355504.4_Missense_Mutation_p.S145F|CTD-2561J22.3_ENST00000600810.1_Intron NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 145 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S273C(1)|p.S145C(1) central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 TGTGGCACATCTTTCTACCAA 0.348000 16 3 0 0 1 0 0 COX8A 1351 broad.mit.edu 37 11 63742235 63742235 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:63742235C>G ENST00000535431.1 + 1 144 c.83C>G c.(82-84)tCg>tGg p.S28W COX8A_ENST00000314133.3_Missense_Mutation_p.S28W AAGATCCATTCGTTGCCGCCG 0.687000 12 20 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74326619 74326619 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:74326619C>T ENST00000409262.3 + 8 3079 c.3079C>T c.(3079-3081)Cgg>Tgg p.R1027W NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 1027 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CTGCCGCCAGCGGCAGCTGGA 0.637000 19 15 0 0 1 0 0 RANBP9 10048 broad.mit.edu 37 6 13711709 13711709 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:13711709G>T ENST00000011619.3 - 1 87 c.29C>A c.(28-30)cCg>cAg p.P10Q NM_005493.2 NP_005484.2 Q96S59 RANB9_HUMAN RAN binding protein 9 10 Poly-Pro. axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 16 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) ctgctgctgcggcggcggcgg 0.761000 8 69 0.00448238 0.00453088 1 1 0 TRRAP 8295 broad.mit.edu 37 7 98534849 98534849 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:98534849G>A ENST00000359863.4 + 29 4391 c.4182G>A c.(4180-4182)ctG>ctA p.L1394L TRRAP_ENST00000355540.3_Silent_p.L1394L|TRRAP_ENST00000446306.3_Silent_p.L1393L NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 1394 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TCAAAGCCCTGAATTCCACCA 0.507000 49 203 0 0 1 0 0 OR6N2 81442 broad.mit.edu 37 1 158747168 158747168 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:158747168G>A ENST00000339258.1 - 1 257 c.258C>T c.(256-258)ctC>ctT p.L86L NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) TCTTCTCACTGAGAATATTAG 0.453000 9 232 0 0 1 0 0 C10orf137 26098 broad.mit.edu 37 10 127413965 127413965 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:127413965G>C ENST00000337623.3 + 5 694 c.589G>C c.(589-591)Gag>Cag p.E197Q C10orf137_ENST00000356792.4_Missense_Mutation_p.E197Q NM_015608.2 NP_056423.2 Q3B7T1 EDRF1_HUMAN chromosome 10 open reading frame 137 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) AAAGAGCAAAGAGCACTGGTA 0.348000 8 21 0 0 1 0 0 GRIK1 2897 broad.mit.edu 37 21 31066295 31066295 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr21:31066295C>T ENST00000399914.1 - 2 727 c.206G>A c.(205-207)cGa>cAa p.R69Q GRIK1_ENST00000327783.4_Missense_Mutation_p.R69Q|GRIK1_ENST00000399909.1_Missense_Mutation_p.R69Q|GRIK1_ENST00000389125.3_Missense_Mutation_p.R69Q|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000389124.2_Missense_Mutation_p.R69Q|GRIK1_ENST00000399913.1_Missense_Mutation_p.R69Q|GRIK1_ENST00000399907.1_Missense_Mutation_p.R69Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.R69Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.R69Q P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 69 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) CATCAGGGTTCGGTTTCTGTT 0.398000 26 71 0 0 1 0 0 MESDC2 23184 broad.mit.edu 37 15 81282044 81282044 + Missense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:81282044C>A ENST00000261758.4 - 1 175 c.89G>T c.(88-90)gGg>gTg p.G30V NM_015154.1 NP_055969.1 Q14696 MESD_HUMAN mesoderm development candidate 2 30 Chaperone domain (By similarity). mesoderm development|protein folding|Wnt receptor signaling pathway endoplasmic reticulum cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1) 8 CGCGCAGGACCCAGGCGGTGG 0.637000 21 44 3.5997e-14 3.82176e-14 1 1 0 CHRNA6 8973 broad.mit.edu 37 8 42611280 42611280 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:42611280C>T ENST00000276410.2 - 5 1417 c.1062G>A c.(1060-1062)ctG>ctA p.L354L CHRNA6_ENST00000534622.1_Silent_p.L339L NM_004198.3 NP_004189.1 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 (neuronal) 354 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1) 22 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) GCCACCTCATCAGCAGGACCT 0.587000 53 38 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55569091 55569091 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:55569091G>A ENST00000395445.1 - 36 5113 c.4719C>T c.(4717-4719)cgC>cgT p.R1573R PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395442.1_Silent_p.R438R|PCDH15_ENST00000395440.1_Silent_p.R507R|PCDH15_ENST00000395446.1_Silent_p.R769R|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_3'UTR NM_001142769.1 NP_001136241.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CTTCCTCAAGGCGTCTCTGCC 0.428000 HNSCC(58;0.16) 9 31 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155891202 155891202 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:155891202C>T ENST00000368319.3 - 10 1128 c.1129G>A c.(1129-1131)Gat>Aat p.D377N KIAA0907_ENST00000368320.3_Silent_p.P410P|KIAA0907_ENST00000368321.3_Silent_p.P410P Q7Z7F0 K0907_HUMAN KIAA0907 0 Pro-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) CTTGTGTTATCGGGTATTGTG 0.493000 23 100 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79437102 79437102 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:79437102G>A ENST00000264895.6 + 66 10764 c.10324G>A c.(10324-10326)Gat>Aat p.D3442N NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3437 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GTGGACCTTTGATGCTTATTA 0.557000 11 27 0 0 1 0 0 ZNF442 79973 broad.mit.edu 37 19 12474396 12474396 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:12474396G>C ENST00000242804.4 - 3 632 c.50C>G c.(49-51)tCt>tGt p.S17C ZNF442_ENST00000438182.1_Intron NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 17 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 ATTAGTCTGAGAGTCAGGAAG 0.488000 8 140 0 0 1 0 0 NRSN1 140767 broad.mit.edu 37 6 24145869 24145869 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:24145869G>A ENST00000378491.4 + 4 584 c.283G>A c.(283-285)Gaa>Aaa p.E95K NM_080723.4 NP_542454.3 Q8IZ57 NRSN1_HUMAN neurensin 1 95 nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 22 AGCATTTGGCGAAGCCGATTT 0.507000 47 208 0 0 1 0 0 LRSAM1 90678 broad.mit.edu 37 9 130265177 130265177 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:130265177G>A ENST00000323301.4 + 25 2775 c.2171G>A c.(2170-2172)tGa>tAa p.*724* LRSAM1_ENST00000373324.4_Silent_p.*697*|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000300417.6_Silent_p.*724*|LRSAM1_ENST00000373322.1_Silent_p.*724* NM_138361.5 NP_612370.3 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif containing 1 0 negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2) 16 CACAGCAGCTGAGTGCTGCCC 0.697000 8 6 0 0 1 0 0 SLC7A6 9057 broad.mit.edu 37 16 68325477 68325477 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:68325477C>T ENST00000566454.1 + 8 1204 c.935C>T c.(934-936)aCg>aTg p.T312M SLC7A6_ENST00000219343.6_Missense_Mutation_p.T312M NM_001076785.2 NP_001070253.1 Q92536 YLAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, y+L system), member 6 312 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|antiporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 16 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948) GCTGACCAGACGTTTGGCATG 0.502000 67 79 0 0 1 0 0 OR4D11 219986 broad.mit.edu 37 11 59271357 59271357 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:59271357C>T ENST00000313253.1 + 1 309 c.309C>T c.(307-309)ctC>ctT p.L103L NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 AGATATTTCTCTTCCACCTCC 0.468000 109 59 0 0 1 0 0 IQUB 154865 broad.mit.edu 37 7 123092843 123092843 + Nonsense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:123092843G>C ENST00000466202.1 - 13 2906 c.2330C>G c.(2329-2331)tCa>tGa p.S777* IQUB_ENST00000324698.6_Nonsense_Mutation_p.S777* NM_001282855.1 NP_001269784.1 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 777 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 TGTTGTGTCTGAGTGATACTT 0.398000 18 19 0 0 1 0 0 RNF40 9810 broad.mit.edu 37 16 30776275 30776275 + Silent SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:30776275C>G ENST00000324685.6 + 6 1101 c.666C>G c.(664-666)ctC>ctG p.L222L RNF40_ENST00000563683.1_Silent_p.L222L|RNF40_ENST00000402121.3_Intron|RNF40_ENST00000357890.5_Silent_p.L222L NM_001207033.1|NM_014771.3 NP_001193962.1|NP_055586 O75150 BRE1B_HUMAN ring finger protein 40, E3 ubiquitin protein ligase 222 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) GTGAGCCCCTCAGTGAGGCGG 0.602000 16 81 0 0 1 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130275534 130275534 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:130275534G>A ENST00000257359.6 - 9 3295 c.2589C>T c.(2587-2589)tcC>tcT p.S863S NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 863 TSP type-1 2. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 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;0.039)|Lung(977;0.213) AGGCCTGGCCGGAGGGGTCCC 0.672000 3 68 0 0 1 0 0 SLC16A2 6567 broad.mit.edu 37 X 73745728 73745728 + Splice_Site SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chrX:73745728G>T ENST00000276033.5 + 4 1558 c.1392G>T c.(1390-1392)caG>caT p.Q464H SLC16A2_ENST00000587091.1_Splice_Site_p.Q390H P36021 MOT8_HUMAN solute carrier family 16, member 2 (thyroid hormone transporter) 390 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 21 Pyruvic acid(DB00119) TCTACTTGCAGGTGAGTGTGA 0.522000 20 23 1.50039e-11 1.57252e-11 1 1 0 HRNR 388697 broad.mit.edu 37 1 152191810 152191810 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:152191810G>A ENST00000368801.2 - 3 2370 c.2295C>T c.(2293-2295)caC>caT p.H765H FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 765 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTTGTCGGCCGTGGCCCGAAG 0.592000 32 167 0 0 1 0 0 GAK 2580 broad.mit.edu 37 4 844837 844837 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:844837C>G ENST00000314167.4 - 26 3654 c.3544G>C c.(3544-3546)Gat>Cat p.D1182H GAK_ENST00000511163.1_Missense_Mutation_p.D1103H|GAK_ENST00000509566.1_5'UTR NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 1182 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) GACAACAGATCTTCAAAGTCG 0.478000 19 49 0 0 1 0 0 RARG 5916 broad.mit.edu 37 12 53607956 53607956 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:53607956C>G ENST00000425354.2 - 7 1187 c.700G>C c.(700-702)Gct>Cct p.A234P RARG_ENST00000543726.1_Missense_Mutation_p.A212P|RARG_ENST00000338561.5_Missense_Mutation_p.A223P|RARG_ENST00000394426.1_Missense_Mutation_p.A234P|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Missense_Mutation_p.A162P NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 234 Ligand-binding. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) CACTTGGTAGCCAGCTCACTG 0.567000 41 113 0 0 1 0 0 GNE 10020 broad.mit.edu 37 9 36246416 36246416 + Silent SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:36246416C>G ENST00000396594.3 - 3 432 c.321G>C c.(319-321)gtG>gtC p.V107V GNE_ENST00000539208.1_Silent_p.V17V|GNE_ENST00000377902.5_Silent_p.V76V|GNE_ENST00000543356.2_Silent_p.V71V|GNE_ENST00000447283.2_Silent_p.V76V|GNE_ENST00000539815.1_Silent_p.V76V NM_001128227.2 NP_001121699.1 Q9Y223 GLCNE_HUMAN glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 76 cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 STAD - Stomach adenocarcinoma(86;0.228) CTTCTCCCCTCACAATTGTGT 0.438000 24 173 0 0 1 0 0 GALNT1 2589 broad.mit.edu 37 18 33243615 33243615 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr18:33243615C>T ENST00000269195.5 + 2 266 c.163C>T c.(163-165)Cat>Tat p.H55Y GALNT1_ENST00000537549.1_5'UTR|GALNT1_ENST00000591081.1_Missense_Mutation_p.H55Y NM_020474.3 NP_065207.2 Q10472 GALT1_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) 55 protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1) 21 ACAAAAGCCTCATGAAGGTCC 0.328000 12 13 0 0 1 0 0 CHRD 8646 broad.mit.edu 37 3 184099750 184099750 + Nonsense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:184099750C>G ENST00000204604.1 + 6 887 c.641C>G c.(640-642)tCa>tGa p.S214* CHRD_ENST00000348986.3_Nonsense_Mutation_p.S214*|CHRD_ENST00000482805.1_3'UTR|CHRD_ENST00000450923.1_Nonsense_Mutation_p.S214*|EIF2B5_ENST00000444495.1_Intron NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 214 CHRD 1. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ATCCGCTTCTCAGACTCCAAT 0.607000 22 50 0 0 1 0 0 GPR101 83550 broad.mit.edu 37 X 136112978 136112978 + Missense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chrX:136112978C>A ENST00000298110.1 - 1 855 c.856G>T c.(856-858)Gcc>Tcc p.A286S NM_054021.1 NP_473362.1 Q96P66 GP101_HUMAN G protein-coupled receptor 101 286 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) CCTTCCTTGGCCTTCAGGCTG 0.612000 89 77 7.28744e-38 7.98322e-38 1 1 0 C1orf86 199990 broad.mit.edu 37 1 2125221 2125221 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:2125221C>T ENST00000378545.3 - 4 635 c.636G>A c.(634-636)ggG>ggA p.G212G C1orf86_ENST00000378546.4_Silent_p.G109G|C1orf86_ENST00000400919.3_5'UTR|C1orf86_ENST00000487186.1_5'UTR NM_001282670.1 NP_001269599.1 Q6NZ36 CA086_HUMAN chromosome 1 open reading frame 86 109 central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) ATTCCAGGTGCCCTCCTGCCC 0.701000 16 28 0 0 1 0 0 CDH5 1003 broad.mit.edu 37 16 66431938 66431938 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:66431938G>A ENST00000341529.3 + 9 1562 c.1414G>A c.(1414-1416)Gag>Aag p.E472K CDH5_ENST00000539168.1_5'UTR NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 472 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) AGTTTTGGATGAGAATGACAA 0.542000 72 96 0 0 1 0 0 CNTN3 5067 broad.mit.edu 37 3 74344388 74344388 + Splice_Site SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:74344388C>G ENST00000263665.6 - 18 2429 c.e18-1 NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) ACTGTAGGCTCTGTTCGGAAA 0.353000 37 23 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70034888 70034888 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:70034888G>A ENST00000370598.1 + 21 3760 c.2939G>A c.(2938-2940)aGa>aAa p.R980K BAI3_ENST00000238918.8_Missense_Mutation_p.R186K NM_001704.2 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 980 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) CGGCTTATAAGAAAACGCTTT 0.398000 17 50 0 0 1 0 0 H2AFV 94239 broad.mit.edu 37 7 44880509 44880509 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:44880509G>A ENST00000222690.6 - 3 289 c.184C>T c.(184-186)Ctc>Ttc p.L62F H2AFV_ENST00000308153.4_Missense_Mutation_p.L62F|H2AFV_ENST00000521529.1_Missense_Mutation_p.L36F|H2AFV_ENST00000349299.3_Intron|H2AFV_ENST00000350771.3_Missense_Mutation_p.L36F|H2AFV_ENST00000437072.1_Intron|H2AFV_ENST00000381124.5_Missense_Mutation_p.L62F|H2AFV_ENST00000446531.1_Missense_Mutation_p.L62F NM_138635.3 NP_619541.1 Q71UI9 H2AV_HUMAN H2A histone family, member V 62 nucleosome assembly nucleosome|nucleus DNA binding endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1) 9 TCTGCAGTGAGGTACTCCAGA 0.502000 86 40 0 0 1 0 0 ODF1 4956 broad.mit.edu 37 8 103572771 103572771 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:103572771C>G ENST00000285402.3 + 2 568 c.412C>G c.(412-414)Caa>Gaa p.Q138E ODF1_ENST00000518835.1_5'UTR NM_024410.3 NP_077721.2 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 138 cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) TGAACCCGATCAAGTCAAAGT 0.448000 130 55 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64680977 64680977 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:64680977G>C ENST00000357395.3 + 107 19421 c.8277G>C c.(8275-8277)caG>caC p.Q2759H SYNE2_ENST00000555022.1_Missense_Mutation_p.Q252H|SYNE2_ENST00000554584.1_Missense_Mutation_p.Q6316H|SYNE2_ENST00000555002.1_Missense_Mutation_p.Q3008H|SYNE2_ENST00000344113.4_Missense_Mutation_p.Q6374H|SYNE2_ENST00000554805.1_Missense_Mutation_p.Q157H|SYNE2_ENST00000458046.2_Missense_Mutation_p.Q8H|SYNE2_ENST00000394768.2_Missense_Mutation_p.Q2759H|SYNE2_ENST00000358025.3_Missense_Mutation_p.Q6374H|ESR2_ENST00000542956.1_Intron Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6374 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GAGAAATCCAGACTGATTCTT 0.512000 43 56 0 0 1 0 0 ENO2 2026 broad.mit.edu 37 12 7031509 7031509 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:7031509C>G ENST00000535366.1 + 10 1805 c.1179C>G c.(1177-1179)atC>atG p.I393M ENO2_ENST00000544774.1_Missense_Mutation_p.I350M|ENO2_ENST00000534977.1_3'UTR|ENO2_ENST00000545045.2_Missense_Mutation_p.I274M|ENO2_ENST00000538763.1_Missense_Mutation_p.I350M|ENO2_ENST00000541477.1_Missense_Mutation_p.I393M|ENO2_ENST00000229277.1_Missense_Mutation_p.I393M P09104 ENOG_HUMAN enolase 2 (gamma, neuronal) 393 gluconeogenesis|glycolysis phosphopyruvate hydratase complex|plasma membrane magnesium ion binding|phosphopyruvate hydratase activity p.I393M(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 TGTTTCAGATCAAGACTGGTG 0.547000 38 62 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578275 7578275 + Nonsense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:7578275G>A ENST00000420246.2 - 6 706 c.574C>T c.(574-576)Cag>Tag p.Q192* TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 192 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATAAGATGCTGAGGAGGGGCC 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 87 8 0 0 1 0 0 EIF2AK2 5610 broad.mit.edu 37 2 37366873 37366873 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:37366873C>T ENST00000233057.4 - 6 739 c.417G>A c.(415-417)caG>caA p.Q139Q EIF2AK2_ENST00000395127.2_Silent_p.Q139Q|EIF2AK2_ENST00000405334.1_Silent_p.Q139Q NM_001135651.2 NP_001129123.1 P19525 E2AK2_HUMAN eukaryotic translation initiation factor 2-alpha kinase 2 139 DRBM 2. evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle cytosol ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1) 22 all_hematologic(82;0.248) TATATTCTTTCTGTCCCATTT 0.323000 8 41 0 0 1 0 0 UQCC1 55245 broad.mit.edu 37 20 33891825 33891825 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:33891825C>T ENST00000374385.5 - 10 990 c.813G>A c.(811-813)ggG>ggA p.G271G UQCC1_ENST00000407996.2_Silent_p.G134G|UQCC1_ENST00000349714.5_Silent_p.G244G|UQCC1_ENST00000374384.2_Silent_p.G245G|UQCC1_ENST00000374377.5_Silent_p.G159G|UQCC1_ENST00000540457.1_Silent_p.G116G|UQCC1_ENST00000397556.3_Silent_p.G172G|UQCC1_ENST00000359226.2_Silent_p.G191G|UQCC1_ENST00000374380.2_Silent_p.G203G NM_018244.4 NP_060714.3 ubiquinol-cytochrome c reductase complex assembly factor 1 271 AGCTCACCTCCCCTGTCAGAA 0.592000 OREG0025888 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 71 53 0 0 1 0 0 TULP2 7288 broad.mit.edu 37 19 49392787 49392787 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:49392787C>T ENST00000221399.3 - 7 760 c.616G>A c.(616-618)Gaa>Aaa p.E206K NM_003323.2 NP_003314.2 O00295 TULP2_HUMAN tubby like protein 2 206 visual perception cytoplasm|extracellular region NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 22 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) GCCAAGTTTTCATATACACAG 0.502000 65 135 0 0 1 0 0 LMX1B 4010 broad.mit.edu 37 9 129453164 129453164 + Nonsense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:129453164G>T ENST00000355497.5 + 3 383 c.376G>T c.(376-378)Gag>Tag p.E126* LMX1B_ENST00000425646.2_Nonsense_Mutation_p.E103*|LMX1B_ENST00000373474.4_Nonsense_Mutation_p.E126*|LMX1B_ENST00000526117.1_Nonsense_Mutation_p.E126*|LMX1B_ENST00000561065.1_Nonsense_Mutation_p.E103* NM_001174146.1 NP_001167617.1 O60663 LMX1B_HUMAN LIM homeobox transcription factor 1, beta 103 LIM zinc-binding 2. dorsal/ventral pattern formation|in utero embryonic development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 15 CGCCCCCACCGAGTTCGTGAT 0.637000 Nail-Patella Syndrome 16 31 7.87624e-14 8.34856e-14 1 1 0 RICTOR 253260 broad.mit.edu 37 5 38947495 38947495 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:38947495C>T ENST00000357387.3 - 32 4215 c.4185G>A c.(4183-4185)ttG>ttA p.L1395L RICTOR_ENST00000296782.5_Silent_p.L1419L NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 1395 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding p.L1395L(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) TAATAGGACTCAATAAATCTT 0.373000 34 30 0 0 1 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17172072 17172072 + Nonsense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:17172072G>A ENST00000265970.7 - 3 1299 c.1300C>T c.(1300-1302)Cag>Tag p.Q434* PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Nonsense_Mutation_p.Q54* NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 434 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) ACTGGTAGCTGAAATCCTTCA 0.403000 25 102 0 0 1 0 0 ATG9B 285973 broad.mit.edu 37 7 150714331 150714331 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:150714331G>A ENST00000605938.1 - 9 2156 c.2081C>T c.(2080-2082)tCg>tTg p.S694L ATG9B_ENST00000377974.2_Missense_Mutation_p.S694L|ATG9B_ENST00000444312.1_Missense_Mutation_p.S180L|ATG9B_ENST00000494791.1_5'UTR NM_173681.5 NP_775952.4 Q674R7 ATG9B_HUMAN autophagy related 9B 694 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTGAGACAGCGAGGCCTCAGT 0.582000 24 35 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547196 132547196 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:132547196G>A ENST00000333577.4 + 48 8501 c.8392G>A c.(8392-8394)Ggc>Agc p.G2798S EP400_ENST00000389562.2_Missense_Mutation_p.G2761S|EP400_ENST00000330386.6_Missense_Mutation_p.G2681S|EP400_ENST00000389561.2_Missense_Mutation_p.G2762S|EP400_ENST00000332482.4_Missense_Mutation_p.G2725S Q96L91 EP400_HUMAN E1A binding protein p400 2798 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) ACAGATCCAGGGCCAGGCCCA 0.612000 51 48 0 0 1 0 0 ARID4B 51742 broad.mit.edu 37 1 235383127 235383127 + Nonsense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:235383127C>A ENST00000264183.3 - 16 2061 c.1564G>T c.(1564-1566)Gaa>Taa p.E522* ARID4B_ENST00000349213.3_Nonsense_Mutation_p.E522*|ARID4B_ENST00000366603.2_Nonsense_Mutation_p.E522* NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) 522 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) GCTTTTTCTTCCTCAGCTTCT 0.338000 17 58 3.5997e-14 3.82176e-14 1 1 0 FOXE1 2304 broad.mit.edu 37 9 100616407 100616407 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:100616407G>A ENST00000375123.3 + 1 872 c.211G>A c.(211-213)Gag>Aag p.E71K NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 71 cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) GCACGCGCCCGAGCGCCGCCT 0.697000 12 14 0 0 1 0 0 TXNDC5 81567 broad.mit.edu 37 6 7891866 7891866 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:7891866G>A ENST00000539054.1 - 5 503 c.504C>T c.(502-504)gtC>gtT p.V168V TXNDC5_ENST00000473453.1_Silent_p.V132V|TXNDC5_ENST00000379757.4_Silent_p.V240V|BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR Q8NBS9 TXND5_HUMAN thioredoxin domain containing 5 (endoplasmic reticulum) Thioredoxin 1. anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport endoplasmic reticulum lumen|lysosomal lumen electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2) 22 Ovarian(93;0.0398) TGCCAATCTTGACAGTTTCGG 0.493000 35 128 0 0 1 0 0 TEK 7010 broad.mit.edu 37 9 27203074 27203074 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:27203074C>G ENST00000380036.4 + 13 2608 c.2166C>G c.(2164-2166)aaC>aaG p.N722K TEK_ENST00000406359.4_Missense_Mutation_p.N679K|TEK_ENST00000519097.1_Missense_Mutation_p.N575K NM_000459.3 NP_000450 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 722 Fibronectin type-III 3. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) GGTCAAGCAACCCAGCCTTTT 0.473000 10 79 0 0 1 0 0 GALNT2 2590 broad.mit.edu 37 1 230415081 230415081 + Silent SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:230415081G>C ENST00000366672.4 + 16 1665 c.1593G>C c.(1591-1593)ctG>ctC p.L531L GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000543760.1_Silent_p.L493L NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) 531 Ricin B-type lectin. immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.L531L(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) ACTCCAAGCTGAGGCACGTGG 0.582000 18 60 0 0 1 0 0 AP1B1 162 broad.mit.edu 37 22 29738343 29738343 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:29738343C>T ENST00000357586.2 - 12 1653 c.1467G>A c.(1465-1467)gtG>gtA p.V489V AP1B1_ENST00000317368.7_Silent_p.V489V|AP1B1_ENST00000415447.1_Silent_p.V489V|AP1B1_ENST00000405198.1_Silent_p.V489V|AP1B1_ENST00000402502.1_Silent_p.V489V|AP1B1_ENST00000432560.2_Silent_p.V489V|AP1B1_ENST00000356015.2_Silent_p.V489V NM_001127.3 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1, beta 1 subunit 489 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GAAAGAGTTTCACAATGGCTG 0.582000 61 19 0 0 1 0 0 UCHL5 51377 broad.mit.edu 37 1 193028361 193028361 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:193028361G>A ENST00000367455.4 - 1 265 c.30C>T c.(28-30)ctC>ctT p.L10L UCHL5_ENST00000530098.2_5'UTR|UCHL5_ENST00000367454.1_Silent_p.L10L|UCHL5_ENST00000367451.4_Silent_p.L10L|UCHL5_ENST00000367452.4_Intron|UCHL5_ENST00000367448.1_Silent_p.L10L|UCHL5_ENST00000367449.1_Silent_p.L10L NM_001199261.1|NM_015984.3 NP_001186190.1|NP_057068.1 Q9Y5K5 UCHL5_HUMAN ubiquitin carboxyl-terminal hydrolase L5 DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytosol|Ino80 complex|proteasome complex endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1) 19 CGCTTTCCATGAGGCACCACT 0.677000 13 41 0 0 1 0 0 TMEM105 284186 broad.mit.edu 37 17 79287597 79287597 + Nonsense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:79287597G>A ENST00000332900.1 - 3 793 c.244C>T c.(244-246)Cga>Tga p.R82* NM_178520.3 NP_848615.1 Q8N8V8 TM105_HUMAN transmembrane protein 105 82 integral to membrane NS(1)|large_intestine(3)|lung(1)|ovary(2) 7 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892) TCATGTCTTCGCCTTCTTATC 0.662000 133 116 0 0 1 0 0 WAC 51322 broad.mit.edu 37 10 28897142 28897142 + Nonsense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:28897142C>G ENST00000375664.4 + 8 1421 c.812C>G c.(811-813)tCa>tGa p.S271* WAC_ENST00000375646.1_Nonsense_Mutation_p.S168*|WAC_ENST00000354911.4_Nonsense_Mutation_p.S316*|WAC_ENST00000347934.4_Nonsense_Mutation_p.S213*|WAC_ENST00000428935.1_Nonsense_Mutation_p.S271* Q9BTA9 WAC_HUMAN WW domain containing adaptor with coiled-coil cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1) 32 AAACCCGTATCACATTCTTGC 0.433000 66 107 0 0 1 0 0 C9orf142 286257 broad.mit.edu 37 9 139887394 139887394 + Silent SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:139887394G>C ENST00000371620.3 + 3 224 c.198G>C c.(196-198)ctG>ctC p.L66L C9orf142_ENST00000493968.1_3'UTR NM_183241.1 NP_899064.1 Q9BUH6 CI142_HUMAN chromosome 9 open reading frame 142 66 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GTTTTGGCCTGAGTGCGGCTG 0.662000 30 130 0 0 1 0 0 IQCB1 9657 broad.mit.edu 37 3 121509013 121509013 + Nonsense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:121509013C>A ENST00000310864.6 - 11 1250 c.1036G>T c.(1036-1038)Gag>Tag p.E346* IQCB1_ENST00000349820.6_Nonsense_Mutation_p.E213* NM_001023570.2 NP_001018864.2 Q15051 IQCB1_HUMAN IQ motif containing B1 346 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) TTGAGGTCCTCTTCTTCCTTC 0.383000 34 104 6.02501e-08 6.21508e-08 1 1 0 ZFP37 7539 broad.mit.edu 37 9 115805645 115805645 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:115805645G>A ENST00000374227.3 - 4 1280 c.1253C>T c.(1252-1254)tCa>tTa p.S418L ZFP37_ENST00000555206.1_Missense_Mutation_p.S419L|ZFP37_ENST00000553380.1_Missense_Mutation_p.S433L NM_001282515.1|NM_001282518.1 NP_001269444.1|NP_001269447.1 Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 418 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S418L(1) NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 GGTAAGAGATGAGTTATACCT 0.388000 49 36 0 0 1 0 0 LAPTM4A 9741 broad.mit.edu 37 2 20251207 20251207 + Silent SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:20251207G>C ENST00000175091.4 - 1 582 c.75C>G c.(73-75)gtC>gtG p.V25V NM_014713.4 NP_055528.1 Q15012 LAP4A_HUMAN lysosomal protein transmembrane 4 alpha 25 transport endomembrane system|Golgi apparatus|integral to membrane endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCCGGTGCGGACATGGCAAC 0.667000 17 16 0 0 1 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142435652 142435652 + Splice_Site SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:142435652G>T ENST00000378004.3 + 16 1787 c.e16+1 ARHGAP26_ENST00000274498.4_Splice_Site NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAAGCAGCAAGTAAGTCTTTT 0.353000 33 55 2.05212e-20 2.22568e-20 1 1 0 AHNAK 79026 broad.mit.edu 37 11 62295310 62295310 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:62295310C>G ENST00000378024.4 - 5 6853 c.6579G>C c.(6577-6579)ttG>ttC p.L2193F AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2193 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TGGGGCCTTTCAAGTTTAAGT 0.473000 106 352 0 0 1 0 0 DENND2C 163259 broad.mit.edu 37 1 115147649 115147649 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:115147649C>T ENST00000393274.1 - 11 2186 c.1561G>A c.(1561-1563)Gat>Aat p.D521N DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.D464N|DENND2C_ENST00000393277.1_Missense_Mutation_p.D521N NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 521 UDENN. NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TAGCCATGATCATCCTGAAAA 0.363000 6 8 0 0 1 0 0 PILRA 29992 broad.mit.edu 37 7 99995535 99995535 + Splice_Site SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:99995535G>T ENST00000198536.2 + 4 919 c.707G>T c.(706-708)aGg>aTg p.R236M PILRA_ENST00000350573.2_Splice_Site_p.R163M|PILRA_ENST00000453419.1_Splice_Site_p.R163M|PILRA_ENST00000394000.2_Intron NM_013439.2 NP_038467.2 Q9UKJ1 PILRA_HUMAN paired immunoglobin-like type 2 receptor alpha 236 interspecies interaction between organisms extracellular region|integral to membrane|plasma membrane protein binding|receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 15 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ACCCCAGCCAGGTGAGTGCTG 0.612000 32 126 4.65686e-17 5.00919e-17 1 1 0 TMEM71 137835 broad.mit.edu 37 8 133771110 133771110 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:133771110G>C ENST00000356838.3 - 2 158 c.16C>G c.(16-18)Caa>Gaa p.Q6E TMEM71_ENST00000377901.4_Missense_Mutation_p.Q6E|TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000523829.1_Missense_Mutation_p.Q6E NM_144649.2 NP_653250.2 Q6P5X7 TMM71_HUMAN transmembrane protein 71 6 integral to membrane p.Q6E(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) GACATCAGTTGAGATATTCGG 0.348000 50 254 0 0 1 0 0 ATP13A2 23400 broad.mit.edu 37 1 17323611 17323611 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:17323611C>T ENST00000452699.1 - 12 1273 c.1084G>A c.(1084-1086)Gag>Aag p.E362K ATP13A2_ENST00000326735.8_Missense_Mutation_p.E367K|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000502860.1_5'UTR|ATP13A2_ENST00000341676.5_Missense_Mutation_p.E362K NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 367 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) CGGTGTGTCTCTGCACAGTAG 0.652000 130 68 0 0 1 0 0 GNE 10020 broad.mit.edu 37 9 36246323 36246323 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:36246323C>G ENST00000396594.3 - 3 525 c.414G>C c.(412-414)atG>atC p.M138I GNE_ENST00000539208.1_Missense_Mutation_p.M48I|GNE_ENST00000377902.5_Missense_Mutation_p.M107I|GNE_ENST00000543356.2_Missense_Mutation_p.M102I|GNE_ENST00000447283.2_Missense_Mutation_p.M107I|GNE_ENST00000539815.1_Missense_Mutation_p.M107I NM_001128227.2 NP_001121699.1 Q9Y223 GLCNE_HUMAN glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 107 cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 STAD - Stomach adenocarcinoma(86;0.228) CATGAACAATCATGATATCAG 0.522000 18 108 0 0 1 0 0 TMEM38B 55151 broad.mit.edu 37 9 108536171 108536171 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:108536171C>T ENST00000374688.1 + 6 1234 c.524C>T c.(523-525)tCt>tTt p.S175F TMEM38B_ENST00000374692.3_Missense_Mutation_p.S229F Q9NVV0 TM38B_HUMAN transmembrane protein 38B 229 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 ACACAGACTTCTACTATGACA 0.358000 23 73 0 0 1 0 0 FAM20A 54757 broad.mit.edu 37 17 66535515 66535515 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:66535515C>T ENST00000592554.1 - 10 2046 c.1324G>A c.(1324-1326)Gaa>Aaa p.E442K PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR NM_001243746.1|NM_017565.3 NP_001230675.1|NP_060035.2 Q96MK3 FA20A_HUMAN family with sequence similarity 20, member A 442 extracellular region cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1) 9 Breast(10;1.64e-13) ATGGAGATTTCATCATGGGAG 0.527000 36 159 0 0 1 0 0 PLOD1 5351 broad.mit.edu 37 1 12020784 12020784 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:12020784G>A ENST00000196061.4 + 10 1084 c.1057G>A c.(1057-1059)Gag>Aag p.E353K PLOD1_ENST00000376369.3_Missense_Mutation_p.E400K NM_000302.3 NP_000293.2 Q02809 PLOD1_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 353 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) GGTGGGCCCTGAGGTGCGGAT 0.627000 58 39 0 0 1 0 0 PARD6B 84612 broad.mit.edu 37 20 49354553 49354553 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:49354553G>A ENST00000371610.2 + 2 469 c.226G>A c.(226-228)Gat>Aat p.D76N PARD6B_ENST00000396039.1_Missense_Mutation_p.D76N NM_032521.2 NP_115910.1 Q9BYG5 PAR6B_HUMAN par-6 family cell polarity regulator beta 76 OPR. axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly cytosol|tight junction protein binding NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1) 11 AAATAATGATGATAATTATCA 0.338000 41 22 0 0 1 0 0 C17orf74 201243 broad.mit.edu 37 17 7330189 7330189 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:7330189C>T ENST00000333870.3 + 3 953 c.879C>T c.(877-879)gtC>gtT p.V293V C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA NM_175734.4 NP_783861.3 Q0P670 CQ074_HUMAN chromosome 17 open reading frame 74 293 integral to membrane cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 22 Prostate(122;0.157) CCTCTTGGGTCCCCGTGGGGC 0.677000 18 102 0 0 1 0 0 DSE 29940 broad.mit.edu 37 6 116757927 116757927 + Missense_Mutation SNP A A C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:116757927A>C ENST00000331677.3 + 7 2740 c.2296A>C c.(2296-2298)Aac>Cac p.N766H DSE_ENST00000359564.2_Missense_Mutation_p.N766H|DSE_ENST00000537543.1_Missense_Mutation_p.N785H|DSE_ENST00000452085.3_Missense_Mutation_p.N766H Q9UL01 DSE_HUMAN dermatan sulfate epimerase 766 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) CCGAGTCCGGAACACAGCTAG 0.478000 24 43 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57768706 57768706 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:57768706G>A ENST00000371030.2 + 1 2632 c.2632G>A c.(2632-2634)Gag>Aag p.E878K NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 878 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GCAGGTGGGCGAGCCTCTGGA 0.657000 14 86 0 0 1 0 0 RTN4R 65078 broad.mit.edu 37 22 20230351 20230351 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:20230351G>C ENST00000043402.7 - 2 743 c.305C>G c.(304-306)aCt>aGt p.T102S RTN4R_ENST00000469601.1_5'UTR NM_023004.5 NP_075380.1 Q9BZR6 RTN4R_HUMAN reticulon 4 receptor 102 axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane protein binding|receptor activity lung(1)|ovary(1)|prostate(1) 3 Colorectal(54;0.0993) GGCCAGGCCAGTGAAGGCAGC 0.637000 48 25 0 0 1 0 0 USP21 27005 broad.mit.edu 37 1 161130796 161130796 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:161130796G>A ENST00000368002.3 + 3 743 c.366G>A c.(364-366)atG>atA p.M122I USP21_ENST00000368001.1_Missense_Mutation_p.M122I|USP21_ENST00000289865.8_Missense_Mutation_p.M122I NM_001014443.2 NP_001014443.1 Q9UK80 UBP21_HUMAN ubiquitin specific peptidase 21 122 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3) 29 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) TGCGTCCAATGGGGATTGCCT 0.632000 24 209 0 0 1 0 0 C1orf65 164127 broad.mit.edu 37 1 223566977 223566977 + Missense_Mutation SNP G G A rs143800669 TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:223566977G>A ENST00000366875.3 + 1 263 c.160G>A c.(160-162)Gaa>Aaa p.E54K NM_152610.2 NP_689823.2 Q8N715 CA065_HUMAN chromosome 1 open reading frame 65 54 p.E54K(1) breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) TGCGGAGAGCGAAGCTGGGGC 0.736000 45 15 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78381538 78381538 + Missense_Mutation SNP T T C rs76161186 TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:78381538T>C ENST00000278550.7 - 32 6314 c.5852A>G c.(5851-5853)gAc>gGc p.D1951G NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 AGAGAGGCGGTCATTCTTGTC 0.547000 6 122 0 0 1 0 0 MFF 56947 broad.mit.edu 37 2 228205033 228205033 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:228205033G>C ENST00000353339.3 + 6 896 c.455G>C c.(454-456)aGa>aCa p.R152T MFF_ENST00000524634.1_5'UTR|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000409565.1_Missense_Mutation_p.R126T|MFF_ENST00000392059.1_Missense_Mutation_p.R152T|MFF_ENST00000304593.9_Missense_Mutation_p.R126T|MFF_ENST00000354503.6_Missense_Mutation_p.R126T|MFF_ENST00000349901.7_Missense_Mutation_p.R126T|MFF_ENST00000337110.7_Missense_Mutation_p.R126T|MFF_ENST00000409616.1_Missense_Mutation_p.R126T NM_001277061.1 NP_001263990.1 Q9GZY8 MFF_HUMAN mitochondrial fission factor 152 integral to membrane|mitochondrial outer membrane breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2) 21 AGACTAAAAAGAGAGCGGTCT 0.413000 28 18 0 0 1 0 0 HKDC1 80201 broad.mit.edu 37 10 70992797 70992797 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:70992797G>T ENST00000354624.5 + 4 536 c.403G>T c.(403-405)Gca>Tca p.A135S HKDC1_ENST00000395086.2_Missense_Mutation_p.A135S NM_025130.3 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 135 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 TGACTGTCTGGCAGATTTCAT 0.468000 14 48 7.93312e-07 8.15764e-07 1 1 0 CSK 1445 broad.mit.edu 37 15 75092810 75092810 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:75092810G>C ENST00000220003.9 + 6 1249 c.520G>C c.(520-522)Gag>Cag p.E174Q CSK_ENST00000439220.2_Missense_Mutation_p.E174Q|CSK_ENST00000567571.1_Missense_Mutation_p.E174Q|CSK_ENST00000309470.9_Missense_Mutation_p.E174Q NM_004383.2 NP_004374.1 P41240 CSK_HUMAN c-src tyrosine kinase 174 blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway centrosome|cytosol|Golgi apparatus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding central_nervous_system(1)|lung(2) 3 AAAGGTCATGGAGGGCACAGT 0.622000 OREG0023291 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 35 0 0 1 0 0 COPA 1314 broad.mit.edu 37 1 160267134 160267134 + Splice_Site SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:160267134C>G ENST00000241704.7 - 21 2491 c.2262G>C c.(2260-2262)caG>caC p.Q754H COPA_ENST00000368069.3_Splice_Site_p.Q763H NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 754 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GATACTTACTCTGTCCACAGT 0.453000 39 338 0 0 1 0 0 TACO1 51204 broad.mit.edu 37 17 61678640 61678640 + Silent SNP C C T rs141350830 TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:61678640C>T ENST00000258975.6 + 1 410 c.198C>T c.(196-198)gtC>gtT p.V66V NM_016360.3 NP_057444.2 Q9BSH4 TACO1_HUMAN translational activator of mitochondrially encoded cytochrome c oxidase I 66 regulation of translation mitochondrion breast(2)|endometrium(1)|lung(1) 4 GGTCCAAAGTCAGGCACATCA 0.637000 25 36 0 0 1 0 0 CCT3 7203 broad.mit.edu 37 1 156279057 156279057 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:156279057G>A ENST00000295688.3 - 14 1851 c.1571C>T c.(1570-1572)tCa>tTa p.S524L CCT3_ENST00000368261.3_Missense_Mutation_p.S479L|CCT3_ENST00000368259.2_Missense_Mutation_p.S486L|CCT3_ENST00000472765.2_Missense_Mutation_p.S479L NM_005998.4 NP_005989.3 P49368 TCPG_HUMAN chaperonin containing TCP1, subunit 3 (gamma) 524 'de novo' posttranslational protein folding cytoskeleton|cytosol|plasma membrane ATP binding|unfolded protein binding endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) TTTGTGGCCTGAAACGATGTC 0.512000 37 183 0 0 1 0 0 FBXL22 283807 broad.mit.edu 37 15 63893794 63893794 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:63893794G>A ENST00000360587.2 + 2 693 c.653G>A c.(652-654)aGa>aAa p.R218K FBXL22_ENST00000539570.3_Missense_Mutation_p.R212K NM_203373.2 NP_976307.2 Q6P050 FXL22_HUMAN F-box and leucine-rich repeat protein 22 212 lung(4) 4 CGCACGGGCAGAAGGAGCCAC 0.716000 8 3 0 0 1 0 0 PCDHB18P 54660 broad.mit.edu 37 5 140616175 140616175 + RNA SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:140616175C>A ENST00000526308.1 + 0 2238 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 AGGCCCAGGCCGACTCCCTCA 0.687000 11 138 2.68362e-12 2.83079e-12 1 1 0 SEMA3E 9723 broad.mit.edu 37 7 82997265 82997265 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:82997265C>T ENST00000307792.3 - 17 2432 c.1965G>A c.(1963-1965)caG>caA p.Q655Q SEMA3E_ENST00000427262.1_Silent_p.Q595Q NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 655 Ig-like C2-type. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) GCTCTACTGTCTGGCAAAAAT 0.443000 38 62 0 0 1 0 0 ICOS 29851 broad.mit.edu 37 2 204820544 204820544 + Missense_Mutation SNP T T C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:204820544T>C ENST00000316386.6 + 2 311 c.244T>C c.(244-246)Ttc>Ctc p.F82L ICOS_ENST00000435193.1_Missense_Mutation_p.F82L NM_012092.3 NP_036224.1 Q9Y6W8 ICOS_HUMAN inducible T-cell co-stimulator 82 Ig-like V-type. immune response|T cell costimulation extracellular region breast(1)|large_intestine(1)|lung(4) 6 GAGTCTGAAATTCTGCCATTC 0.388000 28 61 0 0 1 0 0 ZNF281 23528 broad.mit.edu 37 1 200376276 200376276 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:200376276G>C ENST00000294740.3 - 2 2682 c.2558C>G c.(2557-2559)tCt>tGt p.S853C ZNF281_ENST00000367352.3_Missense_Mutation_p.S817C|ZNF281_ENST00000367353.1_Missense_Mutation_p.S853C NM_001281293.1|NM_001281294.1|NM_012482.4 NP_001268222.1|NP_001268223.1|NP_036614.1 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 27 TTCTCCATTAGAGTTAGTGAT 0.418000 24 48 0 0 1 0 0 BCAT1 586 broad.mit.edu 37 12 25031487 25031487 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:25031487G>A ENST00000261192.7 - 5 1013 c.487C>T c.(487-489)Cgt>Tgt p.R163C BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000538118.1_Missense_Mutation_p.R162C|BCAT1_ENST00000539780.1_Missense_Mutation_p.R126C|BCAT1_ENST00000539282.1_Missense_Mutation_p.R175C|BCAT1_ENST00000342945.5_Missense_Mutation_p.R102C NM_001178091.1|NM_005504.6 NP_001171562.1|NP_005495.2 P54687 BCAT1_HUMAN branched chain amino-acid transaminase 1, cytosolic 163 branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle cytosol L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity breast(1)|large_intestine(1)|lung(3)|prostate(2) 7 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196) Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114) AATGTAGGACGAATATACAGA 0.373000 23 26 0 0 1 0 0 OR10X1 128367 broad.mit.edu 37 1 158549345 158549345 + Missense_Mutation SNP T T A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:158549345T>A ENST00000368150.1 - 1 344 c.345A>T c.(343-345)ttA>ttT p.L115F NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) AGCACATCTGTAAGCTACAAC 0.478000 23 129 0 0 1 0 0 KIAA1147 57189 broad.mit.edu 37 7 141364706 141364706 + Missense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:141364706C>A ENST00000536163.1 - 7 1100 c.1101G>T c.(1099-1101)caG>caT p.Q367H KIAA1147_ENST00000482493.1_Missense_Mutation_p.Q263H NM_001080392.1 NP_001073861.1 A4D1U4 LCHN_HUMAN KIAA1147 367 breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1) 12 Melanoma(164;0.0171) GCCACTACCTCTGCTCGTTGA 0.597000 11 19 9.16793e-09 9.5021e-09 1 1 0 ROCK1 6093 broad.mit.edu 37 18 18625257 18625257 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr18:18625257G>A ENST00000399799.2 - 5 1526 c.586C>T c.(586-588)Cac>Tac p.H196Y NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 Protein kinase. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) CTTTACCTGTGAATAAAACCC 0.343000 6 31 0 0 1 0 0 FEZF1 389549 broad.mit.edu 37 7 121942239 121942239 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:121942239C>T ENST00000442488.2 - 4 1307 c.1240G>A c.(1240-1242)Gac>Aac p.D414N FEZF1_ENST00000331178.4_Missense_Mutation_p.D410N|FEZF1_ENST00000427185.2_Missense_Mutation_p.D364N NM_001024613.2|NM_001160264.1 NP_001019784.2|NP_001153736.1 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 414 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1) 25 TTCTTGAGGTCAAAGTTCCTG 0.612000 42 141 0 0 1 0 0 YME1L1 10730 broad.mit.edu 37 10 27437951 27437951 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:27437951G>A ENST00000326799.3 - 2 200 c.52C>T c.(52-54)Cat>Tat p.H18Y YME1L1_ENST00000375972.3_Missense_Mutation_p.H18Y|YME1L1_ENST00000477432.1_Missense_Mutation_p.H18Y|YME1L1_ENST00000376016.3_Missense_Mutation_p.H18Y NM_139312.2 NP_647473.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 18 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 TTGATGAGATGACTCAGAGGA 0.343000 33 157 0 0 1 0 0 ESRRG 2104 broad.mit.edu 37 1 216850701 216850701 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:216850701G>A ENST00000391890.3 - 4 637 c.120C>T c.(118-120)gaC>gaT p.D40D ESRRG_ENST00000493603.1_Silent_p.D40D|ESRRG_ENST00000463665.1_Silent_p.D40D|ESRRG_ENST00000493748.1_Silent_p.D40D|ESRRG_ENST00000487276.1_Silent_p.D40D|ESRRG_ENST00000359162.2_Silent_p.D40D|ESRRG_ENST00000360012.3_Silent_p.D40D|ESRRG_ENST00000361525.3_Silent_p.D40D|ESRRG_ENST00000366937.1_Silent_p.D68D|ESRRG_ENST00000361395.2_Silent_p.D40D|ESRRG_ENST00000408911.3_Silent_p.D63D|ESRRG_ENST00000366940.2_Silent_p.D40D|ESRRG_ENST00000366938.2_Silent_p.D40D NM_001243515.1|NM_001243519.1 NP_001230444.1|NP_001230448.1 P62508 ERR3_HUMAN estrogen-related receptor gamma 63 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) TCCCACTGGCGTCTGAAGAGC 0.572000 39 77 0 0 1 0 0 IRX6 79190 broad.mit.edu 37 16 55363210 55363210 + Silent SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:55363210G>C ENST00000290552.7 + 5 2652 c.1320G>C c.(1318-1320)ccG>ccC p.P440P RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 440 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 GCCAGTACCCGTCTGGAGCAG 0.627000 3 51 0 0 1 0 0 CTH 1491 broad.mit.edu 37 1 70897772 70897772 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:70897772G>T ENST00000411986.2 + 7 833 c.635G>T c.(634-636)gGa>gTa p.G212V CTH_ENST00000370938.3_Missense_Mutation_p.G244V|CTH_ENST00000346806.2_Missense_Mutation_p.G200V NM_001190463.1 NP_001177392.1 P32929 CGL_HUMAN cystathionase (cystathionine gamma-lyase) 244 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) GCAGCTCTTGGAGCAGTTCCA 0.438000 14 35 1.02788e-11 1.08077e-11 1 1 0 SYNE1 23345 broad.mit.edu 37 6 152765587 152765587 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:152765587C>T ENST00000367255.5 - 30 4397 c.3796G>A c.(3796-3798)Gaa>Aaa p.E1266K SYNE1_ENST00000265368.4_Missense_Mutation_p.E1266K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1273K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E1256K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1266K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1273K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E1266K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1332K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1266 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AACAGATTTTCAGTATCCAAG 0.368000 HNSCC(10;0.0054) 25 38 0 0 1 0 0 COG8 84342 broad.mit.edu 37 16 69368866 69368866 + Nonsense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:69368866G>C ENST00000306875.4 - 3 1085 c.971C>G c.(970-972)tCa>tGa p.S324* COG8_ENST00000562081.1_Nonsense_Mutation_p.S324* NM_032382.4 NP_115758.3 Q96MW5 COG8_HUMAN component of oligomeric golgi complex 8 324 protein transport Golgi membrane|Golgi transport complex breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1) 9 CAGGAATTGTGAGACCTTCTG 0.592000 25 59 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32913201 32913201 + Missense_Mutation SNP G G C rs80359464 TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:32913201G>C ENST00000544455.1 + 11 4936 c.4709G>C c.(4708-4710)aGa>aCa p.R1570T BRCA2_ENST00000380152.3_Missense_Mutation_p.R1570T NM_000059.3 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 1570 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) CTAAAGTACAGAGAGGCCTGT 0.383000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 16 86 0 0 1 0 0 POU6F1 5463 broad.mit.edu 37 12 51585471 51585471 + Silent SNP G G A rs150600315 byFrequency TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:51585471G>A ENST00000389243.4 - 10 1407 c.468C>T c.(466-468)atC>atT p.I156I POU6F1_ENST00000333640.10_Silent_p.I156I|POU6F1_ENST00000550824.1_Silent_p.I156I Q14863 PO6F1_HUMAN POU class 6 homeobox 1 156 POU-specific. brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 11 AGAGCCGCCGGATCTTAAAGT 0.572000 43 93 0 0 1 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118365052 118365052 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:118365052G>C ENST00000528052.1 + 12 1398 c.1327G>C c.(1327-1329)Gaa>Caa p.E443Q PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.E443Q|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.E443Q P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 443 PLAT. lipid metabolic process calcium ion binding|triglyceride lipase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) GCAAAAGGGAGAAGAGAAGAC 0.403000 38 44 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23724503 23724503 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:23724503C>T ENST00000256797.4 - 1 318 c.150G>A c.(148-150)gcG>gcA p.A50A ERN2_ENST00000457008.2_Silent_p.A2A NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 2 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) TGACCGCACTCGCCATAGCGC 0.736000 7 5 0 0 1 0 0 CHD1 1105 broad.mit.edu 37 5 98236691 98236691 + Missense_Mutation SNP T T C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:98236691T>C ENST00000284049.3 - 6 832 c.683A>G c.(682-684)gAt>gGt p.D228G NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 228 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) ACTTCTTTTATCATTATCATA 0.363000 15 20 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121642098 121642098 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:121642098G>A ENST00000489711.1 + 11 1375 c.987G>A c.(985-987)agG>agA p.R329R SLC15A2_ENST00000295605.2_Silent_p.R298R NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 329 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) AAGCCATCAGGATGAATAGGA 0.403000 18 63 0 0 1 0 0 TSKU 25987 broad.mit.edu 37 11 76507100 76507100 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:76507100C>T ENST00000527881.1 + 2 1466 c.440C>T c.(439-441)tCa>tTa p.S147L TSKU_ENST00000333090.4_Missense_Mutation_p.S147L Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 147 extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) CGGGAGGTCTCAGTGTCTGCC 0.652000 27 117 0 0 1 0 0 PCNXL4 64430 broad.mit.edu 37 14 60585115 60585115 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:60585115G>C ENST00000406854.1 + 7 2201 c.1647G>C c.(1645-1647)ttG>ttC p.L549F PCNXL4_ENST00000406949.1_Missense_Mutation_p.L315F|PCNXL4_ENST00000404681.2_Missense_Mutation_p.L549F|PCNXL4_ENST00000317623.4_Missense_Mutation_p.L315F pecanex-like 4 (Drosophila) CTGTGCTTTTGACATCATGGA 0.338000 5 9 0 0 1 0 0 FH 2271 broad.mit.edu 37 1 241663770 241663770 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:241663770G>C ENST00000366560.3 - 9 1395 c.1357C>G c.(1357-1359)Cta>Gta p.L453V NM_000143.3 NP_000134.2 P07954 FUMH_HUMAN fumarate hydratase 453 fumarate metabolic process|tricarboxylic acid cycle cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex fumarate hydratase activity biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2) 26 Ovarian(103;0.103) all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118) OV - Ovarian serous cystadenocarcinoma(106;0.0214) Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109) ACCAACATTAGAGACTCATTC 0.388000 """Mis, N, F""" """lieomyomatosis, renal""" Hereditary Leiomyomatosis and Renal Cell Cancer 134 70 0 0 1 0 0 RHD 6007 broad.mit.edu 37 1 25599110 25599110 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:25599110C>T ENST00000328664.4 + 1 227 c.72C>T c.(70-72)ctC>ctT p.L24L RHD_ENST00000423810.2_Silent_p.L24L|RHD_ENST00000454452.2_Silent_p.L24L|RHD_ENST00000417538.2_Silent_p.L24L|RHD_ENST00000357542.4_Silent_p.L24L|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000568195.1_Silent_p.L24L|RHD_ENST00000342055.5_Silent_p.L24L NM_001282867.1|NM_016124.3 NP_001269796.1|NP_057208 Q02161 RHD_HUMAN Rh blood group, D antigen 24 integral to plasma membrane breast(2)|large_intestine(4)|lung(7)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) AAGCAGCTCTCATTCTCCTCT 0.532000 9 45 0 0 1 0 0 PER3 8863 broad.mit.edu 37 1 7902801 7902801 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:7902801G>C ENST00000377532.3 + 21 3843 c.3619G>C c.(3619-3621)Gaa>Caa p.E1207Q PER3_ENST00000361923.2_Missense_Mutation_p.E1198Q P56645 PER3_HUMAN period circadian clock 3 1198 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) GGTTCTGGTAGAAGACAGCTG 0.453000 20 55 0 0 1 0 0 AMER3 205147 broad.mit.edu 37 2 131520411 131520411 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:131520411G>A ENST00000423981.1 + 2 876 c.766G>A c.(766-768)Gat>Aat p.D256N AMER3_ENST00000321420.4_Missense_Mutation_p.D256N NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 GGTGTTCGCAGATGAGAGCTC 0.647000 58 54 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53084386 53084386 + Silent SNP G G A rs144551525 TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:53084386G>A ENST00000276480.7 - 10 1718 c.1035C>T c.(1033-1035)atC>atT p.I345I NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 345 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CACCCATGTCGATAACTTTGG 0.403000 37 159 0 0 1 0 0 USP28 57646 broad.mit.edu 37 11 113694393 113694393 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:113694393C>T ENST00000003302.4 - 12 1285 c.1217G>A c.(1216-1218)cGa>cAa p.R406Q USP28_ENST00000537706.1_Missense_Mutation_p.R406Q|USP28_ENST00000544967.1_Missense_Mutation_p.R114Q|USP28_ENST00000545540.1_Missense_Mutation_p.R281Q|USP28_ENST00000260188.5_Missense_Mutation_p.R406Q NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 406 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) TCTCTTATTTCGAATAAGCTC 0.318000 11 4 0 0 1 0 0 KLHL31 401265 broad.mit.edu 37 6 53516582 53516582 + Nonsense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:53516582C>T ENST00000370905.3 - 3 1859 c.1719G>A c.(1717-1719)tgG>tgA p.W573* KLHL31_ENST00000407079.1_Nonsense_Mutation_p.W573* NM_001003760.4 NP_001003760.2 Q9H511 KLH31_HUMAN kelch-like family member 31 573 regulation of transcription, DNA-dependent|transcription, DNA-dependent autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3) 20 Lung NSC(77;0.0158) CGCCCTCGTTCCAGCCCCCCA 0.687000 15 41 0 0 1 0 0 ZNF780A 284323 broad.mit.edu 37 19 40580552 40580552 + Missense_Mutation SNP T T G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:40580552T>G ENST00000450241.2 - 6 2006 c.1695A>C c.(1693-1695)caA>caC p.Q565H ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H O75290 Z780A_HUMAN zinc finger protein 780A 599 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GTCGAATAAGTTGCATATGAA 0.403000 6 211 0 0 1 0 0 IMP3 55272 broad.mit.edu 37 15 75932413 75932413 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:75932413C>T ENST00000314852.2 - 2 1040 c.97G>A c.(97-99)Gtg>Atg p.V33M IMP3_ENST00000403490.1_Missense_Mutation_p.V33M Q9NV31 IMP3_HUMAN IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast) 33 Arg-rich. rRNA processing nucleolus|ribonucleoprotein complex protein binding|rRNA binding large_intestine(1) 1 CGCCGCAGCACGCGCAGCTCG 0.657000 8 21 0 0 1 0 0 POLRMT 5442 broad.mit.edu 37 19 619263 619263 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:619263G>A ENST00000588649.2 - 14 3184 c.3100C>T c.(3100-3102)Cgc>Tgc p.R1034C NM_005035.3 NP_005026.3 O00411 RPOM_HUMAN polymerase (RNA) mitochondrial (DNA directed) 1034 Mediates interaction with TEFM. transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1) 20 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AAGACCTGGCGTACGAGATAG 0.637000 4 114 0 0 1 0 0 RASD2 23551 broad.mit.edu 37 22 35947637 35947637 + Missense_Mutation SNP A A G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:35947637A>G ENST00000216127.4 + 3 1001 c.359A>G c.(358-360)aAg>aGg p.K120R NM_014310.3 NP_055125.2 Q96D21 RHES_HUMAN RASD family, member 2 120 locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 13 CTGGAGGTCAAGTCCTGCCTG 0.597000 28 98 0 0 1 0 0 ZNF223 7766 broad.mit.edu 37 19 44571265 44571265 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:44571265C>G ENST00000591793.1 + 7 1697 c.1614C>G c.(1612-1614)ttC>ttG p.F538L ZNF223_ENST00000434772.3_Missense_Mutation_p.F428L Q9UK11 ZN223_HUMAN zinc finger protein 223 428 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 Prostate(69;0.0352) AAAAACCATTCAAATGTGAGG 0.408000 60 66 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53959484 53959484 + RNA SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:53959484G>C ENST00000454407.1 + 0 2176 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) TCATAGTGGAGAGAACCCTTA 0.383000 11 91 0 0 1 0 0 LMX1B 4010 broad.mit.edu 37 9 129455807 129455807 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:129455807G>C ENST00000355497.5 + 5 753 c.746G>C c.(745-747)cGa>cCa p.R249P LMX1B_ENST00000425646.2_Missense_Mutation_p.R226P|LMX1B_ENST00000373474.4_Missense_Mutation_p.R249P|LMX1B_ENST00000526117.1_Missense_Mutation_p.R249P|LMX1B_ENST00000561065.1_Missense_Mutation_p.R226P NM_001174146.1 NP_001167617.1 O60663 LMX1B_HUMAN LIM homeobox transcription factor 1, beta 226 dorsal/ventral pattern formation|in utero embryonic development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 15 AGCCAGGTCCGAGAGACACTG 0.612000 Nail-Patella Syndrome 48 39 0 0 1 0 0 SON 6651 broad.mit.edu 37 21 34926321 34926321 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr21:34926321C>T ENST00000356577.4 + 3 5259 c.4784C>T c.(4783-4785)tCt>tTt p.S1595F SON_ENST00000290239.6_Missense_Mutation_p.S1595F|SON_ENST00000300278.4_Missense_Mutation_p.S1595F|SON_ENST00000381679.4_Missense_Mutation_p.S1595F|SON_ENST00000381692.2_Intron NM_138927.1 NP_620305 P18583 SON_HUMAN SON DNA binding protein 1595 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 ACTCTATCTTCTACTGGTCCT 0.413000 25 51 0 0 1 0 0 BEND5 79656 broad.mit.edu 37 1 49208411 49208411 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:49208411C>T ENST00000371833.3 - 4 864 c.778G>A c.(778-780)Gaa>Aaa p.E260K AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron NM_024603.2 NP_078879.2 Q7L4P6 BEND5_HUMAN BEN domain containing 5 260 large_intestine(5)|lung(2)|skin(1) 8 TCGAGACATTCTGACTTTACT 0.443000 3 76 0 0 1 0 0 ASCC2 84164 broad.mit.edu 37 22 30185085 30185085 + Nonsense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:30185085C>A ENST00000397771.2 - 21 2368 c.2191G>T c.(2191-2193)Gaa>Taa p.E731* ASCC2_ENST00000307790.3_Nonsense_Mutation_p.E731*|ASCC2_ENST00000542393.1_Nonsense_Mutation_p.E655* Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 2 731 regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) TTGTTGGCTTCCTTCTTCCTG 0.622000 119 403 2.43435e-39 2.67125e-39 1 1 0 SYNE2 23224 broad.mit.edu 37 14 64545285 64545285 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:64545285G>C ENST00000357395.3 + 55 11354 c.210G>C c.(208-210)caG>caC p.Q70H SYNE2_ENST00000554584.1_Missense_Mutation_p.Q3741H|SYNE2_ENST00000555002.1_Missense_Mutation_p.Q342H|SYNE2_ENST00000344113.4_Missense_Mutation_p.Q3708H|SYNE2_ENST00000394768.2_Missense_Mutation_p.Q70H|SYNE2_ENST00000358025.3_Missense_Mutation_p.Q3708H Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 3708 Actin-binding.|CH 1. centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TGTTGCAGCAGAAAAGCAAAA 0.358000 8 12 0 0 1 0 0 BARD1 580 broad.mit.edu 37 2 215645993 215645993 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:215645993G>C ENST00000260947.4 - 4 739 c.605C>G c.(604-606)tCt>tGt p.S202C BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Missense_Mutation_p.S58C NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1 NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 202 cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1) 35 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CTTTTTTCCAGATCTTGCAGA 0.368000 Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 7 15 0 0 1 0 0 DFFA 1676 broad.mit.edu 37 1 10529339 10529339 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:10529339C>G ENST00000377038.3 - 2 260 c.193G>C c.(193-195)Gag>Cag p.E65Q DFFA_ENST00000377036.2_Missense_Mutation_p.E65Q NM_004401.2 NP_004392.1 O00273 DFFA_HUMAN DNA fragmentation factor, 45kDa, alpha polypeptide 65 CIDE-N. DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis cytosol|mitochondrion|nucleoplasm|plasma membrane deoxyribonuclease activity|identical protein binding large_intestine(3)|lung(2) 5 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) GTGCCATCCTCTGCCAGGACC 0.428000 26 61 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55540055 55540055 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:55540055C>T ENST00000220676.1 + 4 3761 c.3613C>T c.(3613-3615)Cca>Tca p.P1205S NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1205 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AGACATGGTTCCAATAGATCT 0.423000 20 77 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55537511 55537511 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:55537511G>A ENST00000220676.1 + 4 1217 c.1069G>A c.(1069-1071)Ggt>Agt p.G357S NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 357 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CAGTAAAACTGGTCCTTCTAA 0.363000 7 18 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32914175 32914175 + Missense_Mutation SNP G G A rs146351301 by1000genomes TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:32914175G>A ENST00000544455.1 + 11 5910 c.5683G>A c.(5683-5685)Gag>Aag p.E1895K BRCA2_ENST00000380152.3_Missense_Mutation_p.E1895K NM_000059.3 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 1895 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AGGTTGTTACGAGGCATTGGA 0.338000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 10 48 0 0 1 0 0 RUSC1-AS1 284618 broad.mit.edu 37 1 155290535 155290535 + RNA SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:155290535C>T ENST00000446880.1 - 0 410 RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA Q66K80 RUAS1_HUMAN TGGGAGGACTCGCTGCACGGA 0.542000 4 18 0 0 1 0 0 CCDC11 220136 broad.mit.edu 37 18 47777950 47777950 + Silent SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr18:47777950C>G ENST00000398545.4 - 4 795 c.678G>C c.(676-678)ctG>ctC p.L226L NM_145020.3 NP_659457.2 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 226 endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1) 20 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) TGTTCTCCATCAGCTCTTTCT 0.552000 36 63 0 0 1 0 0 EBNA1BP2 10969 broad.mit.edu 37 1 43637293 43637293 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:43637293G>A ENST00000431635.2 - 4 493 c.345C>T c.(343-345)ttC>ttT p.F115F EBNA1BP2_ENST00000236051.2_Silent_p.F60F|EBNA1BP2_ENST00000472982.1_5'UTR NM_001159936.1 NP_001153408.1 Q99848 EBP2_HUMAN EBNA1 binding protein 2 60 ribosome biogenesis membrane fraction|nucleolus protein binding endometrium(1)|kidney(2)|large_intestine(4)|lung(9) 16 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GATCCCGCTTGAATTCTGCCA 0.522000 146 109 0 0 1 0 0 CABLES2 81928 broad.mit.edu 37 20 60968519 60968519 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:60968519G>A ENST00000279101.5 - 6 865 c.857C>T c.(856-858)tCg>tTg p.S286L NM_031215.2 NP_112492.2 Q9BTV7 CABL2_HUMAN Cdk5 and Abl enzyme substrate 2 286 cell cycle|cell division|regulation of cell cycle|regulation of cell division cyclin-dependent protein kinase regulator activity endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1) 11 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) GGCTGGTGCCGACTTGGTGGG 0.637000 45 151 0 0 1 0 0 ZNF148 7707 broad.mit.edu 37 3 124952313 124952313 + Missense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:124952313C>A ENST00000360647.4 - 9 1742 c.1257G>T c.(1255-1257)gaG>gaT p.E419D ZNF148_ENST00000497929.1_5'UTR|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.E419D|ZNF148_ENST00000492394.1_Missense_Mutation_p.E419D|ZNF148_ENST00000485866.1_Missense_Mutation_p.E419D|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 419 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 AAACTTTGCTCTCTTCATATG 0.373000 13 49 4.36969e-10 4.54337e-10 1 1 0 SYNPO2 171024 broad.mit.edu 37 4 119951529 119951529 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:119951529G>A ENST00000307142.4 + 4 1795 c.1599G>A c.(1597-1599)acG>acA p.T533T SYNPO2_ENST00000434046.2_Silent_p.T533T|SYNPO2_ENST00000429713.2_Silent_p.T533T|SYNPO2_ENST00000448416.2_Intron NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 533 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 TGAGAACCACGACTTCTTACC 0.507000 23 20 0 0 1 0 0 FOCAD 54914 broad.mit.edu 37 9 20946772 20946772 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:20946772G>A ENST00000380249.1 + 32 3992 c.3628G>A c.(3628-3630)Gag>Aag p.E1210K FOCAD_ENST00000338382.6_Missense_Mutation_p.E1210K|FOCAD_ENST00000605086.1_Missense_Mutation_p.E646K NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 1210 integral to membrane binding TACAGAGGCTGAGGATGTTAT 0.448000 97 3 0 0 1 0 0 KLHL10 317719 broad.mit.edu 37 17 40004197 40004197 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:40004197G>C ENST00000293303.4 + 5 1618 c.1465G>C c.(1465-1467)Gat>Cat p.D489H NM_152467.3 NP_689680.2 Q6JEL2 KLH10_HUMAN kelch-like family member 10 489 cytoplasm breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 Breast(137;0.000162) AGGTGGCTTTGATGGAGCTAA 0.483000 86 113 0 0 1 0 0 UBE2O 63893 broad.mit.edu 37 17 74396299 74396299 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:74396299C>T ENST00000319380.7 - 8 1148 c.1084G>A c.(1084-1086)Gag>Aag p.E362K NM_022066.3 NP_071349.3 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 362 ATP binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 TTGGCTGGCTCTACCTTGGCT 0.582000 53 84 0 0 1 0 0 DIP2B 57609 broad.mit.edu 37 12 51117053 51117053 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:51117053C>G ENST00000301180.5 + 27 3269 c.3235C>G c.(3235-3237)Cca>Gca p.P1079A NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 1079 nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 CGTCAGACCTCCACATGCTCA 0.522000 36 98 0 0 1 0 0 MLLT6 4302 broad.mit.edu 37 17 36875796 36875796 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:36875796C>T ENST00000325718.7 + 13 2060 c.1969C>T c.(1969-1971)Cgg>Tgg p.R657W CTB-58E17.9_ENST00000579499.1_RNA NM_005937.3 NP_005928 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 657 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) CTGCAGCTTCCGGTGTCGGGG 0.657000 T MLL AL 16 35 0 0 1 0 0 FGL2 10875 broad.mit.edu 37 7 76828885 76828885 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:76828885C>G ENST00000248598.5 - 1 258 c.226G>C c.(226-228)Gag>Cag p.E76Q CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron NM_006682.2 NP_006673.1 Q14314 FGL2_HUMAN fibrinogen-like 2 76 signal transduction fibrinogen complex receptor binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 13 AACACCTCCTCGATCCTGCTG 0.507000 27 85 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129634083 129634083 + Missense_Mutation SNP A A T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:129634083A>T ENST00000421865.2 + 23 3301 c.3252A>T c.(3250-3252)aaA>aaT p.K1084N NM_000426.3|NM_001079823.1 NP_000417|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1084 Laminin EGF-like 12. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GTCATCCAAAATTCTCTGGTG 0.473000 12 18 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25274960 25274960 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:25274960C>T ENST00000218548.6 + 13 2132 c.1799C>T c.(1798-1800)cCg>cTg p.P600L ATP12A_ENST00000381946.3_Missense_Mutation_p.P594L NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 594 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) ATGAACTTTCCGACCTCCAAC 0.488000 61 28 0 0 1 0 0 CTTN 2017 broad.mit.edu 37 11 70281143 70281143 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:70281143G>A ENST00000301843.8 + 18 1734 c.1528G>A c.(1528-1530)Gag>Aag p.E510K CTTN_ENST00000376561.3_Missense_Mutation_p.E473K|CTTN_ENST00000346329.3_Missense_Mutation_p.E473K|CTTN_ENST00000538675.1_Missense_Mutation_p.E194K NM_005231.3 NP_005222.2 Q14247 SRC8_HUMAN cortactin 510 SH3. cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) GGGCGATGATGAGATCTCATT 0.557000 42 145 0 0 1 0 0 ATG9B 285973 broad.mit.edu 37 7 150714325 150714325 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:150714325G>C ENST00000605938.1 - 9 2162 c.2087C>G c.(2086-2088)tCt>tGt p.S696C ATG9B_ENST00000377974.2_Missense_Mutation_p.S696C|ATG9B_ENST00000444312.1_Missense_Mutation_p.S182C|ATG9B_ENST00000494791.1_5'UTR NM_173681.5 NP_775952.4 Q674R7 ATG9B_HUMAN autophagy related 9B 696 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGCACGCTGAGACAGCGAGGC 0.592000 23 31 0 0 1 0 0 BBS9 27241 broad.mit.edu 37 7 33644572 33644572 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:33644572G>A ENST00000242067.6 + 22 3138 c.2617G>A c.(2617-2619)Gag>Aag p.E873K BBS9_ENST00000350941.3_Missense_Mutation_p.E833K|BBS9_ENST00000355070.2_Missense_Mutation_p.E868K|BBS9_ENST00000354265.4_Missense_Mutation_p.E838K|BBS9_ENST00000396127.2_Missense_Mutation_p.E838K NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 873 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) TCTCACTGCAGAGACACCCAG 0.453000 Bardet-Biedl syndrome 15 18 0 0 1 0 0 HBS1L 10767 broad.mit.edu 37 6 135318567 135318567 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:135318567C>T ENST00000367837.5 - 6 973 c.767G>A c.(766-768)gGa>gAa p.G256E HBS1L_ENST00000527578.1_Missense_Mutation_p.G92E|HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000367826.2_Missense_Mutation_p.G214E|HBS1L_ENST00000415177.2_Missense_Mutation_p.G191E|HBS1L_ENST00000367824.4_Missense_Mutation_p.G92E NM_001145158.1|NM_006620.3 NP_001138630.1|NP_006611.1 Q9Y450 HBS1L_HUMAN HBS1-like (S. cerevisiae) 256 signal transduction GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 20 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702) CTGCTTCCCTCCTTGCCGCTT 0.542000 29 57 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19497282 19497282 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:19497282G>C ENST00000375267.2 - 26 3620 c.3617C>G c.(3616-3618)tCt>tGt p.S1206C UBR4_ENST00000375217.2_Missense_Mutation_p.S1206C|UBR4_ENST00000375226.2_Missense_Mutation_p.S1206C|UBR4_ENST00000375254.3_Missense_Mutation_p.S1206C Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 1206 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GCACCTGCTAGAGCCAATAGC 0.428000 71 37 0 0 1 0 0 IL17RA 23765 broad.mit.edu 37 22 17579721 17579721 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:17579721G>A ENST00000319363.6 + 4 500 c.367G>A c.(367-369)Gaa>Aaa p.E123K IL17RA_ENST00000477874.1_3'UTR NM_014339.5 NP_055154.3 Q96F46 I17RA_HUMAN interleukin 17 receptor A 123 fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1) 30 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) GAACACCAATGAACGTTTGTG 0.512000 26 102 0 0 1 0 0 BCDIN3D 144233 broad.mit.edu 37 12 50232675 50232675 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:50232675C>T ENST00000333924.4 - 2 399 c.358G>A c.(358-360)Gaa>Aaa p.E120K BCDIN3D-AS1_ENST00000548872.1_RNA|BCDIN3D-AS1_ENST00000549124.1_RNA NM_181708.2 NP_859059.1 Q7Z5W3 BN3D2_HUMAN BCDIN3 domain containing 120 Bin3-type SAM. methyltransferase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1) 9 CATTCTTTTTCGGCTCGCTTC 0.488000 OREG0021805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 50 0 0 1 0 0 CBLB 868 broad.mit.edu 37 3 105421029 105421029 + Nonsense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:105421029G>C ENST00000264122.4 - 12 2189 c.1868C>G c.(1867-1869)tCa>tGa p.S623* CBLB_ENST00000394027.3_Nonsense_Mutation_p.S645*|CBLB_ENST00000405772.1_Nonsense_Mutation_p.S623*|CBLB_ENST00000403724.1_Nonsense_Mutation_p.S623* NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 623 Pro-rich. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 ATTGACATTTGAACTCGCTGT 0.502000 Mis S AML 21 51 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71494799 71494799 + Nonsense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:71494799C>T ENST00000296755.7 + 5 5915 c.5617C>T c.(5617-5619)Caa>Taa p.Q1873* NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1873 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CTATGCCTATCAAAAGCCTGA 0.473000 29 7 0 0 1 0 0 NPTX1 4884 broad.mit.edu 37 17 78449360 78449360 + Silent SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:78449360G>T ENST00000306773.4 - 2 760 c.603C>A c.(601-603)atC>atA p.I201I NPTX1_ENST00000575212.1_5'UTR NM_002522.3 NP_002513.2 Q15818 NPTX1_HUMAN neuronal pentraxin I 201 central nervous system development|synaptic transmission|transport transport vesicle metal ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1) 11 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487) GGGCGGTCTCGATCTTGACCC 0.667000 32 53 1.90571e-15 2.02986e-15 1 1 0 HIST1H4I 8294 broad.mit.edu 37 6 27107240 27107240 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:27107240C>G ENST00000354348.2 + 1 165 c.153C>G c.(151-153)atC>atG p.I51M HIST1H2BK_ENST00000396891.4_Intron NM_003495.2 NP_003486.1 P62805 H4_HUMAN histone cluster 1, H4i 51 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding lung(1) 1 CTGGCCTCATCTATGAGGAGA 0.637000 T BCL6 NHL 185 141 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 4 107 0 0 1 0 0 ZNF253 56242 broad.mit.edu 37 19 19990939 19990939 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:19990939G>A ENST00000589717.1 + 3 302 c.210G>A c.(208-210)atG>atA p.M70I ZNF253_ENST00000355650.4_Intron NM_021047.2 NP_066385.2 O75346 ZN253_HUMAN zinc finger protein 253 70 KRAB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GACATGAGATGATTGCCAAAC 0.373000 6 33 0 0 1 0 0 PROZ 8858 broad.mit.edu 37 13 113814360 113814360 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:113814360C>T ENST00000342783.4 + 3 176 c.169C>T c.(169-171)Ctg>Ttg p.L57L PROZ_ENST00000375547.2_Silent_p.L35L NM_001256134.1 NP_001243063.1 P22891 PROZ_HUMAN protein Z, vitamin K-dependent plasma glycoprotein 35 Gla. blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|serine-type endopeptidase activity NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.216) all cancers(43;0.104) Menadione(DB00170) AAACGACGTTCTGGTGAGGTG 0.517000 72 233 0 0 1 0 0 ARHGAP5 394 broad.mit.edu 37 14 32560834 32560834 + Nonsense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:32560834C>G ENST00000345122.3 + 2 1274 c.959C>G c.(958-960)tCa>tGa p.S320* ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.S320*|ARHGAP5_ENST00000556611.1_Nonsense_Mutation_p.S320*|ARHGAP5_ENST00000432921.1_Nonsense_Mutation_p.S320*|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 320 FF 1. 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) AATACATTCTCAAAACATATA 0.299000 15 19 0 0 1 0 0 USP13 8975 broad.mit.edu 37 3 179371085 179371085 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:179371085C>T ENST00000263966.3 + 1 543 c.72C>T c.(70-72)atC>atT p.I24I USP13_ENST00000482333.1_3'UTR NM_003940.2 NP_003931.2 Q92995 UBP13_HUMAN ubiquitin specific peptidase 13 (isopeptidase T-3) 24 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 46 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) CAGGAGACATCGGCGAGCTGC 0.692000 4 3 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20177385 20177385 + Missense_Mutation SNP T T G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:20177385T>G ENST00000245957.5 + 16 1838 c.1762T>G c.(1762-1764)Tac>Gac p.Y588D C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 588 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) ATCCTGTCTCTACTACCGTGT 0.473000 18 56 0 0 1 0 0 RRNAD1 51093 broad.mit.edu 37 1 156698908 156698908 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:156698908C>T ENST00000368216.4 + 1 642 c.12C>T c.(10-12)atC>atT p.I4I RRNAD1_ENST00000368218.4_Silent_p.I4I|RRNAD1_ENST00000524343.1_Silent_p.I4I NM_015997.3 NP_057081.3 Q96FB5 RRNAD_HUMAN ribosomal RNA adenine dimethylase domain containing 1 4 integral to membrane rRNA (adenine-N6,N6-)-dimethyltransferase activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3) 9 TGCCGGGCATCTCCGCCCGAG 0.642000 10 36 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60921967 60921967 + Splice_Site SNP A A C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:60921967A>C ENST00000252999.3 - 7 1139 c.e7+1 LAMA5_ENST00000370677.3_Splice_Site|LAMA5_ENST00000370692.3_Splice_Site NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGAGGCACTCACACTGGCACT 0.687000 33 52 0 0 1 0 0 RANBP17 64901 broad.mit.edu 37 5 170319554 170319554 + Silent SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:170319554C>G ENST00000523189.1 + 4 584 c.420C>G c.(418-420)ctC>ctG p.L140L NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 140 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGAAGTTTCTCCAGGTAAGAA 0.348000 T TRD@ ALL 25 69 0 0 1 0 0 ODF1 4956 broad.mit.edu 37 8 103572958 103572958 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:103572958C>G ENST00000285402.3 + 2 755 c.599C>G c.(598-600)tCt>tGt p.S200C ODF1_ENST00000518835.1_Intron NM_024410.3 NP_077721.2 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 200 cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) AAGATCGAGTCTCCTTGCTAC 0.572000 29 19 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197398672 197398672 + Nonsense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:197398672G>T ENST00000367397.1 + 4 1771 c.913G>T c.(913-915)Gag>Tag p.E305* CRB1_ENST00000544212.1_Nonsense_Mutation_p.E405*|CRB1_ENST00000367399.2_Nonsense_Mutation_p.E812*|CRB1_ENST00000367400.3_Nonsense_Mutation_p.E924*|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Nonsense_Mutation_p.E900* P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 924 EGF-like 8. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 AGCCTGTGAGGAGGTTCAGTG 0.547000 28 62 8.16721e-17 8.75632e-17 1 1 0 SPAG17 200162 broad.mit.edu 37 1 118640379 118640379 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:118640379C>T ENST00000336338.5 - 7 990 c.925G>A c.(925-927)Gaa>Aaa p.E309K NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 309 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) AGATTTGTTTCAGGTTTCTCA 0.373000 13 31 0 0 1 0 0 MR1 3140 broad.mit.edu 37 1 181019244 181019244 + Silent SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:181019244G>C ENST00000367580.5 + 3 431 c.426G>C c.(424-426)ctG>ctC p.L142L MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Intron|MR1_ENST00000282990.6_Silent_p.L142L|MR1_ENST00000434571.2_Silent_p.L142L NM_001531.2 NP_001522.1 Q95460 HMR1_HUMAN major histocompatibility complex, class I-related 142 Alpha-2.|Ligand-binding. antigen processing and presentation of peptide antigen via MHC class I|immune response endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex MHC class I receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 18 AGGATTTCCTGATCTTCAATA 0.498000 39 47 0 0 1 0 0 GSDMC 56169 broad.mit.edu 37 8 130789625 130789625 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:130789625G>C ENST00000276708.4 - 2 1090 c.209C>G c.(208-210)tCt>tGt p.S70C NM_031415.2 NP_113603.1 Q9BYG8 GSDMC_HUMAN gasdermin C 70 mitochondrion autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 26 TAGGACTGAAGAACTTGGCTC 0.443000 34 73 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168834306 168834306 + Missense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:168834306C>A ENST00000464456.1 - 7 1990 c.790G>T c.(790-792)Gat>Tat p.D264Y MECOM_ENST00000433243.2_Missense_Mutation_p.D265Y|MECOM_ENST00000264674.3_Missense_Mutation_p.D329Y|MECOM_ENST00000472280.1_Missense_Mutation_p.D265Y|MECOM_ENST00000392736.3_Missense_Mutation_p.D264Y|MECOM_ENST00000460814.1_Missense_Mutation_p.D264Y|MECOM_ENST00000468789.1_Missense_Mutation_p.D264Y|MECOM_ENST00000494292.1_Missense_Mutation_p.D452Y NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 GACGTTTTATCCATAGCTGGG 0.478000 35 31 5.8336e-16 6.22378e-16 1 1 0 FMO2 2327 broad.mit.edu 37 1 171174608 171174608 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:171174608G>T ENST00000441535.1 + 7 1135 c.1018G>T c.(1018-1020)Gat>Tat p.D340Y RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.D340Y|RP1-127D3.4_ENST00000422841.1_RNA NM_001460.2 NP_001451.1 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 (non-functional) 340 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 22 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTTCCTTGAAGATTCACTCGT 0.418000 10 27 0.000673444 0.000686032 1 1 0 CADM3 57863 broad.mit.edu 37 1 159161793 159161793 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:159161793G>A ENST00000368125.4 + 2 313 c.156G>A c.(154-156)gtG>gtA p.V52V CADM3_ENST00000368124.4_Silent_p.V86V NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 52 Ig-like V-type. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) AGTGCCAAGTGAAAGATCACG 0.512000 91 57 0 0 1 0 0 ZDHHC20 253832 broad.mit.edu 37 13 21955650 21955650 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:21955650C>T ENST00000400590.3 - 11 1181 c.983G>A c.(982-984)aGt>aAt p.S328N ZDHHC20_ENST00000320220.9_3'UTR|ZDHHC20_ENST00000415724.1_Missense_Mutation_p.S328N|ZDHHC20_ENST00000494731.1_5'UTR|ZDHHC20_ENST00000382466.3_Missense_Mutation_p.S327N|ZDHHC20_ENST00000542645.1_Missense_Mutation_p.S265N Q5W0Z9 ZDH20_HUMAN zinc finger, DHHC-type containing 20 328 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 9 all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367) all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171) TTTTGATTCACTAAGTGGTTT 0.378000 35 14 0 0 1 0 0 NPAS2 4862 broad.mit.edu 37 2 101591943 101591943 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:101591943G>A ENST00000335681.5 + 14 1591 c.1306G>A c.(1306-1308)Gag>Aag p.E436K AC016738.3_ENST00000446644.1_RNA|AC016738.3_ENST00000439150.1_RNA|NPAS2_ENST00000542504.1_Missense_Mutation_p.E501K NM_002518.3 NP_002509.2 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 436 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCTGATGGCAGAGGCCAGCAC 0.577000 156 253 0 0 1 0 0 GOLGA8M 653720 broad.mit.edu 37 15 23261093 23261093 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:23261093G>A ENST00000450802.3 + 10 866 c.768G>A c.(766-768)atG>atA p.M256I NM_001282468.1|NM_001282472.1|NM_001282484.1|NM_001282490.1|NM_001282493.1|NM_001282494.1 NP_001269397.1|NP_001269401.1|NP_001269413.1|NP_001269419.1|NP_001269422.1|NP_001269423.1 AGCAGAGGATGAGAAAAATGT 0.458000 36 302 0 0 1 0 0 GRIK1 2897 broad.mit.edu 37 21 30934029 30934029 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr21:30934029C>G ENST00000399914.1 - 14 2748 c.2227G>C c.(2227-2229)Gag>Cag p.E743Q GRIK1_ENST00000327783.4_Missense_Mutation_p.E758Q|GRIK1_ENST00000399909.1_Missense_Mutation_p.E743Q|GRIK1_ENST00000389125.3_Missense_Mutation_p.E743Q|GRIK1_ENST00000389124.2_Missense_Mutation_p.E758Q|GRIK1_ENST00000399913.1_Missense_Mutation_p.E758Q|GRIK1_ENST00000399907.1_Missense_Mutation_p.E758Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.E760Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.E760Q P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 758 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) GTCACATACTCAATGCTGGTG 0.547000 48 31 0 0 1 0 0 DDC 1644 broad.mit.edu 37 7 50537777 50537777 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:50537777G>C ENST00000444124.2 - 12 1334 c.1134C>G c.(1132-1134)atC>atG p.I378M DDC_ENST00000357936.5_Missense_Mutation_p.I378M|DDC_ENST00000426377.1_Missense_Mutation_p.I300M|DDC_ENST00000431062.1_Missense_Mutation_p.I285M NM_001082971.1 NP_001076440 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 378 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) TCACCTTGCGGATATAAGCCT 0.348000 27 139 0 0 1 0 0 ADCK1 57143 broad.mit.edu 37 14 78397944 78397944 + Silent SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:78397944C>G ENST00000238561.5 + 10 1389 c.1290C>G c.(1288-1290)ctC>ctG p.L430L ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Silent_p.L362L NM_020421.3 NP_065154.2 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 437 Protein kinase. extracellular region ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2) 25 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) AGATGCTGCTCATCTTGAAGA 0.602000 25 43 0 0 1 0 0 ABCC2 1244 broad.mit.edu 37 10 101567904 101567904 + Missense_Mutation SNP A A C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:101567904A>C ENST00000370449.4 + 13 1846 c.1733A>C c.(1732-1734)aAg>aCg p.K578T NM_000392.3 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 578 ABC transmembrane type-1 1. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GATGCACAAAAGGCCTTCACC 0.463000 20 107 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39500145 39500145 + Splice_Site SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:39500145G>A ENST00000518318.2 + 9 1444 c.e9-1 POU6F2_ENST00000559001.1_Splice_Site|POU6F2_ENST00000403058.1_Splice_Site P78424 PO6F2_HUMAN POU class 6 homeobox 2 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 CATCTCCACAGATCCTCAAAC 0.453000 21 27 0 0 1 0 0 IFNA4 3441 broad.mit.edu 37 9 21186998 21186998 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:21186998G>A ENST00000421715.1 - 1 600 c.533C>T c.(532-534)tCa>tTa p.S178L NM_021068.2 NP_066546.1 P05014 IFNA4_HUMAN interferon, alpha 4 178 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CAAGTTTGTTGAAAACGAGAG 0.378000 324 34 0 0 1 0 0 GSDMA 284110 broad.mit.edu 37 17 38130640 38130640 + Missense_Mutation SNP T T G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:38130640T>G ENST00000301659.4 + 9 984 c.866T>G c.(865-867)cTt>cGt p.L289R NM_178171.4 NP_835465.2 Q96QA5 GSDMA_HUMAN gasdermin A 289 apoptosis|induction of apoptosis perinuclear region of cytoplasm NS(1)|endometrium(2)|large_intestine(3)|lung(1) 7 CTCAGCAAACTTCTAGGGAAG 0.512000 3 20 0 0 1 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133670119 133670119 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:133670119G>A ENST00000310926.4 - 6 1067 c.794C>T c.(793-795)tCa>tTa p.S265L SLCO2A1_ENST00000493729.1_Missense_Mutation_p.S189L NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 265 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 CAATAAAGCTGAAGAAATGAG 0.493000 33 33 0 0 1 0 0 ZNF480 147657 broad.mit.edu 37 19 52824897 52824897 + Missense_Mutation SNP T T A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:52824897T>A ENST00000595962.1 + 5 460 c.394T>A c.(394-396)Ttt>Att p.F132I ZNF480_ENST00000490272.1_Silent_p.P46P|ZNF480_ENST00000335090.6_Missense_Mutation_p.F55I|ZNF480_ENST00000334564.7_Missense_Mutation_p.F89I|CTD-2525I3.6_ENST00000594379.1_RNA NM_144684.2 NP_653285.2 Q8WV37 ZN480_HUMAN zinc finger protein 480 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) TGGAGTATCCTTTCACTTACA 0.378000 14 78 0 0 1 0 0 IMP4 92856 broad.mit.edu 37 2 131103254 131103254 + Missense_Mutation SNP G G A rs146322628 byFrequency TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:131103254G>A ENST00000259239.3 + 5 1129 c.421G>A c.(421-423)Gag>Aag p.E141K IMP4_ENST00000409935.1_Missense_Mutation_p.E141K NM_033416.1 NP_219484.1 Q96G21 IMP4_HUMAN IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast) 141 Brix. rRNA processing|translation nucleolus|ribonucleoprotein complex aminoacyl-tRNA ligase activity|ATP binding|protein binding central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 18 Colorectal(110;0.1) GGTCGTTCACGAGCATCGGGG 0.667000 48 36 0 0 1 0 0 ANKRD50 57182 broad.mit.edu 37 4 125591379 125591379 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:125591379G>A ENST00000504087.1 - 4 4090 c.3053C>T c.(3052-3054)tCt>tTt p.S1018F ANKRD50_ENST00000515641.1_Missense_Mutation_p.S839F NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 1018 NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 CCAGGCTGCAGACTGCAAAGC 0.488000 8 29 0 0 1 0 0 SLC5A4 6527 broad.mit.edu 37 22 32616910 32616910 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:32616910C>T ENST00000266086.4 - 14 1776 c.1765G>A c.(1765-1767)Gaa>Aaa p.E589K RP1-90G24.10_ENST00000434942.1_RNA NM_014227.2 NP_055042.1 Q9NY91 SC5A4_HUMAN solute carrier family 5 (glucose activated ion channel), member 4 589 carbohydrate transport|sodium ion transport integral to membrane symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 ATATTACCTTCTTCAACACCA 0.408000 47 65 0 0 1 0 0 DDX43 55510 broad.mit.edu 37 6 74119057 74119057 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:74119057G>A ENST00000370336.4 + 10 1424 c.1266G>A c.(1264-1266)caG>caA p.Q422Q DDX43_ENST00000479773.1_3'UTR NM_018665.2 NP_061135.2 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 422 Helicase ATP-binding. intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 CAGATAGGCAGACAGTTATGA 0.383000 47 138 0 0 1 0 0 IDH3B 3420 broad.mit.edu 37 20 2639436 2639436 + Missense_Mutation SNP G G C rs140692628 TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:2639436G>C ENST00000380843.4 - 12 1149 c.1119C>G c.(1117-1119)atC>atG p.I373M IDH3B_ENST00000380851.5_Intron|IDH3B_ENST00000488299.1_5'UTR NM_006899.3 NP_008830.2 O43837 IDH3B_HUMAN isocitrate dehydrogenase 3 (NAD+) beta 373 isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1) 14 NADH(DB00157) TGACAGACTTGATGAAGTCGG 0.552000 31 45 0 0 1 0 0 SLC18A2 6571 broad.mit.edu 37 10 119014792 119014792 + Silent SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:119014792C>A ENST00000298472.5 + 7 848 c.705C>A c.(703-705)ggC>ggA p.G235G SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 235 neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) CTGCAGTGGGCCCCCCCTTCG 0.572000 33 66 6.33695e-27 6.90727e-27 1 1 0 RYR3 6263 broad.mit.edu 37 15 34130198 34130198 + Missense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:34130198C>A ENST00000389232.4 + 89 12087 c.12017C>A c.(12016-12018)cCa>cAa p.P4006Q RYR3_ENST00000415757.3_Missense_Mutation_p.P4001Q NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 4006 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GAACACATGCCAAACGATTCC 0.463000 78 114 2.46799e-47 2.72186e-47 1 1 0 LONP2 83752 broad.mit.edu 37 16 48286132 48286132 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:48286132C>G ENST00000285737.4 + 2 417 c.324C>G c.(322-324)ttC>ttG p.F108L LONP2_ENST00000535754.1_Missense_Mutation_p.F108L NM_031490.2 NP_113678.2 Q86WA8 LONP2_HUMAN lon peptidase 2, peroxisomal 108 Lon. misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 TATGCCGTTTCCAGATTGTAC 0.502000 17 16 0 0 1 0 0 PLA2G4B 100137049 broad.mit.edu 37 15 42132996 42132996 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:42132996G>C ENST00000542534.2 + 9 977 c.937G>C c.(937-939)Gac>Cac p.D313H PLA2G4B_ENST00000452633.1_Missense_Mutation_p.D82H|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.D82H|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.D313H|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.D313H NM_005090.3 NP_005081.1 phospholipase A2, group IVB (cytosolic) all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371) GAAAGTCTTTGACCAGGACCT 0.597000 26 93 0 0 1 0 0 BTN3A1 11119 broad.mit.edu 37 6 26408131 26408131 + Missense_Mutation SNP C C G rs140260146 TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:26408131C>G ENST00000289361.6 + 4 1034 c.666C>G c.(664-666)atC>atG p.I222M BTN3A1_ENST00000476549.2_Missense_Mutation_p.I222M|BTN3A1_ENST00000414912.2_Missense_Mutation_p.I170M|BTN3A1_ENST00000425234.2_Missense_Mutation_p.I222M NM_001145008.1|NM_001145009.1|NM_007048.5 NP_001138480.1|NP_001138481.1|NP_008979.3 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 222 Ig-like V-type 2. lipid metabolic process integral to membrane breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 CCTGTACCATCAGAAGTTCCC 0.557000 221 16 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33364229 33364229 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:33364229C>T ENST00000374796.2 - 5 2828 c.258G>A c.(256-258)caG>caA p.Q86Q NCOA6_ENST00000359003.2_Silent_p.Q86Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 86 CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 GCTCCACCTTCTGTACTTTTA 0.453000 19 51 0 0 1 0 0 THOC6 79228 broad.mit.edu 37 16 3076366 3076366 + Splice_Site SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:3076366G>C ENST00000326266.8 + 6 659 c.363G>C c.(361-363)agG>agC p.R121S THOC6_ENST00000574549.1_Splice_Site_p.R97S|THOC6_ENST00000575576.1_Splice_Site_p.R97S|THOC6_ENST00000253952.9_Splice_Site_p.R121S NM_024339.3 NP_077315.2 Q86W42 THOC6_HUMAN THO complex 6 homolog (Drosophila) 121 R -> S (in Ref. 1; BAG36782). intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex RNA binding central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 13 CCTTCCCCAGGACCAGCCTGG 0.572000 15 40 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:146059006G>A ENST00000454497.2 - 21 2863 c.2726C>T c.(2725-2727)aCt>aTt p.T909I OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 973 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) AACAGGCACAGTTTCTCTCTC 0.463000 4 133 0 0 1 0 0 ARMCX5 64860 broad.mit.edu 37 X 101857861 101857861 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chrX:101857861G>C ENST00000604957.1 + 1 3414 c.792G>C c.(790-792)ttG>ttC p.L264F ARMCX5_ENST00000372742.1_Missense_Mutation_p.L264F|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.L264F|ARMCX5_ENST00000537008.1_Missense_Mutation_p.L264F|ARMCX5_ENST00000536530.1_Missense_Mutation_p.L264F|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.L264F NM_001168478.1 NP_001161950.1 Q6P1M9 ARMX5_HUMAN armadillo repeat containing, X-linked 5 264 binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 22 TTCGACCTTTGACCAAGATCC 0.483000 30 52 0 0 1 0 0 ACY1 95 broad.mit.edu 37 3 52019910 52019910 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:52019910G>C ENST00000458031.2 + 7 808 c.577G>C c.(577-579)Gag>Cag p.E193Q ACY1_ENST00000494103.1_Missense_Mutation_p.E103Q|ACY1_ENST00000476854.1_Missense_Mutation_p.E103Q|ACY1_ENST00000476351.1_Missense_Mutation_p.E68Q|ACY1_ENST00000404366.2_Missense_Mutation_p.E103Q|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.E204Q|ACY1_ENST00000468068.1_3'UTR Q03154 ACY1_HUMAN aminoacylase 1 103 cellular amino acid metabolic process|proteolysis cytosol aminoacylase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) L-Aspartic Acid(DB00128) CAAGGATTCTGAGGGCTACAT 0.552000 9 19 0 0 1 0 0 USP40 55230 broad.mit.edu 37 2 234386116 234386116 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:234386116G>A ENST00000251722.6 - 32 3747 c.3630C>T c.(3628-3630)atC>atT p.I1210I USP40_ENST00000450966.1_Silent_p.I1222I|USP40_ENST00000427112.2_Silent_p.I1210I Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 1210 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) CACTGGAGAGGATGTAGCTGC 0.602000 15 45 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155903521 155903521 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:155903521G>A ENST00000368320.3 - 2 183 c.158C>T c.(157-159)tCa>tTa p.S53L KIAA0907_ENST00000368321.3_Missense_Mutation_p.S53L|KIAA0907_ENST00000368319.3_Missense_Mutation_p.S53L|KIAA0907_ENST00000482337.1_5'UTR Q7Z7F0 K0907_HUMAN KIAA0907 53 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) CAAGGCTCCTGAAGGAGCAGC 0.592000 10 22 0 0 1 0 0 SEMA4B 10509 broad.mit.edu 37 15 90764303 90764303 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:90764303C>G ENST00000411539.2 + 5 833 c.573C>G c.(571-573)ttC>ttG p.F191L SEMA4B_ENST00000332496.6_Missense_Mutation_p.F191L|SEMA4B_ENST00000379122.3_Missense_Mutation_p.F186L NM_198925.2 NP_945119.1 sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1) 12 Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) ACCCGAATTTCAAGTCCACTG 0.572000 OREG0023469 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 5 0 0 1 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135820922 135820922 + Missense_Mutation SNP T T C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:135820922T>C ENST00000264977.3 + 11 3618 c.3001T>C c.(3001-3003)Tat>Cat p.Y1001H PPP2R3A_ENST00000490467.1_Missense_Mutation_p.Y265H|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.Y380H NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 1001 EF-hand 2. protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GGAGTACTTCTATGAGGAGCA 0.468000 22 29 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21607722 21607722 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:21607722C>T ENST00000392288.2 + 4 2370 c.2261C>T c.(2260-2262)tCa>tTa p.S754L ZNF493_ENST00000355504.4_Missense_Mutation_p.S626L|CTD-2561J22.3_ENST00000600810.1_Intron NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 626 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 AGGCGGTCTTCACATCTTAGT 0.373000 9 4 0 0 1 0 0 TBRG4 9238 broad.mit.edu 37 7 45142089 45142089 + Splice_Site SNP A A C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:45142089A>C ENST00000258770.3 - 7 1299 c.1178T>G c.(1177-1179)gTa>gGa p.V393G TBRG4_ENST00000361278.3_Splice_Site_p.V283G|TBRG4_ENST00000494076.1_Splice_Site_p.V393G|TBRG4_ENST00000395655.4_Splice_Site_p.V283G NM_004749.3 NP_004740.2 Q969Z0 TBRG4_HUMAN transforming growth factor beta regulator 4 393 apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation mitochondrion ATP binding|protein binding|protein kinase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2) 17 CTTCTCATGTACCTGGGCAAG 0.597000 24 168 0 0 1 0 0 CNOT11 55571 broad.mit.edu 37 2 101885518 101885518 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:101885518G>C ENST00000289382.3 + 6 1418 c.1255G>C c.(1255-1257)Gat>Cat p.D419H NM_017546.4 NP_060016.3 CCR4-NOT transcription complex, subunit 11 TACAGCTGTTGATCTACCTCC 0.284000 5 24 0 0 1 0 0 SEMA3B 7869 broad.mit.edu 37 3 50314055 50314055 + RNA SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:50314055C>T ENST00000418948.1 + 0 2402 Q13214 SEM3B_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B axon guidance|cell-cell signaling endoplasmic reticulum|extracellular region|membrane receptor activity central_nervous_system(2)|kidney(1)|lung(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CCCCTGGAGTCGCGGAGAAAG 0.721000 14 8 0 0 1 0 0 NOS3 4846 broad.mit.edu 37 7 150696118 150696118 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:150696118G>A ENST00000297494.3 + 8 1258 c.901G>A c.(901-903)Gaa>Aaa p.E301K NOS3_ENST00000461406.1_Missense_Mutation_p.E95K|NOS3_ENST00000484524.1_Missense_Mutation_p.E301K|NOS3_ENST00000467517.1_Missense_Mutation_p.E301K NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 301 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) TGATCCCCCAGAACTCTTCCT 0.657000 44 227 0 0 1 0 0 TBCE 6905 broad.mit.edu 37 1 235611710 235611710 + Silent SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:235611710C>G ENST00000543662.1 + 17 1705 c.1599C>G c.(1597-1599)ctC>ctG p.L533L TBCE_ENST00000366601.3_Silent_p.L482L|TBCE_ENST00000406207.1_Silent_p.L482L|TBCE_ENST00000472011.1_3'UTR Q15813 TBCE_HUMAN tubulin folding cofactor E 482 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 14 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) CACGTCTTCTCAAAGTTCCTG 0.403000 28 117 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118624183 118624183 + Silent SNP T T C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:118624183T>C ENST00000336338.5 - 14 1910 c.1845A>G c.(1843-1845)aaA>aaG p.K615K NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 615 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TCAGTTTCCCTTTTTCATCAA 0.448000 3 87 0 0 1 0 0 NOBOX 135935 broad.mit.edu 37 7 144097329 144097329 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:144097329C>T ENST00000467773.1 - 5 920 c.921G>A c.(919-921)caG>caA p.Q307Q NOBOX_ENST00000223140.5_Silent_p.Q222Q|NOBOX_ENST00000483238.1_Silent_p.Q307Q NM_001080413.3 NP_001073882.3 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 307 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) CCCCCACCGTCTGGGCAATCT 0.552000 30 60 0 0 1 0 0 SOX4 6659 broad.mit.edu 37 6 21595158 21595158 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:21595158G>T ENST00000244745.1 + 1 1187 c.393G>T c.(391-393)agG>agT p.R131S SOX4_ENST00000543472.1_Missense_Mutation_p.R131S NM_003107.2 NP_003098.1 Q06945 SOX4_HUMAN SRY (sex determining region Y)-box 4 131 canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation mitochondrion|nucleus core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 6 Ovarian(93;0.163) all cancers(50;0.0751)|Epithelial(50;0.155) ACCGGCCCAGGAAGAAGGTGA 0.642000 5 215 2.0095e-06 2.06313e-06 1 1 0 CHERP 10523 broad.mit.edu 37 19 16653168 16653168 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:16653168C>G ENST00000546361.2 - 1 173 c.22G>C c.(22-24)Gat>Cat p.D8H CHERP_ENST00000198939.6_Missense_Mutation_p.D8H|CTD-3222D19.2_ENST00000409035.1_Intron NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 8 cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 GTCTCACCATCGGGGGGCAGC 0.726000 3 14 0 0 1 0 0 RBM48 84060 broad.mit.edu 37 7 92158136 92158136 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:92158136G>A ENST00000481551.1 + 1 50 c.9G>A c.(7-9)tcG>tcA p.S3S RBM48_ENST00000265732.5_Silent_p.S3S Q5RL73 CG064_HUMAN RNA binding motif protein 48 3 nucleotide binding AGATGGCGTCGAGCGGCGGGG 0.567000 28 35 0 0 1 0 0 RARS2 57038 broad.mit.edu 37 6 88299660 88299660 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:88299660G>A ENST00000369536.5 - 1 61 c.16C>T c.(16-18)Cgc>Tgc p.R6C NM_020320.3 NP_064716.2 Q5T160 SYRM_HUMAN arginyl-tRNA synthetase 2, mitochondrial 6 arginyl-tRNA aminoacylation mitochondrial matrix arginine-tRNA ligase activity|ATP binding|protein binding p.R6C(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0456) ATAGCGCGGCGAAAGCCGCAC 0.672000 OREG0031911 type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) 45 25 0 0 1 0 0 TCF20 6942 broad.mit.edu 37 22 42607575 42607575 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:42607575G>C ENST00000359486.3 - 1 3873 c.3737C>G c.(3736-3738)tCt>tGt p.S1246C TCF20_ENST00000335626.4_Missense_Mutation_p.S1246C NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1246 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GTTTTGAGAAGAATGATCCTC 0.483000 21 60 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53062480 53062480 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:53062480G>C ENST00000276480.7 - 16 2547 c.1864C>G c.(1864-1866)Cga>Gga p.R622G NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 622 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TCCAGGATTCGATTTTTTTTC 0.413000 16 77 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21128567 21128567 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:21128567G>C ENST00000261383.3 - 12 1770 c.1771C>G c.(1771-1773)Caa>Gaa p.Q591E DNAH3_ENST00000415178.1_Missense_Mutation_p.Q591E NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 591 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TTGAAAGTTTGAATCAAAAAA 0.363000 4 58 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20803462 20803462 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:20803462C>G ENST00000359062.3 + 14 2893 c.2853C>G c.(2851-2853)atC>atG p.I951M PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 951 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TGGCTGATATCAATGGTCCAG 0.348000 32 31 0 0 1 0 0 FDXR 2232 broad.mit.edu 37 17 72860373 72860373 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:72860373G>A ENST00000455107.2 - 10 1183 c.767C>T c.(766-768)tCc>tTc p.S256F FDXR_ENST00000583917.1_Missense_Mutation_p.S272F|FDXR_ENST00000420580.2_Missense_Mutation_p.S260F|FDXR_ENST00000293195.5_Missense_Mutation_p.S300F|FDXR_ENST00000581530.1_Missense_Mutation_p.S306F|FDXR_ENST00000544854.1_Missense_Mutation_p.S248F|FDXR_ENST00000442102.2_Missense_Mutation_p.S343F|FDXR_ENST00000582944.1_Missense_Mutation_p.S292F|FDXR_ENST00000413947.2_Missense_Mutation_p.S331F P22570 ADRO_HUMAN ferredoxin reductase 300 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) CCAGGCACGGGAGGCCGATGC 0.692000 35 41 0 0 1 0 0 TMEM214 54867 broad.mit.edu 37 2 27260564 27260564 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:27260564G>A ENST00000238788.9 + 9 1208 c.1146G>A c.(1144-1146)aaG>aaA p.K382K TMEM214_ENST00000404032.3_Silent_p.K337K NM_017727.4 NP_060197.4 Q6NUQ4 TM214_HUMAN transmembrane protein 214 382 integral to membrane protein binding kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 CTGAGATGAAGAAAGAGGTGA 0.547000 23 98 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 135038330 135038330 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:135038330C>G ENST00000304613.3 + 30 5207 c.5186C>G c.(5185-5187)tCc>tGc p.S1729C KNDC1_ENST00000368572.2_Missense_Mutation_p.S1731C Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 1729 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CACCAGGTCTCCAGCGAGAAG 0.577000 36 10 0 0 1 0 0 GRB10 2887 broad.mit.edu 37 7 50737442 50737442 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:50737442G>C ENST00000403097.1 - 6 1243 c.463C>G c.(463-465)Ccg>Gcg p.P155A GRB10_ENST00000402497.1_Missense_Mutation_p.P103A|GRB10_ENST00000406641.1_Missense_Mutation_p.P103A|GRB10_ENST00000401949.1_Missense_Mutation_p.P161A|GRB10_ENST00000398810.2_Missense_Mutation_p.P103A|GRB10_ENST00000407526.1_Missense_Mutation_p.P103A|GRB10_ENST00000402578.1_Missense_Mutation_p.P103A|GRB10_ENST00000357271.5_Missense_Mutation_p.P161A|GRB10_ENST00000398812.2_Missense_Mutation_p.P161A|GRB10_ENST00000335866.3_Missense_Mutation_p.P103A|GRB10_ENST00000439599.1_Missense_Mutation_p.P155A Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 161 insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|SH3/SH2 adaptor activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 41 Glioma(55;0.08)|all_neural(89;0.245) GCCTGGCTCGGAGGTAAAGAA 0.592000 Russell-Silver syndrome 34 31 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30934886 30934886 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:30934886C>T ENST00000355537.3 + 2 564 c.417C>T c.(415-417)ttC>ttT p.F139F NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 139 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.F139F(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GCAAGCGCTTCCGCTTCAACA 0.637000 207 50 0 0 1 0 0 PI4KAP2 375133 broad.mit.edu 37 22 21828938 21828938 + RNA SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:21828938C>T ENST00000450651.1 - 0 1870 endometrium(3)|urinary_tract(1) 4 TTTGCAGCCTCGCGCTCAGTC 0.637000 19 22 0 0 1 0 0 RPL3 6122 broad.mit.edu 37 22 39712783 39712783 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:39712783C>G ENST00000216146.4 - 4 602 c.429G>C c.(427-429)aaG>aaC p.K143N RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_Missense_Mutation_p.K91N NM_000967.3|NM_001033853.1 NP_000958.1|NP_001029025.1 P39023 RL3_HUMAN ribosomal protein L3 143 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Melanoma(58;0.04) CCAGCTGCTTCTTGCCATCCT 0.547000 OREG0026575 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 106 0 0 1 0 0 PLA2G7 7941 broad.mit.edu 37 6 46682224 46682224 + Missense_Mutation SNP A A G rs149733733 TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:46682224A>G ENST00000274793.7 - 5 639 c.443T>C c.(442-444)gTt>gCt p.V148A PLA2G7_ENST00000537365.1_Missense_Mutation_p.V148A|PLA2G7_ENST00000538237.1_Missense_Mutation_p.V103A|PLA2G7_ENST00000541026.1_Missense_Mutation_p.V21A NM_005084.3 NP_005075.3 Q13093 PAFA_HUMAN phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) 148 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1) 14 Lung(136;0.192) ATGAGAAAAAACAACAAGTGG 0.368000 58 477 0 0 1 0 0 OR4A5 81318 broad.mit.edu 37 11 51412330 51412330 + Silent SNP T T C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:51412330T>C ENST00000319760.6 - 1 118 c.66A>G c.(64-66)caA>caG p.Q22Q NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) ATAATGCTTTTTGCACACCAG 0.428000 10 35 0 0 1 0 0 AMZ2P1 201283 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 5 174 0 0 1 0 0 BARHL2 343472 broad.mit.edu 37 1 91182377 91182377 + Frame_Shift_Del DEL G G - TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:91182377delG ENST00000370445.4 - 1 417 c.376delC c.(376-378)cagfs p.Q127fs NM_020063.1 NP_064447.1 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 127 Gln/Pro-rich. nucleus sequence-specific DNA binding cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) CCCAGCTGCTGGGGGggcggc 0.692 2 4 --- --- --- --- SLAMF1 6504 broad.mit.edu 37 1 160589601 160589601 + Frame_Shift_Del DEL T T - TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:160589601delT ENST00000302035.6 - 5 1178 c.829delA c.(829-831)agcfs p.S277fs SLAMF1_ENST00000538290.1_Intron|SLAMF1_ENST00000355199.3_Frame_Shift_Del_p.S277fs|SLAMF1_ENST00000235739.5_Frame_Shift_Del_p.S247fs NM_003037.2 NP_003028.1 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family member 1 277 interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) ATCGTAAGGCTTTTTTTTTCC 0.433 7 486 --- --- --- --- LOC100507073 100507073 broad.mit.edu 37 2 66802106 66802107 + RNA INS - - CCCCTT rs70947305 by1000genomes TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:66802106_66802107insCCCCTT ENST00000433396.1 + 0 136 GTctgcccccaccccttcccct 0.535 4 4 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91886031 91886032 + RNA DEL AA AA - TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:91886031_91886032delAA ENST00000436174.1 - 0 777 CACTGAAATGAAAAAAAAAAAA 0.272 10 56 --- --- --- --- PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG GACGGG - rs112040677 TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:131129929_131129934delGACGGG ENST00000175756.5 + 13 1214_1219 c.1113_1118delGACGGG c.(1111-1119)cagacgggg>cag p.TG378del PTPN18_ENST00000347849.3_In_Frame_Del_p.TG271del NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) 378 Missing (in Ref. 1; CAA56105). cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity p.T378_G379delTG(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) gtgggacgcagacggggacggggacg 0.777 2 4 --- --- --- --- ANO10 55129 broad.mit.edu 37 3 43647213 43647213 + Frame_Shift_Del DEL T T - TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:43647213delT ENST00000292246.3 - 2 302 c.132delA c.(130-132)aaafs p.K44fs ANO10_ENST00000414522.2_Frame_Shift_Del_p.K44fs|ANO10_ENST00000350459.4_Frame_Shift_Del_p.K44fs|ANO10_ENST00000451430.2_Frame_Shift_Del_p.K44fs|ANO10_ENST00000396091.3_Frame_Shift_Del_p.K44fs NM_018075.3 NP_060545.3 Q9NW15 ANO10_HUMAN anoctamin 10 44 cell death chloride channel complex chloride channel activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3) 29 CACCTCCATCTTTTTTTTTAG 0.408 8 76 --- --- --- --- H1FOO 132243 broad.mit.edu 37 3 129268112 129268113 + Frame_Shift_Ins INS - - G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:129268112_129268113insG ENST00000324382.2 + 3 652_653 c.647_648insG c.(646-651)aaggtgfs p.V217fs H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.V78fs NM_153833.1 NP_722575.1 Q8IZA3 H1FOO_HUMAN H1 histone family, member O, oocyte-specific 217 meiosis|nucleosome assembly cytoplasm|nucleosome DNA binding endometrium(1)|lung(4)|skin(1) 6 GAGGCTAGGAAGGTGCCCCCCA 0.649 3 5 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1388441 1388442 + Frame_Shift_Ins INS - - CG rs144787346 byFrequency TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:1388441_1388442insCG ENST00000324803.4 + 1 3102_3103 c.142_143insCG c.(142-144)atgfs p.M48fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 48 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CTGCTCACACATGCCCATGTGG 0.644 9 1049 --- --- --- --- PCDHB4 56131 broad.mit.edu 37 5 140502486 140502487 + Frame_Shift_Ins INS - - A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:140502486_140502487insA ENST00000194152.1 + 1 906_907 c.906_907insA c.(907-909)aaafs p.K303fs NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 303 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding p.K305fs*12(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAATACTGTTGAAAAAAAAATT 0.366 8 137 --- --- --- --- ZNRD1-AS1 80862 broad.mit.edu 37 6 29977389 29977393 + RNA DEL CTTCT CTTCT - TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:29977389_29977393delCTTCT ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA AGAACCCTGACTTCTCTTTCTGCAA 0.488 7 38 --- --- --- --- WBSCR28 135886 broad.mit.edu 37 7 73280067 73280068 + Frame_Shift_Ins INS - - C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:73280067_73280068insC ENST00000320531.2 + 3 698_699 c.662_663insC c.(661-666)cacacgfs p.T222fs NM_182504.3 NP_872310.2 Q6UE05 WBS28_HUMAN Williams-Beuren syndrome chromosome region 28 222 integral to membrane breast(2)|kidney(2)|lung(6)|skin(1) 11 Lung NSC(55;0.159) GCCTTTGAGCACACGACCCAGC 0.629 7 511 --- --- --- --- BHLHA15 168620 broad.mit.edu 37 7 97842081 97842083 + In_Frame_Del DEL CAG CAG - TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:97842081_97842083delCAG ENST00000609256.1 + 2 586_588 c.460_462delCAG c.(460-462)cagdel p.Q158del BHLHA15_ENST00000314018.2_In_Frame_Del_p.Q158del Q7RTS1 BHA15_HUMAN basic helix-loop-helix family, member a15 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding CCAGCACTACCAGCAGCAGCAGC 0.665 2 4 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110455173 110455174 + Splice_Site INS - - G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:110455173_110455174insG ENST00000378402.5 + 36 4497 c.e36-1 NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTTTATGGCAGGTTCATTTTC 0.322 HNSCC(38;0.096) 8 116 --- --- --- --- SLC45A4 57210 broad.mit.edu 37 8 142228490 142228492 + In_Frame_Del DEL GCC GCC - TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:142228490_142228492delGCC ENST00000519067.1 - 4 1397_1399 c.1094_1096delGGC c.(1093-1098)cggcac>cac p.R365del SLC45A4_ENST00000517878.1_In_Frame_Del_p.R416del|SLC45A4_ENST00000433583.2_In_Frame_Del_p.R358del|SLC45A4_ENST00000024061.3_In_Frame_Del_p.R365del Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 416 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CGGAACGCGTGCCGCCGCCGCCG 0.675 7 265 --- --- --- --- FOXD4 2298 broad.mit.edu 37 9 117406 117407 + Frame_Shift_Ins INS - - G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:117406_117407insG ENST00000382500.2 - 1 1010_1011 c.713_714insC c.(712-714)ccgfs p.P238fs NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 238 Pro-rich. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) CTGGCTGCGGCGGGGCAGGGGC 0.743 7 213 --- --- --- --- TFAM 7019 broad.mit.edu 37 10 60148570 60148570 + Frame_Shift_Del DEL A A - rs78912196 TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:60148570delA ENST00000487519.1 + 4 958 c.432delA c.(430-432)acafs p.T144fs TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs|TFAM_ENST00000373899.3_3'UTR NM_001270782.1|NM_003201.2 NP_001257711.1|NP_003192.1 Q00059 TFAM_HUMAN transcription factor A, mitochondrial 144 DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter mitochondrial nucleoid mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 AAGCTATGACAAAAAAAAAAG 0.269 8 25 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81052006 81052026 + In_Frame_Del DEL GCAGCAGCGGCAGTGGCAGCA GCAGCAGCGGCAGTGGCAGCA - TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:81052006_81052026delGCAGCAGCGGCAGTGGCAGCA ENST00000334512.5 + 11 1422_1442 c.850_870delGCAGCAGCGGCAGTGGCAGCA c.(850-870)gcagcagcggcagtggcagcadel p.AAAAVAA284del ZMIZ1_ENST00000478357.1_3'UTR NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 284 Ala-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) ggcagccgctgcagcagcggcagtggcagcagcagcagcCA 0.652 48 82 --- --- --- --- PAK6 56924 broad.mit.edu 37 15 40566413 40566424 + In_Frame_Del DEL CCCCAGTGCAAG CCCCAGTGCAAG - rs74468066 TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:40566413_40566424delCCCCAGTGCAAG ENST00000560346.1 + 10 2397_2408 c.1814_1825delCCCCAGTGCAAG c.(1813-1827)tccccagtgcaagcc>tcc p.PVQA606del PAK6_ENST00000260404.4_In_Frame_Del_p.PVQA606del|PAK6_ENST00000453867.1_In_Frame_Del_p.PVQA606del|PAK6_ENST00000455577.2_Intron|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000441369.1_In_Frame_Del_p.PVQA606del|PAK6_ENST00000542403.2_In_Frame_Del_p.PVQA606del Q9NQU5 PAK6_HUMAN p21 protein (Cdc42/Rac)-activated kinase 6 606 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2) 24 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) TTCAGTGACTCCCCAGTGCAAGCCATGAAGAG 0.571 OREG0023057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 87 --- --- --- --- CRTC3-AS1 101926895 broad.mit.edu 37 15 91190540 91190541 + RNA INS - - TTA TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:91190540_91190541insTTA ENST00000559531.1 - 0 294 ccacaatcctcctccacacccc 0.629 2 4 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372597 74372597 + RNA DEL A A - TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:74372597delA ENST00000429810.2 - 0 1599 TTCCCAGGACAAAAAAAAAAA 0.403 4 9 --- --- --- --- ANKRD11 29123 broad.mit.edu 37 16 89349651 89349651 + Frame_Shift_Del DEL G G - TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:89349651delG ENST00000301030.4 - 9 3759 c.3299delC c.(3298-3300)tctfs p.S1100fs ANKRD11_ENST00000378330.2_Frame_Shift_Del_p.S1100fs NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1100 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TTTTTTTTCAGAGAAGTCTTC 0.463 22 39 --- --- --- --- C17orf85 55421 broad.mit.edu 37 17 3721809 3721811 + In_Frame_Del DEL TCC TCC - TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:3721809_3721811delTCC ENST00000158149.3 - 11 1111_1113 c.216_218delGGA c.(214-219)gaggaa>gaa p.72_73EE>E C17orf85_ENST00000389005.4_In_Frame_Del_p.352_353EE>E Q53F19 CQ085_HUMAN chromosome 17 open reading frame 85 352 nucleotide binding endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) ctcttcctcttcctcctcctcct 0.507 9 169 --- --- --- --- WRAP53 55135 broad.mit.edu 37 17 7606722 7606722 + Frame_Shift_Del DEL C C - rs7640 byFrequency TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:7606722delC ENST00000316024.5 + 10 3913 c.1565delC c.(1564-1566)gcgfs p.A522fs WRAP53_ENST00000396463.2_Frame_Shift_Del_p.A522fs|WRAP53_ENST00000534050.1_Frame_Shift_Del_p.A489fs|WRAP53_ENST00000457584.2_Frame_Shift_Del_p.A522fs|WRAP53_ENST00000431639.2_Frame_Shift_Del_p.A522fs Q9BUR4 WAP53_HUMAN WD repeat containing, antisense to TP53 522 A -> G (in dbSNP:rs7640). positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding p.A522G(1) endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 TGTGGGGGGGCGCCAGACTCC 0.582 7 179 --- --- --- --- ZFP36 7538 broad.mit.edu 37 19 39898948 39898950 + In_Frame_Del DEL CAC CAC - TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:39898948_39898950delCAC ENST00000597629.1 + 2 682_684 c.608_610delCAC c.(607-612)tcacca>tca p.P207del ZFP36_ENST00000248673.3_In_Frame_Del_p.P201del P26651 TTP_HUMAN ZFP36 ring finger protein 201 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding large_intestine(1)|lung(5)|pancreas(1) 7 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CGCCGGACCTCACCACCACCACC 0.685 8 725 --- --- --- --- COL6A2 1292 broad.mit.edu 37 21 47538527 47538527 + Splice_Site DEL G G - TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr21:47538527delG ENST00000300527.4 + 13 1220 c.e13-1 COL6A2_ENST00000357838.4_Splice_Site|COL6A2_ENST00000310645.5_Splice_Site|COL6A2_ENST00000409416.1_Splice_Site|COL6A2_ENST00000397763.1_Splice_Site NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) AACCCTTCCAGGGGGACCCTG 0.687 21 25 --- --- --- --- BIK 638 broad.mit.edu 37 22 43525245 43525247 + In_Frame_Del DEL GCT GCT - TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:43525245_43525247delGCT ENST00000216115.2 + 5 480_482 c.417_419delGCT c.(415-420)gcgctg>gcg p.L144del NM_001197.4 NP_001188.1 Q13323 BIK_HUMAN BCL2-interacting killer (apoptosis-inducing) 144 Leucine-zipper (Potential). apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria endomembrane system|integral to membrane breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1) 5 Ovarian(80;0.0694) tgctgctggcgctgctgctgctg 0.724 9 163 --- --- --- ---