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 TBC1D15 64786 broad.mit.edu 37 12 72312286 72312286 + Silent SNP C C T rs141790587 byFrequency TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:72312286C>T ENST00000550746.1 + 15 1672 c.1608C>T c.(1606-1608)ttC>ttT p.F536F TBC1D15_ENST00000393309.3_Silent_p.F290F|TBC1D15_ENST00000319106.8_Silent_p.F527F|TBC1D15_ENST00000485960.2_Silent_p.F519F NM_001146213.1|NM_022771.4 NP_001139685.2|NP_073608.4 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 536 Rab-GAP TBC. protein binding|Rab GTPase activator activity NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TAATCAGATTCAAAAGGGAAT 0.294000 27 92 0 0 0.183431 0 0 HPSE2 60495 broad.mit.edu 37 10 100249921 100249921 + Silent SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:100249921C>G ENST00000370552.3 - 10 1412 c.1353G>C c.(1351-1353)ctG>ctC p.L451L HPSE2_ENST00000370549.1_Silent_p.L393L|HPSE2_ENST00000370546.1_Silent_p.L451L|HPSE2_ENST00000404542.1_Silent_p.L339L NM_021828.4 NP_068600.4 Q8WWQ2 HPSE2_HUMAN heparanase 2 451 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 40 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) TGGGGCCGATCAGGCGCTTGT 0.557000 42 67 0 0 0.323286 0 0 SAMD7 344658 broad.mit.edu 37 3 169654187 169654187 + Nonsense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:169654187C>T ENST00000428432.2 + 8 1491 c.1102C>T c.(1102-1104)Cga>Tga p.R368* SAMD7_ENST00000335556.3_Nonsense_Mutation_p.R368* NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 368 SAM. NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) AGAGCATCTTCGAGGCACTAT 0.353000 15 91 0 0 0.204396 0 0 CAPG 822 broad.mit.edu 37 2 85625197 85625197 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:85625197C>T ENST00000263867.4 - 8 1087 c.838G>A c.(838-840)Gat>Aat p.D280N CAPG_ENST00000483659.1_5'UTR|CAPG_ENST00000409921.1_Missense_Mutation_p.D265N|CAPG_ENST00000409670.1_Missense_Mutation_p.D280N|CAPG_ENST00000409724.1_Missense_Mutation_p.D280N NM_001256140.1|NM_001747.3 NP_001243069.1|NP_001738.2 P40121 CAPG_HUMAN capping protein (actin filament), gelsolin-like 280 barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6) 11 AAGCAGTCATCAGATATCAGC 0.547000 19 133 0 0 0.323286 0 0 COL2A1 1280 broad.mit.edu 37 12 48375126 48375126 + Splice_Site SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:48375126C>T ENST00000380518.3 - 37 2627 c.2463G>A c.(2461-2463)ccG>ccA p.P821P COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Splice_Site_p.P752P NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 821 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) AGACACTCACCGGAGCGCCAC 0.662000 8 16 0 0 0.387290 0 0 MALAT1 378938 broad.mit.edu 37 11 65273165 65273165 + RNA SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:65273165G>T ENST00000534336.1 + 0 7933 NR_002819.2 TTGGTGGGTTGAACTATGTTA 0.428000 28 68 4.74835e-14 5.2073e-14 0.396831 1 0 MYB 4602 broad.mit.edu 37 6 135511379 135511379 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:135511379G>C ENST00000341911.5 + 5 620 c.421G>C c.(421-423)Gaa>Caa p.E141Q MYB_ENST00000534044.1_Missense_Mutation_p.E141Q|MYB_ENST00000533624.1_Missense_Mutation_p.E141Q|MYB_ENST00000525369.1_Missense_Mutation_p.E141Q|MYB_ENST00000420123.2_Missense_Mutation_p.E117Q|MYB_ENST00000527615.1_Missense_Mutation_p.E141Q|MYB_ENST00000442647.2_Missense_Mutation_p.E141Q|MYB_ENST00000534121.1_Missense_Mutation_p.E141Q|MYB_ENST00000316528.8_Missense_Mutation_p.E141Q|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000528774.1_Missense_Mutation_p.E141Q|MYB_ENST00000367814.4_Missense_Mutation_p.E141Q NM_001130173.1|NM_001161656.1|NM_001161658.1 NP_001123645.1|NP_001155128.1|NP_001155130.1 P10242 MYB_HUMAN v-myb avian myeloblastosis viral oncogene homolog 141 HTH myb-type 2.|Interaction with HIPK2 and NLK (By similarity). blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) CTTGAATCCAGAAGTTAAGAA 0.453000 T NFIB adenoid cystic carcinoma 9 53 0 0 0.335167 0 0 CDK3 1018 broad.mit.edu 37 17 73998125 73998125 + Missense_Mutation SNP G G C rs140567861 TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:73998125G>C ENST00000425876.2 + 3 305 c.217G>C c.(217-219)Gag>Cag p.E73Q CDK3_ENST00000448471.1_Missense_Mutation_p.E73Q|TEN1-CDK3_ENST00000567351.1_RNA Q00526 CDK3_HUMAN cyclin-dependent kinase 3 73 Protein kinase. cell division|cell proliferation|mitosis ATP binding|cyclin-dependent protein kinase activity p.E73K(1) central_nervous_system(1) 1 GGTGCACAACGAGAGGAAGCT 0.572000 14 68 0 0 0.175082 0 0 PPRC1 23082 broad.mit.edu 37 10 103906708 103906708 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:103906708G>C ENST00000278070.2 + 9 3998 c.3959G>C c.(3958-3960)cGa>cCa p.R1320P PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.R287P|PPRC1_ENST00000489648.1_Intron NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 1320 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GTGGGCTCCCGATGGAATGTC 0.607000 11 42 0 0 0.387290 0 0 MAGEB1 4112 broad.mit.edu 37 X 30269617 30269617 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrX:30269617C>G ENST00000378981.3 + 4 1328 c.1007C>G c.(1006-1008)tCt>tGt p.S336C MAGEB1_ENST00000397548.2_Missense_Mutation_p.S336C|MAGEB1_ENST00000397550.1_Missense_Mutation_p.S336C NM_002363.4 NP_002354.2 P43366 MAGB1_HUMAN melanoma antigen family B, 1 336 NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 32 AGAGCGCGTTCTAGAGCCCCA 0.507000 24 14 0 0 0.338820 0 0 CLASP1 23332 broad.mit.edu 37 2 122182786 122182786 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:122182786G>A ENST00000263710.4 - 22 2530 c.2141C>T c.(2140-2142)tCa>tTa p.S714L CLASP1_ENST00000545861.1_Missense_Mutation_p.S490L|CLASP1_ENST00000541377.1_Missense_Mutation_p.S721L|CLASP1_ENST00000455322.2_Missense_Mutation_p.S714L|CLASP1_ENST00000541859.1_Missense_Mutation_p.S483L|CLASP1_ENST00000409078.3_Missense_Mutation_p.S714L|CLASP1_ENST00000397587.3_Missense_Mutation_p.S722L NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 714 Interaction with microtubules, MAPRE1 and MAPRE3.|Ser-rich. axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) TCGCTTTTCTGAAGACGGTGT 0.512000 31 68 0 0 0.183431 0 0 CASP5 838 broad.mit.edu 37 11 104871143 104871143 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:104871143G>A ENST00000393141.2 - 6 867 c.836C>T c.(835-837)tCt>tTt p.S279F CASP5_ENST00000260315.3_Missense_Mutation_p.S266F|CASP5_ENST00000444749.2_Missense_Mutation_p.S208F|CASP5_ENST00000418434.1_Missense_Mutation_p.S124F|CASP5_ENST00000526056.1_Missense_Mutation_p.S279F|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000531367.1_Missense_Mutation_p.S124F NM_001136112.1|NM_004347.3 NP_001129584.1|NP_004338.3 P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase 266 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) GATGCCATGAGACATGAGTAC 0.463000 23 70 0 0 0.324025 0 0 UBA3 9039 broad.mit.edu 37 3 69124658 69124658 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:69124658G>C ENST00000361055.4 - 4 241 c.187C>G c.(187-189)Ctc>Gtc p.L63V UBA3_ENST00000415609.2_Intron|UBA3_ENST00000349511.4_Missense_Mutation_p.L49V|UBA3_ENST00000540295.1_Intron NM_003968.3 NP_003959.3 Q8TBC4 UBA3_HUMAN ubiquitin-like modifier activating enzyme 3 63 Interaction with UBE2M N-terminus. protein neddylation|proteolysis nucleus acid-amino acid ligase activity|ATP binding|protein heterodimerization activity endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241) AAGAACTGGAGAGACTGTAAA 0.343000 16 39 0 0 0.219247 0 0 KLHDC8B 200942 broad.mit.edu 37 3 49212384 49212384 + Missense_Mutation SNP T T G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:49212384T>G ENST00000332780.2 + 4 960 c.751T>G c.(751-753)Ttt>Gtt p.F251V KLHDC8B_ENST00000476495.2_3'UTR NM_173546.2 NP_775817.1 Q8IXV7 KLD8B_HUMAN kelch domain containing 8B 251 cytoplasm endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TGTGGAGATGTTTGACCTGGA 0.587000 12 82 0 0 0.132662 0 0 DLEC1 9940 broad.mit.edu 37 3 38136538 38136538 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:38136538C>A ENST00000308059.6 + 13 2109 c.2088C>A c.(2086-2088)ttC>ttA p.F696L DLEC1_ENST00000346219.3_Missense_Mutation_p.F696L|DLEC1_ENST00000452631.2_Missense_Mutation_p.F696L Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 696 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) ACCACGAGTTCATCCTGAGCT 0.517000 15 61 7.92952e-12 8.53726e-12 0.294199 1 0 MLLT4-AS1 653483 broad.mit.edu 37 6 168226338 168226338 + RNA SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:168226338C>T ENST00000359760.5 - 0 1051 NR_027906.1 GAGCGCGGTTCAGAAAACATG 0.552000 18 37 0 0 0.249174 0 0 FAM195A 84331 broad.mit.edu 37 16 697532 697532 + Missense_Mutation SNP T T A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:697532T>A ENST00000307650.4 + 3 477 c.298T>A c.(298-300)Ttt>Att p.F100I NM_138418.2 NP_612427.2 Q9BUT9 F195A_HUMAN family with sequence similarity 195, member A 100 haematopoietic_and_lymphoid_tissue(1)|kidney(1) 2 GAATGTCCGCTTTGTGTCCGA 0.637000 7 23 0 0 0.335167 0 0 KIAA2018 205717 broad.mit.edu 37 3 113376375 113376375 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:113376375G>A ENST00000316407.4 - 7 4564 c.4154C>T c.(4153-4155)tCa>tTa p.S1385L KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.S1385L NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 1385 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 AGGCACAACTGAGTTTGAAGA 0.448000 13 53 0 0 0.119110 0 0 SLC14A2 8170 broad.mit.edu 37 18 43216988 43216988 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr18:43216988C>T ENST00000255226.6 + 6 1500 c.684C>T c.(682-684)ttC>ttT p.F228F SLC14A2_ENST00000586448.1_Silent_p.F228F NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 228 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ATTCCATCTTCAGCAAGTGGG 0.512000 107 236 0 0 0.323286 0 0 PRUNE2 158471 broad.mit.edu 37 9 79318656 79318656 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr9:79318656C>T ENST00000428286.1 - 9 7996 c.6796G>A c.(6796-6798)Gaa>Aaa p.E2266K PRUNE2_ENST00000376718.3_Missense_Mutation_p.E2625K Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2625 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GCAGGGCTTTCAAAAGATGAT 0.493000 3 9 0 0 0.115264 0 0 CHIT1 1118 broad.mit.edu 37 1 203192738 203192738 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:203192738G>C ENST00000367229.1 - 5 399 c.365C>G c.(364-366)tCg>tGg p.S122W CHIT1_ENST00000255427.3_Missense_Mutation_p.S103W|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.S113W NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 122 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 CCTGATGGCCGAGTTGACAAA 0.577000 22 180 0 0 0.324025 0 0 KRT80 144501 broad.mit.edu 37 12 52574306 52574306 + Silent SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:52574306G>T ENST00000313234.5 - 4 754 c.657C>A c.(655-657)atC>atA p.I219I KRT80_ENST00000394815.2_Silent_p.I219I NM_001081492.1 NP_001074961.1 Q6KB66 K2C80_HUMAN keratin 80 219 Coil 1B.|Rod. keratin filament structural molecule activity endometrium(2)|large_intestine(2)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.108) CCTGCTCATAGATGGTTTTCA 0.552000 36 158 4.67007e-22 5.36058e-22 0.268233 1 0 MUC16 94025 broad.mit.edu 37 19 9062870 9062870 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:9062870C>G ENST00000397910.4 - 3 24779 c.24576G>C c.(24574-24576)atG>atC p.M8192I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8194 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGATTCTGTCATTATGCTGG 0.483000 13 31 0 0 0.093190 0 0 CAPG 822 broad.mit.edu 37 2 85622055 85622055 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:85622055C>A ENST00000263867.4 - 10 1257 c.1008G>T c.(1006-1008)gaG>gaT p.E336D CAPG_ENST00000409921.1_Missense_Mutation_p.E321D|CAPG_ENST00000409670.1_Missense_Mutation_p.E336D|CAPG_ENST00000409724.1_Missense_Mutation_p.E336D NM_001256140.1|NM_001747.3 NP_001243069.1|NP_001738.2 P40121 CAPG_HUMAN capping protein (actin filament), gelsolin-like 336 barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6) 11 AGATGGGACTCTCATGGCCCT 0.597000 14 46 0.000132079 0.000136235 0.204396 1 0 BPIFA2 140683 broad.mit.edu 37 20 31767433 31767433 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr20:31767433C>A ENST00000253362.2 + 7 815 c.669C>A c.(667-669)ttC>ttA p.F223L BPIFA2_ENST00000354932.5_Missense_Mutation_p.F223L Q96DR5 SPLC2_HUMAN BPI fold containing family A, member 2 223 extracellular region lipid binding TCCGCATCTTCATCCACTCCC 0.527000 60 147 5.02048e-33 5.86551e-33 0.323286 1 0 CAPG 822 broad.mit.edu 37 2 85622017 85622017 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:85622017C>T ENST00000263867.4 - 10 1295 c.1046G>A c.(1045-1047)tGa>tAa p.*349* CAPG_ENST00000409921.1_Silent_p.*334*|CAPG_ENST00000409670.1_Silent_p.*349*|CAPG_ENST00000409724.1_Silent_p.*349* NM_001256140.1|NM_001747.3 NP_001243069.1|NP_001738.2 P40121 CAPG_HUMAN capping protein (actin filament), gelsolin-like 0 barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6) 11 CGCCCACCCTCATTTCCAGTC 0.592000 17 48 0 0 0.234183 0 0 APBB3 10307 broad.mit.edu 37 5 139941016 139941016 + Nonsense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:139941016C>A ENST00000357560.4 - 9 1209 c.766G>T c.(766-768)Gag>Tag p.E256* APBB3_ENST00000508496.2_Nonsense_Mutation_p.E33*|APBB3_ENST00000354402.5_Nonsense_Mutation_p.E263*|APBB3_ENST00000511201.2_Nonsense_Mutation_p.E254*|APBB3_ENST00000356738.2_Nonsense_Mutation_p.E261*|APBB3_ENST00000412920.3_Nonsense_Mutation_p.E254*|APBB3_ENST00000358580.5_Nonsense_Mutation_p.E256* NM_006051.3|NM_133173.2 NP_006042.3|NP_573419.2 O95704 APBB3_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 3 256 PID 1. actin cytoskeleton|cytoplasm endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCACTGACCTCTACTCGCTCT 0.547000 23 141 8.24728e-16 9.16365e-16 0.309145 1 0 ZZEF1 23140 broad.mit.edu 37 17 3984727 3984727 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:3984727C>T ENST00000381638.2 - 18 2896 c.2772G>A c.(2770-2772)atG>atA p.M924I ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 924 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 CACTGATGTTCATCTTGGCCA 0.498000 44 50 0 0 0.323286 0 0 MSTN 2660 broad.mit.edu 37 2 190926953 190926953 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:190926953C>G ENST00000260950.4 - 1 502 c.370G>C c.(370-372)Gag>Cag p.E124Q C2orf88_ENST00000478197.1_Intron NM_005259.2 NP_005250.1 O14793 GDF8_HUMAN myostatin 124 muscle organ development|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395) TACTTACACTCTGTAGGCATG 0.403000 44 218 0 0 0.323286 0 0 DMXL2 23312 broad.mit.edu 37 15 51758463 51758463 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:51758463C>T ENST00000251076.5 - 30 7722 c.7435G>A c.(7435-7437)Gaa>Aaa p.E2479K RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.E1843K|DMXL2_ENST00000543779.2_Missense_Mutation_p.E2480K NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2479 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TGAATGCTTTCATCAGAATCA 0.284000 37 68 0 0 0.323286 0 0 MYH3 4621 broad.mit.edu 37 17 10539067 10539067 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:10539067C>T ENST00000583535.1 - 29 4047 c.3960G>A c.(3958-3960)ctG>ctA p.L1320L MYH3_ENST00000226209.7_Silent_p.L1320L NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1320 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TCTCTTCCTCCAGCTGCCTCT 0.423000 51 78 0 0 0.323286 0 0 SEC14L3 266629 broad.mit.edu 37 22 30860840 30860840 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr22:30860840C>T ENST00000403066.1 - 9 737 c.454G>A c.(454-456)Gag>Aag p.E152K SEC14L3_ENST00000539629.1_Missense_Mutation_p.E152K|SEC14L3_ENST00000401751.1_Missense_Mutation_p.E152K|SEC14L3_ENST00000402286.1_Missense_Mutation_p.E134K|SEC14L3_ENST00000540910.1_Missense_Mutation_p.E134K|SEC14L3_ENST00000215812.4_Missense_Mutation_p.E211K|SEC14L3_ENST00000415957.2_Missense_Mutation_p.E152K Q9UDX4 S14L3_HUMAN SEC14-like 3 (S. cerevisiae) 211 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) CGAGTGTCCTCACTCAGGAAT 0.448000 60 121 0 0 0.323286 0 0 MLYCD 23417 broad.mit.edu 37 16 83948929 83948929 + Silent SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:83948929G>T ENST00000262430.4 + 5 1336 c.1317G>T c.(1315-1317)gtG>gtT p.V439V RP11-505K9.4_ENST00000566309.1_Intron|RP11-505K9.4_ENST00000561562.1_Intron NM_012213.2 NP_036345.2 O95822 DCMC_HUMAN malonyl-CoA decarboxylase 439 acyl-CoA metabolic process|fatty acid biosynthetic process mitochondrion|peroxisome malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 TGGCGGATGTGAGCCTCAGAG 0.637000 121 71 1.799e-87 2.11436e-87 0.323286 1 0 NSDHL 50814 broad.mit.edu 37 X 152014895 152014895 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrX:152014895G>A ENST00000370274.3 + 2 221 c.27G>A c.(25-27)atG>atA p.M9I NSDHL_ENST00000440023.1_Missense_Mutation_p.M9I NM_015922.2 NP_057006.1 Q15738 NSDHL_HUMAN NAD(P) dependent steroid dehydrogenase-like 9 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5) 15 Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) GCGAGCCAATGAGAGACCAAG 0.408000 31 33 0 0 0.279185 0 0 ABCA6 23460 broad.mit.edu 37 17 67132242 67132242 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:67132242C>G ENST00000284425.2 - 4 625 c.451G>C c.(451-453)Gat>Cat p.D151H ABCA6_ENST00000590645.1_Missense_Mutation_p.D151H NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 151 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) CCTGAGAAATCTTCTTTCCAA 0.323000 5 31 0 0 0.217242 0 0 ZZZ3 26009 broad.mit.edu 37 1 78034131 78034131 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:78034131G>C ENST00000370801.3 - 13 2827 c.2352C>G c.(2350-2352)atC>atG p.I784M ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.I290M NM_015534.4 NP_056349.1 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 784 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2) 39 TCCTATACATGATAGGAATAC 0.269000 12 11 0 0 0.387290 0 0 PTK7 5754 broad.mit.edu 37 6 43096807 43096807 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:43096807C>G ENST00000230419.4 + 2 393 c.172C>G c.(172-174)Ccg>Gcg p.P58A PTK7_ENST00000345201.2_Missense_Mutation_p.P58A|PTK7_ENST00000349241.2_Missense_Mutation_p.P58A|PTK7_ENST00000352931.2_Missense_Mutation_p.P58A|PTK7_ENST00000476760.1_Missense_Mutation_p.P58A|PTK7_ENST00000481273.1_Missense_Mutation_p.P66A|PTK7_ENST00000471863.1_Missense_Mutation_p.P58A NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 58 Ig-like C2-type 1. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) GGTTGAGGCTCCGGGCCCGGT 0.642000 11 16 0 0 0.146539 0 0 AKAP13 11214 broad.mit.edu 37 15 86064775 86064775 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:86064775C>T ENST00000394518.2 + 3 245 c.150C>T c.(148-150)gtC>gtT p.V50V AKAP13_ENST00000560302.1_Silent_p.V50V|AKAP13_ENST00000361243.2_Silent_p.V50V NM_001270546.1|NM_007200.4 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 50 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 CTCGGAAGGTCAGTTCTGATA 0.418000 17 103 0 0 0.204396 0 0 RNF10 9921 broad.mit.edu 37 12 121001720 121001720 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:121001720G>C ENST00000325954.4 + 10 2100 c.1639G>C c.(1639-1641)Gag>Cag p.E547Q RNF10_ENST00000413266.2_Missense_Mutation_p.E552Q NM_014868.4 NP_055683.3 Q8N5U6 RNF10_HUMAN ring finger protein 10 547 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AACTGTGGTGGAGATTGCTGG 0.552000 19 153 0 0 0.309145 0 0 SMAD3 4088 broad.mit.edu 37 15 67457371 67457371 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:67457371G>A ENST00000327367.4 + 2 655 c.345G>A c.(343-345)atG>atA p.M115I SMAD3_ENST00000540846.2_Missense_Mutation_p.M10I|SMAD3_ENST00000439724.3_Missense_Mutation_p.M71I|SMAD3_ENST00000559092.1_Silent_p.*97* NM_005902.3 NP_005893.1 P84022 SMAD3_HUMAN SMAD family member 3 115 MH1. 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) CCTTCAATATGAAGAAGGACG 0.602000 15 99 0 0 0.189662 0 0 ZNF777 27153 broad.mit.edu 37 7 149129883 149129883 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:149129883C>G ENST00000247930.4 - 6 1803 c.1480G>C c.(1480-1482)Gag>Cag p.E494Q NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 494 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GGGGACATCTCCCCGGGCAGC 0.662000 7 27 0 0 0.307466 0 0 THAP11 57215 broad.mit.edu 37 16 67876898 67876898 + Silent SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:67876898G>T ENST00000303596.1 + 1 686 c.441G>T c.(439-441)ccG>ccT p.P147P CENPT_ENST00000562787.1_Intron NM_020457.2 NP_065190.2 Q96EK4 THA11_HUMAN THAP domain containing 11 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|identical protein binding|metal ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1) 8 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) AGCTGCAGCCGAACCTGGTAT 0.642000 35 182 2.56175e-15 2.8357e-15 0.323286 1 0 GABARAPL3 23766 broad.mit.edu 37 15 90892117 90892117 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:90892117G>T ENST00000412799.2 - 1 552 c.313C>A c.(313-315)Ctg>Atg p.L105M GCCACATACAGAAAATCATCT 0.493000 14 32 7.81268e-19 8.83042e-19 0.160694 1 0 BCAN 63827 broad.mit.edu 37 1 156617355 156617355 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:156617355G>A ENST00000329117.5 + 4 858 c.522G>A c.(520-522)ggG>ggA p.G174G RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Silent_p.G174G NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican Link 1. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCTTTTCTGGGGCCCAGGAGG 0.642000 13 35 0 0 0.146539 0 0 CAPG 822 broad.mit.edu 37 2 85625194 85625194 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:85625194C>T ENST00000263867.4 - 8 1090 c.841G>A c.(841-843)Gac>Aac p.D281N CAPG_ENST00000483659.1_5'UTR|CAPG_ENST00000409921.1_Missense_Mutation_p.D266N|CAPG_ENST00000409670.1_Missense_Mutation_p.D281N|CAPG_ENST00000409724.1_Missense_Mutation_p.D281N NM_001256140.1|NM_001747.3 NP_001243069.1|NP_001738.2 P40121 CAPG_HUMAN capping protein (actin filament), gelsolin-like 281 barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6) 11 ACAAAGCAGTCATCAGATATC 0.547000 23 129 0 0 0.323286 0 0 TMEM89 440955 broad.mit.edu 37 3 48658340 48658340 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:48658340G>T ENST00000330862.3 - 2 513 c.415C>A c.(415-417)Cac>Aac p.H139N NM_001008269.1 NP_001008270.1 A2RUT3 TMM89_HUMAN transmembrane protein 89 139 integral to membrane breast(1)|lung(1)|stomach(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) TGACGTAGGTGGCCTTCGATG 0.612000 35 86 4.65686e-17 5.19386e-17 0.193644 1 0 ZNF479 90827 broad.mit.edu 37 7 57188109 57188109 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:57188109G>A ENST00000331162.4 - 5 1283 c.1013C>T c.(1012-1014)tCa>tTa p.S338L NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 338 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) AGTAAGGTTTGAGGACCAGCT 0.453000 10 42 0 0 0.146539 0 0 RXRG 6258 broad.mit.edu 37 1 165370572 165370572 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:165370572G>C ENST00000359842.5 - 10 1622 c.1320C>G c.(1318-1320)ttC>ttG p.F440L NM_001256570.1|NM_006917.4 NP_001243499.1|NP_008848.1 P48443 RXRG_HUMAN retinoid X receptor, gamma 440 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) CGATGAGCTTGAAGAAGAAGA 0.597000 49 98 0 0 0.323286 0 0 ADAT1 23536 broad.mit.edu 37 16 75642774 75642774 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:75642774C>G ENST00000307921.3 - 8 1301 c.1156G>C c.(1156-1158)Gat>Cat p.D386H NM_012091.3 NP_036223.2 Q9BUB4 ADAT1_HUMAN adenosine deaminase, tRNA-specific 1 386 A to I editase. tRNA processing metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1) 19 CCTGGGCTATCAGCCCTTTTT 0.512000 23 57 0 0 0.324025 0 0 TNRC6B 23112 broad.mit.edu 37 22 40661039 40661039 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr22:40661039C>G ENST00000454349.2 + 5 1016 c.805C>G c.(805-807)Caa>Gaa p.Q269E TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.Q269E NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 269 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 TAAATCTGTTCAATCTTCCAA 0.453000 8 64 0 0 0.278610 0 0 ASPRV1 151516 broad.mit.edu 37 2 70188511 70188511 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:70188511C>G ENST00000320256.4 - 1 886 c.310G>C c.(310-312)Gaa>Caa p.E104Q NM_152792.2 NP_690005.2 Q53RT3 APRV1_HUMAN aspartic peptidase, retroviral-like 1 104 protein maturation by peptide bond cleavage|skin development aspartic-type endopeptidase activity endometrium(3)|large_intestine(4)|lung(6)|ovary(1) 14 TCAAAAGGTTCCGGGACGAAG 0.582000 22 66 0 0 0.294199 0 0 GREB1 9687 broad.mit.edu 37 2 11728988 11728988 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:11728988G>A ENST00000381486.2 + 10 1576 c.1276G>A c.(1276-1278)Gcc>Acc p.A426T GREB1_ENST00000234142.5_Missense_Mutation_p.A426T|GREB1_ENST00000381483.2_Missense_Mutation_p.A426T NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 426 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GCAGTACGGCGCCTCTGCCAT 0.597000 57 111 0 0 0.323286 0 0 GH1 2688 broad.mit.edu 37 17 61994708 61994708 + Silent SNP G G A rs148474991 TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:61994708G>A ENST00000323322.5 - 5 657 c.615C>T c.(613-615)atC>atT p.I205I GH1_ENST00000351388.4_Silent_p.I165I|GH1_ENST00000342364.4_Silent_p.I110I|GH1_ENST00000458650.2_Silent_p.I190I|CSHL1_ENST00000392824.4_Intron NM_000515.3 NP_000506.2 P01241 SOMA_HUMAN growth hormone 1 205 I -> M (in short stature; idiopathic autosomal). glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus extracellular space growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding p.I205M(1) breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 19 GGCACTGCACGATGCGCAGGA 0.592000 25 61 0 0 0.368089 0 0 LRRC57 255252 broad.mit.edu 37 15 42839461 42839461 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:42839461G>C ENST00000323443.2 - 3 857 c.490C>G c.(490-492)Cag>Gag p.Q164E LRRC57_ENST00000397130.3_Missense_Mutation_p.Q164E|LRRC57_ENST00000563454.1_Missense_Mutation_p.Q164E Q8N9N7 LRC57_HUMAN leucine rich repeat containing 57 164 breast(1)|kidney(1)|lung(5)|prostate(1) 8 all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262) GBM - Glioblastoma multiforme(94;6.87e-07) CTCTAGACCTGATTCTGGTTG 0.443000 9 59 0 0 0.387290 0 0 PITPNM3 83394 broad.mit.edu 37 17 6374547 6374547 + Nonsense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:6374547C>A ENST00000262483.8 - 12 1645 c.1558G>T c.(1558-1560)Gag>Tag p.E520* PITPNM3_ENST00000421306.3_Nonsense_Mutation_p.E484*|PITPNM3_ENST00000576664.1_5'UTR NM_031220.3 NP_112497.2 Q9BZ71 PITM3_HUMAN PITPNM family member 3 DDHD. phosphatidylinositol metabolic process endomembrane system|integral to membrane calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2) 36 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) GAGCTCCCCTCGCTCATCCTC 0.687000 7 18 0.00448238 0.00459133 0.307466 1 0 CENPF 1063 broad.mit.edu 37 1 214815002 214815002 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:214815002G>A ENST00000366955.3 + 12 3489 c.3321G>A c.(3319-3321)caG>caA p.Q1107Q NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 1107 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AGACAGTGCAGCAAGCTCTGA 0.373000 3 115 0 0 0.184627 0 0 GMFB 2764 broad.mit.edu 37 14 54950455 54950455 + Nonsense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:54950455C>A ENST00000554908.1 - 2 131 c.34G>T c.(34-36)Gaa>Taa p.E12* GMFB_ENST00000553566.1_5'UTR|GMFB_ENST00000358056.3_Nonsense_Mutation_p.E12* P60983 GMFB_HUMAN glia maturation factor, beta 12 ADF-H. nervous system development|protein phosphorylation intracellular actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity|signal transducer activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1) 8 ACTAAATCTTCGGCAACATCA 0.338000 11 29 3.32936e-07 3.49523e-07 0.175082 1 0 FAM199X 139231 broad.mit.edu 37 X 103411483 103411483 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrX:103411483C>T ENST00000493442.1 + 1 183 c.17C>T c.(16-18)tCg>tTg p.S6L NM_207318.3 NP_997201.1 Q6PEV8 F199X_HUMAN family with sequence similarity 199, X-linked 6 breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1) 11 GACGAGGCCTCGGCCATCACT 0.701000 5 1 0 0 0.217242 0 0 RBPMS2 348093 broad.mit.edu 37 15 65040670 65040670 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:65040670G>A ENST00000300069.4 - 6 782 c.515C>T c.(514-516)gCt>gTt p.A172V RBPMS2_ENST00000560606.1_Missense_Mutation_p.A61V NM_194272.1 NP_919248.1 Q6ZRY4 RBPS2_HUMAN RNA binding protein with multiple splicing 2 172 nucleic acid binding|nucleotide binding breast(1)|large_intestine(3)|lung(3)|prostate(1) 8 GGTGAACGCAGCATGGGAGAT 0.622000 24 51 0 0 0.353513 0 0 TRIB3 57761 broad.mit.edu 37 20 376874 376874 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr20:376874C>T ENST00000217233.3 + 4 1170 c.617C>T c.(616-618)tCc>tTc p.S206F TRIB3_ENST00000422053.2_Missense_Mutation_p.S233F NM_021158.3 NP_066981.2 Q96RU7 TRIB3_HUMAN tribbles pseudokinase 3 206 Protein kinase. apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1) 21 all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231) Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112) CTGGAGGACTCCTGCGTGCTG 0.607000 12 57 0 0 0.119110 0 0 ATP2B4 493 broad.mit.edu 37 1 203680026 203680026 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:203680026G>A ENST00000357681.5 + 12 2944 c.1821G>A c.(1819-1821)cgG>cgA p.R607R ATP2B4_ENST00000341360.2_Silent_p.R607R|ATP2B4_ENST00000367219.3_Silent_p.R595R|ATP2B4_ENST00000391954.2_Silent_p.R607R|ATP2B4_ENST00000367218.3_Silent_p.R607R NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 607 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) TCCTGGACCGGAAAGGGGAAG 0.502000 15 24 0 0 0.132662 0 0 DENND6A 201627 broad.mit.edu 37 3 57649368 57649368 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:57649368G>C ENST00000311128.5 - 5 578 c.508C>G c.(508-510)Cag>Gag p.Q170E NM_152678.2 NP_689891.1 DENN/MADD domain containing 6A ATTACCTTCTGAAAGTAGCCT 0.289000 25 68 0 0 0.183431 0 0 FOXI2 399823 broad.mit.edu 37 10 129537070 129537070 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:129537070G>A ENST00000388920.4 + 2 837 c.798G>A c.(796-798)ctG>ctA p.L266L NM_207426.2 NP_997309.2 Q6ZQN5 FOXI2_HUMAN forkhead box I2 266 epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity 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 large_intestine(1)|lung(3) 4 all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222) CCGGGGGCCTGGCGGGCGACT 0.701000 4 3 0 0 0.217242 0 0 TOP2A 7153 broad.mit.edu 37 17 38569453 38569453 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:38569453G>C ENST00000423485.1 - 6 728 c.570C>G c.(568-570)ttC>ttG p.F190L NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 190 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding p.F190L(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) TTGCCTGTTTGAACATTTTCT 0.328000 2 5 0 0 0.115264 0 0 ULK1 8408 broad.mit.edu 37 12 132404537 132404537 + Silent SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:132404537G>C ENST00000321867.4 + 26 3168 c.2817G>C c.(2815-2817)ctG>ctC p.L939L ULK1_ENST00000540647.1_Silent_p.L184L NM_003565.2 NP_003556 O75385 ULK1_HUMAN unc-51 like autophagy activating kinase 1 939 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) TGCGCAGGCTGAATGAGCTGT 0.647000 9 48 0 0 0.387290 0 0 DACH1 1602 broad.mit.edu 37 13 72053449 72053449 + Splice_Site SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr13:72053449C>T ENST00000305425.4 - 8 2151 c.e8-1 DACH1_ENST00000354591.4_Splice_Site|DACH1_ENST00000313174.7_Splice_Site|DACH1_ENST00000359684.2_Splice_Site NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding p.?(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) TCAACAGCCCCTGTACAAAGA 0.358000 26 109 0 0 0.193644 0 0 OR5M8 219484 broad.mit.edu 37 11 56258214 56258214 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:56258214G>A ENST00000327216.2 - 1 657 c.633C>T c.(631-633)ttC>ttT p.F211F NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) TACATATGATGAAGAGAGAAA 0.433000 8 69 0 0 0.307466 0 0 CC2D1B 200014 broad.mit.edu 37 1 52824767 52824767 + Missense_Mutation SNP C C G rs144724390 byFrequency TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:52824767C>G ENST00000371586.2 - 11 1327 c.1189G>C c.(1189-1191)Gag>Cag p.E397Q CC2D1B_ENST00000284376.3_Missense_Mutation_p.E397Q|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000438831.1_5'UTR NM_032449.2 NP_115825.1 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B 397 breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 27 ATGCCCGCCTCGCGGTACTTG 0.632000 8 37 0 0 0.335167 0 0 ZZEF1 23140 broad.mit.edu 37 17 4045961 4045961 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:4045961G>A ENST00000381638.2 - 1 353 c.229C>T c.(229-231)Cgc>Tgc p.R77C ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 77 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 AACGCGCCGCGATGCCTCGAC 0.721000 8 11 0 0 0.361761 0 0 GANAB 23193 broad.mit.edu 37 11 62398117 62398117 + Nonsense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:62398117G>A ENST00000346178.4 - 12 1423 c.1408C>T c.(1408-1410)Cag>Tag p.Q470* GANAB_ENST00000540933.1_Nonsense_Mutation_p.Q351*|GANAB_ENST00000356638.3_Nonsense_Mutation_p.Q448*|GANAB_ENST00000534779.1_Nonsense_Mutation_p.Q356* NM_001278192.1|NM_198335.2 NP_001265121.1|NP_938149.2 Q14697 GANAB_HUMAN glucosidase, alpha; neutral AB 448 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 GTGCGGGGCTGAGGGAAGCGA 0.547000 11 58 0 0 0.105934 0 0 GSTM5 2949 broad.mit.edu 37 1 110257876 110257876 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:110257876C>T ENST00000369813.1 + 5 1363 c.458C>T c.(457-459)tCc>tTc p.S153F GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000369812.5_Intron|GSTM5_ENST00000256593.3_Intron P46439 GSTM5_HUMAN glutathione S-transferase mu 5 0 GST C-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 21 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) ATGCCCCCATCCTCCTTTCTC 0.473000 28 36 0 0 0.338820 0 0 CCT6P3 643180 broad.mit.edu 37 7 64530046 64530046 + RNA SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:64530046C>G ENST00000426828.1 + 0 866 NR_033416.1 CAGGCTGACTCTTGCTTGTGG 0.398000 4 34 0 0 0.248553 0 0 SLC6A15 55117 broad.mit.edu 37 12 85264443 85264443 + Nonsense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:85264443G>A ENST00000266682.5 - 9 1850 c.1309C>T c.(1309-1311)Cag>Tag p.Q437* SLC6A15_ENST00000552192.1_Nonsense_Mutation_p.Q330*|SLC6A15_ENST00000309283.7_Nonsense_Mutation_p.Q145* NM_182767.5 NP_877499.1 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 437 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 CCGGTCCCCTGAACAGCCTGC 0.398000 18 49 0 0 0.189662 0 0 PPRC1 23082 broad.mit.edu 37 10 103908426 103908426 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:103908426G>C ENST00000278070.2 + 11 4631 c.4592G>C c.(4591-4593)aGa>aCa p.R1531T PPRC1_ENST00000413464.2_Missense_Mutation_p.R1267T|PPRC1_ENST00000370012.1_Missense_Mutation_p.R498T|PPRC1_ENST00000489648.1_3'UTR NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 1531 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) CAAAGGCAAAGAGTGCTACAA 0.493000 41 104 0 0 0.323286 0 0 MALAT1 378938 broad.mit.edu 37 11 65272679 65272679 + RNA SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:65272679G>T ENST00000534336.1 + 0 7447 NR_002819.2 TAAAGGCACCGAAGGCTTAAA 0.502000 9 16 0.000442599 0.000455731 0.335167 1 0 FAN1 22909 broad.mit.edu 37 15 31197525 31197525 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:31197525C>G ENST00000362065.4 + 2 950 c.659C>G c.(658-660)tCt>tGt p.S220C FAN1_ENST00000565466.1_Missense_Mutation_p.S220C|FAN1_ENST00000561594.1_Missense_Mutation_p.S220C|FAN1_ENST00000561607.1_Missense_Mutation_p.S220C NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 220 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 AAATGTGATTCTCTAAAGGAA 0.393000 Direct reversal of damage 20 38 0 0 0.219247 0 0 MUC17 140453 broad.mit.edu 37 7 100679868 100679868 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:100679868C>G ENST00000306151.4 + 3 5235 c.5171C>G c.(5170-5172)tCt>tGt p.S1724C NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1724 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GTGACCACTTCTACTGAAGCC 0.478000 79 512 0 0 0.323286 0 0 INPP5E 56623 broad.mit.edu 37 9 139326391 139326391 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr9:139326391G>A ENST00000371712.3 - 7 1836 c.1434C>T c.(1432-1434)ttC>ttT p.F478F NM_019892.4 NP_063945.2 Q9NRR6 INP5E_HUMAN inositol polyphosphate-5-phosphatase, 72 kDa 478 cilium axoneme|cytoskeleton|Golgi cisterna membrane inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity NS(1)|endometrium(1)|lung(4)|skin(3) 9 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05) GGCGGAAGTTGAAGTCTCCAA 0.667000 22 23 0 0 0.368089 0 0 PRICKLE3 4007 broad.mit.edu 37 X 49040246 49040246 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrX:49040246C>G ENST00000376317.3 - 3 347 c.253G>C c.(253-255)Gac>Cac p.D85H PRICKLE3_ENST00000536904.1_Missense_Mutation_p.D17H|PRICKLE3_ENST00000376310.3_Missense_Mutation_p.D85H|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.D17H|PRICKLE3_ENST00000538114.1_Missense_Mutation_p.D85H NM_006150.3 NP_006141.2 O43900 PRIC3_HUMAN prickle homolog 3 (Drosophila) 85 PET. protein binding|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2) 22 CAGCCTGAGTCGTCGTCGGAG 0.642000 30 15 0 0 0.235728 0 0 GAD1 2571 broad.mit.edu 37 2 171702544 171702544 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:171702544G>C ENST00000358196.3 + 10 1523 c.973G>C c.(973-975)Gag>Cag p.E325Q NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 325 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AGCTGATTTTGAGGCAAAAAT 0.363000 22 105 0 0 0.324025 0 0 EML3 256364 broad.mit.edu 37 11 62378418 62378418 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:62378418G>A ENST00000394773.2 - 4 806 c.499C>T c.(499-501)Cgg>Tgg p.R167W EML3_ENST00000529309.1_Missense_Mutation_p.R167W|EML3_ENST00000531557.1_5'UTR|EML3_ENST00000494176.2_Missense_Mutation_p.R139W|EML3_ENST00000278845.4_Missense_Mutation_p.R168W NM_153265.2 NP_694997.2 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 3 167 cytoplasm|microtubule protein binding biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 AGCTTCTGCCGAGGCCGCTCT 0.612000 12 74 0 0 0.132662 0 0 ABCC9 10060 broad.mit.edu 37 12 21958120 21958120 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:21958120C>T ENST00000261201.4 - 38 4637 c.4638G>A c.(4636-4638)atG>atA p.M1546I ABCC9_ENST00000261200.4_Intron|ABCC9_ENST00000345162.2_Missense_Mutation_p.M1510I NM_005691.2 NP_005682.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1546 ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity p.M1546I(1) NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ACTTGTTGGTCATCACCAAAG 0.438000 16 62 0 0 0.219247 0 0 MPP6 51678 broad.mit.edu 37 7 24705264 24705264 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:24705264G>C ENST00000222644.5 + 7 1091 c.841G>C c.(841-843)Gag>Cag p.E281Q MPP6_ENST00000396475.2_Missense_Mutation_p.E281Q|MPP6_ENST00000409761.1_Missense_Mutation_p.E169Q Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) SH3. protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 GTTCCTGGAAGAGAAGAGAAA 0.423000 12 64 0 0 0.132662 0 0 TERF2IP 54386 broad.mit.edu 37 16 75681873 75681873 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:75681873C>G ENST00000300086.4 + 1 190 c.93C>G c.(91-93)ttC>ttG p.F31L NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein 31 negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 CCATGTCCTTCTACGTGCGGC 0.682000 12 52 0 0 0.105934 0 0 AGRP 181 broad.mit.edu 37 16 67517183 67517183 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:67517183G>C ENST00000290953.2 - 2 418 c.119C>G c.(118-120)cCa>cGa p.P40R RP11-297D21.4_ENST00000602596.1_RNA NM_001138.1 NP_001129.1 O00253 AGRP_HUMAN agouti related protein homolog (mouse) 40 hormone-mediated signaling pathway|neuropeptide signaling pathway|regulation of feeding behavior extracellular space|Golgi lumen neuropeptide hormone activity endometrium(1) 1 Acute lymphoblastic leukemia(13;0.00263)|all_hematologic(13;0.0274)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0717)|Epithelial(162;0.16) TGGGAGCTCTGGGAGCAGGGC 0.637000 3 4 0 0 0.115264 0 0 MALAT1 378938 broad.mit.edu 37 11 65272325 65272325 + RNA SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:65272325G>T ENST00000534336.1 + 0 7093 NR_002819.2 CGAAGGGCCAGAGAAGCCAGA 0.413000 7 48 0.0381472 0.0386053 0.278610 1 0 PLEKHA8 84725 broad.mit.edu 37 7 30102287 30102287 + Splice_Site SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:30102287G>C ENST00000449726.1 + 12 1579 c.e12-1 PLEKHA8_ENST00000258679.7_Splice_Site|PLEKHA8_ENST00000396257.2_Splice_Site|PLEKHA8_ENST00000396259.1_Splice_Site NM_001197027.1 NP_001183956.1 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 17 TTTTGTTTTAGAGGTCTCAAA 0.328000 11 39 0 0 0.093190 0 0 DOPEY2 9980 broad.mit.edu 37 21 37603182 37603182 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr21:37603182C>G ENST00000399151.3 + 14 2185 c.2100C>G c.(2098-2100)ttC>ttG p.F700L NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 700 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CAGACTTGTTCACAGCACGAG 0.542000 8 81 0 0 0.307466 0 0 PLEKHM1 9842 broad.mit.edu 37 17 43522898 43522898 + Silent SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:43522898C>G ENST00000430334.3 - 9 2908 c.2775G>C c.(2773-2775)ctG>ctC p.L925L PLEKHM1_ENST00000421073.2_Silent_p.L836L|PLEKHM1_ENST00000580404.1_5'UTR NM_014798.2 NP_055613.1 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 1 925 intracellular signal transduction cytoplasm metal ion binding breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Renal(3;0.0405) CCAGGAGCTTCAGCTGCTCCC 0.607000 17 57 0 0 0.175082 0 0 IRF2BP1 26145 broad.mit.edu 37 19 46387865 46387865 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:46387865C>T ENST00000302165.3 - 1 1511 c.1168G>A c.(1168-1170)Gag>Aag p.E390K NM_015649.1 NP_056464.1 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 1 390 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(1)|kidney(1)|lung(2) 4 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) CCAGCCGCCTCGCCCTCCGGC 0.751000 9 20 0 0 0.335167 0 0 LHX4 89884 broad.mit.edu 37 1 180241097 180241097 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:180241097C>G ENST00000263726.2 + 5 978 c.734C>G c.(733-735)tCt>tGt p.S245C RP5-1180C10.2_ENST00000415414.1_RNA NM_033343.3 NP_203129.1 Q969G2 LHX4_HUMAN LIM homeobox 4 245 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1) 16 AAGGAGAGCTCTGCAGAGGAC 0.617000 5 44 0 0 0.248553 0 0 INPP5A 3632 broad.mit.edu 37 10 134459392 134459392 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:134459392G>A ENST00000368594.3 + 3 415 c.138G>A c.(136-138)ccG>ccA p.P46P INPP5A_ENST00000368593.3_Silent_p.P46P NM_005539.3 NP_005530.3 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase, 40kDa 46 cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) CACACAAGCCGCACTTCATGG 0.612000 20 34 0 0 0.353513 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48604701 48604701 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:48604701C>T ENST00000323776.5 + 15 2514 c.2352C>T c.(2350-2352)ctC>ctT p.L784L MYCBPAP_ENST00000436259.2_Silent_p.L747L NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 747 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) TGATGAGGCTCAACAAAGCAG 0.592000 20 119 0 0 0.219247 0 0 RFC4 5984 broad.mit.edu 37 3 186509528 186509528 + Missense_Mutation SNP T T C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:186509528T>C ENST00000392481.2 - 8 1068 c.787A>G c.(787-789)Aca>Gca p.T263A RFC4_ENST00000433496.1_Missense_Mutation_p.T263A|RFC4_ENST00000296273.2_Missense_Mutation_p.T263A NM_181573.2 NP_853551.1 P35249 RFC4_HUMAN replication factor C (activator 1) 4, 37kDa 263 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) GCAATGTCTGTAATCACTTTC 0.373000 3 126 0 0 0.115264 0 0 INF2 64423 broad.mit.edu 37 14 105174218 105174218 + Silent SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:105174218C>A ENST00000392634.4 + 8 1726 c.1614C>A c.(1612-1614)atC>atA p.I538I INF2_ENST00000330634.7_Silent_p.I538I NM_022489.3 NP_071934.3 Q27J81 INF2_HUMAN inverted formin, FH2 and WH2 domain containing 538 actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) AGGAGGTCATCGTGGCCCAGG 0.677000 5 23 3.59834e-05 3.72459e-05 0.217242 1 0 DPT 1805 broad.mit.edu 37 1 168665804 168665804 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:168665804C>T ENST00000367817.3 - 4 678 c.589G>A c.(589-591)Gaa>Aaa p.E197K NM_001937.4 NP_001928.2 Q07507 DERM_HUMAN dermatopontin 197 cell adhesion extracellular space|proteinaceous extracellular matrix kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2) 12 all_hematologic(923;0.208) TTTGCAAATTCACAGTCGTAT 0.473000 9 61 0 0 0.361761 0 0 SNHG12 85028 broad.mit.edu 37 1 28907553 28907553 + RNA SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:28907553C>A ENST00000488745.1 - 0 1013 SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000384342.1_RNA GCTGCAGCTTCGATAAGGGCC 0.532000 16 74 4.96729e-08 5.25215e-08 0.204396 1 0 MUC6 4588 broad.mit.edu 37 11 1028937 1028937 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:1028937C>T ENST00000421673.2 - 12 1455 c.1405G>A c.(1405-1407)Gag>Aag p.E469K NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 469 VWFD 2. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTGACCACCTCGTCCTGAGAG 0.627000 33 49 0 0 0.312237 0 0 FOXC2 2303 broad.mit.edu 37 16 86601504 86601504 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:86601504C>T ENST00000320354.4 + 1 648 c.563C>T c.(562-564)cCg>cTg p.P188L NM_005251.2 NP_005242.1 Q99958 FOXC2_HUMAN forkhead box C2 (MFH-1, mesenchyme forkhead 1) 188 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|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 factor binding|transcription regulatory region DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 15 GAGCCGCCCCCGGCGGCGTCC 0.701000 Late-onset Hereditary Lymphedema 7 18 0 0 0.361761 0 0 NARS2 79731 broad.mit.edu 37 11 78239958 78239958 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:78239958C>T ENST00000281038.5 - 6 994 c.619G>A c.(619-621)Gag>Aag p.E207K NARS2_ENST00000528850.1_5'UTR NM_001243251.1|NM_024678.5 NP_001230180.1|NP_078954.4 Q96I59 SYNM_HUMAN asparaginyl-tRNA synthetase 2, mitochondrial (putative) 207 asparaginyl-tRNA aminoacylation mitochondrial matrix asparagine-tRNA ligase activity|ATP binding|nucleic acid binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1) 27 all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19) L-Asparagine(DB00174) AAATTCTCCTCAGGTACCTTA 0.353000 35 75 0 0 0.246493 0 0 GRIN1 2902 broad.mit.edu 37 9 140051368 140051368 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr9:140051368G>A ENST00000371561.3 + 6 1944 c.847G>A c.(847-849)Gac>Aac p.D283N GRIN1_ENST00000350902.5_Missense_Mutation_p.D283N|GRIN1_ENST00000371546.4_Missense_Mutation_p.D304N|GRIN1_ENST00000371555.4_Missense_Mutation_p.D304N|GRIN1_ENST00000371553.3_Missense_Mutation_p.D304N|GRIN1_ENST00000315048.3_Missense_Mutation_p.D283N|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371550.4_Missense_Mutation_p.D283N|GRIN1_ENST00000371559.4_Missense_Mutation_p.D283N|GRIN1_ENST00000371560.3_Missense_Mutation_p.D304N NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 283 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CCACATCAGCGACGCCGTGGG 0.672000 7 3 0 0 0.278610 0 0 NR1D2 9975 broad.mit.edu 37 3 24003672 24003672 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:24003672C>T ENST00000312521.4 + 5 1041 c.722C>T c.(721-723)tCt>tTt p.S241F NR1D2_ENST00000492552.1_3'UTR NM_001145425.1|NM_005126.4 NP_001138897.1|NP_005117 Q14995 NR1D2_HUMAN nuclear receptor subfamily 1, group D, member 2 241 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 22 ATCAAAAGCTCTTCTCCTCCA 0.448000 14 32 0 0 0.146539 0 0 CORO7-PAM16 100529144 broad.mit.edu 37 16 4390379 4390379 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:4390379C>T ENST00000572467.1 - 31 3156 c.3088G>A c.(3088-3090)Gag>Aag p.E1030K PAM16_ENST00000573553.1_Missense_Mutation_p.E127K|PAM16_ENST00000576217.1_Missense_Mutation_p.E107K|PAM16_ENST00000575848.1_Missense_Mutation_p.E119K|PAM16_ENST00000318059.3_Missense_Mutation_p.E107K|PAM16_ENST00000577031.1_Intron|PAM16_ENST00000571941.1_Missense_Mutation_p.E127K NM_001201479.1 NP_001188408.1 TTGAGTTCCTCATCCAGGCGC 0.622000 23 41 0 0 0.309145 0 0 MALAT1 378938 broad.mit.edu 37 11 65273802 65273802 + RNA SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:65273802G>C ENST00000534336.1 + 0 8570 NR_002819.2 AGCTTGACTTGATTGTATATT 0.398000 8 19 0 0 0.307466 0 0 TTC8 123016 broad.mit.edu 37 14 89336504 89336504 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:89336504C>G ENST00000338104.6 + 11 1111 c.1059C>G c.(1057-1059)ttC>ttG p.F353L TTC8_ENST00000358622.5_Missense_Mutation_p.F139L|TTC8_ENST00000346301.4_Missense_Mutation_p.F297L|TTC8_ENST00000380656.2_Missense_Mutation_p.F337L|TTC8_ENST00000354441.6_Missense_Mutation_p.F72L|TTC8_ENST00000536576.1_Missense_Mutation_p.F98L|TTC8_ENST00000345383.5_Missense_Mutation_p.F327L Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 363 cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 GCAACCACTTCTATTCTGATC 0.363000 94 131 0 0 0.323286 0 0 CROCCP2 84809 broad.mit.edu 37 1 16958063 16958063 + RNA SNP C C T rs2779441 by1000genomes TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:16958063C>T ENST00000412962.1 - 0 74 AGCCCCTCTCCATCCTCTGTC 0.652000 3 7 0 0 0.150653 0 0 MALAT1 378938 broad.mit.edu 37 11 65271994 65271994 + RNA SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:65271994G>C ENST00000534336.1 + 0 6762 NR_002819.2 GCTGAGTGTTGAGGAAATTTC 0.373000 10 25 0 0 0.105934 0 0 ANKRD16 54522 broad.mit.edu 37 10 5925115 5925115 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:5925115C>T ENST00000380094.5 - 5 1246 c.703G>A c.(703-705)Gaa>Aaa p.E235K ANKRD16_ENST00000380092.4_Missense_Mutation_p.E235K|ANKRD16_ENST00000191063.8_Missense_Mutation_p.E235K NM_019046.2 NP_061919.1 Q6P6B7 ANR16_HUMAN ankyrin repeat domain 16 235 breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2) 12 AGGCTGTCTTCTGCTGAAAGG 0.542000 6 31 0 0 0.335167 0 0 CDH23 64072 broad.mit.edu 37 10 73464806 73464806 + Missense_Mutation SNP A A G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:73464806A>G ENST00000224721.6 + 24 2892 c.2887A>G c.(2887-2889)Atc>Gtc p.I963V CDH23_ENST00000299366.7_Missense_Mutation_p.I1003V NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 958 Cadherin 9. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CCGCGAGCGCATCGCGGAGTA 0.677000 18 41 0 0 0.249174 0 0 TRIP12 9320 broad.mit.edu 37 2 230636274 230636274 + Silent SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:230636274G>C ENST00000283943.5 - 38 5722 c.5544C>G c.(5542-5544)gtC>gtG p.V1848V TRIP12_ENST00000389044.4_Silent_p.V1896V|TRIP12_ENST00000389045.3_Silent_p.V1578V NM_001284214.1|NM_004238.1 NP_001271143.1|NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1848 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TGAGTGGGAAGACTGATTCAA 0.378000 5 47 0 0 0.217242 0 0 SLC2A10 81031 broad.mit.edu 37 20 45354826 45354826 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr20:45354826C>T ENST00000359271.2 + 2 1401 c.1151C>T c.(1150-1152)tCa>tTa p.S384L NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 384 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) GGAGACCCCTCAGCCCCTCCT 0.632000 12 57 0 0 0.119110 0 0 EIF2AK1 27102 broad.mit.edu 37 7 6098634 6098634 + Translation_Start_Site SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:6098634G>C ENST00000536084.1 - 0 161 EIF2AK1_ENST00000199389.6_Missense_Mutation_p.I27M Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha kinase 1 negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 27 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) CGGGAAAGTCGATGGCCGGCG 0.741000 3 6 0 0 0.150653 0 0 GLDC 2731 broad.mit.edu 37 9 6540106 6540106 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr9:6540106G>C ENST00000321612.6 - 22 2760 c.2610C>G c.(2608-2610)ttC>ttG p.F870L NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 870 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CAGACTTTTTGAAGGGTCTCG 0.448000 19 90 0 0 0.219247 0 0 CCDC120 90060 broad.mit.edu 37 X 48925163 48925163 + Nonsense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrX:48925163G>T ENST00000376396.3 + 10 1627 c.1408G>T c.(1408-1410)Gag>Tag p.E470* CCDC120_ENST00000536628.2_Nonsense_Mutation_p.E458*|CCDC120_ENST00000597275.1_Nonsense_Mutation_p.E470*|CCDC120_ENST00000422185.2_Nonsense_Mutation_p.E470*|CCDC120_ENST00000603986.1_Nonsense_Mutation_p.E505*|CCDC120_ENST00000496529.2_Nonsense_Mutation_p.E470* NM_001271835.1|NM_001271836.1|NM_033626.2 NP_001258764.1|NP_001258765.1|NP_296375.1 Q96HB5 CC120_HUMAN coiled-coil domain containing 120 470 Pro-rich. protein binding breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 14 GCCTGCAGCTGAGGTCCCAGG 0.682000 7 8 0.27861 0.280034 0.278610 1 0 DIDO1 11083 broad.mit.edu 37 20 61541311 61541311 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr20:61541311C>T ENST00000266070.4 - 4 1226 c.901G>A c.(901-903)Gag>Aag p.E301K DIDO1_ENST00000395335.2_Missense_Mutation_p.E301K|DIDO1_ENST00000370371.4_Missense_Mutation_p.E301K|DIDO1_ENST00000370368.1_Missense_Mutation_p.E301K|DIDO1_ENST00000395340.1_Missense_Mutation_p.E301K|DIDO1_ENST00000395343.1_Missense_Mutation_p.E301K|DIDO1_ENST00000266071.5_Missense_Mutation_p.E301K|DIDO1_ENST00000370366.1_Missense_Mutation_p.E301K|DIDO1_ENST00000354665.4_Missense_Mutation_p.E301K NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 301 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CCTCGAGCCTCAGAAATGCCC 0.453000 25 63 0 0 0.396831 0 0 FRG1B 284802 broad.mit.edu 37 20 29625891 29625891 + Silent SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr20:29625891C>G ENST00000278882.3 + 5 515 c.135C>G c.(133-135)ggC>ggG p.G45G FRG1B_ENST00000439954.2_Silent_p.G50G|FRG1B_ENST00000358464.4_Silent_p.G45G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGAAATCTGGCTATGGAAAAT 0.343000 3 87 0 0 0.184627 0 0 HGF 3082 broad.mit.edu 37 7 81346648 81346648 + Silent SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:81346648C>G ENST00000222390.5 - 11 1531 c.1305G>C c.(1303-1305)ctG>ctC p.L435L HGF_ENST00000457544.2_Silent_p.L430L NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 435 Kringle 4. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 AATTCTCATTCAGCTTACTTG 0.438000 43 87 0 0 0.323286 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30722721 30722721 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr22:30722721G>T ENST00000215790.7 - 1 314 c.150C>A c.(148-150)ttC>ttA p.F50L TBC1D10A_ENST00000403477.3_Missense_Mutation_p.F50L|TBC1D10A_ENST00000490449.1_5'UTR NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 50 intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity p.F50F(1) cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 GGCGCTCGGCGAAGCCGTTGG 0.711000 19 32 2.41591e-17 2.70472e-17 0.309145 1 0 C1orf173 127254 broad.mit.edu 37 1 75065450 75065450 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:75065450G>A ENST00000326665.5 - 11 1873 c.1655C>T c.(1654-1656)cCa>cTa p.P552L C1orf173_ENST00000420661.2_Missense_Mutation_p.P355L|RP4-612J11.1_ENST00000416017.1_RNA NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 552 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 ACGGGCATCTGGTGCCTTCTG 0.408000 43 102 0 0 0.279185 0 0 HIST1H2AG 8969 broad.mit.edu 37 6 27100906 27100906 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:27100906C>T ENST00000359193.2 + 1 75 c.56C>T c.(55-57)tCt>tTt p.S19F NM_021064.4 NP_066408.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2ag 19 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 17 AAGACTCGCTCTTCTAGGGCC 0.642000 24 34 0 0 0.338820 0 0 BSN 8927 broad.mit.edu 37 3 49691151 49691151 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:49691151C>A ENST00000296452.4 + 5 4276 c.4162C>A c.(4162-4164)Cct>Act p.P1388T NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1388 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) AGCTGTGGCTCCTTGTCCAGC 0.622000 32 62 4.3181e-19 4.89938e-19 0.173368 1 0 KIAA1468 57614 broad.mit.edu 37 18 59855231 59855231 + Nonsense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr18:59855231G>T ENST00000256858.6 + 1 741 c.493G>T c.(493-495)Gaa>Taa p.E165* KIAA1468_ENST00000398130.2_Nonsense_Mutation_p.E165* Q9P260 K1468_HUMAN KIAA1468 165 binding autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) TGGAGGTCGGGAACCGAGTAC 0.652000 OREG0025032 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 14 0.150653 0.151682 0.150653 1 0 USP33 23032 broad.mit.edu 37 1 78187599 78187599 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:78187599G>A ENST00000370793.1 - 15 2013 c.1667C>T c.(1666-1668)tCa>tTa p.S556L USP33_ENST00000357428.1_Missense_Mutation_p.S556L|USP33_ENST00000370792.3_Intron|USP33_ENST00000370794.3_Missense_Mutation_p.S525L NM_015017.4 NP_055832.3 Q8TEY7 UBP33_HUMAN ubiquitin specific peptidase 33 556 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 AGGGACACATGAGACAACAAA 0.373000 14 29 0 0 0.132662 0 0 ASPRV1 151516 broad.mit.edu 37 2 70188237 70188237 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:70188237C>T ENST00000320256.4 - 1 1160 c.584G>A c.(583-585)gGc>gAc p.G195D NM_152792.2 NP_690005.2 Q53RT3 APRV1_HUMAN aspartic peptidase, retroviral-like 1 195 protein maturation by peptide bond cleavage|skin development aspartic-type endopeptidase activity endometrium(3)|large_intestine(4)|lung(6)|ovary(1) 14 GAGATAGTAGCCCTTACCCAT 0.602000 26 48 0 0 0.193644 0 0 XPO5 57510 broad.mit.edu 37 6 43516011 43516011 + Nonsense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:43516011G>A ENST00000265351.7 - 18 2257 c.2047C>T c.(2047-2049)Caa>Taa p.Q683* NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 683 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) TGCATGTCTTGAGAAAGCCAG 0.502000 22 94 0 0 0.324025 0 0 MALAT1 378938 broad.mit.edu 37 11 65273619 65273619 + RNA SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:65273619G>T ENST00000534336.1 + 0 8387 NR_002819.2 TGGTTTCCAGGACGGGGTTCA 0.423000 10 23 3.86212e-05 3.99063e-05 0.361761 1 0 ITGAX 3687 broad.mit.edu 37 16 31391116 31391116 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:31391116C>T ENST00000268296.4 + 25 3028 c.2907C>T c.(2905-2907)atC>atT p.I969I ITGAX_ENST00000562522.1_Silent_p.I969I NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 969 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 CTGTCAGCATCAACTTCTGGG 0.617000 8 24 0 0 0.387290 0 0 KMT2D 8085 broad.mit.edu 37 12 49448457 49448457 + Missense_Mutation SNP A A G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:49448457A>G ENST00000301067.7 - 3 253 c.254T>C c.(253-255)tTt>tCt p.F85S NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TGGCAACTCAAAGCGCCGTAG 0.622000 3 10 0 0 0.115264 0 0 TSPAN1 10103 broad.mit.edu 37 1 46651197 46651197 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:46651197C>G ENST00000372003.1 + 9 1182 c.718C>G c.(718-720)Cta>Gta p.L240V NM_005727.3 NP_005718.2 O60635 TSN1_HUMAN tetraspanin 1 240 integral to membrane|lysosomal membrane kidney(1)|large_intestine(1)|lung(5)|ovary(1) 8 Acute lymphoblastic leukemia(166;0.155) Medulloblastoma(700;0.00498)|all_neural(321;0.0212) GTACTGCAATCTACAATAAGT 0.542000 46 236 0 0 0.323286 0 0 INF2 64423 broad.mit.edu 37 14 105173276 105173276 + Silent SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:105173276C>G ENST00000392634.4 + 7 985 c.873C>G c.(871-873)ctC>ctG p.L291L INF2_ENST00000330634.7_Silent_p.L291L NM_022489.3 NP_071934.3 Q27J81 INF2_HUMAN inverted formin, FH2 and WH2 domain containing 291 GBD/FH3. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) CTGCCCAGCTCCTGTCGGTGC 0.706000 15 22 0 0 0.189662 0 0 SLTM 79811 broad.mit.edu 37 15 59191829 59191829 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:59191829C>A ENST00000380516.2 - 7 984 c.897G>T c.(895-897)atG>atT p.M299I SLTM_ENST00000536328.1_Intron NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 299 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding p.M299I(2) breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GGTTCGCATTCATCTCATAAT 0.448000 37 118 1.48734e-19 1.70064e-19 0.312237 1 0 ARFGAP1 55738 broad.mit.edu 37 20 61907473 61907473 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr20:61907473C>G ENST00000370275.4 + 3 183 c.91C>G c.(91-93)Cag>Gag p.Q31E ARFGAP1_ENST00000353546.3_Missense_Mutation_p.Q31E|ARFGAP1_ENST00000519273.2_5'UTR|ARFGAP1_ENST00000519604.1_Intron|ARFGAP1_ENST00000547204.1_Intron|ARFGAP1_ENST00000370283.4_Missense_Mutation_p.Q31E NM_001281482.1 NP_001268411.1 Q8N6T3 ARFG1_HUMAN ADP-ribosylation factor GTPase activating protein 1 31 Arf-GAP. COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER cytosol|Golgi-associated vesicle membrane ARF GTPase activator activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1) 13 all_cancers(38;1.59e-09) GTTCAATCCTCAGTGGGTCAG 0.617000 85 154 0 0 0.323286 0 0 NR1H2 7376 broad.mit.edu 37 19 50881884 50881884 + Nonsense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:50881884C>A ENST00000253727.5 + 6 813 c.578C>A c.(577-579)tCa>tAa p.S193* NR1H2_ENST00000599105.1_Nonsense_Mutation_p.S193*|NR1H2_ENST00000411902.2_Nonsense_Mutation_p.S96*|NR1H2_ENST00000593926.1_Nonsense_Mutation_p.S193*|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000598168.1_Nonsense_Mutation_p.S193* NM_007121.5 NP_009052 P55055 NR1H2_HUMAN nuclear receptor subfamily 1, group H, member 2 193 Poly-Ser. negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 8 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) AGCAGCAGCTCAGCCTCTGGG 0.607000 16 17 7.05477e-17 7.85342e-17 0.160694 1 0 CERS6 253782 broad.mit.edu 37 2 169313067 169313067 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:169313067G>T ENST00000305747.6 + 1 696 c.109G>T c.(109-111)Gac>Tac p.D37Y CERS6_ENST00000392687.4_Missense_Mutation_p.D37Y NM_203463.2 NP_982288.1 Q6ZMG9 CERS6_HUMAN ceramide synthase 6 37 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity GCAGGCTGAGGACCTCTATCT 0.597000 19 59 3.83957e-06 3.99532e-06 0.264190 1 0 KNTC1 9735 broad.mit.edu 37 12 123095437 123095437 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:123095437C>T ENST00000333479.7 + 53 5789 c.5612C>T c.(5611-5613)tCa>tTa p.S1871L KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000537348.1_Missense_Mutation_p.S296L|KNTC1_ENST00000450485.2_Missense_Mutation_p.S796L NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 1871 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) TTTGCAACATCAACTACAACC 0.333000 12 47 0 0 0.132662 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64607917 64607917 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:64607917C>A ENST00000498707.1 - 18 2985 c.2643G>T c.(2641-2643)tgG>tgT p.W881C ADAMTS9_ENST00000295903.4_Missense_Mutation_p.W853C NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 881 TSP type-1 2. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CATGACTGTTCCAGTAAAACT 0.393000 35 68 1.57945e-13 1.71617e-13 0.301197 1 0 CHKB 1120 broad.mit.edu 37 22 51019955 51019955 + Nonsense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr22:51019955G>A ENST00000406938.2 - 4 692 c.475C>T c.(475-477)Cga>Tga p.R159* CHKB_ENST00000463053.1_5'UTR NM_005198.4 NP_005189.2 Q9Y259 CHKB_HUMAN choline kinase beta 159 phosphatidylethanolamine biosynthetic process ATP binding|choline kinase activity|ethanolamine kinase activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1) 15 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205) Choline(DB00122) ACTGGCTCTCGAAGCTCTTGA 0.572000 11 35 0 0 0.105934 0 0 MYH7 4625 broad.mit.edu 37 14 23891402 23891402 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:23891402C>G ENST00000355349.3 - 25 3394 c.3232G>C c.(3232-3234)Gag>Cag p.E1078Q NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1078 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TTCAGCCGCTCATCCAGCTGC 0.592000 27 89 0 0 0.183431 0 0 COL20A1 57642 broad.mit.edu 37 20 61936830 61936830 + Silent SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr20:61936830G>C ENST00000422202.1 + 3 323 c.255G>C c.(253-255)ctG>ctC p.L85L COL20A1_ENST00000326996.6_Silent_p.L85L|COL20A1_ENST00000435874.1_Silent_p.L85L|COL20A1_ENST00000358894.6_Silent_p.L85L Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 85 Fibronectin type-III 1. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) TGGGGGGCCTGAGCCCCTCCA 0.612000 8 11 0 0 0.387290 0 0 N6AMT1 29104 broad.mit.edu 37 21 30255367 30255367 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr21:30255367G>A ENST00000303775.5 - 2 186 c.161C>T c.(160-162)tCa>tTa p.S54L N6AMT1_ENST00000351429.3_Missense_Mutation_p.S54L NM_013240.4 NP_037372 Q9Y5N5 HEMK2_HUMAN N-6 adenine-specific DNA methyltransferase 1 (putative) 54 S-adenosyl-L-methionine binding (By similarity). positive regulation of cell growth protein complex nucleic acid binding|protein binding|protein methyltransferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2) 12 ACCAGACCCTGACCCTACTTC 0.368000 11 52 0 0 0.146539 0 0 KIF3C 3797 broad.mit.edu 37 2 26204403 26204403 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:26204403G>T ENST00000264712.3 - 1 963 c.384C>A c.(382-384)ttC>ttA p.F128L KIF3C_ENST00000405914.1_Missense_Mutation_p.F128L NM_002254.6 NP_002245 O14782 KIF3C_HUMAN kinesin family member 3C 128 Kinesin-motor. blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGATGTGGGTGAAGATGTGCT 0.602000 44 91 4.75821e-42 5.58121e-42 0.323286 1 0 TNIP2 79155 broad.mit.edu 37 4 2746230 2746230 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr4:2746230G>A ENST00000510267.1 - 5 1016 c.589C>T c.(589-591)Ctc>Ttc p.L197F TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000315423.7_Missense_Mutation_p.L304F|TNIP2_ENST00000503235.1_Missense_Mutation_p.L221F NM_001161527.1 NP_001154999.1 Q8NFZ5 TNIP2_HUMAN TNFAIP3 interacting protein 2 304 cytosol protein binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TTGTAAGCGAGAATCTGAAGA 0.552000 23 44 0 0 0.368089 0 0 TRBV5-7 28608 broad.mit.edu 37 7 142111558 142111558 + RNA SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:142111558G>T ENST00000390378.1 - 0 177 TGGGGCCCCTGACCCAGGGCC 0.502000 16 84 3.41278e-10 3.66099e-10 0.160694 1 0 RYR2 6262 broad.mit.edu 37 1 237806646 237806646 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:237806646G>C ENST00000366574.2 + 48 7558 c.7241G>C c.(7240-7242)gGa>gCa p.G2414A RYR2_ENST00000360064.6_Missense_Mutation_p.G2412A|RYR2_ENST00000542537.1_Missense_Mutation_p.G2398A NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2414 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCCGGGAAGGGAGAAGCCATC 0.413000 37 139 0 0 0.323286 0 0 CCDC88A 55704 broad.mit.edu 37 2 55615938 55615938 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:55615938C>T ENST00000436346.1 - 3 1090 c.249G>A c.(247-249)gtG>gtA p.V83V CCDC88A_ENST00000413716.2_Silent_p.V83V|CCDC88A_ENST00000263630.8_Silent_p.V83V|CCDC88A_ENST00000336838.6_Silent_p.V83V NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 83 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 TTATCTGTCTCACCAAAATGG 0.294000 30 70 0 0 0.183431 0 0 INTS3 65123 broad.mit.edu 37 1 153713793 153713793 + Silent SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:153713793C>A ENST00000318967.2 + 3 835 c.267C>A c.(265-267)atC>atA p.I89I INTS3_ENST00000435409.2_Silent_p.I89I|INTS3_ENST00000456435.1_5'UTR NM_023015.3 NP_075391.3 Q68E01 INT3_HUMAN integrator complex subunit 3 89 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ATGAAGAAATCTGCCTGGGCC 0.493000 18 169 5.35047e-06 5.55771e-06 0.279207 1 0 C2CD3 26005 broad.mit.edu 37 11 73814626 73814626 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:73814626G>C ENST00000334126.7 - 14 2356 c.2130C>G c.(2128-2130)atC>atG p.I710M C2CD3_ENST00000313663.7_Missense_Mutation_p.I710M Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 710 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) ACTTAGTATTGATACCAGTGA 0.373000 26 47 0 0 0.309145 0 0 ANPEP 290 broad.mit.edu 37 15 90348636 90348636 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:90348636C>G ENST00000300060.6 - 3 986 c.673G>C c.(673-675)Gat>Cat p.D225H NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 225 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) GCCGGCTCATCGAAGCATGGG 0.607000 24 34 0 0 0.338820 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 70 0 0 0.115264 0 0 PHF3 23469 broad.mit.edu 37 6 64390047 64390047 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:64390047C>T ENST00000262043.3 + 3 731 c.391C>T c.(391-393)Cgt>Tgt p.R131C PHF3_ENST00000393387.1_Missense_Mutation_p.R131C|PHF3_ENST00000509330.1_Missense_Mutation_p.R131C Q92576 PHF3_HUMAN PHD finger protein 3 131 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) AAAATCACCTCGTTTAATGGC 0.383000 18 93 0 0 0.234183 0 0 PRUNE 58497 broad.mit.edu 37 1 151001306 151001306 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:151001306C>G ENST00000271620.3 + 7 975 c.819C>G c.(817-819)ttC>ttG p.F273L PRUNE_ENST00000368937.1_Intron|PRUNE_ENST00000368935.1_Intron|PRUNE_ENST00000271619.8_Intron|PRUNE_ENST00000368936.1_Missense_Mutation_p.F91L|PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000368934.1_Intron NM_021222.1 NP_067045.1 Q86TP1 PRUNE_HUMAN prune exopolyphosphatase 273 cytoplasm|focal adhesion|nucleus inorganic diphosphatase activity|manganese ion binding|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 14 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TCCATGCTTTCTGCCAGGCTC 0.478000 16 109 0 0 0.219247 0 0 MALAT1 378938 broad.mit.edu 37 11 65272034 65272034 + RNA SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:65272034G>T ENST00000534336.1 + 0 6802 NR_002819.2 ATTTGTGATTGAAGCTGAGTA 0.393000 8 16 5.4927e-09 5.82859e-09 0.307466 1 0 TARDBP 23435 broad.mit.edu 37 1 11082686 11082686 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:11082686C>G ENST00000240185.3 + 6 1334 c.1220C>G c.(1219-1221)tCt>tGt p.S407C TARDBP_ENST00000315091.3_Intron|TARDBP_ENST00000439080.2_Missense_Mutation_p.S291C NM_007375.3 NP_031401.1 Q13148 TADBP_HUMAN TAR DNA binding protein 407 Gly-rich. 3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2) 11 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0578) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487) AGCATGGATTCTAAGTCTTCT 0.443000 26 146 0 0 0.257332 0 0 FAM129B 64855 broad.mit.edu 37 9 130269539 130269539 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr9:130269539G>A ENST00000373312.3 - 14 2039 c.1826C>T c.(1825-1827)tCa>tTa p.S609L FAM129B_ENST00000373314.3_Missense_Mutation_p.S596L|FAM129B_ENST00000468379.1_5'UTR NM_022833.2 NP_073744.2 Q96TA1 NIBL1_HUMAN family with sequence similarity 129, member B 609 protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 GAGGGTGGCTGACTCCGGGGT 0.697000 15 12 0 0 0.175082 0 0 IQGAP1 8826 broad.mit.edu 37 15 91020904 91020904 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:91020904G>A ENST00000268182.5 + 26 3236 c.3112G>A c.(3112-3114)Gta>Ata p.V1038I IQGAP1_ENST00000560738.1_Missense_Mutation_p.V466I NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1038 C1.|Ras-GAP. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) TAGGTCGAAGGTAGATCAGAT 0.393000 15 68 0 0 0.132662 0 0 NAALAD2 10003 broad.mit.edu 37 11 89896561 89896561 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:89896561G>A ENST00000534061.1 + 10 1389 c.1159G>A c.(1159-1161)Gaa>Aaa p.E387K NAALAD2_ENST00000525171.1_Missense_Mutation_p.E294K|NAALAD2_ENST00000321955.4_Missense_Mutation_p.E354K|NAALAD2_ENST00000375944.3_Intron NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 387 NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TGTTTTGCAAGAAATTGCCCG 0.398000 52 101 0 0 0.323286 0 0 CD300LF 146722 broad.mit.edu 37 17 72699199 72699199 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:72699199G>C ENST00000469092.1 - 4 706 c.430C>G c.(430-432)Ctg>Gtg p.L144V RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000361254.4_Missense_Mutation_p.L159V|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000464910.1_Missense_Mutation_p.L144V|CD300LF_ENST00000301573.9_Missense_Mutation_p.L141V|CD300LF_ENST00000581500.1_Missense_Mutation_p.L159V|CD300LF_ENST00000326165.6_Missense_Mutation_p.L141V|CD300LF_ENST00000343125.4_Missense_Mutation_p.L144V|CD300LF_ENST00000583937.1_Missense_Mutation_p.L156V Q8TDQ1 CLM1_HUMAN CD300 molecule-like family member f 141 integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 TGGCCGGTCAGAGTTGGGGAG 0.547000 11 104 0 0 0.105934 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25251339 25251339 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:25251339C>G ENST00000328086.7 - 7 3505 c.2702G>C c.(2701-2703)aGa>aCa p.R901T NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 901 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) TTCTCGAAATCTCGTACAGTT 0.458000 13 29 0 0 0.132662 0 0 OR6K6 128371 broad.mit.edu 37 1 158724899 158724899 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:158724899G>A ENST00000368144.2 + 1 390 c.294G>A c.(292-294)gaG>gaA p.E98E NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) CCTTCCTGGAGATCTGCTATA 0.483000 58 177 0 0 0.323286 0 0 ATP1A2 477 broad.mit.edu 37 1 160098495 160098495 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:160098495G>A ENST00000361216.3 + 9 1160 c.1071G>A c.(1069-1071)aaG>aaA p.K357K ATP1A2_ENST00000392233.3_Silent_p.K357K NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 357 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GCCTGGTGAAGAACCTGGAGG 0.592000 29 97 0 0 0.193644 0 0 GJB3 2707 broad.mit.edu 37 1 35250591 35250591 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:35250591C>T ENST00000373366.2 + 2 843 c.228C>T c.(226-228)ctC>ctT p.L76L RP1-34M23.5_ENST00000542839.1_RNA|GJB3_ENST00000373362.3_Silent_p.L76L NM_024009.2 NP_076872.1 O75712 CXB3_HUMAN gap junction protein, beta 3, 31kDa 76 cell communication connexon complex|integral to membrane gap junction channel activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) ACATCCGCCTCTGGGCCCTGC 0.622000 12 22 0 0 0.387290 0 0 INTS5 80789 broad.mit.edu 37 11 62416959 62416959 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:62416959G>A ENST00000330574.2 - 2 645 c.593C>T c.(592-594)tCg>tTg p.S198L NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 198 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 AATGAGAGCCGAGAGGCACTG 0.532000 31 102 0 0 0.193644 0 0 HSCB 150274 broad.mit.edu 37 22 29138168 29138168 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr22:29138168G>T ENST00000216027.3 + 1 150 c.85G>T c.(85-87)Gat>Tat p.D29Y CHEK2_ENST00000544772.1_5'UTR|HSCB_ENST00000398941.2_Missense_Mutation_p.D29Y NM_172002.3 NP_741999.3 Q8IWL3 HSC20_HUMAN HscB mitochondrial iron-sulfur cluster co-chaperone 29 iron-sulfur cluster assembly|protein folding mitochondrion chaperone binding|heat shock protein binding|metal ion binding kidney(1)|lung(2)|skin(1) 4 GCTAAGCTGCGATGCTGCGTC 0.682000 3 12 0.00909568 0.00928452 0.150653 1 0 BCL9 607 broad.mit.edu 37 1 147092562 147092562 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:147092562G>A ENST00000234739.3 + 8 3341 c.2601G>A c.(2599-2601)acG>acA p.T867T NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 867 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) AGTCTCCCACGATGCACCAAG 0.637000 T """IGH@, IGL@""" B-ALL 23 97 0 0 0.294199 0 0 UGT3A1 133688 broad.mit.edu 37 5 35965895 35965895 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:35965895C>T ENST00000274278.3 - 4 793 c.436G>A c.(436-438)Gca>Aca p.A146T UGT3A1_ENST00000507113.1_Missense_Mutation_p.A112T|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Missense_Mutation_p.A92T|UGT3A1_ENST00000503189.1_Missense_Mutation_p.A146T NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 146 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAATCAAATGCTTCAACAAAT 0.383000 21 36 0 0 0.294199 0 0 HYDIN 54768 broad.mit.edu 37 16 71008159 71008159 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:71008159C>G ENST00000393567.2 - 33 5104 c.4954G>C c.(4954-4956)Gaa>Caa p.E1652Q NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1652 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ATTTCCGTTTCACAATGAGGT 0.428000 4 20 0 0 0.184627 0 0 HIST1H1T 3010 broad.mit.edu 37 6 26108038 26108038 + Missense_Mutation SNP C C A rs147905742 TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:26108038C>A ENST00000338379.4 - 1 326 c.284G>T c.(283-285)gGa>gTa p.G95V NM_005323.3 NP_005314.2 P22492 H1T_HUMAN histone cluster 1, H1t 95 H15. cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis nucleosome DNA binding breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1) 9 CACCAGGATTCCCTTGTTCAC 0.478000 23 55 1.17739e-12 1.27695e-12 0.324025 1 0 PPP2R5E 5529 broad.mit.edu 37 14 63851225 63851225 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:63851225G>C ENST00000337537.3 - 12 1741 c.1139C>G c.(1138-1140)tCt>tGt p.S380C PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.S380C|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.S304C NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2 NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1 Q16537 2A5E_HUMAN protein phosphatase 2, regulatory subunit B', epsilon isoform 380 signal transduction cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1) 15 OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128) GATGACGTTAGAGTTTTCTTC 0.363000 47 123 0 0 0.323286 0 0 NPAT 4863 broad.mit.edu 37 11 108044182 108044182 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:108044182G>C ENST00000278612.8 - 13 1634 c.1529C>G c.(1528-1530)aCt>aGt p.T510S NPAT_ENST00000610253.1_5'UTR NM_002519.2 NP_002510.2 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 510 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5) 46 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) AACAAATGAAGTTATTGGTAT 0.363000 43 91 0 0 0.323286 0 0 CHD1 1105 broad.mit.edu 37 5 98215419 98215419 + Nonsense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:98215419G>C ENST00000284049.3 - 22 3223 c.3074C>G c.(3073-3075)tCa>tGa p.S1025* NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1025 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) ATCCATATTTGAGAAGTTGGC 0.343000 3 10 0 0 0.150653 0 0 SON 6651 broad.mit.edu 37 21 34927106 34927106 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr21:34927106C>T ENST00000356577.4 + 3 6044 c.5569C>T c.(5569-5571)Cat>Tat p.H1857Y SON_ENST00000290239.6_Missense_Mutation_p.H1857Y|SON_ENST00000381679.4_Missense_Mutation_p.H1857Y|SON_ENST00000300278.4_Missense_Mutation_p.H1857Y|SON_ENST00000381692.2_Intron NM_138927.1 NP_620305 P18583 SON_HUMAN SON DNA binding protein 1857 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 GTCCAAGTCTCATCGCTCTCA 0.448000 22 77 0 0 0.324025 0 0 ATP6V1B1 525 broad.mit.edu 37 2 71188791 71188791 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:71188791C>T ENST00000234396.4 + 8 826 c.753C>T c.(751-753)gtC>gtT p.V251V ATP6V1B1_ENST00000412314.1_Silent_p.V251V|AC007040.11_ENST00000606025.1_Intron NM_001692.3 NP_001683.2 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 251 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1) 19 TGGGGAACGTCTGCCTCTTCC 0.567000 32 64 0 0 0.257332 0 0 STS 412 broad.mit.edu 37 X 7268167 7268167 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrX:7268167G>C ENST00000217961.4 + 10 1837 c.1617G>C c.(1615-1617)caG>caC p.Q539H NM_000351.4 NP_000342.2 P08842 STS_HUMAN steroid sulfatase (microsomal), isozyme S 539 female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1) 27 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) GACACACCCAGACCCTGCCAG 0.542000 Ichthyosis 21 14 0 0 0.338820 0 0 DNAJC16 23341 broad.mit.edu 37 1 15890809 15890809 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:15890809C>G ENST00000375847.3 + 11 1717 c.1553C>G c.(1552-1554)tCt>tGt p.S518C DNAJC16_ENST00000375849.1_Missense_Mutation_p.S518C|DNAJC16_ENST00000375838.1_Missense_Mutation_p.S518C|DNAJC16_ENST00000483270.1_3'UTR NM_015291.2 NP_056106.1 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 518 cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1) 18 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) TACTCTGCTTCTGACTACATC 0.433000 28 130 0 0 0.203993 0 0 CAPG 822 broad.mit.edu 37 2 85625866 85625866 + Nonsense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:85625866C>A ENST00000263867.4 - 7 955 c.706G>T c.(706-708)Gag>Tag p.E236* CAPG_ENST00000483659.1_5'UTR|CAPG_ENST00000409921.1_Nonsense_Mutation_p.E221*|CAPG_ENST00000409670.1_Nonsense_Mutation_p.E236*|CAPG_ENST00000409724.1_Nonsense_Mutation_p.E236* NM_001256140.1|NM_001747.3 NP_001243069.1|NP_001738.2 P40121 CAPG_HUMAN capping protein (actin filament), gelsolin-like 236 barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6) 11 AGGTCTTCCTCAGGGTTGCCC 0.662000 5 17 0.0215528 0.0219244 0.217242 1 0 CLCF1 23529 broad.mit.edu 37 11 67134963 67134963 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:67134963C>G ENST00000312438.7 - 2 348 c.151G>C c.(151-153)Gag>Cag p.E51Q AP003419.11_ENST00000543494.1_RNA|CLCF1_ENST00000533438.1_Missense_Mutation_p.E41Q|CLCF1_ENST00000528474.1_Missense_Mutation_p.E41Q NM_013246.2 NP_037378.1 Q9UBD9 CLCF1_HUMAN cardiotrophin-like cytokine factor 1 51 B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity endometrium(1)|urinary_tract(1) 2 BRCA - Breast invasive adenocarcinoma(15;2.39e-06) AGTTGGTGCTCCAGGTAGCGG 0.602000 37 97 0 0 0.268233 0 0 DNAJC16 23341 broad.mit.edu 37 1 15871058 15871058 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:15871058C>A ENST00000375847.3 + 5 903 c.739C>A c.(739-741)Cca>Aca p.P247T DNAJC16_ENST00000375849.1_Missense_Mutation_p.P247T|DNAJC16_ENST00000375838.1_Missense_Mutation_p.P247T NM_015291.2 NP_056106.1 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 247 Thioredoxin. cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1) 18 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) AAGTCTTCTTCCAGGGAACTT 0.423000 19 89 3.7963e-18 4.28264e-18 0.279207 1 0 NUTM1 256646 broad.mit.edu 37 15 34645971 34645971 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:34645971C>A ENST00000537011.1 + 5 1355 c.973C>A c.(973-975)Cag>Aag p.Q325K NUTM1_ENST00000438749.3_Missense_Mutation_p.Q315K|NUTM1_ENST00000333756.4_Missense_Mutation_p.Q297K NM_001284292.1 NP_001271221.1 NUT midline carcinoma, family member 1 GATGCAGATTCAGAACACACA 0.542000 41 59 6.14515e-18 6.89285e-18 0.323286 1 0 INPP5D 3635 broad.mit.edu 37 2 234079180 234079180 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:234079180G>A ENST00000359570.5 + 18 1794 c.1794G>A c.(1792-1794)caG>caA p.Q598Q INPP5D_ENST00000538935.1_3'UTR|INPP5D_ENST00000455936.2_Silent_p.Q362Q|INPP5D_ENST00000450745.1_Silent_p.Q362Q Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 610 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) AGCAGCAGCAGTACGCAGACC 0.582000 18 36 0 0 0.264190 0 0 CMTM2 146225 broad.mit.edu 37 16 66620940 66620940 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:66620940G>A ENST00000268595.2 + 3 636 c.485G>A c.(484-486)gGa>gAa p.G162E CMTM2_ENST00000379486.2_Missense_Mutation_p.G109E NM_144673.2 NP_653274.1 Q8TAZ6 CKLF2_HUMAN CKLF-like MARVEL transmembrane domain containing 2 162 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 17 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212) TTCCTTGTGGGAGCCGTGGTC 0.522000 14 87 0 0 0.160694 0 0 PARP3 10039 broad.mit.edu 37 3 51979599 51979599 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:51979599G>T ENST00000417220.2 + 8 1438 c.950G>T c.(949-951)cGa>cTa p.R317L PARP3_ENST00000398755.3_Missense_Mutation_p.R324L|PARP3_ENST00000431474.1_Missense_Mutation_p.R317L Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 317 PARP catalytic. DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CCCCTGGACCGAGACTACCAG 0.627000 32 61 1.59932e-28 1.85748e-28 0.257332 1 0 KRT12 3859 broad.mit.edu 37 17 39017927 39017927 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:39017927C>T ENST00000251643.4 - 8 1494 c.1471G>A c.(1471-1473)Gaa>Aaa p.E491K RP5-1110E20.1_ENST00000579136.1_RNA NM_000223.3 NP_000214.1 Q99456 K1C12_HUMAN keratin 12 491 Tail. visual perception intermediate filament structural molecule activity p.E491Q(1) central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) ATTAGTTCTTCAATTTCCTGA 0.373000 9 57 0 0 0.132662 0 0 OR2L13 284521 broad.mit.edu 37 1 248263467 248263467 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:248263467C>T ENST00000366478.2 + 3 1127 c.790C>T c.(790-792)Ctc>Ttc p.L264F OR2L13_ENST00000358120.2_Missense_Mutation_p.L264F NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding p.L264I(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) GCCCAGGAATCTCCGCTCACC 0.468000 37 88 0 0 0.301197 0 0 ANPEP 290 broad.mit.edu 37 15 90348336 90348336 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:90348336C>T ENST00000300060.6 - 4 1183 c.870G>A c.(868-870)gtG>gtA p.V290V NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 290 Interaction with HCoV-229E.|Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) CCTGCTTCTCCACGTAGTCGA 0.562000 45 105 0 0 0.323286 0 0 BTBD2 55643 broad.mit.edu 37 19 2015370 2015370 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:2015370G>T ENST00000255608.4 - 1 349 c.333C>A c.(331-333)ttC>ttA p.F111L BTBD2_ENST00000590646.1_Intron NM_017797.3 NP_060267.2 Q9BX70 BTBD2_HUMAN BTB (POZ) domain containing 2 111 cytoplasmic mRNA processing body protein binding endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1) 12 Ovarian(11;2.11e-07)|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) CCTCGTTGTTGAAGAGGAAGG 0.731000 5 22 0.0381472 0.0386053 0.278610 1 0 SLC35F2 54733 broad.mit.edu 37 11 107673745 107673745 + Silent SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:107673745G>C ENST00000525071.1 - 10 1509 c.921C>G c.(919-921)ctC>ctG p.L307L SLC35F2_ENST00000429869.1_Silent_p.L307L|SLC35F2_ENST00000375682.4_Silent_p.L260L|SLC35F2_ENST00000525815.1_Silent_p.L307L|SLC35F2_ENST00000265836.7_Silent_p.L159L Q8IXU6 S35F2_HUMAN solute carrier family 35, member F2 307 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217) CAAACAGAAAGAGTCCAACAA 0.428000 18 42 0 0 0.219247 0 0 SLC23A3 151295 broad.mit.edu 37 2 220034634 220034634 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:220034634G>A ENST00000455516.2 - 1 120 c.73C>T c.(73-75)Cca>Tca p.P25S SLC23A3_ENST00000396775.3_5'UTR|SLC23A3_ENST00000295738.7_Missense_Mutation_p.P25S|SLC23A3_ENST00000409878.3_Missense_Mutation_p.P25S NM_001144890.1 NP_001138362.1 Q6PIS1 S23A3_HUMAN solute carrier family 23, member 3 25 transmembrane transport integral to membrane protein binding|transporter activity endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 11 Renal(207;0.0474) Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGAGCAGGTGGAGGCAAGGGG 0.617000 4 35 0 0 0.150653 0 0 PCDH12 51294 broad.mit.edu 37 5 141334867 141334867 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:141334867G>C ENST00000231484.3 - 1 3760 c.2550C>G c.(2548-2550)ttC>ttG p.F850L NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 850 neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGATGGTTGAAAAGGAGGT 0.627000 18 70 0 0 0.249174 0 0 ATP8B1 5205 broad.mit.edu 37 18 55351301 55351301 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr18:55351301C>G ENST00000536015.1 - 15 1716 c.1597G>C c.(1597-1599)Gtt>Ctt p.V533L RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.V533L|RP11-35G9.5_ENST00000588925.1_RNA NM_005603.4 NP_005594 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 533 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) GTGTGGCAAACTGCGAGCAAG 0.448000 13 69 0 0 0.175082 0 0 CSDE1 7812 broad.mit.edu 37 1 115262243 115262243 + Nonsense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:115262243G>A ENST00000438362.2 - 18 2689 c.2311C>T c.(2311-2313)Cag>Tag p.Q771* CSDE1_ENST00000534699.1_Nonsense_Mutation_p.Q725*|CSDE1_ENST00000261443.5_Nonsense_Mutation_p.Q694*|CSDE1_ENST00000530886.1_Nonsense_Mutation_p.Q595*|CSDE1_ENST00000339438.6_Nonsense_Mutation_p.Q694*|CSDE1_ENST00000369530.1_Nonsense_Mutation_p.Q740*|CSDE1_ENST00000358528.4_Nonsense_Mutation_p.Q725* NM_001242891.1 NP_001229820.1 O75534 CSDE1_HUMAN cold shock domain containing E1, RNA-binding 725 male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|protein binding|RNA binding NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 51 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-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) CCAGTGCGCTGATTAAGAATC 0.448000 24 101 0 0 0.324025 0 0 RABGGTA 5875 broad.mit.edu 37 14 24737148 24737148 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:24737148G>A ENST00000399409.3 - 12 1647 c.1164C>T c.(1162-1164)atC>atT p.I388I RABGGTA_ENST00000216840.6_Silent_p.I388I|RABGGTA_ENST00000560777.1_5'UTR NM_004581.5 NP_004572.3 Q92696 PGTA_HUMAN Rab geranylgeranyltransferase, alpha subunit 388 visual perception Rab geranylgeranyltransferase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 12 GBM - Glioblastoma multiforme(265;0.0184) TCAGCAGGATGATGGTAAGCA 0.577000 12 32 0 0 0.132662 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85450069 85450069 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:85450069G>A ENST00000393217.2 + 8 1559 c.1498G>A c.(1498-1500)Gaa>Aaa p.E500K NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 500 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) GGTCAAGCAAGAAAGAAAATA 0.303000 10 37 0 0 0.105934 0 0 ADIPOR1 51094 broad.mit.edu 37 1 202920093 202920093 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:202920093C>G ENST00000340990.5 - 2 404 c.106G>C c.(106-108)Gag>Cag p.E36Q ADIPOR1_ENST00000367254.3_Missense_Mutation_p.E36Q|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.E36Q NM_015999.4 NP_057083.2 Q96A54 ADR1_HUMAN adiponectin receptor 1 36 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) TTGCCCTTCTCTTCTAGCAGG 0.527000 16 148 0 0 0.175082 0 0 NR1D2 9975 broad.mit.edu 37 3 24003755 24003755 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:24003755C>G ENST00000312521.4 + 5 1124 c.805C>G c.(805-807)Caa>Gaa p.Q269E NR1D2_ENST00000492552.1_3'UTR NM_001145425.1|NM_005126.4 NP_001138897.1|NP_005117 Q14995 NR1D2_HUMAN nuclear receptor subfamily 1, group D, member 2 269 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 22 TATGTATAATCAAGAGCAGCA 0.423000 12 50 0 0 0.119110 0 0 PEBP4 157310 broad.mit.edu 37 8 22570973 22570973 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr8:22570973C>G ENST00000256404.6 - 7 685 c.594G>C c.(592-594)caG>caC p.Q198H RP11-459E5.1_ENST00000523627.1_RNA NM_144962.2 NP_659399.2 Q96S96 PEBP4_HUMAN phosphatidylethanolamine-binding protein 4 198 lysosome breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2) 10 Prostate(55;0.0453)|Breast(100;0.103) Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124) CCTGGTAGTTCTGGGTCATGA 0.557000 8 18 0 0 0.278610 0 0 PCDHA12 56137 broad.mit.edu 37 5 140257094 140257094 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:140257094G>A ENST00000398631.2 + 1 2037 c.2037G>A c.(2035-2037)tcG>tcA p.S679S PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron NM_018903.2|NM_031864.2 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAAAGACGTCGTCGCGGGCCT 0.657000 3 37 0 0 0.115264 0 0 OR5H1 26341 broad.mit.edu 37 3 97852160 97852160 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:97852160C>G ENST00000354565.2 + 1 619 c.619C>G c.(619-621)Cag>Gag p.Q207E RP11-343D2.11_ENST00000508964.1_RNA NM_001005338.1 NP_001005338.1 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, member 1 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 AGGTTCAATTCAGGTATTCAG 0.313000 6 33 0 0 0.248553 0 0 KCNT1 57582 broad.mit.edu 37 9 138650273 138650273 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr9:138650273G>A ENST00000298480.5 + 10 847 c.773G>A c.(772-774)cGt>cAt p.R258H KCNT1_ENST00000488444.2_Missense_Mutation_p.R239H|KCNT1_ENST00000490355.2_Missense_Mutation_p.R239H|KCNT1_ENST00000486577.2_Missense_Mutation_p.R219H|KCNT1_ENST00000487664.1_Missense_Mutation_p.R210H|KCNT1_ENST00000491806.2_Missense_Mutation_p.R225H|KCNT1_ENST00000263604.3_Missense_Mutation_p.R239H|KCNT1_ENST00000371757.2_Missense_Mutation_p.R258H B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 258 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) GACTTCCACCGTGCCATCCTG 0.587000 17 81 0 0 0.249174 0 0 LRRC8D 55144 broad.mit.edu 37 1 90400866 90400866 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:90400866G>C ENST00000337338.5 + 3 2646 c.2239G>C c.(2239-2241)Gaa>Caa p.E747Q LRRC8D_ENST00000394593.3_Missense_Mutation_p.E747Q NM_001134479.1 NP_001127951.1 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member D 747 integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1) 29 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) GATTCCAATAGAAATAGGATT 0.373000 19 73 0 0 0.189662 0 0 PPAP2A 8611 broad.mit.edu 37 5 54721117 54721117 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:54721117C>G ENST00000307259.8 - 6 1192 c.772G>C c.(772-774)Gaa>Caa p.E258Q PPAP2A_ENST00000264775.5_Missense_Mutation_p.E259Q|SKIV2L2_ENST00000230640.5_3'UTR NM_003711.2 NP_003702.2 O14494 LPP1_HUMAN phosphatidic acid phosphatase type 2A 258 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process integral to plasma membrane|membrane fraction phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1) 9 Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544) TCTTTTCTTTCTTTAAAAGAA 0.378000 6 39 0 0 0.278610 0 0 ASPRV1 151516 broad.mit.edu 37 2 70188460 70188460 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:70188460C>G ENST00000320256.4 - 1 937 c.361G>C c.(361-363)Gaa>Caa p.E121Q NM_152792.2 NP_690005.2 Q53RT3 APRV1_HUMAN aspartic peptidase, retroviral-like 1 121 protein maturation by peptide bond cleavage|skin development aspartic-type endopeptidase activity endometrium(3)|large_intestine(4)|lung(6)|ovary(1) 14 TTGATGACTTCAAAGCTGTGC 0.562000 13 54 0 0 0.132662 0 0 USP6 9098 broad.mit.edu 37 17 5041507 5041507 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:5041507C>T ENST00000574788.1 + 21 3247 c.1017C>T c.(1015-1017)ctC>ctT p.L339L USP6_ENST00000332776.4_Silent_p.L339L|USP6_ENST00000250066.6_Silent_p.L339L|USP6_ENST00000304328.5_5'UTR P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 339 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 ACACCGTGCTCAAGCATCTTA 0.577000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 30 93 0 0 0.396831 0 0 MYT1L 23040 broad.mit.edu 37 2 1914104 1914104 + Silent SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:1914104C>G ENST00000399161.2 - 13 2472 c.1725G>C c.(1723-1725)ccG>ccC p.P575P MYT1L_ENST00000428368.2_Silent_p.P573P NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 575 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CTGCAGCGATCGGGCATCCGG 0.587000 22 51 0 0 0.279207 0 0 IRAK4 51135 broad.mit.edu 37 12 44176171 44176171 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:44176171G>C ENST00000431837.1 + 8 939 c.631G>C c.(631-633)Gct>Cct p.A211P IRAK4_ENST00000551736.1_Missense_Mutation_p.A335P|IRAK4_ENST00000440781.2_Missense_Mutation_p.A211P|IRAK4_ENST00000448290.2_Missense_Mutation_p.A335P NM_001145256.1|NM_001145257.1 NP_001138728.1|NP_001138729.1 Q9NWZ3 IRAK4_HUMAN interleukin-1 receptor-associated kinase 4 335 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity all_cancers(12;0.00149) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.04) CCTTGCACGGGCTTCTGAGAA 0.388000 16 41 0 0 0.204396 0 0 MAP3K4 4216 broad.mit.edu 37 6 161527697 161527697 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:161527697G>C ENST00000392142.4 + 20 4156 c.4008G>C c.(4006-4008)ttG>ttC p.L1336F MAP3K4_ENST00000348824.7_Missense_Mutation_p.L1282F|MAP3K4_ENST00000366919.2_Missense_Mutation_p.L1286F|MAP3K4_ENST00000366920.2_Missense_Mutation_p.L1332F NM_005922.2 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1336 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) ACGTTGGCTTGAGGAAGGTGA 0.378000 38 50 0 0 0.323286 0 0 SMARCB1 6598 broad.mit.edu 37 22 24175882 24175882 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr22:24175882G>T ENST00000344921.6 + 8 1344 c.1137G>T c.(1135-1137)agG>agT p.R379S SMARCB1_ENST00000263121.7_Missense_Mutation_p.R370S|SMARCB1_ENST00000407422.3_Missense_Mutation_p.R361S|SMARCB1_ENST00000407082.3_Missense_Mutation_p.R324S Q12824 SNF5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 370 cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex p53 binding p.?(2)|p.L266_*386del(1) bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194) 458 Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05) ACCAGGACAGGAACACGAGGT 0.622000 """D, N, F, S""" malignant rhabdoid malignant rhabdoid 17 38 1.15919e-05 1.20197e-05 0.204396 1 0 ZRSR1 7310 broad.mit.edu 37 5 112227372 112227372 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:112227372G>C ENST00000391338.1 + 1 60 c.36G>C c.(34-36)aaG>aaC p.K12N REEP5_ENST00000513339.1_Intron|CTC-487M23.8_ENST00000506997.1_3'UTR|CTC-487M23.8_ENST00000512790.1_3'UTR|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000545426.1_Intron NM_001204199.1 NP_001191128.1 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1 breast(1)|skin(1)|stomach(2) 4 TTCCCAAGAAGATGACATTTC 0.478000 4 11 0 0 0.150653 0 0 MEGF10 84466 broad.mit.edu 37 5 126771180 126771180 + Splice_Site SNP A A G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:126771180A>G ENST00000274473.6 + 17 2370 c.2103A>G c.(2101-2103)caA>caG p.Q701Q MEGF10_ENST00000503335.2_Splice_Site_p.Q701Q NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 701 Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) ACTGCTCTCAACGTAAGTCTT 0.378000 7 35 0 0 0.307466 0 0 CCDC171 203238 broad.mit.edu 37 9 15623317 15623317 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr9:15623317C>G ENST00000380701.3 + 7 1056 c.728C>G c.(727-729)aCa>aGa p.T243R CCDC171_ENST00000535968.1_Missense_Mutation_p.T243R|CCDC171_ENST00000297641.3_Missense_Mutation_p.T243R NM_173550.2 NP_775821.2 Q6TFL3 CI093_HUMAN coiled-coil domain containing 171 243 Glu-rich. AAATTAGAAACAGAACATATG 0.348000 15 72 0 0 0.175082 0 0 SORCS3 22986 broad.mit.edu 37 10 107007054 107007054 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:107007054G>C ENST00000369701.3 + 22 3297 c.3070G>C c.(3070-3072)Gat>Cat p.D1024H SORCS3_ENST00000369699.4_3'UTR NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 1024 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GTGGAGAAAAGATATTGGCAA 0.383000 24 46 0 0 0.382532 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43919692 43919692 + Nonsense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:43919692C>T ENST00000282406.4 + 4 336 c.226C>T c.(226-228)Caa>Taa p.Q76* NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 76 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AGCTAATATTCAAACCAGTGA 0.308000 18 109 0 0 0.234183 0 0 MALAT1 378938 broad.mit.edu 37 11 65273757 65273757 + RNA SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:65273757G>C ENST00000534336.1 + 0 8525 NR_002819.2 CAATATCTTTGAACTATATAC 0.378000 11 34 0 0 0.146539 0 0 DNMT1 1786 broad.mit.edu 37 19 10287981 10287981 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:10287981G>C ENST00000340748.4 - 5 743 c.508C>G c.(508-510)Cat>Gat p.H170D DNMT1_ENST00000540357.1_Missense_Mutation_p.H170D|DNMT1_ENST00000359526.4_Missense_Mutation_p.H186D P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 170 Interaction with DNMT3B.|Interaction with PCNA.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) TTTGCAAAATGAGATGTGATG 0.438000 7 36 0 0 0.335167 0 0 SLC14A2 8170 broad.mit.edu 37 18 43206949 43206949 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr18:43206949G>C ENST00000255226.6 + 4 1174 c.358G>C c.(358-360)Gac>Cac p.D120H SLC14A2_ENST00000586448.1_Missense_Mutation_p.D120H NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 120 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCAGTTCATAGACTGGGTCCT 0.557000 18 78 0 0 0.234183 0 0 MALAT1 378938 broad.mit.edu 37 11 65273364 65273364 + RNA SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:65273364G>T ENST00000534336.1 + 0 8132 NR_002819.2 ATAGGCATTTGAGTGGCTGAG 0.423000 28 70 2.68265e-12 2.90415e-12 0.173368 1 0 CUX1 1523 broad.mit.edu 37 7 101923386 101923386 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:101923386G>C ENST00000437600.4 + 19 2084 c.1732G>C c.(1732-1734)Gac>Cac p.D578H CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000393824.3_Missense_Mutation_p.D541H|CUX1_ENST00000292538.4_Missense_Mutation_p.D580H|CUX1_ENST00000425244.2_Missense_Mutation_p.D534H|CUX1_ENST00000547394.2_Missense_Mutation_p.D564H NM_181500.2 NP_852477.1 P39880 CUX1_HUMAN cut-like homeobox 1 169 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 GGAGCGCCTGGACCCCTTCTC 0.662000 22 56 0 0 0.309145 0 0 HIST1H1C 3006 broad.mit.edu 37 6 26056443 26056443 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:26056443C>G ENST00000343677.2 - 1 256 c.214G>C c.(214-216)Gat>Cat p.D72H NM_005319.3 NP_005310.1 P16403 H12_HUMAN histone cluster 1, H1c 72 H15. nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 34 TTCTCCACATCATAGCCGGCG 0.557000 18 87 0 0 0.219247 0 0 KCNN3 3782 broad.mit.edu 37 1 154841844 154841844 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:154841844G>C ENST00000271915.4 - 1 912 c.597C>G c.(595-597)atC>atG p.I199M NM_001204087.1|NM_002249.5 NP_001191016.1|NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) TCTCGGCCTCGATGAGGTTCC 0.637000 7 61 0 0 0.307466 0 0 CLYBL 171425 broad.mit.edu 37 13 100523272 100523272 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr13:100523272G>A ENST00000376355.3 + 6 812 c.781G>A c.(781-783)Gaa>Aaa p.E261K CLYBL_ENST00000376360.1_Missense_Mutation_p.E295K|CLYBL_ENST00000339105.4_Missense_Mutation_p.E295K|CLYBL_ENST00000376354.1_Missense_Mutation_p.E261K|CLYBL_ENST00000444838.2_Missense_Mutation_p.E261K NM_206808.2 NP_996531.1 Q8N0X4 CLYBL_HUMAN citrate lyase beta like 295 cellular aromatic compound metabolic process citrate lyase complex|mitochondrion citrate (pro-3S)-lyase activity|metal ion binding p.E295*(1) NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2) 25 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TAAGTGGGCTGAAGAACTGAT 0.393000 22 69 0 0 0.279207 0 0 REN 5972 broad.mit.edu 37 1 204135397 204135397 + Missense_Mutation SNP G G A rs115181548 by1000genomes TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:204135397G>A ENST00000367195.2 - 1 68 c.25C>T c.(25-27)Cgc>Tgc p.R9C REN_ENST00000272190.8_Missense_Mutation_p.R9C P00797 RENI_HUMAN renin 9 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1) 19 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) AGTCCCCAGCGAGGCATCCTT 0.557000 13 78 0 0 0.132662 0 0 CAPG 822 broad.mit.edu 37 2 85625233 85625233 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:85625233C>T ENST00000263867.4 - 8 1051 c.802G>A c.(802-804)Gac>Aac p.D268N CAPG_ENST00000483659.1_5'UTR|CAPG_ENST00000409921.1_Missense_Mutation_p.D253N|CAPG_ENST00000409670.1_Missense_Mutation_p.D268N|CAPG_ENST00000409724.1_Missense_Mutation_p.D268N NM_001256140.1|NM_001747.3 NP_001243069.1|NP_001738.2 P40121 CAPG_HUMAN capping protein (actin filament), gelsolin-like 268 barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6) 11 GGGCTGGAGTCAGCCACCTTG 0.567000 22 101 0 0 0.323286 0 0 KIF3B 9371 broad.mit.edu 37 20 30897849 30897849 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr20:30897849G>A ENST00000375712.3 + 2 436 c.269G>A c.(268-270)gGa>gAa p.G90E NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 90 Kinesin-motor. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGTTTCAATGGAACCATTTTT 0.453000 35 78 0 0 0.279185 0 0 INF2 64423 broad.mit.edu 37 14 105172458 105172458 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:105172458C>G ENST00000392634.4 + 6 900 c.788C>G c.(787-789)tCt>tGt p.S263C INF2_ENST00000330634.7_Missense_Mutation_p.S263C NM_022489.3 NP_071934.3 Q27J81 INF2_HUMAN inverted formin, FH2 and WH2 domain containing 263 GBD/FH3. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) CTGCGAGTCTCTGGCGGGGTC 0.672000 8 14 0 0 0.335167 0 0 IGDCC4 57722 broad.mit.edu 37 15 65693281 65693281 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:65693281G>A ENST00000352385.2 - 5 913 c.704C>T c.(703-705)tCc>tTc p.S235F NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 235 integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 GGACGCCAGGGACCCTGGCGA 0.592000 OREG0023196 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 62 0 0 0.410975 0 0 S1PR3 1903 broad.mit.edu 37 9 91617099 91617099 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr9:91617099C>T ENST00000375846.3 + 1 5679 c.984C>T c.(982-984)atC>atT p.I328I S1PR3_ENST00000358157.2_Silent_p.I328I Q99500 S1PR3_HUMAN sphingosine-1-phosphate receptor 3 328 anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1) 34 CCTCACCCATCCAGCCTGCGC 0.627000 18 27 0 0 0.234183 0 0 MSTN 2660 broad.mit.edu 37 2 190927191 190927191 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:190927191C>A ENST00000260950.4 - 1 264 c.132G>T c.(130-132)tgG>tgT p.W44C C2orf88_ENST00000478197.1_Intron NM_005259.2 NP_005250.1 O14793 GDF8_HUMAN myostatin 44 muscle organ development|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395) TGTTTTGTCTCCAAGTACATG 0.378000 29 202 5.71845e-15 6.31814e-15 0.225048 1 0 PCDH8 5100 broad.mit.edu 37 13 53419572 53419572 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr13:53419572G>C ENST00000377942.3 - 2 3030 c.2827C>G c.(2827-2829)Cac>Gac p.H943D PCDH8_ENST00000338862.4_Missense_Mutation_p.H846D NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 943 cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CTCTGCATGTGGTTGATGAGA 0.532000 29 39 0 0 0.173368 0 0 B4GALNT3 283358 broad.mit.edu 37 12 660168 660168 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:660168C>T ENST00000266383.5 + 11 1091 c.1078C>T c.(1078-1080)Cct>Tct p.P360S NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 360 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) GGATGGGCTTCCTCTGCAGCG 0.607000 31 69 0 0 0.225048 0 0 CACNA1G 8913 broad.mit.edu 37 17 48655779 48655779 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:48655779G>C ENST00000352832.5 + 9 2527 c.2155G>C c.(2155-2157)Gat>Cat p.D719H CACNA1G_ENST00000502264.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.D719H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.D719H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.D719H|CACNA1G_ENST00000416767.4_Missense_Mutation_p.D719H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.D719H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000359106.5_Missense_Mutation_p.D719H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.D719H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.D719H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.D719H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.D719H NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 719 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CCTGGGCCCAGATGCAGAGCC 0.602000 17 61 0 0 0.146539 0 0 NTRK3 4916 broad.mit.edu 37 15 88576243 88576243 + Nonsense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:88576243G>C ENST00000394480.2 - 14 1751 c.1430C>G c.(1429-1431)tCa>tGa p.S477* NTRK3_ENST00000557856.1_Nonsense_Mutation_p.S469*|NTRK3_ENST00000558676.1_Nonsense_Mutation_p.S469*|NTRK3_ENST00000542733.2_Nonsense_Mutation_p.S379*|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000355254.2_Nonsense_Mutation_p.S477*|NTRK3_ENST00000540489.2_Nonsense_Mutation_p.S477*|NTRK3_ENST00000357724.2_Nonsense_Mutation_p.S469*|NTRK3_ENST00000360948.2_Nonsense_Mutation_p.S477*|NTRK3_ENST00000317501.3_Nonsense_Mutation_p.S477* NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) TGGGCTGGCTGAGTCCTCCTC 0.622000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 5 12 0 0 0.184627 0 0 ARID4A 5926 broad.mit.edu 37 14 58831818 58831818 + Nonsense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:58831818C>G ENST00000355431.3 + 20 3384 c.3011C>G c.(3010-3012)tCa>tGa p.S1004* ARID4A_ENST00000395168.3_Nonsense_Mutation_p.S1004*|ARID4A_ENST00000431317.2_Nonsense_Mutation_p.S1004*|ARID4A_ENST00000348476.3_Nonsense_Mutation_p.S1004* NM_002892.3 NP_002883.3 P29374 ARI4A_HUMAN AT rich interactive domain 4A (RBP1-like) 1004 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 CATAACTTTTCAGTAGCTTCA 0.403000 19 170 0 0 0.219247 0 0 CBL 867 broad.mit.edu 37 11 119167741 119167741 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:119167741C>T ENST00000264033.4 + 13 2526 c.2150C>T c.(2149-2151)tCa>tTa p.S717L NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 717 Asp/Glu-rich (acidic).|Interaction with CD2AP. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) TCCCAGAGTTCACGGTAGGTT 0.507000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 40 71 0 0 0.323286 0 0 GMPPB 29925 broad.mit.edu 37 3 49759447 49759447 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:49759447G>A ENST00000480687.1 - 9 1018 c.902C>T c.(901-903)tCc>tTc p.S301F GMPPB_ENST00000308388.6_Missense_Mutation_p.S301F|GMPPB_ENST00000308375.6_Missense_Mutation_p.S301F|AMIGO3_ENST00000535833.1_5'UTR Q9Y5P6 GMPPB_HUMAN GDP-mannose pyrophosphorylase B 301 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CTCAAGCCAGGAATGGGAACG 0.667000 12 114 0 0 0.175082 0 0 NBPF10 100132406 broad.mit.edu 37 1 145301812 145301812 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:145301812G>A ENST00000342960.5 + 7 1116 c.1081G>A c.(1081-1083)Gag>Aag p.E361K NBPF10_ENST00000369339.3_Missense_Mutation_p.E90K|NBPF10_ENST00000369338.1_Missense_Mutation_p.E90K|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 361 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CAAGCAAGCTGAGGAGCTCAG 0.522000 13 231 0 0 0.294199 0 0 HEATR6 63897 broad.mit.edu 37 17 58156241 58156241 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:58156241G>A ENST00000184956.6 - 1 51 c.35C>T c.(34-36)tCc>tTc p.S12F HEATR6_ENST00000585976.1_Missense_Mutation_p.S12F|HEATR6_ENST00000585712.1_5'UTR NM_022070.4 NP_071353.4 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 12 binding NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) CGGCTGCACGGAAGGCCACGA 0.652000 4 26 0 0 0.184627 0 0 NR1D1 9572 broad.mit.edu 37 17 38253600 38253600 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:38253600C>G ENST00000246672.3 - 2 718 c.88G>C c.(88-90)Gaa>Caa p.E30Q NM_021724.3 NP_068370.1 P20393 NR1D1_HUMAN nuclear receptor subfamily 1, group D, member 1 30 cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2) 11 Colorectal(19;0.000442) TAGAGGGATTCAGGGCTGGTG 0.587000 17 22 0 0 0.219247 0 0 AMIGO3 386724 broad.mit.edu 37 3 49756782 49756782 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:49756782G>C ENST00000535833.1 - 10 3567 c.117C>G c.(115-117)atC>atG p.I39M AMIGO3_ENST00000320431.7_Missense_Mutation_p.I39M|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_Intron|GMPPB_ENST00000480687.1_3'UTR Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 39 LRRNT. heterophilic cell-cell adhesion integral to membrane endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CGGCAGCGCAGATACATTTGT 0.652000 OREG0015572 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 144 0 0 0.279207 0 0 ZNF672 79894 broad.mit.edu 37 1 249142668 249142668 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:249142668G>C ENST00000306562.3 + 4 1941 c.1195G>C c.(1195-1197)Gag>Cag p.E399Q NM_024836.1 NP_079112.1 Q499Z4 ZN672_HUMAN zinc finger protein 672 399 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(1) 5 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) GGAGTGCGCAGAGTGCGGCAA 0.682000 6 10 0 0 0.217242 0 0 CHD2 1106 broad.mit.edu 37 15 93558002 93558002 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:93558002C>G ENST00000394196.4 + 37 5837 c.4769C>G c.(4768-4770)tCt>tGt p.S1590C CHD2_ENST00000557381.1_Missense_Mutation_p.S1590C NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1590 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AGCCGGGACTCTCTGATATCT 0.512000 57 102 0 0 0.323286 0 0 KRT12 3859 broad.mit.edu 37 17 39017933 39017933 + Nonsense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:39017933C>A ENST00000251643.4 - 8 1488 c.1465G>T c.(1465-1467)Gaa>Taa p.E489* RP5-1110E20.1_ENST00000579136.1_RNA NM_000223.3 NP_000214.1 Q99456 K1C12_HUMAN keratin 12 489 Tail. visual perception intermediate filament structural molecule activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) TCTTCAATTTCCTGAACTTGA 0.368000 11 65 6.31663e-08 6.65502e-08 0.132662 1 0 ZNF549 256051 broad.mit.edu 37 19 58048854 58048854 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:58048854G>A ENST00000376233.3 + 4 663 c.482G>A c.(481-483)aGa>aAa p.R161K ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.R148K|ZNF549_ENST00000594943.1_Intron NM_001199295.1 NP_001186224 Q6P9A3 ZN549_HUMAN zinc finger protein 549 161 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AAACACATCAGAAAGGAGGAG 0.453000 22 50 0 0 0.264190 0 0 CELSR3 1951 broad.mit.edu 37 3 48675652 48675652 + Nonsense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:48675652C>A ENST00000544264.1 - 36 10220 c.9940G>T c.(9940-9942)Gag>Tag p.E3314* CELSR3_ENST00000164024.4_Nonsense_Mutation_p.E3309* Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 3309 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GAGTGACCCTCACTTCTGGGA 0.607000 21 55 6.00712e-18 6.75086e-18 0.410975 1 0 LRP10 26020 broad.mit.edu 37 14 23342569 23342569 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:23342569G>C ENST00000359591.4 + 3 820 c.129G>C c.(127-129)caG>caC p.Q43H LRP10_ENST00000546834.1_Missense_Mutation_p.Q43H NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 43 CUB 1. endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) GCACCTTACAGAGGCCCCTGG 0.602000 26 53 0 0 0.324025 0 0 TCHH 7062 broad.mit.edu 37 1 152081239 152081239 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:152081239C>G ENST00000368804.1 - 2 4453 c.4454G>C c.(4453-4455)aGa>aCa p.R1485T NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1485 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CAGGAATTTTCTGTCACGCTC 0.552000 44 147 0 0 0.323286 0 0 FBXO18 84893 broad.mit.edu 37 10 5945065 5945065 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:5945065C>A ENST00000379999.5 + 3 341 c.237C>A c.(235-237)ttC>ttA p.F79L FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_Intron|FBXO18_ENST00000362091.4_Missense_Mutation_p.F28L NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 28 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 CCCAGCCCTTCGGTCAAAGAT 0.488000 26 40 1.99505e-19 2.27236e-19 0.410975 1 0 TSPEAR 54084 broad.mit.edu 37 21 45948429 45948429 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr21:45948429C>T ENST00000323084.4 - 6 893 c.828G>A c.(826-828)ccG>ccA p.P276P TSPEAR_ENST00000397916.1_Silent_p.P208P NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 276 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 CCTCGGTACACGGTGGCTGGG 0.577000 27 25 0 0 0.324025 0 0 MST1R 4486 broad.mit.edu 37 3 49927421 49927421 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:49927421C>G ENST00000296474.3 - 19 3910 c.3883G>C c.(3883-3885)Gac>Cac p.D1295H MST1R_ENST00000344206.4_Missense_Mutation_p.D1246H NM_002447.2 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 1295 Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) TGGGTAAGGTCAAAAGGGTCA 0.602000 35 82 0 0 0.301197 0 0 DAG1 1605 broad.mit.edu 37 3 49568599 49568599 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:49568599G>A ENST00000545947.1 + 6 1377 c.655G>A c.(655-657)Gaa>Aaa p.E219K DAG1_ENST00000539901.1_Missense_Mutation_p.E219K|DAG1_ENST00000538711.1_Missense_Mutation_p.E219K|DAG1_ENST00000541308.1_Missense_Mutation_p.E219K|DAG1_ENST00000515359.2_Missense_Mutation_p.E219K|DAG1_ENST00000308775.2_Missense_Mutation_p.E219K NM_001177634.2 NP_001171105 Q14118 DAG1_HUMAN dystroglycan 1 (dystrophin-associated glycoprotein 1) 219 Required for laminin recognition. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) GAGCTTCTCAGAAGTAGAGCT 0.488000 20 45 0 0 0.279207 0 0 MALAT1 378938 broad.mit.edu 37 11 65272223 65272223 + RNA SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:65272223G>A ENST00000534336.1 + 0 6991 NR_002819.2 ACAGTTCAGTGATCTTTAGTG 0.413000 14 60 0 0 0.160694 0 0 HCFC1 3054 broad.mit.edu 37 X 153229678 153229678 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrX:153229678G>C ENST00000310441.7 - 3 1366 c.400C>G c.(400-402)Ccg>Gcg p.P134A HCFC1_ENST00000369984.4_Missense_Mutation_p.P134A|HCFC1_ENST00000354233.3_Missense_Mutation_p.P134A NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 134 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGAGGACACGGAGGGGGCCCG 0.562000 56 38 0 0 0.323286 0 0 CDKL1 8814 broad.mit.edu 37 14 50825768 50825768 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:50825768C>T ENST00000216378.2 - 3 915 c.271G>A c.(271-273)Gag>Aag p.E91K CDKL1_ENST00000395834.1_Missense_Mutation_p.E91K|CDKL1_ENST00000356146.1_5'UTR NM_001282236.1 NP_001269165.1 Q00532 CDKL1_HUMAN cyclin-dependent kinase-like 1 (CDC2-related kinase) 90 Protein kinase. cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1) 12 all_epithelial(31;0.000746)|Breast(41;0.0102) CTGTCCAACTCATGGAGAACT 0.453000 50 145 0 0 0.323286 0 0 EIF5B 9669 broad.mit.edu 37 2 100007070 100007070 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:100007070G>C ENST00000289371.6 + 17 2852 c.2650G>C c.(2650-2652)Gaa>Caa p.E884Q NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GCGTTTGAAGGAAGGAGATAC 0.448000 33 105 0 0 0.257332 0 0 SERPINH1 871 broad.mit.edu 37 11 75282943 75282943 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:75282943G>C ENST00000524558.1 + 5 2507 c.1072G>C c.(1072-1074)Gag>Cag p.E358Q SERPINH1_ENST00000358171.3_Missense_Mutation_p.E358Q|SERPINH1_ENST00000525876.1_Missense_Mutation_p.E141Q|SERPINH1_ENST00000533603.1_Missense_Mutation_p.E358Q P50454 SERPH_HUMAN serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 358 regulation of proteolysis|response to unfolded protein endoplasmic reticulum lumen|ER-Golgi intermediate compartment collagen binding|serine-type endopeptidase inhibitor activity endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1) 15 Ovarian(111;0.11) CACCGCCTTTGAGTTGGACAC 0.597000 17 27 0 0 0.249174 0 0 DNAJC16 23341 broad.mit.edu 37 1 15892682 15892682 + Silent SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:15892682C>G ENST00000375838.1 + 13 1949 c.1785C>G c.(1783-1785)ctC>ctG p.L595L DNAJC16_ENST00000375849.1_Intron|DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375847.3_Intron Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 0 cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1) 18 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) GCAGGTTTCTCTAACAAAACA 0.493000 3 22 0 0 0.115264 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21392046 21392046 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:21392046G>A ENST00000256958.2 + 15 2095 c.1999G>A c.(1999-2001)Gaa>Aaa p.E667K NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 667 E -> G (in dbSNP:rs55737008). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) TGTCATGGATGAAGCAAACTT 0.318000 8 28 0 0 0.278610 0 0 BRAT1 221927 broad.mit.edu 37 7 2579517 2579517 + Silent SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:2579517C>G ENST00000340611.4 - 11 1657 c.1401G>C c.(1399-1401)ctG>ctC p.L467L BRAT1_ENST00000473879.1_5'UTR NM_152743.3 NP_689956.2 Q6PJG6 BRAT1_HUMAN BRCA1-associated ATM activator 1 467 response to ionizing radiation nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 AGGCCTTCTTCAGAACCTGGA 0.652000 4 5 0 0 0.217242 0 0 RGAG1 57529 broad.mit.edu 37 X 109695851 109695851 + Missense_Mutation SNP C C T rs148619359 TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrX:109695851C>T ENST00000465301.2 + 3 2252 c.2006C>T c.(2005-2007)tCg>tTg p.S669L RGAG1_ENST00000540313.1_Missense_Mutation_p.S669L NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 669 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 TTGTCTGCATCGCTAATGAGA 0.512000 13 32 0 0 0.119110 0 0 CD28 940 broad.mit.edu 37 2 204571328 204571328 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:204571328C>G ENST00000458610.2 + 1 82 c.82C>G c.(82-84)Cag>Gag p.Q28E CD28_ENST00000374481.3_5'UTR|CD28_ENST00000324106.8_5'UTR P10747 CD28_HUMAN CD28 molecule 14 Ig-like V-type. cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction cytosol|external side of plasma membrane|integral to plasma membrane coreceptor activity|protease binding|SH3/SH2 adaptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 CGGAGACTCTCAGGCCTTGGC 0.592000 4 23 0 0 0.150653 0 0 SF3B2 10992 broad.mit.edu 37 11 65824372 65824372 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:65824372C>T ENST00000528302.1 + 5 616 c.562C>T c.(562-564)Cgg>Tgg p.R188W SF3B2_ENST00000322535.6_Missense_Mutation_p.R205W Q13435 SF3B2_HUMAN splicing factor 3b, subunit 2, 145kDa 205 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 CCCAGTCCCTCGGCCCCCACA 0.587000 17 66 0 0 0.234183 0 0 PALD1 27143 broad.mit.edu 37 10 72324122 72324122 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:72324122G>A ENST00000263563.6 + 19 2533 c.2265G>A c.(2263-2265)gcG>gcA p.A755A NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 TCCTCCAGGCGAAGGCAGCGA 0.617000 30 56 0 0 0.214465 0 0 GNB1L 54584 broad.mit.edu 37 22 19808787 19808787 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr22:19808787C>G ENST00000329517.6 - 3 328 c.92G>C c.(91-93)gGa>gCa p.G31A GNB1L_ENST00000403325.1_Missense_Mutation_p.G31A|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000405009.1_Missense_Mutation_p.G31A NM_053004.2 NP_443730.1 Q9BYB4 GNB1L_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 1-like 31 G-protein coupled receptor protein signaling pathway|intracellular signal transduction internal side of plasma membrane|intracellular breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 12 Colorectal(54;0.0993) AGCCTGGGCTCCTTCGCAGAA 0.687000 18 71 0 0 0.204396 0 0 COL17A1 1308 broad.mit.edu 37 10 105819447 105819447 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:105819447C>G ENST00000353479.5 - 15 1461 c.1171G>C c.(1171-1173)Gaa>Caa p.E391Q COL17A1_ENST00000393211.3_Missense_Mutation_p.E391Q|COL17A1_ENST00000369733.3_Missense_Mutation_p.E391Q NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 391 Nonhelical region (NC16). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GCTTGCTTTTCTTTTTTTAGG 0.438000 19 38 0 0 0.249174 0 0 GDPD4 220032 broad.mit.edu 37 11 76980082 76980082 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:76980082G>A ENST00000315938.4 - 8 761 c.511C>T c.(511-513)Ctt>Ttt p.L171F GDPD4_ENST00000376217.2_Missense_Mutation_p.L171F NM_182833.1 NP_878253.1 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain containing 4 171 glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 20 AAAAGGATAAGAAGAAAGGGT 0.438000 7 38 0 0 0.278610 0 0 KMT2C 58508 broad.mit.edu 37 7 151945439 151945439 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:151945439G>A ENST00000355193.2 - 14 2298 c.2080C>T c.(2080-2082)Ctt>Ttt p.L694F KMT2C_ENST00000262189.6_Missense_Mutation_p.L694F lysine (K)-specific methyltransferase 2C TCTAGTGGAAGAGTGACAGAT 0.423000 5 40 0 0 0.184627 0 0 WDR36 134430 broad.mit.edu 37 5 110428137 110428137 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:110428137G>C ENST00000506538.2 + 1 724 c.151G>C c.(151-153)Gct>Cct p.A51P WDR36_ENST00000513710.2_Missense_Mutation_p.A51P|WDR36_ENST00000505303.1_5'UTR NM_139281.2 NP_644810.1 Q8NI36 WDR36_HUMAN WD repeat domain 36 51 response to stimulus|rRNA processing|visual perception small-subunit processome cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) GCTGAGAGGAGCTGGGATCGC 0.602000 7 48 0 0 0.361761 0 0 HAUS5 23354 broad.mit.edu 37 19 36108218 36108218 + Silent SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:36108218G>T ENST00000203166.5 + 8 610 c.585G>T c.(583-585)cgG>cgT p.R195R HAUS5_ENST00000379045.2_Silent_p.R195R NM_015302.1 NP_056117.1 O94927 HAUS5_HUMAN HAUS augmin-like complex, subunit 5 195 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2) 16 GCACCCTCCGGGCCCAGTTCC 0.632000 35 52 2.64894e-19 3.01132e-19 0.323286 1 0 ADCY1 107 broad.mit.edu 37 7 45743204 45743204 + Silent SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:45743204C>G ENST00000297323.7 + 16 2599 c.2577C>G c.(2575-2577)ctC>ctG p.L859L NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 859 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) TCCAGGACCTCTACTACCAGT 0.582000 24 70 0 0 0.294199 0 0 MSTN 2660 broad.mit.edu 37 2 190925004 190925004 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:190925004G>C ENST00000260950.4 - 2 663 c.531C>G c.(529-531)atC>atG p.I177M C2orf88_ENST00000478197.1_Intron NM_005259.2 NP_005250.1 O14793 GDF8_HUMAN myostatin 177 muscle organ development|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395) TCATAGGTTTGATGAGTCTCA 0.413000 11 228 0 0 0.093190 0 0 SLC24A2 25769 broad.mit.edu 37 9 19521029 19521029 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr9:19521029C>G ENST00000341998.2 - 9 1660 c.1599G>C c.(1597-1599)gaG>gaC p.E533D SLC24A2_ENST00000286344.3_Missense_Mutation_p.E516D NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 533 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) GGCCCATAATCTCTTCACTGA 0.448000 14 17 0 0 0.189662 0 0 MPHOSPH8 54737 broad.mit.edu 37 13 20242605 20242605 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr13:20242605C>G ENST00000361479.5 + 11 2331 c.2263C>G c.(2263-2265)Cga>Gga p.R755G MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.R755G NM_017520.3 NP_059990.2 Q99549 MPP8_HUMAN M-phase phosphoprotein 8 755 cell cycle cytoplasm|nucleus breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) CGCATGTCATCGACTCTGTGA 0.413000 10 32 0 0 0.335167 0 0 EFHB 151651 broad.mit.edu 37 3 19925987 19925987 + Missense_Mutation SNP C C T rs142916632 byFrequency TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:19925987C>T ENST00000295824.9 - 11 2215 c.2054G>A c.(2053-2055)cGg>cAg p.R685Q EFHB_ENST00000344838.4_Missense_Mutation_p.R555Q NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 685 R -> W (in Ref. 1; BAC85491). signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 CAGAAGTGTCCGGAGAGTCTT 0.398000 13 32 0 0 0.146539 0 0 PLEC 5339 broad.mit.edu 37 8 144999683 144999683 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr8:144999683C>T ENST00000322810.4 - 31 4994 c.4825G>A c.(4825-4827)Gag>Aag p.E1609K PLEC_ENST00000436759.2_Missense_Mutation_p.E1499K|PLEC_ENST00000345136.3_Missense_Mutation_p.E1472K|PLEC_ENST00000398774.2_Missense_Mutation_p.E1440K|PLEC_ENST00000357649.2_Missense_Mutation_p.E1476K|PLEC_ENST00000354958.2_Missense_Mutation_p.E1450K|PLEC_ENST00000527096.1_Missense_Mutation_p.E1495K|PLEC_ENST00000356346.3_Missense_Mutation_p.E1458K|PLEC_ENST00000354589.3_Missense_Mutation_p.E1472K NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1609 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 AGCTCCCCCTCAGCCCCGCCA 0.721000 5 25 0 0 0.217242 0 0 NAV3 89795 broad.mit.edu 37 12 78400995 78400995 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:78400995G>A ENST00000397909.2 + 8 1850 c.1677G>A c.(1675-1677)ggG>ggA p.G559G NAV3_ENST00000228327.6_Silent_p.G559G|NAV3_ENST00000536525.2_Silent_p.G559G|NAV3_ENST00000266692.7_Silent_p.G559G Q8IVL0 NAV3_HUMAN neuron navigator 3 559 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CTACCAAGGGGAGCCCTTCCC 0.483000 HNSCC(70;0.22) 19 46 0 0 0.249174 0 0 PPAP2A 8611 broad.mit.edu 37 5 54737722 54737722 + Nonsense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:54737722G>C ENST00000307259.8 - 4 926 c.506C>G c.(505-507)tCa>tGa p.S169* PPAP2A_ENST00000264775.5_Nonsense_Mutation_p.S170* NM_003711.2 NP_003702.2 O14494 LPP1_HUMAN phosphatidic acid phosphatase type 2A 169 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process integral to plasma membrane|membrane fraction phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1) 9 Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544) AGAGTGGCCTGAATAGAAGGA 0.393000 26 45 0 0 0.368089 0 0 TTC3 7267 broad.mit.edu 37 21 38463619 38463619 + Silent SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr21:38463619G>C ENST00000399017.2 + 7 3254 c.507G>C c.(505-507)ctG>ctC p.L169L TTC3_ENST00000354749.2_Silent_p.L169L|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000399010.1_Silent_p.L169L|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Silent_p.L169L NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 169 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) AAGAAGCTCTGAATTGGATAA 0.308000 11 68 0 0 0.119110 0 0 SLC23A3 151295 broad.mit.edu 37 2 220033453 220033453 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:220033453G>A ENST00000455516.2 - 5 666 c.619C>T c.(619-621)Ccc>Tcc p.P207S SLC23A3_ENST00000396775.3_Intron|SLC23A3_ENST00000295738.7_Missense_Mutation_p.P199S|SLC23A3_ENST00000409878.3_Missense_Mutation_p.P199S NM_001144890.1 NP_001138362.1 Q6PIS1 S23A3_HUMAN solute carrier family 23, member 3 199 transmembrane transport integral to membrane protein binding|transporter activity endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 11 Renal(207;0.0474) Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACCAGGCTGGGAGCCAGCACC 0.662000 4 15 0 0 0.184627 0 0 USP4 7375 broad.mit.edu 37 3 49362462 49362462 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:49362462C>A ENST00000351842.4 - 5 506 c.498G>T c.(496-498)gaG>gaT p.E166D USP4_ENST00000415188.1_Missense_Mutation_p.E166D|USP4_ENST00000416417.1_Missense_Mutation_p.E166D|USP4_ENST00000265560.4_Missense_Mutation_p.E166D NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 166 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) GCATCTCTTTCTCGATGGTTG 0.478000 21 131 3.73808e-20 4.28246e-20 0.324025 1 0 FIGF 2277 broad.mit.edu 37 X 15371214 15371214 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrX:15371214C>T ENST00000297904.3 - 5 1147 c.718G>A c.(718-720)Gaa>Aaa p.E240K NM_004469.4 NP_004460.1 O43915 VEGFD_HUMAN c-fos induced growth factor (vascular endothelial growth factor D) 240 4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C. angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 17 Hepatocellular(33;0.183) AGTGGATTTTCCTCCTGCAAA 0.353000 14 35 0 0 0.204396 0 0 EIF5B 9669 broad.mit.edu 37 2 100006708 100006708 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:100006708G>C ENST00000289371.6 + 16 2632 c.2430G>C c.(2428-2430)gaG>gaC p.E810D NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TGTTTTATGAGAATAAAGATC 0.428000 70 178 0 0 0.323286 0 0 TRIP11 9321 broad.mit.edu 37 14 92471718 92471718 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:92471718C>G ENST00000267622.4 - 11 2975 c.2602G>C c.(2602-2604)Gaa>Caa p.E868Q NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 868 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) CGTTCCAATTCTTCTTGCAGA 0.418000 T PDGFRB AML 24 68 0 0 0.309145 0 0 ARAP1 116985 broad.mit.edu 37 11 72437906 72437906 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:72437906G>A ENST00000359373.5 - 3 1119 c.268C>T c.(268-270)Cgc>Tgc p.R90C ARAP1_ENST00000393609.3_Missense_Mutation_p.R90C|ARAP1_ENST00000455638.2_Missense_Mutation_p.R90C Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 90 actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 GGTGGTGAGCGGAAGATGTGG 0.726000 3 14 0 0 0.150653 0 0 HRC 3270 broad.mit.edu 37 19 49658154 49658154 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:49658154C>T ENST00000252825.4 - 1 527 c.341G>A c.(340-342)gGa>gAa p.G114E HRC_ENST00000595625.1_Missense_Mutation_p.G114E NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 114 4 X tandem repeats, acidic.|6 X approximate tandem repeats. muscle contraction sarcoplasmic reticulum lumen calcium ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) ACCCTCATCTCCGACTTTGTG 0.577000 7 73 0 0 0.307466 0 0 DIEXF 27042 broad.mit.edu 37 1 210014333 210014333 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:210014333C>G ENST00000491415.2 + 8 1475 c.1418C>G c.(1417-1419)tCt>tGt p.S473C NM_014388.6 NP_055203.4 Q68CQ4 DIEXF_HUMAN digestive organ expansion factor homolog (zebrafish) 473 multicellular organismal development nucleus breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2) 53 GACTTTCTGTCTTCTATCGAG 0.483000 24 96 0 0 0.309145 0 0 TNRC6B 23112 broad.mit.edu 37 22 40662821 40662821 + Nonsense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr22:40662821C>T ENST00000454349.2 + 5 2798 c.2587C>T c.(2587-2589)Cag>Tag p.Q863* TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.9_Nonsense_Mutation_p.Q863* NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 863 Pro-rich. gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 CAGCGGGCCACAGCCTGCAAC 0.582000 6 23 0 0 0.248553 0 0 ITGA4 3676 broad.mit.edu 37 2 182363467 182363467 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:182363467G>C ENST00000397033.2 + 15 2088 c.1658G>C c.(1657-1659)aGa>aCa p.R553T NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 553 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) GTGTCCAGCAGAGAAGCTAAC 0.383000 18 79 0 0 0.264190 0 0 SLC9A2 6549 broad.mit.edu 37 2 103322367 103322367 + Silent SNP A A G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:103322367A>G ENST00000233969.2 + 11 2182 c.2040A>G c.(2038-2040)ctA>ctG p.L680L NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 680 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 CAGAAAAGCTACAAAAGAGGA 0.303000 13 30 0 0 0.132662 0 0 SYNE2 23224 broad.mit.edu 37 14 64518876 64518876 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:64518876G>A ENST00000358025.3 + 48 8475 c.8245G>A c.(8245-8247)Gaa>Aaa p.E2749K SYNE2_ENST00000344113.4_Missense_Mutation_p.E2749K|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.E2782K NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2749 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) TTTGTTGGGTGAACTTAATCC 0.413000 61 199 0 0 0.323286 0 0 RBP3 5949 broad.mit.edu 37 10 48389845 48389845 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:48389845C>T ENST00000224600.4 - 1 1146 c.1033G>A c.(1033-1035)Gac>Aac p.D345N NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 345 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GGCACACGGTCCACCAGCGTG 0.637000 11 53 0 0 0.387290 0 0 PIWIL4 143689 broad.mit.edu 37 11 94316613 94316613 + Splice_Site SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:94316613G>A ENST00000299001.6 + 5 724 c.e5-1 RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA NM_152431.2 NP_689644.2 Q7Z3Z4 PIWL4_HUMAN piwi-like RNA-mediated gene silencing 4 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2) 30 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CTTTTTCCCAGGTCACAGAGT 0.418000 71 165 0 0 0.323286 0 0 FANCA 2175 broad.mit.edu 37 16 89807249 89807249 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:89807249G>T ENST00000389301.3 - 38 3821 c.3791C>A c.(3790-3792)tCc>tAc p.S1264Y FANCA_ENST00000568369.1_Missense_Mutation_p.S1264Y|ZNF276_ENST00000289816.5_3'UTR NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 1264 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) GCCCATCAAGGAGAAGAAGAA 0.453000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 18 22 1.2644e-06 1.32269e-06 0.219247 1 0 CXorf23 256643 broad.mit.edu 37 X 19973576 19973576 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrX:19973576C>G ENST00000379687.3 - 4 1416 c.1383G>C c.(1381-1383)caG>caC p.Q461H CXorf23_ENST00000356980.3_Missense_Mutation_p.Q461H|CXorf23_ENST00000379682.4_Missense_Mutation_p.Q461H NM_198279.3 NP_938020.2 A2AJT9 CX023_HUMAN chromosome X open reading frame 23 461 mitochondrion endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1) 11 TTTCAGTATTCTGAGTTGAGT 0.378000 12 29 0 0 0.132662 0 0 KRTAP12-4 386684 broad.mit.edu 37 21 46074247 46074247 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr21:46074247G>C ENST00000391618.1 - 1 329 c.285C>G c.(283-285)ttC>ttG p.F95L TSPEAR_ENST00000323084.4_Intron NM_198698.1 NP_941971.1 P60329 KR124_HUMAN keratin associated protein 12-4 95 15 X 5 AA approximate repeats. keratin filament lung(4)|ovary(1)|prostate(1) 6 GGGTGGGGCAGAAGGGCTGGC 0.632000 6 31 0 0 0.217242 0 0 BBS9 27241 broad.mit.edu 37 7 33185904 33185904 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:33185904C>G ENST00000242067.6 + 2 561 c.40C>G c.(40-42)Ctg>Gtg p.L14V BBS9_ENST00000354265.4_Missense_Mutation_p.L14V|BBS9_ENST00000396127.2_Missense_Mutation_p.L14V|BBS9_ENST00000355070.2_Missense_Mutation_p.L14V|BBS9_ENST00000482941.1_3'UTR|BBS9_ENST00000350941.3_Missense_Mutation_p.L14V|BBS9_ENST00000425508.2_5'UTR NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 14 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) GTCTACTATTCTGGGAGATAA 0.333000 Bardet-Biedl syndrome 36 100 0 0 0.279185 0 0 TBXAS1 6916 broad.mit.edu 37 7 139706905 139706905 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:139706905C>G ENST00000263552.6 + 14 1690 c.1152C>G c.(1150-1152)ttC>ttG p.F384L TBXAS1_ENST00000436047.2_Missense_Mutation_p.F384L|TBXAS1_ENST00000411653.1_Missense_Mutation_p.F383L|TBXAS1_ENST00000425687.1_Missense_Mutation_p.F316L|TBXAS1_ENST00000416849.2_Missense_Mutation_p.F430L|TBXAS1_ENST00000336425.5_Missense_Mutation_p.F383L|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000414508.2_Missense_Mutation_p.F384L|TBXAS1_ENST00000448866.1_Missense_Mutation_p.F383L|TBXAS1_ENST00000458722.1_Missense_Mutation_p.F429L NM_001130966.2 NP_001124438 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 383 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) CCCCTGAGTTCTGCAGCCTCG 0.532000 60 133 0 0 0.323286 0 0 IGHV1OR15-9 390531 broad.mit.edu 37 15 20170120 20170120 + RNA SNP T T C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:20170120T>C ENST00000338912.5 - 0 151 GTGCATACAGTAGCTGGTGAA 0.567000 20 65 0 0 0.204396 0 0 KRT76 51350 broad.mit.edu 37 12 53165706 53165706 + Silent SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:53165706G>C ENST00000332411.2 - 6 1265 c.1212C>G c.(1210-1212)ctC>ctG p.L404L NM_015848.4 NP_056932.2 Q01546 K22O_HUMAN keratin 76 404 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TCATCCTGTTGAGCTCCATGA 0.547000 44 91 0 0 0.323286 0 0 RICTOR 253260 broad.mit.edu 37 5 38952313 38952313 + Nonsense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:38952313C>A ENST00000357387.3 - 30 3142 c.3112G>T c.(3112-3114)Gaa>Taa p.E1038* RICTOR_ENST00000296782.5_Nonsense_Mutation_p.E1038* NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 1038 Ser-rich. actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) GGCACAGATTCACTTTCACTA 0.343000 21 23 1.1804e-14 1.29932e-14 0.294199 1 0 RFWD3 55159 broad.mit.edu 37 16 74685877 74685877 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:74685877G>A ENST00000361070.4 - 3 759 c.662C>T c.(661-663)tCt>tTt p.S221F RFWD3_ENST00000571750.1_Missense_Mutation_p.S221F NM_018124.3 NP_060594.3 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 221 S -> P (in Ref. 1; BAF83889). DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 26 ATACTCTGCAGAGCTGTCACT 0.468000 82 53 0 0 0.323286 0 0 SRBD1 55133 broad.mit.edu 37 2 45801777 45801777 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:45801777G>A ENST00000263736.4 - 8 1220 c.1158C>T c.(1156-1158)ttC>ttT p.F386F NM_018079.4 NP_060549.4 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 386 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) AGTTCCGAATGAAGTCAAGCG 0.388000 40 82 0 0 0.323286 0 0 ZNF567 163081 broad.mit.edu 37 19 37211086 37211086 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:37211086G>C ENST00000585696.1 + 3 2597 c.1367G>C c.(1366-1368)aGa>aCa p.R456T ZNF567_ENST00000536254.2_Missense_Mutation_p.R487T|ZNF567_ENST00000360729.4_Missense_Mutation_p.R456T|ZNF567_ENST00000392163.2_Missense_Mutation_p.R456T|ZNF567_ENST00000588311.1_Missense_Mutation_p.R456T|ZNF850_ENST00000589390.1_Intron Q8N184 ZN567_HUMAN zinc finger protein 567 487 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AAGGCCTTTAGAATGAAGTCA 0.418000 22 69 0 0 0.324025 0 0 GLG1 2734 broad.mit.edu 37 16 74511362 74511362 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:74511362G>C ENST00000422840.2 - 12 1896 c.1897C>G c.(1897-1899)Cct>Gct p.P633A GLG1_ENST00000205061.5_Missense_Mutation_p.P633A|GLG1_ENST00000447066.2_Missense_Mutation_p.P622A NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 633 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 TGGAGGGCAGGATCCAGCTTG 0.483000 84 58 0 0 0.323286 0 0 EED 8726 broad.mit.edu 37 11 85961447 85961447 + Nonsense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:85961447C>G ENST00000263360.6 + 2 910 c.224C>G c.(223-225)tCa>tGa p.S75* EED_ENST00000351625.6_Nonsense_Mutation_p.S75*|EED_ENST00000528180.1_Nonsense_Mutation_p.S75*|EED_ENST00000327320.4_Nonsense_Mutation_p.S75* NM_003797.3 NP_003788.2 O75530 EED_HUMAN embryonic ectoderm development 75 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|identical protein binding haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 21 Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092) AAATGGAAGTCAAAGAAATGC 0.388000 31 72 0 0 0.173368 0 0 USP4 7375 broad.mit.edu 37 3 49362149 49362149 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:49362149C>G ENST00000351842.4 - 6 689 c.681G>C c.(679-681)caG>caC p.Q227H USP4_ENST00000415188.1_Missense_Mutation_p.Q227H|USP4_ENST00000416417.1_Missense_Mutation_p.Q227H|USP4_ENST00000265560.4_Missense_Mutation_p.Q227H NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 227 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) ACTGCAAGGTCTGCCTGGGCC 0.438000 13 90 0 0 0.146539 0 0 EIF4E3 317649 broad.mit.edu 37 3 71743081 71743081 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:71743081C>G ENST00000425534.3 - 5 424 c.417G>C c.(415-417)tgG>tgC p.W139C EIF4E3_ENST00000448225.1_Missense_Mutation_p.W33C|EIF4E3_ENST00000421769.2_Missense_Mutation_p.W33C|EIF4E3_ENST00000295612.3_Missense_Mutation_p.W33C|EIF4E3_ENST00000389826.3_Missense_Mutation_p.W33C|EIF4E3_ENST00000468147.1_5'UTR NM_001134651.1 NP_001128123.1 Q8N5X7 IF4E3_HUMAN eukaryotic translation initiation factor 4E family member 3 regulation of translation cytoplasm|mRNA cap binding complex translation initiation factor activity large_intestine(1)|lung(3) 4 Prostate(10;0.0166) BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227) GCAACTCTTTCCAAACTGTGG 0.448000 3 10 0 0 0.150653 0 0 PUF60 22827 broad.mit.edu 37 8 144899273 144899273 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr8:144899273G>A ENST00000526683.1 - 11 1742 c.1187C>T c.(1186-1188)tCg>tTg p.S396L PUF60_ENST00000313352.7_Missense_Mutation_p.S336L|PUF60_ENST00000453551.2_Missense_Mutation_p.S353L|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000349157.6_Missense_Mutation_p.S379L|PUF60_ENST00000527197.1_Missense_Mutation_p.S350L|PUF60_ENST00000456095.2_Missense_Mutation_p.S367L NM_001271098.1|NM_078480.2 NP_001258027.1|NP_510965.1 Q9UHX1 PUF60_HUMAN poly-U binding splicing factor 60KDa 396 Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction. apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleus|ribonucleoprotein complex DNA binding|nucleotide binding|protein binding|RNA binding NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2) 14 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CACTCCCACCGAGGGGATGGT 0.612000 5 32 0 0 0.278610 0 0 SOD1 6647 broad.mit.edu 37 21 33036175 33036175 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr21:33036175C>G ENST00000270142.6 + 2 293 c.145C>G c.(145-147)Cat>Gat p.H49D SOD1_ENST00000470944.1_3'UTR|SOD1_ENST00000389995.4_Missense_Mutation_p.H30D NM_000454.4 NP_000445.1 P00441 SODC_HUMAN superoxide dismutase 1, soluble 49 H -> Q (in ALS1).|H -> R (in ALS1). activation of MAPK activity|auditory receptor cell stereocilium organization|cell aging|cellular iron ion homeostasis|DNA fragmentation involved in apoptotic nuclear change|double-strand break repair|embryo implantation|glutathione metabolic process|heart contraction|hydrogen peroxide biosynthetic process|locomotory behavior|muscle cell homeostasis|myeloid cell homeostasis|negative regulation of cholesterol biosynthetic process|negative regulation of neuron apoptosis|neurofilament cytoskeleton organization|ovarian follicle development|peripheral nervous system myelin maintenance|placenta development|platelet activation|platelet degranulation|positive regulation of cytokine production|regulation of blood pressure|regulation of mitochondrial membrane potential|regulation of multicellular organism growth|regulation of organ growth|regulation of T cell differentiation in thymus|relaxation of vascular smooth muscle|removal of superoxide radicals|response to axon injury|response to drug|response to ethanol|response to heat|response to hydrogen peroxide|retina homeostasis|sensory perception of sound|spermatogenesis|thymus development cytoplasmic vesicle|cytosol|dendrite cytoplasm|extracellular matrix|extracellular space|mitochondrial matrix|neuronal cell body|nucleus|peroxisome|protein complex chaperone binding|copper ion binding|protein homodimerization activity|protein phosphatase 2B binding|superoxide dismutase activity|zinc ion binding NS(1)|endometrium(2)|kidney(1) 4 ATTCCATGTTCATGAGTTTGG 0.448000 37 140 0 0 0.323286 0 0 SALL2 6297 broad.mit.edu 37 14 21991095 21991095 + Nonsense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:21991095G>A ENST00000327430.3 - 2 3061 c.2767C>T c.(2767-2769)Cag>Tag p.Q923* SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Nonsense_Mutation_p.Q786*|SALL2_ENST00000538754.1_Intron NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 923 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) AGAGCTGCCTGGGAGGGAAAG 0.597000 27 68 0 0 0.338820 0 0 CETN2 1069 broad.mit.edu 37 X 151996453 151996453 + Nonsense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrX:151996453G>A ENST00000370277.3 - 5 517 c.451C>T c.(451-453)Cga>Tga p.R151* CETN2_ENST00000493482.1_5'UTR NM_004344.1 NP_004335.1 P41208 CETN2_HUMAN centrin, EF-hand protein, 2 151 EF-hand 4. cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis centriole|cytosol|XPC complex ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding breast(1)|lung(4)|prostate(1)|skin(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) TCTCCATCTCGATCAGCTTCA 0.363000 Direct reversal of damage;Nucleotide excision repair (NER) 22 74 0 0 0.353513 0 0 TMEM255A 55026 broad.mit.edu 37 X 119402108 119402108 + Silent SNP A A G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrX:119402108A>G ENST00000371369.4 - 8 1036 c.810T>C c.(808-810)taT>taC p.Y270Y TMEM255A_ENST00000440464.1_Silent_p.Y186Y|TMEM255A_ENST00000371352.1_Silent_p.Y130Y|TMEM255A_ENST00000309720.5_Silent_p.Y294Y NM_001104544.1 NP_001098014.1 transmembrane protein 255A CCTGAAAGTCATAAGCAGAAT 0.413000 75 45 0 0 0.323286 0 0 ZNF394 84124 broad.mit.edu 37 7 99091818 99091818 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:99091818G>T ENST00000337673.6 - 3 1223 c.1020C>A c.(1018-1020)ttC>ttA p.F340L ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000493485.1_Intron NM_032164.2 NP_115540.2 Q53GI3 ZN394_HUMAN zinc finger protein 394 340 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1) 16 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) TGGAATGATGGAAACTGTCTC 0.483000 31 88 9.78485e-24 1.13197e-23 0.173368 1 0 ATP12A 479 broad.mit.edu 37 13 25280593 25280593 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr13:25280593C>A ENST00000218548.6 + 15 2512 c.2179C>A c.(2179-2181)Cag>Aag p.Q727K ATP12A_ENST00000381946.3_Missense_Mutation_p.Q721K NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 721 DAVV -> VGGQ (in Ref. 7; CAA49478). 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) GGAGGGCTGTCAGAGGCAGGT 0.567000 18 29 7.87624e-14 8.57377e-14 0.264190 1 0 KDM1A 23028 broad.mit.edu 37 1 23395118 23395118 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:23395118C>T ENST00000400181.4 + 11 1370 c.1266C>T c.(1264-1266)ttC>ttT p.F422F KDM1A_ENST00000356634.3_Silent_p.F398F|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Silent_p.F422F NM_001009999.2 NP_001009999.1 O60341 KDM1A_HUMAN lysine (K)-specific demethylase 1A 398 Demethylase activity. blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 AACTAGACTTCAATGTCCTCA 0.398000 18 28 0 0 0.189662 0 0 UTP20 27340 broad.mit.edu 37 12 101767377 101767377 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:101767377G>C ENST00000261637.4 + 54 7137 c.6963G>C c.(6961-6963)gaG>gaC p.E2321D NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 2321 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 TGCTCCATGAGAACTGCGGAA 0.478000 15 25 0 0 0.189662 0 0 GLYATL1 92292 broad.mit.edu 37 11 58711103 58711103 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:58711103G>A ENST00000300079.5 + 2 162 c.112G>A c.(112-114)Gtg>Atg p.V38M GLYATL1_ENST00000317391.4_5'UTR|RP11-142C4.6_ENST00000533954.1_RNA NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 0 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) ggatccaattgtgtccattga 0.478000 9 56 0 0 0.387290 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18650568 18650568 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:18650568C>T ENST00000433979.1 + 21 2895 c.2779C>T c.(2779-2781)Cgt>Tgt p.R927C PIK3C2G_ENST00000266497.5_Missense_Mutation_p.R927C|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R968C NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 927 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) AGATGATCTTCGTCAGGATAT 0.363000 8 41 0 0 0.093190 0 0 KIFAP3 22920 broad.mit.edu 37 1 169930298 169930298 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:169930298C>G ENST00000367765.1 - 18 3443 c.1942G>C c.(1942-1944)Gag>Cag p.E648Q KIFAP3_ENST00000540905.1_Missense_Mutation_p.E390Q|KIFAP3_ENST00000361580.2_Missense_Mutation_p.E688Q|KIFAP3_ENST00000367767.1_Missense_Mutation_p.E644Q|KIFAP3_ENST00000538366.1_Missense_Mutation_p.E610Q NM_001204517.1 NP_001191446.1 Q92845 KIFA3_HUMAN kinesin-associated protein 3 688 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding p.E688K(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGACGACTCTCTACCATCTCC 0.408000 63 83 0 0 0.323286 0 0 RNF219 79596 broad.mit.edu 37 13 79190193 79190193 + Nonsense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr13:79190193G>C ENST00000282003.6 - 6 1761 c.1703C>G c.(1702-1704)tCa>tGa p.S568* RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA NM_024546.3 NP_078822.3 Q5W0B1 RN219_HUMAN ring finger protein 219 568 Ser-rich. zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1) 32 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) AGATGACTTTGATAACCCATC 0.383000 63 133 0 0 0.323286 0 0 H3F3B 3021 broad.mit.edu 37 17 73775024 73775024 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:73775024C>A ENST00000254810.4 - 3 281 c.149G>T c.(148-150)cGa>cTa p.R50L H3F3B_ENST00000587560.1_Missense_Mutation_p.R50L|H3F3B_ENST00000589599.1_Missense_Mutation_p.R50L|H3F3B_ENST00000591890.1_Missense_Mutation_p.R50L|H3F3B_ENST00000592643.1_Missense_Mutation_p.R50L|H3F3B_ENST00000593254.1_Intron|H3F3B_ENST00000586607.1_Missense_Mutation_p.R50L NM_005324.3 NP_005315.1 P84243 H33_HUMAN H3 histone, family 3B (H3.3B) 50 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding large_intestine(1)|lung(4)|ovary(2)|skin(1) 8 all_cancers(13;1.5e-07) all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) ACGAATCTCTCGAAGCGCCAC 0.652000 OREG0024740 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 60 9.70103e-10 1.03501e-09 0.361761 1 0 PEX1 5189 broad.mit.edu 37 7 92143172 92143172 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:92143172C>G ENST00000248633.4 - 6 1444 c.1349G>C c.(1348-1350)aGa>aCa p.R450T PEX1_ENST00000438045.1_Missense_Mutation_p.R128T|PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000428214.1_Missense_Mutation_p.R450T NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 450 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TAAATTCTCTCTAGGTTGTAA 0.328000 29 77 0 0 0.173368 0 0 PRRX1 5396 broad.mit.edu 37 1 170633362 170633362 + Translation_Start_Site SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:170633362G>A ENST00000239461.6 + 1 316 c.3G>A c.(1-3)atG>atA p.M1I PRRX1_ENST00000497230.2_Start_Codon_SNP_p.M1I|PRRX1_ENST00000367760.3_Start_Codon_SNP_p.M1I NM_022716.2 NP_073207.1 P54821 PRRX1_HUMAN paired related homeobox 1 1 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GGGAGACCATGACCTCCAGCT 0.657000 4 13 0 0 0.150653 0 0 SLC7A6 9057 broad.mit.edu 37 16 68308901 68308901 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:68308901C>G ENST00000566454.1 + 4 541 c.272C>G c.(271-273)tCt>tGt p.S91C SLC7A6_ENST00000219343.6_Missense_Mutation_p.S91C NM_001076785.2 NP_001070253.1 Q92536 YLAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, y+L system), member 6 91 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) GGGCTCTTCTCTGTTGTGGGT 0.547000 33 48 0 0 0.290176 0 0 IBTK 25998 broad.mit.edu 37 6 82927697 82927697 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:82927697C>G ENST00000306270.7 - 10 1955 c.1406G>C c.(1405-1407)aGa>aCa p.R469T IBTK_ENST00000503631.1_Missense_Mutation_p.R469T|IBTK_ENST00000510291.1_Missense_Mutation_p.R469T NM_015525.2 NP_056340.2 Q9P2D0 IBTK_HUMAN inhibitor of Bruton agammaglobulinemia tyrosine kinase 469 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) AGAACTCTTTCTTTTCTCTTC 0.318000 9 29 0 0 0.361761 0 0 MED24 9862 broad.mit.edu 37 17 38192035 38192035 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:38192035G>A ENST00000394126.1 - 4 759 c.341C>T c.(340-342)tCt>tTt p.S114F MED24_ENST00000394128.2_Missense_Mutation_p.S89F|MED24_ENST00000479829.1_5'UTR|MED24_ENST00000394127.2_Missense_Mutation_p.S76F|MED24_ENST00000501516.3_Missense_Mutation_p.S89F|MED24_ENST00000356271.3_Missense_Mutation_p.S76F O75448 MED24_HUMAN mediator complex subunit 24 89 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) CAGGTCCCGAGAAAAGTCATC 0.532000 8 47 0 0 0.307466 0 0 PRICKLE3 4007 broad.mit.edu 37 X 49040229 49040229 + Silent SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrX:49040229C>A ENST00000376317.3 - 3 364 c.270G>T c.(268-270)tcG>tcT p.S90S PRICKLE3_ENST00000536904.1_Silent_p.S22S|PRICKLE3_ENST00000376310.3_Silent_p.S90S|PRICKLE3_ENST00000540849.1_Silent_p.S22S|PRICKLE3_ENST00000538114.1_Silent_p.S90S NM_006150.3 NP_006141.2 O43900 PRIC3_HUMAN prickle homolog 3 (Drosophila) 90 PET. protein binding|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2) 22 CATACTCCTCCGATGCACAGC 0.617000 23 10 4.74835e-14 5.2073e-14 0.396831 1 0 LRP6 4040 broad.mit.edu 37 12 12318175 12318175 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:12318175G>T ENST00000261349.4 - 8 1676 c.1600C>A c.(1600-1602)Cac>Aac p.H534N LRP6_ENST00000543091.1_Missense_Mutation_p.H534N NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 534 Beta-propeller 2. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) CCAAATATGTGAGGAATTTTG 0.398000 58 126 4.97629e-18 5.60307e-18 0.323286 1 0 DZIP1L 199221 broad.mit.edu 37 3 137822364 137822364 + Silent SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:137822364G>T ENST00000327532.2 - 2 812 c.450C>A c.(448-450)atC>atA p.I150I DZIP1L_ENST00000469243.1_Silent_p.I150I NM_173543.2 NP_775814.2 Q8IYY4 DZI1L_HUMAN DAZ interacting zinc finger protein 1-like 150 intracellular zinc ion binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 35 GCAGGGTGCTGATCATCTTGC 0.662000 12 26 2.27111e-07 2.38851e-07 0.093190 1 0 FRMD4B 23150 broad.mit.edu 37 3 69246184 69246184 + Nonsense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:69246184G>C ENST00000542259.1 - 14 1248 c.797C>G c.(796-798)tCa>tGa p.S266* FRMD4B_ENST00000398540.3_Nonsense_Mutation_p.S320*|FRMD4B_ENST00000478263.1_5'UTR Q9Y2L6 FRM4B_HUMAN FERM domain containing 4B 320 FERM. cytoplasm|cytoskeleton binding NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2) 19 Lung NSC(201;0.0138)|Prostate(884;0.11) BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182) TCTTGAAACTGAAATCCTGAA 0.418000 13 19 0 0 0.160694 0 0 CUEDC1 404093 broad.mit.edu 37 17 55948723 55948723 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:55948723C>A ENST00000577830.1 - 6 1205 c.792G>T c.(790-792)ttG>ttT p.L264F CUEDC1_ENST00000407144.2_Missense_Mutation_p.L264F|CUEDC1_ENST00000577840.1_Missense_Mutation_p.L127F|CUEDC1_ENST00000360238.2_Missense_Mutation_p.L264F NM_001271875.1 NP_001258804.1 Q9NWM3 CUED1_HUMAN CUE domain containing 1 264 endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 ATTCGTATTTCAATCGATCTG 0.527000 9 35 0.335167 0.336307 0.335167 1 0 RANBP2 5903 broad.mit.edu 37 2 109383783 109383783 + Nonsense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:109383783C>G ENST00000283195.6 + 20 6914 c.6788C>G c.(6787-6789)tCa>tGa p.S2263* NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 2263 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TTTGGTGAGTCAACAACAGGA 0.418000 50 297 0 0 0.323286 0 0 SYNE1 23345 broad.mit.edu 37 6 152631862 152631862 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:152631862C>G ENST00000367255.5 - 88 17458 c.16857G>C c.(16855-16857)atG>atC p.M5619I SYNE1_ENST00000341594.5_Missense_Mutation_p.M5231I|SYNE1_ENST00000265368.4_Missense_Mutation_p.M5619I|SYNE1_ENST00000448038.1_Missense_Mutation_p.M5548I|SYNE1_ENST00000356820.4_Missense_Mutation_p.M143I|SYNE1_ENST00000423061.1_Missense_Mutation_p.M5548I NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5619 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) GAATTTTGATCATCTGTCGCA 0.383000 HNSCC(10;0.0054) 15 23 0 0 0.189662 0 0 PALLD 23022 broad.mit.edu 37 4 169433469 169433469 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr4:169433469C>G ENST00000261509.6 + 2 1025 c.814C>G c.(814-816)Cga>Gga p.R272G PALLD_ENST00000505667.1_Missense_Mutation_p.R272G|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000333488.4_Missense_Mutation_p.R149G NM_001166108.1|NM_016081.3 NP_001159580.1|NP_057165.3 Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 272 Ig-like C2-type 1. cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) AGCTGCACCTCGATTCATCCA 0.567000 Pancreatic Cancer, Familial Clustering of 4 41 0 0 0.217242 0 0 PIP4K2B 8396 broad.mit.edu 37 17 36935741 36935741 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:36935741G>C ENST00000269554.3 - 5 1029 c.549C>G c.(547-549)ttC>ttG p.F183L PIP4K2B_ENST00000311500.6_5'UTR NM_003559.4 NP_003550.1 P78356 PI42B_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, beta 183 PIPK. cell surface receptor linked signaling pathway endoplasmic reticulum membrane|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1) 19 ACATGCCCAGGAACTGTGGCA 0.522000 17 42 0 0 0.160694 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102552620 102552620 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:102552620C>G ENST00000334701.7 - 3 743 c.462G>C c.(460-462)ttG>ttC p.L154F HSP90AA1_ENST00000441629.2_5'UTR|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.L32F NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 32 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) TATTGATGATCAATGACATCA 0.443000 27 71 0 0 0.324025 0 0 ATP8B1 5205 broad.mit.edu 37 18 55351394 55351394 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr18:55351394C>T ENST00000536015.1 - 15 1623 c.1504G>A c.(1504-1506)Gat>Aat p.D502N RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.D502N|RP11-35G9.5_ENST00000588925.1_RNA NM_005603.4 NP_005594 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 502 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) AGCTTCCCATCAGCATATGTA 0.348000 9 33 0 0 0.361761 0 0 ZMYM4 9202 broad.mit.edu 37 1 35885249 35885249 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:35885249G>C ENST00000314607.6 + 30 4698 c.4618G>C c.(4618-4620)Gaa>Caa p.E1540Q ZMYM4_ENST00000373297.2_Missense_Mutation_p.E1451Q NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 1540 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AGCCAAATCTGAAGACTCTGA 0.423000 12 32 0 0 0.105934 0 0 EIF5B 9669 broad.mit.edu 37 2 100006265 100006265 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:100006265G>A ENST00000289371.6 + 15 2558 c.2356G>A c.(2356-2358)Gaa>Aaa p.E786K NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TACAAAAGATGAATTTGAGGA 0.353000 31 53 0 0 0.246493 0 0 SLC25A12 8604 broad.mit.edu 37 2 172691273 172691273 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:172691273G>C ENST00000422440.2 - 7 752 c.715C>G c.(715-717)Cta>Gta p.L239V SLC25A12_ENST00000392592.4_Missense_Mutation_p.L132V NM_003705.4 NP_003696.2 O75746 CMC1_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 12 239 gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) GTGCCAGCTAGAGTGCTATAT 0.373000 34 105 0 0 0.301197 0 0 FETUB 26998 broad.mit.edu 37 3 186370280 186370280 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:186370280G>A ENST00000265029.3 + 7 1110 c.1009G>A c.(1009-1011)Gaa>Aaa p.E337K RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000539949.1_Missense_Mutation_p.E189K|FETUB_ENST00000450521.1_Missense_Mutation_p.E337K|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Missense_Mutation_p.E272K|FETUB_ENST00000382136.3_Missense_Mutation_p.E300K NM_014375.2 NP_055190.2 Q9UGM5 FETUB_HUMAN fetuin B 337 extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) TCCCCAGGGAGAAACCCTGGA 0.522000 17 98 0 0 0.234183 0 0 DLEC1 9940 broad.mit.edu 37 3 38138129 38138129 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:38138129G>A ENST00000308059.6 + 15 2262 c.2241G>A c.(2239-2241)gtG>gtA p.V747V DLEC1_ENST00000346219.3_Silent_p.V747V|DLEC1_ENST00000452631.2_Silent_p.V747V Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 747 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) AAATCGAGGTGAAAGGCTCAG 0.493000 43 77 0 0 0.323286 0 0 TMEM131 23505 broad.mit.edu 37 2 98409038 98409038 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:98409038C>T ENST00000186436.5 - 31 4183 c.3955G>A c.(3955-3957)Gaa>Aaa p.E1319K NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1319 Pro-rich. integral to membrane p.E1206Q(1)|p.E1206*(1)|p.E1319Q(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 GACAGCCTTTCAGGCTGCGGC 0.677000 7 20 0 0 0.278610 0 0 EDC4 23644 broad.mit.edu 37 16 67917616 67917616 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:67917616G>C ENST00000358933.5 + 28 4234 c.3995G>C c.(3994-3996)cGa>cCa p.R1332P CTC-479C5.10_ENST00000572067.1_lincRNA NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 1332 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CTTGGCACTCGAACTGACCTC 0.617000 OREG0023890 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 220 0 0 0.323286 0 0 CD7 924 broad.mit.edu 37 17 80274738 80274738 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:80274738C>G ENST00000584284.1 - 2 283 c.202G>C c.(202-204)Gac>Cac p.D68H CD7_ENST00000583376.1_5'UTR|CD7_ENST00000312648.3_Missense_Mutation_p.D68H|CD7_ENST00000578509.1_5'UTR P09564 CD7_HUMAN CD7 molecule 68 Ig-like. immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|membrane fraction|plasma membrane receptor activity endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667) TAAATGATGTCTTGGGGCTGT 0.632000 24 55 0 0 0.338820 0 0 RASL11B 65997 broad.mit.edu 37 4 53728708 53728708 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr4:53728708G>A ENST00000248706.3 + 1 252 c.34G>A c.(34-36)Gag>Aag p.E12K NM_023940.2 NP_076429.1 Q9BPW5 RSLBB_HUMAN RAS-like, family 11, member B 12 small GTPase mediated signal transduction membrane GTP binding|GTPase activity autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1) 9 LUSC - Lung squamous cell carcinoma(32;0.0302) CACCATCGCCGAGTACCCCGC 0.731000 7 25 0 0 0.278610 0 0 BRWD1 54014 broad.mit.edu 37 21 40627734 40627734 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr21:40627734C>G ENST00000342449.3 - 19 2170 c.2092G>C c.(2092-2094)Gac>Cac p.D698H BRWD1_ENST00000333229.2_Missense_Mutation_p.D698H|BRWD1_ENST00000380800.3_Missense_Mutation_p.D698H NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 698 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) GACTGAATGTCTAAGCTCAGC 0.418000 14 65 0 0 0.132662 0 0 USP9Y 8287 broad.mit.edu 37 Y 14898191 14898191 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrY:14898191G>T ENST00000338981.3 + 23 4151 c.3206G>T c.(3205-3207)gGa>gTa p.G1069V USP9Y_ENST00000426564.2_3'UTR NM_004654.3 NP_004645.2 O00507 USP9Y_HUMAN ubiquitin specific peptidase 9, Y-linked 1069 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GCAAAACTTGGAGAAGGCAAA 0.398000 14 51 1.02788e-11 1.10465e-11 0.160694 1 0 SLC35F1 222553 broad.mit.edu 37 6 118588187 118588187 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:118588187G>A ENST00000360388.4 + 4 708 c.507G>A c.(505-507)gtG>gtA p.V169V NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 169 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) TCCCAGTCGTGATTTTGCTCT 0.502000 56 332 0 0 0.323286 0 0 SV2B 9899 broad.mit.edu 37 15 91835762 91835762 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:91835762C>G ENST00000394232.1 + 13 2502 c.2032C>G c.(2032-2034)Cga>Gga p.R678G SV2B_ENST00000545111.2_Missense_Mutation_p.R527G|SV2B_ENST00000330276.4_Missense_Mutation_p.R678G NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 678 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) GCCAGAGACTCGAGAACAGGT 0.512000 18 105 0 0 0.234183 0 0 TXNDC16 57544 broad.mit.edu 37 14 52905928 52905928 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:52905928G>C ENST00000281741.4 - 20 2559 c.2188C>G c.(2188-2190)Cat>Gat p.H730D NM_001160047.1|NM_020784.2 NP_001153519.1|NP_065835.2 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 730 cell redox homeostasis extracellular region breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1) 21 Breast(41;0.0716) TTACTGATATGATTTTCTAGT 0.333000 9 41 0 0 0.361761 0 0 CAP1 10487 broad.mit.edu 37 1 40529930 40529930 + Nonsense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:40529930C>G ENST00000372797.3 + 5 887 c.326C>G c.(325-327)tCa>tGa p.S109* CAP1_ENST00000372805.3_Nonsense_Mutation_p.S109*|CAP1_ENST00000372792.2_Nonsense_Mutation_p.S109*|CAP1_ENST00000372798.1_Nonsense_Mutation_p.S108*|CAP1_ENST00000340450.3_Nonsense_Mutation_p.S108*|CAP1_ENST00000372802.1_Nonsense_Mutation_p.S108* NM_001105530.1|NM_006367.3 NP_001099000|NP_006358 Q01518 CAP1_HUMAN CAP, adenylate cyclase-associated protein 1 (yeast) 109 activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction plasma membrane actin binding endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GCACCCATCTCAGAGCAGATC 0.448000 21 66 0 0 0.294199 0 0 MICA 100507436 broad.mit.edu 37 6 31382788 31382788 + Splice_Site SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:31382788G>A ENST00000449934.2 + 6 1082 c.e6-1 HCP5_ENST00000414046.2_RNA NM_001177519.1 NP_001170990.1 Q29983 MICA_HUMAN MHC class I polypeptide-related sequence A antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding breast(1)|endometrium(3)|kidney(1) 5 Ovarian(999;0.0253) CTTTTCTCCAGAGCTCGTGAG 0.522000 9 73 0 0 0.387290 0 0 TAF1B 9014 broad.mit.edu 37 2 10008450 10008450 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:10008450G>A ENST00000263663.5 + 6 633 c.445G>A c.(445-447)Gag>Aag p.E149K TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR NM_005680.2 NP_005671 Q53T94 TAF1B_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa 149 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TAGTGAGCCTGAGCTGCTAAG 0.398000 19 48 0 0 0.324025 0 0 KCND2 3751 broad.mit.edu 37 7 120385895 120385895 + Missense_Mutation SNP A A G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:120385895A>G ENST00000331113.4 + 5 2494 c.1529A>G c.(1528-1530)aAt>aGt p.N510S NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 510 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) GCAACTGTTAATCGTCCTTCA 0.438000 27 51 0 0 0.368089 0 0 ZBTB20 26137 broad.mit.edu 37 3 114070334 114070334 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:114070334C>T ENST00000462705.1 - 11 1193 c.372G>A c.(370-372)gtG>gtA p.V124V ZBTB20_ENST00000357258.3_Silent_p.V124V|ZBTB20_ENST00000471418.1_Silent_p.V124V|ZBTB20_ENST00000464560.1_Silent_p.V124V|ZBTB20_ENST00000481632.1_Silent_p.V124V|ZBTB20_ENST00000393785.2_Silent_p.V124V|ZBTB20_ENST00000474710.1_Silent_p.V197V NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 197 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) ACACATCGCCCACGTTCTGTG 0.652000 10 79 0 0 0.387290 0 0 HMG20A 10363 broad.mit.edu 37 15 77770687 77770687 + Nonsense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:77770687G>T ENST00000381714.3 + 9 1170 c.742G>T c.(742-744)Gag>Tag p.E248* HMG20A_ENST00000336216.4_Nonsense_Mutation_p.E248* NM_018200.2 NP_060670.1 Q9NP66 HM20A_HUMAN high mobility group 20A 248 chromatin modification nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 GGAGTTTGAGGAGAGGAATGC 0.557000 26 64 4.87955e-14 5.34126e-14 0.324025 1 0 BRINP3 339479 broad.mit.edu 37 1 190195374 190195374 + Missense_Mutation SNP A A T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:190195374A>T ENST00000367462.3 - 6 1030 c.799T>A c.(799-801)Tca>Aca p.S267T BRINP3_ENST00000534846.1_Missense_Mutation_p.S165T NM_199051.1 NP_950252.1 bone morphogenetic protein/retinoic acid inducible neural-specific 3 267 TCTCCCTCTGAATTGCAAGCA 0.438000 19 60 0 0 0.279207 0 0 SMG5 23381 broad.mit.edu 37 1 156237348 156237348 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:156237348C>G ENST00000361813.5 - 10 1174 c.1030G>C c.(1030-1032)Gag>Cag p.E344Q SMG5_ENST00000368267.5_Intron|SMG5_ENST00000489907.2_5'UTR NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 344 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) TATCCACTCTCATACTCCTCC 0.527000 9 91 0 0 0.387290 0 0 REG1P 5969 broad.mit.edu 37 2 79364079 79364079 + RNA SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:79364079C>A ENST00000444841.1 - 0 285 ATGGAGCACTCAGTGAAGGAG 0.502000 16 61 1.78486e-19 2.03688e-19 0.189662 1 0 NFE2L2 4780 broad.mit.edu 37 2 178097233 178097233 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:178097233G>C ENST00000397062.3 - 4 1035 c.481C>G c.(481-483)Cag>Gag p.Q161E NFE2L2_ENST00000423513.1_3'UTR|NFE2L2_ENST00000446151.2_Missense_Mutation_p.Q138E|NFE2L2_ENST00000464747.1_Missense_Mutation_p.Q145E|NFE2L2_ENST00000397063.4_Missense_Mutation_p.Q145E NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 161 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) GACTGAGCCTGATTAGTAGCA 0.448000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 9 56 0 0 0.335167 0 0 FRY 10129 broad.mit.edu 37 13 32808828 32808828 + Nonsense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr13:32808828C>A ENST00000380250.3 + 42 6141 c.5645C>A c.(5644-5646)tCa>tAa p.S1882* NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1882 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CAACCTCTGTCAGCACATGCC 0.512000 17 41 4.35082e-09 4.62519e-09 0.219247 1 0 HSP90AA1 3320 broad.mit.edu 37 14 102551299 102551299 + Nonsense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:102551299C>A ENST00000334701.7 - 6 1347 c.1066G>T c.(1066-1068)Gag>Tag p.E356* HSP90AA1_ENST00000441629.2_Nonsense_Mutation_p.E55*|HSP90AA1_ENST00000216281.8_Nonsense_Mutation_p.E234* NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 234 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) tcttcAGCCTCATCATCGCTT 0.418000 11 26 2.80697e-09 2.98938e-09 0.387290 1 0 SPATA2L 124044 broad.mit.edu 37 16 89763774 89763774 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:89763774G>C ENST00000289805.5 - 3 1311 c.1243C>G c.(1243-1245)Ctg>Gtg p.L415V SPATA2L_ENST00000335360.7_Intron NM_152339.3 NP_689552.2 Q8IUW3 SPA2L_HUMAN spermatogenesis associated 2-like 415 breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1) 6 Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355) BRCA - Breast invasive adenocarcinoma(80;0.0272) TTGTAGAGCAGAGTGTCCATC 0.687000 4 14 0 0 0.150653 0 0 HIPK3 10114 broad.mit.edu 37 11 33370177 33370177 + Nonsense_Mutation SNP C C T rs150770633 TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:33370177C>T ENST00000303296.4 + 13 2784 c.2479C>T c.(2479-2481)Cag>Tag p.Q827* HIPK3_ENST00000456517.1_Nonsense_Mutation_p.Q806*|HIPK3_ENST00000525975.1_Nonsense_Mutation_p.Q806*|HIPK3_ENST00000379016.3_Nonsense_Mutation_p.Q806* NM_005734.3 NP_005725.3 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 827 Interaction with AR (By similarity).|Interaction with FAS (By similarity). anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 39 ACAGGACAATCAGAACTCAGA 0.378000 36 42 0 0 0.235728 0 0 SYMPK 8189 broad.mit.edu 37 19 46345718 46345718 + Nonsense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:46345718G>A ENST00000245934.7 - 9 1121 c.877C>T c.(877-879)Cag>Tag p.Q293* NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin 293 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) CTGCTCACCTGCGATTTGGCC 0.562000 15 80 0 0 0.219247 0 0 SEC24A 10802 broad.mit.edu 37 5 134029515 134029515 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:134029515G>A ENST00000398844.2 + 13 2166 c.1878G>A c.(1876-1878)ctG>ctA p.L626L NM_021982.2 NP_068817.1 O95486 SC24A_HUMAN SEC24 family member A 626 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCTTTAAGCTGATGTCTCCAA 0.498000 9 48 0 0 0.335167 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107446552 107446552 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:107446552G>T ENST00000409382.3 - 5 1898 c.1288C>A c.(1288-1290)Caa>Aaa p.Q430K ST6GAL2_ENST00000361686.4_Missense_Mutation_p.Q430K|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.Q430K NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 430 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 GGGTTTGGTTGAATCTTCTCT 0.368000 40 126 5.44703e-19 6.16842e-19 0.279185 1 0 MALAT1 378938 broad.mit.edu 37 11 65273495 65273495 + RNA SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:65273495G>A ENST00000534336.1 + 0 8263 NR_002819.2 GTAGGGTCATGAAGGTTTTTC 0.378000 13 28 0 0 0.105934 0 0 QRICH1 54870 broad.mit.edu 37 3 49094498 49094498 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:49094498G>A ENST00000395443.2 - 3 1607 c.1135C>T c.(1135-1137)Ctt>Ttt p.L379F QRICH1_ENST00000424300.1_Missense_Mutation_p.L379F|QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000357496.2_Missense_Mutation_p.L379F NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 379 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) GAGTTTGCAAGGGTCTGCACT 0.522000 24 55 0 0 0.309145 0 0 CBFA2T2 9139 broad.mit.edu 37 20 32217653 32217653 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr20:32217653G>A ENST00000492345.1 + 10 1786 c.1101G>A c.(1099-1101)ctG>ctA p.L367L CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000397800.1_Silent_p.L367L|CBFA2T2_ENST00000342704.6_Silent_p.L387L|CBFA2T2_ENST00000346541.3_Silent_p.L396L|CBFA2T2_ENST00000359606.3_Silent_p.L406L|CBFA2T2_ENST00000375279.2_Silent_p.L396L O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 2 396 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 ACACAGAGCTGAGGAAAACGG 0.507000 5 34 0 0 0.217242 0 0 ANKHD1 54882 broad.mit.edu 37 5 139916980 139916980 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:139916980C>G ENST00000297183.6 + 31 7158 c.7034C>G c.(7033-7035)tCt>tGt p.S2345C ANKHD1_ENST00000544120.1_Missense_Mutation_p.S669C|ANKHD1_ENST00000360839.2_Missense_Mutation_p.S2345C|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S2345C NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGCCACTTCTGCCCCACCA 0.453000 25 91 0 0 0.396831 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 3 62 0 0 0.248553 0 0 HEATR6 63897 broad.mit.edu 37 17 58123500 58123500 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:58123500C>G ENST00000184956.6 - 19 2876 c.2860G>C c.(2860-2862)Gag>Cag p.E954Q HEATR6_ENST00000585976.1_Missense_Mutation_p.E842Q NM_022070.4 NP_071353.4 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 954 binding p.E954Q(1) NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) ATAGACTCCTCAATGATTTCT 0.393000 25 62 0 0 0.368089 0 0 MSLN 10232 broad.mit.edu 37 16 814666 814666 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:814666G>A ENST00000566549.1 + 6 737 c.320G>A c.(319-321)cGg>cAg p.R107Q MSLN_ENST00000545450.2_Missense_Mutation_p.R107Q|MSLN_ENST00000382862.3_Missense_Mutation_p.R107Q|MSLN_ENST00000563941.1_Missense_Mutation_p.R107Q Q13421 MSLN_HUMAN mesothelin 107 cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20 Hepatocellular(780;0.00335) CTGGCTCACCGGCTCTCTGAG 0.682000 53 127 0 0 0.323286 0 0 NT5DC3 51559 broad.mit.edu 37 12 104187715 104187715 + Splice_Site SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:104187715C>G ENST00000392876.3 - 7 854 c.814G>C c.(814-816)Gaa>Caa p.E272Q NM_001031701.2 NP_001026871.1 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 272 hydrolase activity|metal ion binding NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2) 30 GAGCACATACCAATGTCTGCT 0.413000 21 80 0 0 0.368089 0 0 MALAT1 378938 broad.mit.edu 37 11 65273350 65273350 + RNA SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:65273350G>T ENST00000534336.1 + 0 8118 NR_002819.2 GTAGACTGGAGAAGATAGGCA 0.413000 31 75 6.29468e-14 6.87753e-14 0.214465 1 0 KIF3C 3797 broad.mit.edu 37 2 26204353 26204353 + Missense_Mutation SNP T T C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:26204353T>C ENST00000264712.3 - 1 1013 c.434A>G c.(433-435)tAt>tGt p.Y145C KIF3C_ENST00000405914.1_Missense_Mutation_p.Y145C NM_002254.6 NP_002245 O14782 KIF3C_HUMAN kinesin family member 3C 145 Kinesin-motor. blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GATCTCCAAATAGGAGGCCCG 0.582000 31 71 0 0 0.203993 0 0 UGP2 7360 broad.mit.edu 37 2 64083559 64083559 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:64083559G>C ENST00000337130.5 + 2 615 c.139G>C c.(139-141)Gaa>Caa p.E47Q UGP2_ENST00000487469.1_Intron|UGP2_ENST00000467648.2_Missense_Mutation_p.E36Q|UGP2_ENST00000445915.2_Missense_Mutation_p.E56Q|UGP2_ENST00000394417.2_Missense_Mutation_p.E36Q NM_006759.3 NP_006750.3 Q16851 UGPA_HUMAN UDP-glucose pyrophosphorylase 2 47 glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1) 18 ATCATCACATGAATTTGAGGT 0.458000 34 217 0 0 0.312237 0 0 GABARAPL3 23766 broad.mit.edu 37 15 90892196 90892196 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:90892196G>C ENST00000412799.2 - 1 473 c.234C>G c.(232-234)ttC>ttG p.F78L TGTTGACAAAGAAGAATAAGG 0.478000 23 50 0 0 0.309145 0 0 PLIN3 10226 broad.mit.edu 37 19 4859922 4859922 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:4859922C>T ENST00000221957.4 - 3 357 c.181G>A c.(181-183)Gac>Aac p.D61N PLIN3_ENST00000585479.1_Missense_Mutation_p.D61N|PLIN3_ENST00000592528.1_Missense_Mutation_p.D61N NM_001164189.1|NM_001164194.1|NM_005817.4 NP_001157661.1|NP_001157666.1|NP_005808.3 O60664 PLIN3_HUMAN perilipin 3 61 vesicle-mediated transport endosome membrane|Golgi apparatus|lipid particle protein binding cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 9 Galsulfase(DB01279)|Idursulfase(DB01271) TCTGCTGCGTCGCAGACAGTC 0.637000 3 25 0 0 0.184627 0 0 MRPL41 64975 broad.mit.edu 37 9 140446562 140446562 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr9:140446562G>A ENST00000371443.5 + 2 817 c.29G>A c.(28-30)tGc>tAc p.C10Y NM_032477.2 NP_115866.1 Q8IXM3 RM41_HUMAN mitochondrial ribosomal protein L41 10 apoptosis|cell cycle|translation mitochondrial large ribosomal subunit structural constituent of ribosome breast(1)|lung(1) 2 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106) GCGGCGCGCTGCCTGGTCCGG 0.776000 7 9 0 0 0.335167 0 0 PHLDB2 90102 broad.mit.edu 37 3 111686606 111686606 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:111686606G>A ENST00000431670.2 + 15 3661 c.3250G>A c.(3250-3252)Gaa>Aaa p.E1084K PHLDB2_ENST00000495180.1_Missense_Mutation_p.E575K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E1041K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E1084K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E1068K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E1041K NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 1084 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 ATTACAGGAAGAAACTAGCCA 0.433000 OREG0015707 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 22 0 0 0.217242 0 0 TRDMT1 1787 broad.mit.edu 37 10 17195630 17195630 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:17195630C>G ENST00000377799.3 - 10 998 c.951G>C c.(949-951)gaG>gaC p.E317D TRDMT1_ENST00000488990.1_Missense_Mutation_p.E194D|TRDMT1_ENST00000412821.3_Missense_Mutation_p.E293D|TRDMT1_ENST00000351358.4_Missense_Mutation_p.E271D|TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000457442.2_Missense_Mutation_p.E236D|TRDMT1_ENST00000452380.2_5'UTR NM_004412.5 NP_004403.1 O14717 TRDMT_HUMAN tRNA aspartic acid methyltransferase 1 317 tRNA processing nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 18 TGTAGATATTCTCAACCTGTA 0.333000 4 18 0 0 0.217242 0 0 DSCAML1 57453 broad.mit.edu 37 11 117302289 117302289 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:117302289C>G ENST00000321322.6 - 31 5516 c.5515G>C c.(5515-5517)Gag>Cag p.E1839Q DSCAML1_ENST00000527706.1_Missense_Mutation_p.E1569Q NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1779 axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CTGTCACTCTCAGTGACCGTG 0.632000 21 59 0 0 0.249174 0 0 DOK2 9046 broad.mit.edu 37 8 21767094 21767094 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr8:21767094G>C ENST00000276420.4 - 5 1225 c.967C>G c.(967-969)Cag>Gag p.Q323E DOK2_ENST00000544659.1_Missense_Mutation_p.Q169E NM_003974.2 NP_003965.2 O60496 DOK2_HUMAN docking protein 2, 56kDa 323 Pro-rich. blood coagulation|leukocyte migration cytosol identical protein binding|insulin receptor binding NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1) 26 Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) GCCAGGAGCTGAGGAGGGACT 0.647000 30 43 0 0 0.410975 0 0 DNMT1 1786 broad.mit.edu 37 19 10286275 10286275 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:10286275G>C ENST00000340748.4 - 6 776 c.541C>G c.(541-543)Cag>Gag p.Q181E DNMT1_ENST00000540357.1_Missense_Mutation_p.Q181E|DNMT1_ENST00000359526.4_Missense_Mutation_p.Q197E P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 181 Interaction with DNMT3B.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) GACTCTTCCTGAGGTTTCCGT 0.512000 23 53 0 0 0.353513 0 0 SYNE1 23345 broad.mit.edu 37 6 152740829 152740829 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:152740829C>G ENST00000367255.5 - 40 5897 c.5296G>C c.(5296-5298)Gaa>Caa p.E1766Q SYNE1_ENST00000341594.5_Missense_Mutation_p.E1803Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1766Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1773Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1773Q NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1766 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) TGCTGGTGTTCAGCAACCACA 0.348000 HNSCC(10;0.0054) 11 42 0 0 0.160694 0 0 TLR8 51311 broad.mit.edu 37 X 12938248 12938248 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrX:12938248C>G ENST00000218032.6 + 2 1176 c.1089C>G c.(1087-1089)ttC>ttG p.F363L TLR8_ENST00000311912.5_Missense_Mutation_p.F381L NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 363 cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 CCAGAAACTTCTCTAAACTTT 0.393000 26 43 0 0 0.353513 0 0 ANGPTL4 51129 broad.mit.edu 37 19 8436324 8436324 + Silent SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:8436324C>G ENST00000301455.2 + 6 1128 c.957C>G c.(955-957)ccC>ccG p.P319P ANGPTL4_ENST00000541807.1_Silent_p.P152P|ANGPTL4_ENST00000393962.2_Silent_p.P281P NM_139314.1 NP_647475.1 Q9BY76 ANGL4_HUMAN angiopoietin-like 4 319 Fibrinogen C-terminal. angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis extracellular space|proteinaceous extracellular matrix enzyme inhibitor activity|receptor binding large_intestine(1)|lung(1)|ovary(2)|skin(2) 6 CCGTCCCACCCAGCGGCCTCT 0.667000 5 25 0 0 0.248553 0 0 RPUSD3 285367 broad.mit.edu 37 3 9885243 9885243 + Silent SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:9885243G>C ENST00000383820.5 - 2 169 c.168C>G c.(166-168)ccC>ccG p.P56P RPUSD3_ENST00000485705.1_5'UTR|RPUSD3_ENST00000424438.1_Silent_p.P24P|RPUSD3_ENST00000433535.2_Silent_p.P56P|TTLL3_ENST00000455274.1_Intron NM_173659.3 NP_775930.2 Q6P087 RUSD3_HUMAN RNA pseudouridylate synthase domain containing 3 56 pseudouridine synthesis pseudouridine synthase activity|RNA binding central_nervous_system(2)|endometrium(3)|lung(2) 7 Medulloblastoma(99;0.227) GGTCCCCGAGGGGCCCCGACC 0.657000 11 23 0 0 0.093190 0 0 OGDHL 55753 broad.mit.edu 37 10 50966537 50966537 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:50966537G>A ENST00000374103.4 - 2 187 c.102C>T c.(100-102)tcC>tcT p.S34S OGDHL_ENST00000432695.1_Intron|OGDHL_ENST00000419399.1_Silent_p.S34S NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 34 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 CCGGTGGCCCGGAGGACCTGC 0.632000 17 27 0 0 0.189662 0 0 HIST1H2AK 8330 broad.mit.edu 37 6 27805994 27805994 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:27805994C>T ENST00000330180.2 - 1 123 c.124G>A c.(124-126)Gag>Aag p.E42K NM_003510.2 NP_003501.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2ak 42 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2) 10 CCGACCCGCTCAGCGTAGTTG 0.657000 12 38 0 0 0.119110 0 0 ASGR2 433 broad.mit.edu 37 17 7010563 7010563 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:7010563G>A ENST00000380952.2 - 6 762 c.498C>T c.(496-498)ctC>ctT p.L166L ASGR2_ENST00000355035.5_Silent_p.L166L|ASGR2_ENST00000446679.2_Silent_p.L147L|ASGR2_ENST00000254850.7_Silent_p.L142L NM_001181.4|NM_001201352.1|NM_080912.3 NP_001172|NP_001188281.1|NP_550434 P07307 ASGR2_HUMAN asialoglycoprotein receptor 2 166 cell surface receptor linked signaling pathway|endocytosis focal adhesion|integral to membrane|nucleolus asialoglycoprotein receptor activity|protein binding|sugar binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4) 18 Antihemophilic Factor(DB00025) TGCTGTGGAGGAGCTCCATCT 0.642000 10 14 0 0 0.387290 0 0 APOBR 55911 broad.mit.edu 37 16 28508751 28508751 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:28508751G>A ENST00000564831.1 + 2 2422 c.2389G>A c.(2389-2391)Gag>Aag p.E797K APOBR_ENST00000431282.1_Missense_Mutation_p.E788K|APOBR_ENST00000328423.5_Missense_Mutation_p.E788K NM_018690.3 NP_061160.3 Q0VD83 APOBR_HUMAN apolipoprotein B receptor 788 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 AGAAAAGGAAGAGGCAGCAGC 0.572000 6 10 0 0 0.248553 0 0 DDX59 83479 broad.mit.edu 37 1 200594175 200594175 + Splice_Site SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:200594175C>G ENST00000447706.2 - 8 1748 c.1597G>C c.(1597-1599)Gaa>Caa p.E533Q Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 0 Helicase C-terminal. intracellular ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3) 21 TAGGTATTTTCCTAAAATGGA 0.368000 6 20 0 0 0.248553 0 0 PSME4 23198 broad.mit.edu 37 2 54122166 54122166 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:54122166C>T ENST00000404125.1 - 34 3945 c.3890G>A c.(3889-3891)aGa>aAa p.R1297K PSME4_ENST00000421748.2_Missense_Mutation_p.R441K NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 1297 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) CTCCCTGCTTCTGCCAAGCTT 0.388000 45 127 0 0 0.323286 0 0 MSTN 2660 broad.mit.edu 37 2 190924966 190924966 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:190924966C>T ENST00000260950.4 - 2 701 c.569G>A c.(568-570)cGa>cAa p.R190Q C2orf88_ENST00000478197.1_Intron NM_005259.2 NP_005250.1 O14793 GDF8_HUMAN myostatin 190 muscle organ development|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395) TTTCAGAGATCGGATTCCAGT 0.428000 43 239 0 0 0.323286 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 6 249 0 0 0.217242 0 0 SMC4 10051 broad.mit.edu 37 3 160148850 160148850 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:160148850C>T ENST00000357388.3 + 20 3422 c.2971C>T c.(2971-2973)Cgc>Tgc p.R991C SMC4_ENST00000462787.1_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.R966C|SMC4_ENST00000344722.5_Missense_Mutation_p.R991C|SMC4_ENST00000360111.2_Intron|RP11-432B6.3_ENST00000483754.1_Intron NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 991 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GAAAGAACATCGCAATCTGCT 0.333000 21 50 0 0 0.249174 0 0 HSF1 3297 broad.mit.edu 37 8 145533476 145533476 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr8:145533476G>A ENST00000528838.1 + 4 542 c.382G>A c.(382-384)Gaa>Aaa p.E128K HSF1_ENST00000400780.4_Missense_Mutation_p.E63K NM_005526.2 NP_005517.1 Q00613 HSF1_HUMAN heat shock transcription factor 1 128 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) CCTGAAGAGTGAAGACATAAA 0.602000 16 152 0 0 0.264190 0 0 PPAP2A 8611 broad.mit.edu 37 5 54721830 54721830 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:54721830C>G ENST00000307259.8 - 5 1007 c.587G>C c.(586-588)aGa>aCa p.R196T PPAP2A_ENST00000264775.5_Missense_Mutation_p.R197T NM_003711.2 NP_003702.2 O14494 LPP1_HUMAN phosphatidic acid phosphatase type 2A 196 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process integral to plasma membrane|membrane fraction phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1) 9 Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544) GCGTAAGAGTCTTGCCCAGTC 0.378000 11 55 0 0 0.105934 0 0 CILP2 148113 broad.mit.edu 37 19 19654990 19654990 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:19654990G>A ENST00000586018.1 + 8 1756 c.1654G>A c.(1654-1656)Ggc>Agc p.G552S CILP2_ENST00000291495.5_Missense_Mutation_p.G546S Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 546 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 TCGAGGTGCCGGCGTGTACCA 0.617000 3 71 0 0 0.115264 0 0 GOLGA2 2801 broad.mit.edu 37 9 131028091 131028091 + Nonsense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr9:131028091G>A ENST00000421699.2 - 10 733 c.721C>T c.(721-723)Cag>Tag p.Q241* GOLGA2_ENST00000609374.1_Nonsense_Mutation_p.Q229* NM_004486.4 NP_004477.3 Q08379 GOGA2_HUMAN golgin A2 241 Golgi cisterna membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 GCAGCATGCTGAGTGTGAGCC 0.532000 22 54 0 0 0.353513 0 0 MTF1 4520 broad.mit.edu 37 1 38304297 38304297 + Splice_Site SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:38304297C>T ENST00000373036.4 - 4 919 c.779G>A c.(778-780)cGg>cAg p.R260Q NM_005955.2 NP_005946.2 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 260 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding p.R260Q(1) endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1) 31 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TAAGACCTACCGAAATGGCTT 0.403000 11 62 0 0 0.119110 0 0 GCLM 2730 broad.mit.edu 37 1 94360257 94360257 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:94360257G>A ENST00000370238.3 - 6 814 c.568C>T c.(568-570)Ctt>Ttt p.L190F GCLM_ENST00000467772.1_5'UTR NM_002061.2 NP_002052.1 P48507 GSH0_HUMAN glutamate-cysteine ligase, modifier subunit 190 glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process cytosol|soluble fraction glutamate-cysteine ligase catalytic subunit binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_lung(203;0.000815)|Lung NSC(277;0.00363) all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) CAGGAGGCAAGATTAACTTGG 0.323000 51 87 0 0 0.323286 0 0 ACPP 55 broad.mit.edu 37 3 132068810 132068810 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:132068810G>C ENST00000336375.5 + 8 918 c.828G>C c.(826-828)caG>caC p.Q276H ACPP_ENST00000475741.1_Missense_Mutation_p.Q243H|ACPP_ENST00000351273.7_Missense_Mutation_p.Q276H NM_001099.4 NP_001090.2 P15309 PPAP_HUMAN acid phosphatase, prostate 276 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 27 GAGCAACTCAGATACCAAGCT 0.348000 10 61 0 0 0.335167 0 0 SLC6A18 348932 broad.mit.edu 37 5 1245984 1245984 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:1245984G>C ENST00000324642.3 + 12 1801 c.1678G>C c.(1678-1680)Gag>Cag p.E560Q NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 560 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CTCGCGTCAGGAGAAGCTCTA 0.706000 5 34 0 0 0.217242 0 0 MYB 4602 broad.mit.edu 37 6 135539063 135539063 + Missense_Mutation SNP C C T rs148508251 TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:135539063C>T ENST00000341911.5 + 16 2430 c.2231C>T c.(2230-2232)tCc>tTc p.S744F MYB_ENST00000534044.1_Missense_Mutation_p.S586F|MYB_ENST00000533624.1_Missense_Mutation_p.S588F|MYB_ENST00000525369.1_Missense_Mutation_p.S538F|MYB_ENST00000442647.2_Missense_Mutation_p.S620F|MYB_ENST00000534121.1_Missense_Mutation_p.S728F|MYB_ENST00000316528.8_Missense_Mutation_p.S709F|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000528774.1_Missense_Mutation_p.S741F|MYB_ENST00000367814.4_Missense_Mutation_p.S623F NM_001130173.1|NM_001161656.1|NM_001161658.1 NP_001123645.1|NP_001155128.1|NP_001155130.1 P10242 MYB_HUMAN v-myb avian myeloblastosis viral oncogene homolog 623 blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) ATGACATCTTCCAGTCAAGCT 0.478000 T NFIB adenoid cystic carcinoma 10 69 0 0 0.361761 0 0 MGEA5 10724 broad.mit.edu 37 10 103567511 103567511 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:103567511C>T ENST00000361464.3 - 5 1023 c.628G>A c.(628-630)Gaa>Aaa p.E210K MGEA5_ENST00000439817.1_Missense_Mutation_p.E210K|MGEA5_ENST00000370094.3_Missense_Mutation_p.E210K|MGEA5_ENST00000357797.5_Missense_Mutation_p.E210K|MGEA5_ENST00000419011.2_3'UTR NM_012215.3 NP_036347.1 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 210 glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 23 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) AGGAAAGTTTCTGGCTCTCCT 0.393000 18 114 0 0 0.234183 0 0 USPL1 10208 broad.mit.edu 37 13 31205593 31205593 + Nonsense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr13:31205593C>T ENST00000255304.4 + 4 1192 c.850C>T c.(850-852)Caa>Taa p.Q284* USPL1_ENST00000465952.1_3'UTR NM_005800.4 NP_005791.3 Q5W0Q7 USPL1_HUMAN ubiquitin specific peptidase like 1 284 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3) 34 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) ATATACCAGTCAATTGAGTGG 0.378000 20 62 0 0 0.279207 0 0 GRIN1 2902 broad.mit.edu 37 9 140051206 140051206 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr9:140051206G>A ENST00000371561.3 + 5 1854 c.757G>A c.(757-759)Gag>Aag p.E253K GRIN1_ENST00000350902.5_Missense_Mutation_p.E253K|GRIN1_ENST00000371546.4_Missense_Mutation_p.E274K|GRIN1_ENST00000371555.4_Missense_Mutation_p.E274K|GRIN1_ENST00000371553.3_Missense_Mutation_p.E274K|GRIN1_ENST00000315048.3_Missense_Mutation_p.E253K|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371550.4_Missense_Mutation_p.E253K|GRIN1_ENST00000371559.4_Missense_Mutation_p.E253K|GRIN1_ENST00000371560.3_Missense_Mutation_p.E274K NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 253 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CGGCGAGCGCGAGATCTCGGG 0.697000 6 3 0 0 0.248553 0 0 ATIC 471 broad.mit.edu 37 2 216177324 216177324 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:216177324C>T ENST00000435675.1 + 1 511 c.120C>T c.(118-120)ctC>ctT p.L40L ATIC_ENST00000540518.1_5'UTR|ATIC_ENST00000236959.9_Silent_p.L41L P31939 PUR9_HUMAN 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 41 IMP biosynthetic process|purine base metabolic process cytosol IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity ATIC/ALK(24) large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 8 Renal(323;0.229) Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097) Tetrahydrofolic acid(DB00116) CAAAAGCTCTCAGGGATGCTG 0.488000 T ALK ALCL 22 38 0 0 0.279207 0 0 CELSR3 1951 broad.mit.edu 37 3 48698429 48698429 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:48698429C>T ENST00000544264.1 - 1 1919 c.1639G>A c.(1639-1641)Gag>Aag p.E547K CELSR3_ENST00000164024.4_Missense_Mutation_p.E547K Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 547 Cadherin 3. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TAGCGCTTCTCGCTGAACTGA 0.652000 22 34 0 0 0.279207 0 0 IQGAP1 8826 broad.mit.edu 37 15 91020921 91020921 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:91020921G>C ENST00000268182.5 + 26 3253 c.3129G>C c.(3127-3129)gaG>gaC p.E1043D IQGAP1_ENST00000560738.1_Missense_Mutation_p.E471D NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1043 C1.|Ras-GAP. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) AGATTCAAGAGATTGTGACAG 0.413000 20 72 0 0 0.219247 0 0 TDP1 55775 broad.mit.edu 37 14 90429788 90429788 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:90429788C>G ENST00000335725.4 + 3 580 c.330C>G c.(328-330)atC>atG p.I110M TDP1_ENST00000555880.1_Missense_Mutation_p.I110M|TDP1_ENST00000555565.1_Intron|TDP1_ENST00000393452.3_Missense_Mutation_p.I110M|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000393454.2_Missense_Mutation_p.I110M NM_018319.3 NP_060789.2 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 110 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1) 25 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) AAGTGGTGATCAAAAAGGAGA 0.542000 Repair of DNA-protein crosslinks 24 53 0 0 0.309145 0 0 C1orf61 10485 broad.mit.edu 37 1 156386657 156386657 + Splice_Site SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:156386657C>G ENST00000368243.1 - 3 92 c.e3-1 NM_006365.1 NP_006356.1 Q13536 CROC4_HUMAN chromosome 1 open reading frame 61 nucleus large_intestine(2)|lung(2)|skin(1) 5 Hepatocellular(266;0.158) TTTTTACATTCTGAAACAAAT 0.388000 13 35 0 0 0.119110 0 0 ALDH1A1 216 broad.mit.edu 37 9 75540481 75540481 + Silent SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr9:75540481C>G ENST00000297785.3 - 6 606 c.552G>C c.(550-552)ctG>ctC p.L184L ALDH1A1_ENST00000376939.1_Silent_p.L184L|ALDH1A1_ENST00000482210.1_5'UTR NM_000689.4 NP_000680.2 P00352 AL1A1_HUMAN aldehyde dehydrogenase 1 family, member A1 184 cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process cytosol aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1) 17 NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) TTCCACAGCTCAGTGCAGGCC 0.423000 24 30 0 0 0.309145 0 0 CSNK2B 1460 broad.mit.edu 37 6 31635728 31635728 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:31635728G>T ENST00000375880.2 + 3 274 c.156G>T c.(154-156)atG>atT p.M52I CSNK2B_ENST00000375882.2_Missense_Mutation_p.M52I|CSNK2B_ENST00000375866.2_Missense_Mutation_p.M52I|CSNK2B_ENST00000375865.2_Missense_Mutation_p.M52I|CSNK2B_ENST00000375885.4_Missense_Mutation_p.M71I CTCTAGACATGATCTTGGACC 0.458000 8 55 0.00185496 0.00190335 0.105934 1 0 DLEC1 9940 broad.mit.edu 37 3 38136557 38136557 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:38136557C>T ENST00000308059.6 + 13 2128 c.2107C>T c.(2107-2109)Cat>Tat p.H703Y DLEC1_ENST00000346219.3_Missense_Mutation_p.H703Y|DLEC1_ENST00000452631.2_Missense_Mutation_p.H703Y Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 703 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CTTTTCTCCTCATGAGGTTCA 0.527000 15 53 0 0 0.204396 0 0 MEIS1 4211 broad.mit.edu 37 2 66795861 66795861 + Nonsense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:66795861C>T ENST00000488550.1 + 11 1386 c.1087C>T c.(1087-1089)Cag>Tag p.Q363* MEIS1_ENST00000444274.2_3'UTR|MEIS1_ENST00000495021.2_Nonsense_Mutation_p.Q298*|MEIS1_ENST00000398506.2_Nonsense_Mutation_p.Q361*|MEIS1_ENST00000409517.1_3'UTR|MEIS1_ENST00000272369.9_Nonsense_Mutation_p.Q363*|MEIS1_ENST00000407092.2_Nonsense_Mutation_p.Q363* O00470 MEIS1_HUMAN Meis homeobox 1 363 Required for transcriptional activation (By similarity). sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 24 AATGGACGGTCAGCAACATAT 0.408000 98 255 0 0 0.323286 0 0 NRBP2 340371 broad.mit.edu 37 8 144921499 144921499 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr8:144921499G>C ENST00000442628.2 - 6 706 c.567C>G c.(565-567)atC>atG p.I189M NRBP2_ENST00000327830.5_De_novo_Start_InFrame NM_178564.3 NP_848659.2 Q9NSY0 NRBP2_HUMAN nuclear receptor binding protein 2 189 Protein kinase. negative regulation of neuron apoptosis|neuron differentiation cytoplasm ATP binding|protein kinase activity central_nervous_system(2)|kidney(1)|large_intestine(2) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) AGCCGATCTTGATGAGGCCGT 0.657000 3 28 0 0 0.150653 0 0 RABGGTA 5875 broad.mit.edu 37 14 24738898 24738898 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:24738898G>A ENST00000399409.3 - 5 913 c.430C>T c.(430-432)Cac>Tac p.H144Y RABGGTA_ENST00000216840.6_Missense_Mutation_p.H144Y|RABGGTA_ENST00000560777.1_5'UTR|RABGGTA_ENST00000559586.1_5'UTR NM_004581.5 NP_004572.3 Q92696 PGTA_HUMAN Rab geranylgeranyltransferase, alpha subunit 144 visual perception Rab geranylgeranyltransferase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 12 GBM - Glioblastoma multiforme(265;0.0184) TCCCAGCAGTGAACTGGAGGG 0.587000 11 13 0 0 0.093190 0 0 MUC17 140453 broad.mit.edu 37 7 100679360 100679360 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:100679360C>G ENST00000306151.4 + 3 4727 c.4663C>G c.(4663-4665)Cct>Gct p.P1555A NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1555 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CAGTTCATCTCCTACAACTGC 0.493000 70 437 0 0 0.323286 0 0 MPZL2 10205 broad.mit.edu 37 11 118128003 118128003 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:118128003C>G ENST00000278937.2 - 5 738 c.610G>C c.(610-612)Gag>Cag p.E204Q MPZL2_ENST00000438295.2_Missense_Mutation_p.E204Q NM_005797.3 NP_005788.1 O60487 MPZL2_HUMAN myelin protein zero-like 2 204 anatomical structure morphogenesis|homophilic cell adhesion cytoskeleton|integral to membrane endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1) 11 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) ACCTTTTTCTCTTGGTTGAGC 0.388000 12 84 0 0 0.105934 0 0 CCDC15 80071 broad.mit.edu 37 11 124857585 124857585 + Missense_Mutation SNP C C A rs112861775 TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:124857585C>A ENST00000529051.1 + 8 1722 c.1463C>A c.(1462-1464)cCc>cAc p.P488H CCDC15_ENST00000344762.5_Missense_Mutation_p.P488H Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 488 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) CATGTTCTCCCCAAAGACCAA 0.403000 4 145 0.150653 0.151682 0.150653 1 0 TAF4 6874 broad.mit.edu 37 20 60575694 60575694 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr20:60575694G>A ENST00000252996.4 - 10 2569 c.2570C>T c.(2569-2571)tCt>tTt p.S857F NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.S857C(1) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) CACCAATTCAGAGTTCGTGGC 0.443000 40 52 0 0 0.290176 0 0 MYH6 4624 broad.mit.edu 37 14 23858626 23858626 + Missense_Mutation SNP T T G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:23858626T>G ENST00000405093.3 - 28 4024 c.3954A>C c.(3952-3954)aaA>aaC p.K1318N MYH6_ENST00000356287.3_Missense_Mutation_p.K1318N NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1318 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CCAGCTGCCTTTTGAGGTCCT 0.607000 16 124 0 0 0.175082 0 0 PPRC1 23082 broad.mit.edu 37 10 103909067 103909067 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:103909067G>C ENST00000278070.2 + 13 4911 c.4872G>C c.(4870-4872)aaG>aaC p.K1624N PPRC1_ENST00000413464.2_Missense_Mutation_p.K1360N|PPRC1_ENST00000370012.1_Missense_Mutation_p.K591N NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 1624 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) AGTTCTGCAAGAGGAGCTATT 0.557000 28 65 0 0 0.368089 0 0 SLC26A9 115019 broad.mit.edu 37 1 205896660 205896660 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:205896660G>C ENST00000367135.3 - 10 1288 c.1175C>G c.(1174-1176)tCt>tGt p.S392C SLC26A9_ENST00000367134.2_Missense_Mutation_p.S392C|SLC26A9_ENST00000340781.4_Missense_Mutation_p.S392C NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 392 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) CAGAGTGACAGAAAGCGCACA 0.517000 11 45 0 0 0.387290 0 0 SLC22A20 440044 broad.mit.edu 37 11 64981715 64981715 + RNA SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:64981715C>G ENST00000525437.1 + 0 405 A6NK97 S22AK_HUMAN ion transport integral to membrane transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2) 8 CGTCCACCATCGTGATGGAGG 0.657000 4 12 0 0 0.150653 0 0 LAMA5 3911 broad.mit.edu 37 20 60900379 60900379 + Nonsense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr20:60900379G>T ENST00000252999.3 - 41 5588 c.5522C>A c.(5521-5523)tCa>tAa p.S1841* NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1841 Laminin EGF-like 16; second part. 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) CACCTGGCATGAGTCCCCCCG 0.677000 9 15 0.000978159 0.00100542 0.387290 1 0 PCDHGA10 56106 broad.mit.edu 37 5 140795020 140795020 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:140795020G>A ENST00000398610.2 + 1 2278 c.2278G>A c.(2278-2280)Gag>Aag p.E760K PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTATTCCCACGAGGTCTCTCT 0.602000 56 107 0 0 0.323286 0 0 GANAB 23193 broad.mit.edu 37 11 62398090 62398090 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:62398090C>G ENST00000346178.4 - 12 1450 c.1435G>C c.(1435-1437)Gct>Cct p.A479P GANAB_ENST00000540933.1_Missense_Mutation_p.A360P|GANAB_ENST00000356638.3_Missense_Mutation_p.A457P|GANAB_ENST00000534779.1_Missense_Mutation_p.A365P NM_001278192.1|NM_198335.2 NP_001265121.1|NP_938149.2 Q14697 GANAB_HUMAN glucosidase, alpha; neutral AB 457 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 CTCTTAGAAGCCAAGCGCTCA 0.537000 4 45 0 0 0.150653 0 0 FMO5 2330 broad.mit.edu 37 1 146672879 146672879 + Silent SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:146672879G>C ENST00000254090.4 - 7 1426 c.1038C>G c.(1036-1038)gtC>gtG p.V346V RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000441068.2_Silent_p.V346V|FMO5_ENST00000369272.3_Intron|RP11-337C18.10_ENST00000606856.1_RNA NM_001461.2 NP_001452.2 P49326 FMO5_HUMAN flavin containing monooxygenase 5 346 integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 25 all_hematologic(923;0.0487) TCTTGTTTTTGACCACTTTGA 0.443000 6 68 0 0 0.248553 0 0 C17orf70 80233 broad.mit.edu 37 17 79517599 79517599 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:79517599C>T ENST00000537152.1 - 3 993 c.468G>A c.(466-468)gtG>gtA p.V156V C17orf70_ENST00000327787.8_Silent_p.V307V NM_025161.5 NP_079437.5 Q0VG06 FP100_HUMAN chromosome 17 open reading frame 70 307 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) AGTCACAGTGCACATCCTCGT 0.607000 12 74 0 0 0.146539 0 0 INTS7 25896 broad.mit.edu 37 1 212190334 212190334 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:212190334C>T ENST00000366994.3 - 4 507 c.403G>A c.(403-405)Gag>Aag p.E135K INTS7_ENST00000366993.3_Missense_Mutation_p.E135K|INTS7_ENST00000440600.2_Missense_Mutation_p.E86K|INTS7_ENST00000366992.3_Missense_Mutation_p.E135K|INTS7_ENST00000469606.1_5'UTR NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 135 snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) TTCTTCCTCTCAGGAATTATT 0.398000 32 123 0 0 0.312237 0 0 OPN5 221391 broad.mit.edu 37 6 47775996 47775996 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:47775996C>T ENST00000489301.2 + 5 948 c.863C>T c.(862-864)tCt>tTt p.S288F OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Missense_Mutation_p.S288F|OPN5_ENST00000371211.2_Missense_Mutation_p.S288F Q6U736 OPN5_HUMAN opsin 5 288 phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity p.S288Y(1) endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 29 ATACAGCTCTCTGTGGTGCCA 0.453000 25 130 0 0 0.382532 0 0 ABHD16A 7920 broad.mit.edu 37 6 31657862 31657862 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:31657862C>T ENST00000375842.4 - 11 1279 c.293G>A c.(292-294)gGa>gAa p.G98E XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Missense_Mutation_p.G284E|ABHD16A_ENST00000395952.3_Missense_Mutation_p.G317E|ABHD16A_ENST00000471644.1_5'UTR O95870 ABHGA_HUMAN abhydrolase domain containing 16A 317 integral to membrane hydrolase activity|protein binding endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 CACCGTGCTTCCAGCAAAGCC 0.542000 8 59 0 0 0.093190 0 0 CASC3 22794 broad.mit.edu 37 17 38297460 38297460 + Splice_Site SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:38297460G>T ENST00000264645.7 + 2 458 c.232G>T c.(232-234)Gag>Tag p.E78* NM_007359.4 NP_031385.2 O15234 CASC3_HUMAN cancer susceptibility candidate 3 78 mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 TTTCTTTCAGGAGAGTGAAGA 0.403000 59 86 2.6465e-34 3.09809e-34 0.323286 1 0 LPAR3 23566 broad.mit.edu 37 1 85279670 85279670 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:85279670C>G ENST00000440886.1 - 2 959 c.921G>C c.(919-921)atG>atC p.M307I LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.M307I Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 307 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 AGCAGCAGATCATCTTCTTCA 0.547000 16 64 0 0 0.189662 0 0 HLCS 3141 broad.mit.edu 37 21 38126702 38126702 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr21:38126702G>C ENST00000399120.1 - 12 3256 c.2026C>G c.(2026-2028)Ctg>Gtg p.L676V HLCS_ENST00000336648.4_Missense_Mutation_p.L676V NM_001242784.1 NP_001229713.1 P50747 BPL1_HUMAN holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 676 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) GCGCTGCCCAGATGGACTTGC 0.557000 12 41 0 0 0.175082 0 0 TMPO 7112 broad.mit.edu 37 12 98927062 98927062 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:98927062G>C ENST00000266732.4 + 4 1265 c.1027G>C c.(1027-1029)Gag>Cag p.E343Q TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000556029.1_Intron|TMPO_ENST00000343315.5_Intron NM_003276.2 NP_003267.1 P42167 LAP2B_HUMAN thymopoietin 249 Binds lamins B.|NAKAP95-binding C.|Nucleoplasmic (Potential). integral to membrane|nuclear inner membrane DNA binding|lamin binding breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 ATTATGTCCTGAGAGGTCCCA 0.418000 27 48 0 0 0.382532 0 0 SH3GLB1 51100 broad.mit.edu 37 1 87208005 87208005 + Silent SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:87208005C>A ENST00000370558.4 + 8 1200 c.876C>A c.(874-876)atC>atA p.I292I SH3GLB1_ENST00000535010.1_Silent_p.I192I|SH3GLB1_ENST00000482504.1_Silent_p.I313I NM_001206651.1|NM_001206653.1|NM_016009.4 NP_001193580.1|NP_001193582.1|NP_057093.1 Q9Y371 SHLB1_HUMAN SH3-domain GRB2-like endophilin B1 292 anti-apoptosis|filopodium assembly|signal transduction Golgi membrane|mitochondrial outer membrane cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1) 11 Lung NSC(277;0.209) all cancers(265;0.0136)|Epithelial(280;0.0414) GCCTAGTAATCACCTCTCCTT 0.438000 36 47 1.30015e-28 1.51299e-28 0.214465 1 0 TCN1 6947 broad.mit.edu 37 11 59623355 59623355 + Missense_Mutation SNP G G C rs146250932 byFrequency TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:59623355G>C ENST00000257264.3 - 6 1028 c.924C>G c.(922-924)tgC>tgG p.C308W TCN1_ENST00000532419.1_Intron NM_001062.3 NP_001053.2 P20061 TCO1_HUMAN transcobalamin I (vitamin B12 binding protein, R binder family) 308 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAGCAGAGACGCAAGAAGAGT 0.443000 20 66 0 0 0.309145 0 0 BRAP 8315 broad.mit.edu 37 12 112123571 112123571 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:112123571C>G ENST00000419234.4 - 1 219 c.26G>C c.(25-27)cGa>cCa p.R9P NM_006768.3 NP_006759.3 Q7Z569 BRAP_HUMAN BRCA1 associated protein 9 MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 20 GAGCTCCAATCGGATAACAAC 0.726000 9 12 0 0 0.361761 0 0 CEP63 80254 broad.mit.edu 37 3 134278032 134278032 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:134278032G>A ENST00000337090.3 + 14 1887 c.1714G>A c.(1714-1716)Gag>Aag p.E572K CEP63_ENST00000332047.5_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.E572K|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.E572K|CEP63_ENST00000383229.3_Intron Q96MT8 CEP63_HUMAN centrosomal protein 63kDa 572 cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 AATAAAGACTGAGCACTACAA 0.433000 56 103 0 0 0.323286 0 0 ADAM11 4185 broad.mit.edu 37 17 42849819 42849819 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:42849819G>C ENST00000535346.1 + 8 765 c.67G>C c.(67-69)Gag>Cag p.E23Q ADAM11_ENST00000200557.6_Silent_p.L221L O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 223 integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) GGCCGAGGCTGAGAAGGAAAA 0.706000 3 7 0 0 0.115264 0 0 LRRTM3 347731 broad.mit.edu 37 10 68687370 68687370 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:68687370G>A ENST00000361320.4 + 2 1274 c.696G>A c.(694-696)caG>caA p.Q232Q CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 232 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 TCAGCCTTCAGAACCTTTACT 0.453000 31 69 0 0 0.183431 0 0 CCT5 22948 broad.mit.edu 37 5 10258507 10258507 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:10258507G>A ENST00000280326.4 + 6 1153 c.733G>A c.(733-735)Gat>Aat p.D245N CCT5_ENST00000506600.1_Missense_Mutation_p.D152N|CCT5_ENST00000515390.1_Missense_Mutation_p.D190N|CCT5_ENST00000515676.1_Missense_Mutation_p.D207N|CCT5_ENST00000503026.1_Missense_Mutation_p.D224N NM_012073.3 NP_036205.1 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 245 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2) 26 GAAAGTGGAAGATGCGAAGAT 0.408000 17 109 0 0 0.219247 0 0 NLRC4 58484 broad.mit.edu 37 2 32461380 32461380 + Silent SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:32461380C>A ENST00000404025.2 - 8 3038 c.2550G>T c.(2548-2550)ctG>ctT p.L850L NLRC4_ENST00000342905.6_Silent_p.L185L|NLRC4_ENST00000360906.5_Silent_p.L850L|NLRC4_ENST00000402280.1_Silent_p.L850L Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 850 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) CAAGAATGCTCAGTTTGACCA 0.303000 20 40 7.87624e-14 8.57377e-14 0.264190 1 0 CDCA5 113130 broad.mit.edu 37 11 64846584 64846584 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:64846584C>G ENST00000275517.3 - 6 926 c.754G>C c.(754-756)Gaa>Caa p.E252Q CDCA5_ENST00000404147.3_Missense_Mutation_p.E307Q NM_080668.3 NP_542399.1 Q96FF9 CDCA5_HUMAN cell division cycle associated 5 252 cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin cytoplasm|nuclear chromatin|plasma membrane chromatin binding|identical protein binding large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GCATCTCATTCAACCAGGAGA 0.572000 14 29 0 0 0.219247 0 0 GPR68 8111 broad.mit.edu 37 14 91701248 91701248 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:91701248C>G ENST00000531499.2 - 2 486 c.147G>C c.(145-147)caG>caC p.Q49H GPR68_ENST00000238699.3_Missense_Mutation_p.Q59H|GPR68_ENST00000535815.1_Missense_Mutation_p.Q49H Q15743 OGR1_HUMAN G protein-coupled receptor 68 49 inflammatory response integral to plasma membrane G-protein coupled receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1) 8 all_cancers(154;0.0555) COAD - Colon adenocarcinoma(157;0.21) GGGCCTTGATCTGCAGGTAGC 0.622000 15 32 0 0 0.219247 0 0 NCOR1P1 149934 broad.mit.edu 37 20 26084296 26084296 + RNA SNP A A G rs61752037 by1000genomes TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr20:26084296A>G ENST00000478176.1 - 0 161 NR_003678.1 p.F40F(1) GTTTGCCTCCAAATGCTGGAT 0.378000 3 55 0 0 0.278610 0 0 CD8A 925 broad.mit.edu 37 2 87017470 87017470 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:87017470G>T ENST00000409511.2 - 5 1414 c.384C>A c.(382-384)ttC>ttA p.F128L CD8A_ENST00000456996.2_Missense_Mutation_p.F128L|CD8A_ENST00000352580.3_Missense_Mutation_p.F128L|CD8A_ENST00000409781.1_Missense_Mutation_p.F128L|CD8A_ENST00000538832.1_Missense_Mutation_p.F169L|CD8A_ENST00000283635.3_Missense_Mutation_p.F128L NM_001145873.1 NP_001139345.1 P01732 CD8A_HUMAN CD8a molecule 128 Ig-like V-type. antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 8 AGACCGGCACGAAGTGGCTGA 0.627000 26 59 3.99451e-17 4.46356e-17 0.382532 1 0 STOML3 161003 broad.mit.edu 37 13 39540963 39540963 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr13:39540963C>T ENST00000379631.4 - 7 1219 c.875G>A c.(874-876)tGa>tAa p.*292* STOML3_ENST00000423210.1_Silent_p.*283* NM_145286.2 NP_660329.1 Q8TAV4 STML3_HUMAN stomatin (EPB72)-like 3 0 integral to membrane|plasma membrane breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 11 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) AAGAGGACCTCAGGCTTTATT 0.443000 29 59 0 0 0.225048 0 0 MYH3 4621 broad.mit.edu 37 17 10539066 10539066 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:10539066C>T ENST00000583535.1 - 29 4048 c.3961G>A c.(3961-3963)Gag>Aag p.E1321K MYH3_ENST00000226209.7_Missense_Mutation_p.E1321K NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1321 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TTCTCTTCCTCCAGCTGCCTC 0.428000 52 77 0 0 0.323286 0 0 NFRKB 4798 broad.mit.edu 37 11 129762708 129762708 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:129762708C>G ENST00000446488.3 - 2 140 c.37G>C c.(37-39)Gaa>Caa p.E13Q NFRKB_ENST00000526940.1_Missense_Mutation_p.E13Q|NFRKB_ENST00000524794.1_Missense_Mutation_p.E26Q|NFRKB_ENST00000524746.1_Missense_Mutation_p.E13Q|NFRKB_ENST00000304521.5_Missense_Mutation_p.E13Q NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 13 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) GGACCAAGTTCCAGAGGATCT 0.517000 29 136 0 0 0.410975 0 0 KIAA0586 9786 broad.mit.edu 37 14 58895165 58895165 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:58895165G>C ENST00000354386.6 + 2 463 c.219G>C c.(217-219)ttG>ttC p.L73F KIAA0586_ENST00000423743.3_Intron|KIAA0586_ENST00000261244.5_Missense_Mutation_p.L61F|KIAA0586_ENST00000556134.1_Missense_Mutation_p.L46F NM_001244189.1 NP_001231118.1 E9PGW8 E9PGW8_HUMAN KIAA0586 61 endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GGACTAGTTTGAATGGAACAT 0.383000 20 55 0 0 0.309145 0 0 SETDB1 9869 broad.mit.edu 37 1 150923439 150923439 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:150923439G>C ENST00000271640.5 + 13 2276 c.2086G>C c.(2086-2088)Gag>Cag p.E696Q SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.E696Q NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 696 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) CTGTGTCAATGAGATTGACAC 0.468000 16 75 0 0 0.279207 0 0 SLC29A3 55315 broad.mit.edu 37 10 73111520 73111520 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:73111520G>C ENST00000373189.5 + 4 637 c.585G>C c.(583-585)atG>atC p.M195I SLC29A3_ENST00000469204.1_3'UTR NM_001174098.1|NM_018344.5 NP_001167569.1|NP_060814.4 Q9BZD2 S29A3_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 3 195 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|late endosome membrane|lysosomal membrane nucleoside transmembrane transporter activity endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 15 CCTTTCCTATGAGGAACTCCC 0.577000 10 17 0 0 0.119110 0 0 HORMAD1 84072 broad.mit.edu 37 1 150687152 150687152 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:150687152G>A ENST00000368993.2 - 4 286 c.181C>T c.(181-183)Ctt>Ttt p.L61F HORMAD1_ENST00000368995.4_Intron|HORMAD1_ENST00000361824.2_Missense_Mutation_p.L61F|HORMAD1_ENST00000322343.7_Missense_Mutation_p.L61F|HORMAD1_ENST00000476530.1_5'UTR Q86X24 HORM1_HUMAN HORMA domain containing 1 61 HORMA. blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly chromosome|nucleus breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3) 16 all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) TTGACACAAAGATCTAAACAC 0.274000 14 59 0 0 0.189662 0 0 C18orf25 147339 broad.mit.edu 37 18 43842948 43842948 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr18:43842948C>T ENST00000282059.6 + 5 1453 c.1079C>T c.(1078-1080)tCg>tTg p.S360L C18orf25_ENST00000321319.6_Missense_Mutation_p.S299L NM_145055.3 NP_659492 Q96B23 CR025_HUMAN chromosome 18 open reading frame 25 360 central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1) 11 AAGCATGGCTCGGGCACGCAG 0.493000 19 113 0 0 0.324025 0 0 ZNF555 148254 broad.mit.edu 37 19 2852858 2852858 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:2852858C>A ENST00000334241.4 + 4 933 c.795C>A c.(793-795)ttC>ttA p.F265L ZNF555_ENST00000591539.1_Missense_Mutation_p.F264L|AC006130.3_ENST00000589365.1_RNA NM_001172775.1|NM_152791.4 NP_001166246.1|NP_690004.4 Q8NEP9 ZN555_HUMAN zinc finger protein 555 265 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4) 23 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) GGAAAGCTTTCAGTTATTCCT 0.408000 9 50 9.70103e-10 1.03501e-09 0.361761 1 0 RIN2 54453 broad.mit.edu 37 20 19977329 19977329 + Missense_Mutation SNP A A G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr20:19977329A>G ENST00000255006.6 + 11 2503 c.2354A>G c.(2353-2355)tAt>tGt p.Y785C RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.Y303C NM_001242581.1|NM_018993.3 NP_001229510.1|NP_061866.1 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 736 endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 TCAGGAGGCTATTACTTGACA 0.498000 15 44 0 0 0.146539 0 0 EHMT1 79813 broad.mit.edu 37 9 140729270 140729270 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr9:140729270C>T ENST00000460843.1 + 27 3789 c.3762C>T c.(3760-3762)ttC>ttT p.F1254F NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 1254 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) GCAAGCTCTTCAGCTGCCGCT 0.672000 14 16 0 0 0.160694 0 0 PIGQ 9091 broad.mit.edu 37 16 624461 624461 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:624461C>T ENST00000321878.5 + 2 546 c.387C>T c.(385-387)atC>atT p.I129I PIGQ_ENST00000409527.2_Silent_p.I129I|PIGQ_ENST00000026218.5_Silent_p.I129I|PIGQ_ENST00000470411.2_Silent_p.I129I NM_004204.3 NP_004195.2 Q9BRB3 PIGQ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Q 129 C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(780;0.00335) TCATGCTCATCTTCTATGACC 0.692000 6 12 0 0 0.278610 0 0 XPO4 64328 broad.mit.edu 37 13 21442798 21442798 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr13:21442798C>G ENST00000400602.2 - 2 147 c.112G>C c.(112-114)Gag>Cag p.E38Q XPO4_ENST00000490513.1_5'UTR|XPO4_ENST00000255305.6_Missense_Mutation_p.E38Q NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 38 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) AATATGTGCTCTGCATGCTGG 0.323000 54 121 0 0 0.323286 0 0 JADE2 23338 broad.mit.edu 37 5 133914845 133914845 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:133914845G>A ENST00000395003.1 + 11 2390 c.2211G>A c.(2209-2211)gaG>gaA p.E737E PHF15_ENST00000282605.4_Silent_p.E781E|PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000361895.2_Silent_p.E738E NM_015288.4 NP_056103.4 Q9NQC1 JADE2_HUMAN 737 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTGTGGCTGAGAGGCCCAAGG 0.622000 9 62 0 0 0.361761 0 0 EXOC3L1 283849 broad.mit.edu 37 16 67218811 67218811 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr16:67218811G>A ENST00000314586.6 - 12 2139 c.1899C>T c.(1897-1899)ctC>ctT p.L633L NM_178516.3 NP_848611.2 Q86VI1 EX3L1_HUMAN exocyst complex component 3-like 1 633 exocytosis|peptide hormone secretion exocyst|stored secretory granule|transport vesicle breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 21 TCACCAAACTGAGGAAAAGCT 0.687000 3 22 0 0 0.115264 0 0 OR2A25 392138 broad.mit.edu 37 7 143771967 143771967 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:143771967C>T ENST00000408898.2 + 1 693 c.655C>T c.(655-657)Cat>Tat p.H219Y NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) ATCTTATGTTCATATTCTATG 0.483000 25 60 0 0 0.294199 0 0 TLR8 51311 broad.mit.edu 37 X 12938564 12938564 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chrX:12938564C>G ENST00000218032.6 + 2 1492 c.1405C>G c.(1405-1407)Cat>Gat p.H469D TLR8_ENST00000311912.5_Missense_Mutation_p.H487D NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 469 cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 GAACTTTTATCATTTCACCCG 0.398000 22 38 0 0 0.368089 0 0 CSRNP3 80034 broad.mit.edu 37 2 166514277 166514277 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:166514277C>G ENST00000314499.7 + 5 531 c.155C>G c.(154-156)tCc>tGc p.S52C CSRNP3_ENST00000342316.4_Missense_Mutation_p.S52C|CSRNP3_ENST00000409420.1_Missense_Mutation_p.S84C NM_001172173.1 NP_001165644.1 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 52 Ser-rich. apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2) 33 TCAGCTTCCTCCATTCTCAAA 0.443000 31 85 0 0 0.268233 0 0 DDR1 780 broad.mit.edu 37 6 30865172 30865172 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:30865172G>C ENST00000324771.8 + 17 2562 c.2014G>C c.(2014-2016)Gag>Cag p.E672Q DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000452441.1_Missense_Mutation_p.E672Q|DDR1_ENST00000376568.3_Missense_Mutation_p.E672Q|DDR1_ENST00000508312.1_Missense_Mutation_p.E653Q|DDR1_ENST00000376567.2_Missense_Mutation_p.E635Q|DDR1_ENST00000361741.4_Missense_Mutation_p.E339Q|DDR1_ENST00000376570.4_Missense_Mutation_p.E635Q|DDR1_ENST00000454612.2_Missense_Mutation_p.E635Q|DDR1_ENST00000376569.3_Missense_Mutation_p.E635Q|DDR1_ENST00000418800.2_Missense_Mutation_p.E635Q|DDR1_ENST00000513240.1_Missense_Mutation_p.E678Q|DDR1_ENST00000376575.3_Missense_Mutation_p.E678Q Q08345 DDR1_HUMAN discoidin domain receptor tyrosine kinase 1 672 Protein kinase. cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) TTTCCTGAAAGAGGTGAAGAT 0.587000 16 58 0 0 0.219247 0 0 MALAT1 378938 broad.mit.edu 37 11 65272949 65272949 + RNA SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:65272949G>T ENST00000534336.1 + 0 7717 NR_002819.2 GGGAAAGGGGGAAAGCGGGCA 0.488000 20 70 4.26978e-12 4.60543e-12 0.279207 1 0 CREB5 9586 broad.mit.edu 37 7 28534602 28534602 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:28534602G>C ENST00000357727.2 + 3 544 c.154G>C c.(154-156)Gac>Cac p.D52H CREB5_ENST00000396300.2_Missense_Mutation_p.D45H|CREB5_ENST00000396299.2_Missense_Mutation_p.D19H|CREB5_ENST00000409603.1_Missense_Mutation_p.D19H NM_182898.2 NP_878901.2 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 52 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 AATAAAAACAGACAATATGTT 0.408000 23 42 0 0 0.294199 0 0 CC2D1B 200014 broad.mit.edu 37 1 52825538 52825538 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:52825538C>G ENST00000371586.2 - 8 919 c.781G>C c.(781-783)Gag>Cag p.E261Q CC2D1B_ENST00000284376.3_Missense_Mutation_p.E261Q|CC2D1B_ENST00000460261.1_Intron|CC2D1B_ENST00000438831.1_5'UTR NM_032449.2 NP_115825.1 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B 261 Pro-rich. breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 27 AGGCTGGTCTCAGGTTGGGAG 0.572000 3 19 0 0 0.150653 0 0 DNAH5 1767 broad.mit.edu 37 5 13708301 13708301 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:13708301G>A ENST00000265104.4 - 76 13373 c.13269C>T c.(13267-13269)atC>atT p.I4423I NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4423 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTTCGCTCATGATGATGGTGC 0.458000 Kartagener syndrome 73 198 0 0 0.323286 0 0 NES 10763 broad.mit.edu 37 1 156640696 156640696 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:156640696G>A ENST00000368223.3 - 4 3416 c.3284C>T c.(3283-3285)gCg>gTg p.A1095V NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1095 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTCAGCTCCCGCAGCAGACTC 0.662000 17 44 0 0 0.160694 0 0 DCP1B 196513 broad.mit.edu 37 12 2061674 2061674 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:2061674G>A ENST00000280665.6 - 7 1511 c.1432C>T c.(1432-1434)Cct>Tct p.P478S DCP1B_ENST00000540622.1_Missense_Mutation_p.P352S|DCP1B_ENST00000397173.4_Missense_Mutation_p.P376S NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 478 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) GCGAGCACAGGAAACTTAGCG 0.512000 17 35 0 0 0.160694 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 4 95 0 0 0.150653 0 0 PCDH12 51294 broad.mit.edu 37 5 141336269 141336269 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:141336269G>A ENST00000231484.3 - 1 2358 c.1148C>T c.(1147-1149)tCa>tTa p.S383L NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 383 Cadherin 4. neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTGTGTCCTGAATCCAAGTC 0.507000 20 94 0 0 0.264190 0 0 LCTL 197021 broad.mit.edu 37 15 66845384 66845384 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:66845384G>T ENST00000341509.5 - 9 1266 c.1135C>A c.(1135-1137)Ctg>Atg p.L379M LCTL_ENST00000537670.1_Missense_Mutation_p.L206M NM_207338.2 NP_997221.2 Q6UWM7 LCTL_HUMAN lactase-like 379 carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TTAGACCCCAGATCTGGCCAG 0.493000 16 100 4.96729e-08 5.25215e-08 0.204396 1 0 ZNF547 284306 broad.mit.edu 37 19 57888951 57888951 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:57888951C>G ENST00000282282.3 + 4 757 c.607C>G c.(607-609)Cag>Gag p.Q203E AC003002.4_ENST00000597658.1_Intron NM_173631.2 NP_775902.2 Q8IVP9 ZN547_HUMAN zinc finger protein 547 203 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 12 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CAATAGACATCAGAGAACTCA 0.418000 28 39 0 0 0.183431 0 0 UTP20 27340 broad.mit.edu 37 12 101682793 101682793 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:101682793G>C ENST00000261637.4 + 6 745 c.571G>C c.(571-573)Gaa>Caa p.E191Q NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 191 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 TTTTGCTGCTGAAAGTTTTAC 0.328000 8 29 0 0 0.335167 0 0 TP53BP2 7159 broad.mit.edu 37 1 223983678 223983678 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:223983678C>T ENST00000391878.2 - 14 2944 c.2176G>A c.(2176-2178)Gaa>Aaa p.E726K TP53BP2_ENST00000391879.2_Missense_Mutation_p.E88K|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Missense_Mutation_p.E855K NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 849 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) TTTGGTTCTTCTGGGTTATTC 0.547000 15 89 0 0 0.189662 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 5 248 0 0 0.184627 0 0 SOD1 6647 broad.mit.edu 37 21 33039670 33039670 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr21:33039670C>T ENST00000270142.6 + 4 487 c.339C>T c.(337-339)atC>atT p.I113I SOD1_ENST00000470944.1_3'UTR|SOD1_ENST00000389995.4_Silent_p.I94I NM_000454.4 NP_000445.1 P00441 SODC_HUMAN superoxide dismutase 1, soluble 113 I -> M (in ALS1).|I -> T (in ALS1). activation of MAPK activity|auditory receptor cell stereocilium organization|cell aging|cellular iron ion homeostasis|DNA fragmentation involved in apoptotic nuclear change|double-strand break repair|embryo implantation|glutathione metabolic process|heart contraction|hydrogen peroxide biosynthetic process|locomotory behavior|muscle cell homeostasis|myeloid cell homeostasis|negative regulation of cholesterol biosynthetic process|negative regulation of neuron apoptosis|neurofilament cytoskeleton organization|ovarian follicle development|peripheral nervous system myelin maintenance|placenta development|platelet activation|platelet degranulation|positive regulation of cytokine production|regulation of blood pressure|regulation of mitochondrial membrane potential|regulation of multicellular organism growth|regulation of organ growth|regulation of T cell differentiation in thymus|relaxation of vascular smooth muscle|removal of superoxide radicals|response to axon injury|response to drug|response to ethanol|response to heat|response to hydrogen peroxide|retina homeostasis|sensory perception of sound|spermatogenesis|thymus development cytoplasmic vesicle|cytosol|dendrite cytoplasm|extracellular matrix|extracellular space|mitochondrial matrix|neuronal cell body|nucleus|peroxisome|protein complex chaperone binding|copper ion binding|protein homodimerization activity|protein phosphatase 2B binding|superoxide dismutase activity|zinc ion binding NS(1)|endometrium(2)|kidney(1) 4 ACCATTGCATCATTGGCCGCA 0.428000 21 165 0 0 0.353513 0 0 PAQR6 79957 broad.mit.edu 37 1 156215947 156215947 + Translation_Start_Site SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:156215947G>A ENST00000335852.1 - 0 308 PAQR6_ENST00000356983.2_De_novo_Start_InFrame|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000292291.5_Missense_Mutation_p.T49M|PAQR6_ENST00000368270.1_Missense_Mutation_p.T25M|PAQR6_ENST00000540423.1_Missense_Mutation_p.T46M NM_024897.3 NP_079173.2 Q6TCH4 PAQR6_HUMAN progestin and adipoQ receptor family member VI integral to membrane receptor activity lung(4)|ovary(1) 5 Hepatocellular(266;0.158) GATGTTGACCGTCTCGTTGGT 0.647000 23 43 0 0 0.309145 0 0 BARHL2 343472 broad.mit.edu 37 1 91182500 91182500 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:91182500G>A ENST00000370445.4 - 1 294 c.253C>T c.(253-255)Cat>Tat p.H85Y NM_020063.1 NP_064447.1 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 85 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) AGGTGGTGATGATGCTGGGTC 0.657000 10 16 0 0 0.361761 0 0 MC4R 4160 broad.mit.edu 37 18 58038833 58038833 + Silent SNP C C T rs13447339 TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr18:58038833C>T ENST00000299766.3 - 1 1168 c.750G>A c.(748-750)ctG>ctA p.L250L NM_005912.2 NP_005903.2 P32245 MC4R_HUMAN melanocortin 4 receptor 250 feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process integral to membrane|plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(73;0.0946) AGACGCCAATCAGGATGGTCA 0.498000 23 29 0 0 0.324025 0 0 CELSR3 1951 broad.mit.edu 37 3 48694197 48694197 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:48694197G>C ENST00000544264.1 - 2 4613 c.4333C>G c.(4333-4335)Cgc>Ggc p.R1445G CELSR3_ENST00000164024.4_Missense_Mutation_p.R1445G Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 1445 EGF-like 2; calcium-binding. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CCGCCGTTGCGACATGGGTTG 0.711000 2 8 0 0 0.115264 0 0 ACIN1 22985 broad.mit.edu 37 14 23530572 23530572 + Nonsense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr14:23530572G>C ENST00000262710.1 - 17 3860 c.3533C>G c.(3532-3534)tCa>tGa p.S1178* ACIN1_ENST00000555053.1_Nonsense_Mutation_p.S1165*|ACIN1_ENST00000457657.1_Nonsense_Mutation_p.S1138*|ACIN1_ENST00000338631.6_Nonsense_Mutation_p.S451*|ACIN1_ENST00000605057.1_Nonsense_Mutation_p.S1120*|ACIN1_ENST00000557515.1_Nonsense_Mutation_p.S419*|ACIN1_ENST00000397341.3_Nonsense_Mutation_p.S420*|ACIN1_ENST00000357481.2_Nonsense_Mutation_p.S420* NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 1178 Arg/Asp/Glu/Lys-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) ACGGGACCTTGATCGGGAACG 0.567000 33 105 0 0 0.235728 0 0 GPLD1 2822 broad.mit.edu 37 6 24486344 24486344 + Missense_Mutation SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr6:24486344C>T ENST00000230036.1 - 2 222 c.112G>A c.(112-114)Gag>Aag p.E38K GPLD1_ENST00000474784.1_5'UTR NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 38 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 TGAAGAAACTCCAGAGCTCTG 0.323000 20 129 0 0 0.382532 0 0 HCST 10870 broad.mit.edu 37 19 36394703 36394703 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:36394703C>G ENST00000246551.4 + 3 253 c.139C>G c.(139-141)Ctg>Gtg p.L47V HCST_ENST00000437550.2_Missense_Mutation_p.L47V Q9UBK5 HCST_HUMAN hematopoietic cell signal transducer 47 regulation of immune response integral to membrane|plasma membrane lung(4) 4 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GTCCCTCTCTCTGCCGCTCCT 0.682000 5 32 0 0 0.278610 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6534204 6534204 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:6534204C>G ENST00000377748.1 - 8 1188 c.691G>C c.(691-693)Gag>Cag p.E231Q PLEKHG5_ENST00000377740.3_Missense_Mutation_p.E231Q|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.E154Q|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.E154Q|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.E191Q|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.E210Q|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.E154Q|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.E223Q|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.E154Q|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.E154Q|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.E154Q|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.E233Q NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 210 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) ACCTTGCCCTCATCTCCAGGC 0.677000 9 35 0 0 0.093190 0 0 SLC23A3 151295 broad.mit.edu 37 2 220034633 220034633 + Missense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr2:220034633G>T ENST00000455516.2 - 1 121 c.74C>A c.(73-75)cCa>cAa p.P25Q SLC23A3_ENST00000396775.3_5'UTR|SLC23A3_ENST00000295738.7_Missense_Mutation_p.P25Q|SLC23A3_ENST00000409878.3_Missense_Mutation_p.P25Q NM_001144890.1 NP_001138362.1 Q6PIS1 S23A3_HUMAN solute carrier family 23, member 3 25 transmembrane transport integral to membrane protein binding|transporter activity endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 11 Renal(207;0.0474) Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGAGCAGGTGGAGGCAAGGG 0.612000 4 35 0.150653 0.151682 0.150653 1 0 IGDCC4 57722 broad.mit.edu 37 15 65680830 65680830 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr15:65680830G>C ENST00000352385.2 - 16 3011 c.2802C>G c.(2800-2802)ttC>ttG p.F934L NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 934 Fibronectin type-III 5. integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 GCAGGCGGGAGAAAGGCCCAG 0.602000 59 169 0 0 0.323286 0 0 PTPN13 5783 broad.mit.edu 37 4 87622590 87622590 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr4:87622590C>G ENST00000436978.1 + 7 1311 c.831C>G c.(829-831)ttC>ttG p.F277L PTPN13_ENST00000316707.6_Missense_Mutation_p.F277L|PTPN13_ENST00000411767.2_Missense_Mutation_p.F277L|PTPN13_ENST00000511467.1_Missense_Mutation_p.F277L|PTPN13_ENST00000427191.2_Missense_Mutation_p.F277L NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 277 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) CTTACCAGTTCAAAACTAGTG 0.393000 7 11 0 0 0.307466 0 0 NOP16 51491 broad.mit.edu 37 5 175811345 175811345 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr5:175811345G>C ENST00000389158.5 - 5 859 c.424C>G c.(424-426)Caa>Gaa p.Q142E NOP16_ENST00000507413.1_Intron|NOP16_ENST00000510123.1_Intron Q9Y3C1 NOP16_HUMAN NOP16 nucleolar protein 142 nucleolus central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1) 8 GGGGTATCTTGATAGTAATTC 0.448000 6 45 0 0 0.217242 0 0 TSGA13 114960 broad.mit.edu 37 7 130353957 130353957 + Nonsense_Mutation SNP G G T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:130353957G>T ENST00000456951.1 - 9 1576 c.725C>A c.(724-726)tCg>tAg p.S242* TSGA13_ENST00000356588.3_Nonsense_Mutation_p.S242* Q96PP4 TSG13_HUMAN testis specific, 13 242 endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(18;0.0435) TTCCAAGAGCGATGCGAGTGT 0.582000 32 72 3.86903e-22 4.45845e-22 0.173368 1 0 GTF2F1 2962 broad.mit.edu 37 19 6392882 6392882 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:6392882G>A ENST00000394456.5 - 2 509 c.45C>T c.(43-45)gtC>gtT p.V15V NM_002096.2 NP_002087.2 P35269 T2FA_HUMAN general transcription factor IIF, polypeptide 1, 74kDa 15 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cell junction|transcription factor TFIIF complex catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4) 16 GAACTCGAACGACGTATTCAG 0.587000 OREG0025199 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 186 0 0 0.323286 0 0 PTPRB 5787 broad.mit.edu 37 12 70956762 70956762 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr12:70956762G>C ENST00000334414.6 - 16 4074 c.4030C>G c.(4030-4032)Ctc>Gtc p.L1344V PTPRB_ENST00000550857.1_Missense_Mutation_p.L1036V|PTPRB_ENST00000451516.2_Missense_Mutation_p.L1036V|PTPRB_ENST00000261266.5_Missense_Mutation_p.L1126V|PTPRB_ENST00000550358.1_Missense_Mutation_p.L1256V|PTPRB_ENST00000538708.1_Missense_Mutation_p.L1036V|PTPRB_ENST00000551525.1_Missense_Mutation_p.L1343V NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1126 Fibronectin type-III 15. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CTCTCCTGGAGATTCCCATCT 0.512000 8 60 0 0 0.307466 0 0 SIK2 23235 broad.mit.edu 37 11 111594445 111594445 + Silent SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:111594445C>G ENST00000304987.3 + 15 2546 c.2373C>G c.(2371-2373)ctC>ctG p.L791L NM_015191.1 NP_056006.1 Q9H0K1 SIK2_HUMAN salt-inducible kinase 2 791 intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 30 GCCCTTTCCTCAGCCAGTACC 0.662000 136 297 0 0 0.323286 0 0 SHANK2 22941 broad.mit.edu 37 11 70332669 70332669 + Silent SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr11:70332669G>A ENST00000338508.4 - 32 3731 c.3732C>T c.(3730-3732)ctC>ctT p.L1244L SHANK2_ENST00000409161.1_Silent_p.L647L|SHANK2_ENST00000423696.2_Silent_p.L864L|SHANK2_ENST00000449833.2_Silent_p.L648L Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 864 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GAGGTTTGTTGAGGTCGGCCT 0.632000 8 97 0 0 0.361761 0 0 MLLT10 8028 broad.mit.edu 37 10 21962735 21962735 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:21962735C>G ENST00000377072.3 + 11 1856 c.1508C>G c.(1507-1509)tCt>tGt p.S503C MLLT10_ENST00000377059.3_Missense_Mutation_p.S503C|MLLT10_ENST00000446906.2_Missense_Mutation_p.S503C|MLLT10_ENST00000307729.7_Missense_Mutation_p.S503C NM_004641.3 NP_004632.1 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 503 DNA-binding. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 CCAACATCATCTGTAGCATCA 0.433000 T """MLL, PICALM, CDK6""" AL 27 76 0 0 0.368089 0 0 CALHM2 51063 broad.mit.edu 37 10 105207266 105207266 + Silent SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr10:105207266G>C ENST00000260743.5 - 4 1138 c.615C>G c.(613-615)ctC>ctG p.L205L CALHM2_ENST00000369788.3_Silent_p.L205L NM_015916.4 NP_057000.2 Q9HA72 CAHM2_HUMAN calcium homeostasis modulator 2 205 integral to membrane NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1) 11 AGTAATGCTTGAGGCACTTGG 0.617000 3 38 0 0 0.150653 0 0 FAM134C 162427 broad.mit.edu 37 17 40733844 40733844 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr17:40733844G>C ENST00000309428.5 - 9 1447 c.1388C>G c.(1387-1389)tCt>tGt p.S463C FAM134C_ENST00000543197.1_Missense_Mutation_p.S268C|FAM134C_ENST00000585894.1_Missense_Mutation_p.S366C NM_178126.3 NP_835227.1 Q86VR2 F134C_HUMAN family with sequence similarity 134, member C 463 integral to membrane endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 11 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.134) GTGGCTCCTAGAACTGGCAGG 0.547000 16 34 0 0 0.189662 0 0 NWD1 284434 broad.mit.edu 37 19 16860125 16860125 + Silent SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:16860125C>G ENST00000524140.2 + 6 1090 c.672C>G c.(670-672)ctC>ctG p.L224L NWD1_ENST00000552788.1_Silent_p.L224L|NWD1_ENST00000523826.1_Silent_p.L18L|NWD1_ENST00000339803.6_Silent_p.L89L|NWD1_ENST00000549814.1_Silent_p.L224L|NWD1_ENST00000379808.3_Silent_p.L224L NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 224 ATP binding p.L224L(1)|p.L89L(1) NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 AGAACCTTCTCAGCAGCCTCA 0.587000 12 64 0 0 0.093190 0 0 RPTN 126638 broad.mit.edu 37 1 152128385 152128388 + Frame_Shift_Del DEL TGTC TGTC - TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr1:152128385_152128388delTGTC ENST00000316073.3 - 3 1251_1254 c.1187_1190delGACA c.(1186-1191)agacaafs p.RQ396fs NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 396 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 ACTTTGGTCTTGTCTGTCTGTCTG 0.505 8 1501 --- --- --- --- USP4 7375 broad.mit.edu 37 3 49362440 49362441 + Frame_Shift_Ins INS - - A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr3:49362440_49362441insA ENST00000351842.4 - 5 527_528 c.519_520insT c.(517-522)ttcaacfs p.N174fs USP4_ENST00000415188.1_Frame_Shift_Ins_p.N174fs|USP4_ENST00000416417.1_Frame_Shift_Ins_p.N174fs|USP4_ENST00000265560.4_Frame_Shift_Ins_p.N174fs NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 174 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) GCAGGGATGTTGAATAGCTTCC 0.500 52 162 --- --- --- --- PAXIP1 22976 broad.mit.edu 37 7 154760267 154760269 + In_Frame_Del DEL CTG CTG - TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr7:154760267_154760269delCTG ENST00000404141.1 - 7 1796_1798 c.1642_1644delCAG c.(1642-1644)cagdel p.Q548del PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_In_Frame_Del_p.Q548del Q6ZW49 PAXI1_HUMAN PAX interacting (with transcription-activation domain) protein 1 548 Gln-rich. DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent histone methyltransferase complex|nuclear matrix NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 33 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0296) UCEC - Uterine corpus endometrioid carcinoma (81;0.178) GACTTTGCATctgctgctgctgc 0.626 4 4 --- --- --- --- SUPT5H 6829 broad.mit.edu 37 19 39962359 39962359 + Frame_Shift_Del DEL G G - TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07db4596-cb49-4a32-bc99-3b202ffe61a2 1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd g.chr19:39962359delG ENST00000599117.1 + 21 2306 c.1939delG c.(1939-1941)gggfs p.G648fs SUPT5H_ENST00000359191.6_Frame_Shift_Del_p.G644fs|SUPT5H_ENST00000432763.2_Frame_Shift_Del_p.G648fs|SUPT5H_ENST00000402194.2_Frame_Shift_Del_p.G644fs|SUPT5H_ENST00000598725.1_Frame_Shift_Del_p.G648fs O00267 SPT5H_HUMAN suppressor of Ty 5 homolog (S. cerevisiae) 648 cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GGTGCTGGCTGGGGGCTCAAA 0.587 15 40 --- --- --- ---