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 PUS1 80324 broad.mit.edu 37 12 132426187 132426187 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:132426187G>A ENST00000542167.2 + 4 1489 c.736G>A c.(736-738)Ggc>Agc p.G246S PUS1_ENST00000376649.3_Missense_Mutation_p.G299S|PUS1_ENST00000440818.2_Missense_Mutation_p.G271S|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000443358.2_Missense_Mutation_p.G271S Q9Y606 TRUA_HUMAN pseudouridylate synthase 1 299 mitochondrion pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 11 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07) GAAGATGGTCGGCCTGGTGGT 0.622000 18 74 0 0 0.008871 0 0 STS 412 broad.mit.edu 37 X 7223214 7223214 + Silent SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:7223214G>A ENST00000217961.4 + 7 1306 c.1086G>A c.(1084-1086)ggG>ggA p.G362G NM_000351.4 NP_000342.2 P08842 STS_HUMAN steroid sulfatase (microsomal), isozyme S 362 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) GAAGTAATGGGATCTATAAAG 0.448000 Ichthyosis 12 207 0 0 0.013537 0 0 SLC24A4 123041 broad.mit.edu 37 14 92908474 92908474 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr14:92908474G>T ENST00000532405.1 + 5 661 c.435G>T c.(433-435)atG>atT p.M145I SLC24A4_ENST00000298877.1_Missense_Mutation_p.M128I|SLC24A4_ENST00000531433.1_Missense_Mutation_p.M145I|SLC24A4_ENST00000393265.2_Missense_Mutation_p.M81I|SLC24A4_ENST00000351924.5_Missense_Mutation_p.M128I Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 145 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) CCACCTTCATGGCTGCAGGAA 0.547000 5 72 0.00116845 0.00125644 0.021553 1 0 ITIH1 3697 broad.mit.edu 37 3 52811656 52811656 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:52811656G>A ENST00000273283.2 + 1 49 c.25G>A c.(25-27)Ggg>Agg p.G9R ITIH1_ENST00000542827.1_Missense_Mutation_p.G9R NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 9 hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) GGGGCCTCGGGGGCTGCTGTT 0.567000 14 75 0 0 0.024245 0 0 MBD6 114785 broad.mit.edu 37 12 57919610 57919610 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:57919610C>G ENST00000355673.3 + 6 1215 c.859C>G c.(859-861)Cag>Gag p.Q287E MBD6_ENST00000431731.2_Missense_Mutation_p.Q287E NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 287 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 TCCTGCCTCTCAGCCACCAGT 0.667000 6 48 0 0 0.001984 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6086622 6086622 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:6086622C>T ENST00000409021.3 - 5 1354 c.905G>A c.(904-906)cGg>cAg p.R302Q JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R137Q|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R302Q|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.R137Q|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R302Q|JAKMIP1_ENST00000457227.2_5'UTR NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 302 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TTCCAGCTTCCGTATCACTGA 0.423000 47 576 0 0 0.014410 0 0 IGSF9 57549 broad.mit.edu 37 1 159904086 159904086 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:159904086G>A ENST00000368094.1 - 9 1195 c.998C>T c.(997-999)cCc>cTc p.P333L IGSF9_ENST00000361509.3_Intron NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 333 Ig-like 4. cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) TATGGGCAGGGGTGTCTCAGG 0.652000 3 33 0 0 0.004672 0 0 COL5A2 1290 broad.mit.edu 37 2 189922115 189922115 + Silent SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:189922115G>T ENST00000374866.3 - 34 2542 c.2268C>A c.(2266-2268)ggC>ggA p.G756G NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 756 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) GACCTGGTGGGCCTGTATCTC 0.423000 16 147 4.72057e-08 5.88214e-08 0.021523 1 0 SOAT1 6646 broad.mit.edu 37 1 179304777 179304777 + Missense_Mutation SNP A A G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:179304777A>G ENST00000367619.3 + 4 457 c.314A>G c.(313-315)aAc>aGc p.N105S SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000539888.1_Missense_Mutation_p.N40S|SOAT1_ENST00000540564.1_Missense_Mutation_p.N47S NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 105 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) GGAGAGAAAAACAACCATAGA 0.378000 10 161 0 0 0.006214 0 0 NLRP2 55655 broad.mit.edu 37 19 55508738 55508738 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:55508738T>A ENST00000543010.1 + 12 3076 c.2933T>A c.(2932-2934)cTc>cAc p.L978H NLRP2_ENST00000391721.4_Missense_Mutation_p.L954H|NLRP2_ENST00000538819.1_Missense_Mutation_p.L954H|NLRP2_ENST00000448584.2_Missense_Mutation_p.L978H|NLRP2_ENST00000427260.2_Missense_Mutation_p.L955H|NLRP2_ENST00000537859.1_Missense_Mutation_p.L956H|NLRP2_ENST00000263437.6_Missense_Mutation_p.L975H|NLRP2_ENST00000339757.7_Missense_Mutation_p.L956H NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 978 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) TGCTCTGCCCTCAGCTGCAAC 0.532000 38 154 0 0 0.007835 0 0 SYN3 8224 broad.mit.edu 37 22 33402347 33402347 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr22:33402347G>T ENST00000358763.2 - 2 543 c.301C>A c.(301-303)Cat>Aat p.H101N SYN3_ENST00000332840.5_Missense_Mutation_p.H101N NM_001135774.1 NP_001129246.1 O14994 SYN3_HUMAN synapsin III 101 C; actin-binding and synaptic-vesicle binding. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 CAGTCTGTATGGGCATCATCG 0.547000 35 212 2.2871e-25 3.30907e-25 0.007835 1 0 KCNK13 56659 broad.mit.edu 37 14 90651009 90651009 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr14:90651009G>T ENST00000282146.4 + 2 1330 c.889G>T c.(889-891)Ggg>Tgg p.G297W NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 297 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) AATGGACAGCGGGTGCTGCCC 0.532000 14 90 1.5842e-08 2.0085e-08 0.016723 1 0 OLFM3 118427 broad.mit.edu 37 1 102269892 102269892 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:102269892T>A ENST00000370103.4 - 6 1492 c.1279A>T c.(1279-1281)Aat>Tat p.N427Y OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.N447Y|OLFM3_ENST00000462354.1_5'UTR NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 447 Olfactomedin-like. extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) TCTCTTGCATTGTAGTCAAGC 0.438000 40 537 0 0 0.009718 0 0 DPYSL5 56896 broad.mit.edu 37 2 27167549 27167549 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:27167549G>C ENST00000288699.6 + 12 1624 c.1466G>C c.(1465-1467)cGc>cCc p.R489P DPYSL5_ENST00000401478.1_Missense_Mutation_p.R489P NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 489 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGAGTGGACCGCACTCCCTAC 0.557000 57 169 0 0 0.014410 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19856891 19856891 + RNA SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr14:19856891C>A ENST00000548109.1 + 0 72 GTTTAATTAGCCCAACTTCTG 0.368000 4 39 9.31168e-06 1.08284e-05 0.016723 1 0 MDGA2 161357 broad.mit.edu 37 14 47343335 47343335 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr14:47343335C>A ENST00000426342.1 - 13 2358 c.1612G>T c.(1612-1614)Gac>Tac p.D538Y MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000399232.2_Missense_Mutation_p.D836Y|MDGA2_ENST00000357362.3_Missense_Mutation_p.D538Y|MDGA2_ENST00000439988.2_Missense_Mutation_p.D767Y NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 767 spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 TTTGTCCAGTCAAAATTATCT 0.328000 8 105 2.17888e-05 2.49711e-05 0.006214 1 0 SHFM1 7979 broad.mit.edu 37 7 96318259 96318259 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:96318259C>T ENST00000248566.2 - 3 317 c.190G>A c.(190-192)Ggt>Agt p.G64S SHFM1_ENST00000444799.1_Intron|SHFM1_ENST00000413065.1_Intron|SHFM1_ENST00000417009.1_Intron NM_006304.1 NP_006295.1 P60896 DSS1_HUMAN split hand/foot malformation (ectrodactyly) type 1 64 proteolysis proteasome complex peptidase activity|protein binding breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987) ATCTTATAACCATGTTTCTCT 0.333000 Homologous recombination 50 204 0 0 0.014410 0 0 OR2T1 26696 broad.mit.edu 37 1 248569766 248569766 + Silent SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:248569766T>A ENST00000366474.1 + 1 471 c.471T>A c.(469-471)ctT>ctA p.L157L NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACCTTACCCTTGTGGGAGCTG 0.517000 38 150 0 0 0.027894 0 0 ATP4A 495 broad.mit.edu 37 19 36054344 36054344 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:36054344C>A ENST00000262623.3 - 2 126 c.98G>T c.(97-99)gGt>gTt p.G33V NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 33 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) ACCCCCGCCACCCGCCTTCTT 0.602000 11 496 2.31682e-05 2.65171e-05 0.024245 1 0 OR1E1 8387 broad.mit.edu 37 17 3301516 3301516 + Silent SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:3301516G>T ENST00000322608.2 - 1 188 c.189C>A c.(187-189)ctC>ctA p.L63L NM_003553.2 NP_003544.2 P30953 OR1E1_HUMAN olfactory receptor, family 1, subfamily E, member 1 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(2)|lung(5) 10 ACAAGTTGCTGAGAAACAAAT 0.502000 12 227 5.50884e-06 6.4319e-06 0.013537 1 0 OR56A4 120793 broad.mit.edu 37 11 6024219 6024219 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:6024219C>T ENST00000330728.4 - 1 205 c.160G>A c.(160-162)Gca>Aca p.A54T NM_001005179.2 NP_001005179.2 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, member 4 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 32 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGGGAGATGCCATGTAAAGT 0.473000 5 240 0 0 0.001984 0 0 FBXO45 200933 broad.mit.edu 37 3 196311060 196311060 + Silent SNP A A G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:196311060A>G ENST00000311630.6 + 3 1029 c.732A>G c.(730-732)gaA>gaG p.E244E FBXO45_ENST00000440469.1_Silent_p.E65E NM_001105573.1 NP_001099043.1 P0C2W1 FBSP1_HUMAN F-box protein 45 244 B30.2/SPRY. nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus cell junction|postsynaptic membrane|presynaptic membrane protein binding cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 7 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00314) TAGCTTTTGAACGTGGATATG 0.418000 9 73 0 0 0.008291 0 0 FNDC7 163479 broad.mit.edu 37 1 109270445 109270445 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:109270445G>C ENST00000370017.3 + 7 1404 c.1127G>C c.(1126-1128)aGt>aCt p.S376T FNDC7_ENST00000271311.2_Missense_Mutation_p.S377T NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 377 Fibronectin type-III 5. extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) TGTTGTCCTAGTGACATTAAC 0.542000 29 347 0 0 0.015359 0 0 NRXN1 9378 broad.mit.edu 37 2 50765550 50765550 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:50765550C>A ENST00000404971.1 - 11 3443 c.2104G>T c.(2104-2106)Gtt>Ttt p.V702F NRXN1_ENST00000406859.3_Missense_Mutation_p.V662F|NRXN1_ENST00000401669.2_Missense_Mutation_p.V662F|NRXN1_ENST00000406316.2_Missense_Mutation_p.V662F|NRXN1_ENST00000405472.3_Missense_Mutation_p.V654F|NRXN1_ENST00000402717.3_Missense_Mutation_p.V654F|NRXN1_ENST00000331040.5_5'UTR NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 662 EGF-like 2. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GTACTTTGAACTTCAGCCATT 0.507000 205 611 5.35632e-87 7.92081e-87 0.014410 1 0 CSMD3 114788 broad.mit.edu 37 8 113599413 113599413 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr8:113599413T>A ENST00000297405.5 - 23 4011 c.3767A>T c.(3766-3768)aAt>aTt p.N1256I CSMD3_ENST00000352409.3_Missense_Mutation_p.N1256I|CSMD3_ENST00000343508.3_Missense_Mutation_p.N1216I|CSMD3_ENST00000455883.2_Missense_Mutation_p.N1152I NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1256 CUB 7. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GAGTGGATAATTTGGAGACAG 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 15 188 0 0 0.020292 0 0 SCNN1G 6340 broad.mit.edu 37 16 23197816 23197816 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr16:23197816T>A ENST00000300061.2 + 2 367 c.224T>A c.(223-225)gTc>gAc p.V75D NM_001039.3 NP_001030.2 P51170 SCNNG_HUMAN sodium channel, non-voltage-gated 1, gamma subunit 75 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) GCCCTCCTCGTCTTCTCCTTC 0.582000 4 108 0 0 0.009096 0 0 COL19A1 1310 broad.mit.edu 37 6 70639393 70639393 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:70639393A>T ENST00000322773.4 + 6 569 c.467A>T c.(466-468)tAc>tTc p.Y156F NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 156 TSP N-terminal. cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 GTGTTGAACTACATTTTTAGA 0.368000 29 235 0 0 0.015359 0 0 CD68 968 broad.mit.edu 37 17 7484735 7484735 + Missense_Mutation SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:7484735T>C ENST00000250092.6 + 6 1182 c.971T>C c.(970-972)cTc>cCc p.L324P CD68_ENST00000380498.6_Missense_Mutation_p.L297P NM_001251.2 NP_001242.2 P34810 CD68_HUMAN CD68 molecule 324 endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane endometrium(1)|lung(1)|skin(1) 3 TTGCTGCCTCTCATCATCGGC 0.577000 3 119 0 0 0.009096 0 0 OR52B4 143496 broad.mit.edu 37 11 4388801 4388801 + Missense_Mutation SNP G G A rs139777859 by1000genomes TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:4388801G>A ENST00000408920.2 - 1 815 c.725C>T c.(724-726)aCa>aTa p.T242I NM_001005161.3 NP_001005161.2 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, member 4 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) GGAGCCAAATGTGTTGAGAGC 0.448000 26 256 0 0 0.006320 0 0 DUOXA1 90527 broad.mit.edu 37 15 45412317 45412317 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr15:45412317C>A ENST00000558996.1 - 5 675 c.621G>T c.(619-621)tgG>tgT p.W207C DUOXA1_ENST00000560572.1_Missense_Mutation_p.W252C|DUOXA1_ENST00000430224.2_Missense_Mutation_p.W207C|DUOXA1_ENST00000267803.4_Missense_Mutation_p.W252C|DUOXA1_ENST00000558422.1_Missense_Mutation_p.W207C|DUOXA1_ENST00000559014.1_Missense_Mutation_p.W252C NM_001276267.1|NM_001276268.1 NP_001263196.1|NP_001263197.1 Q1HG43 DOXA1_HUMAN dual oxidase maturation factor 1 252 protein transport endoplasmic reticulum membrane|integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686) TCAATGTGATCCAGAAGGCAG 0.577000 37 213 8.69298e-16 1.19804e-15 0.027894 1 0 TRAK1 22906 broad.mit.edu 37 3 42260986 42260986 + Splice_Site SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:42260986C>T ENST00000327628.5 + 15 2364 c.1963_splice c.e15-1 p.A655_splice TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Splice_Site_p.A597_splice NM_001042646.2 NP_001036111.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 655 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 CCCAATTTAGCGCACCATCCT 0.468000 6 360 0 0 0.003080 0 0 BTBD11 121551 broad.mit.edu 37 12 107914306 107914306 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:107914306C>A ENST00000280758.5 + 2 1706 c.1178C>A c.(1177-1179)cCa>cAa p.P393Q BTBD11_ENST00000490090.2_Missense_Mutation_p.P393Q|BTBD11_ENST00000420571.2_Missense_Mutation_p.P393Q NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 393 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 CACAGAGACCCACAGCGGTCA 0.537000 35 193 2.48696e-23 3.55105e-23 0.015359 1 0 POPDC2 64091 broad.mit.edu 37 3 119373360 119373360 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:119373360C>A ENST00000493094.1 - 2 1051 c.592G>T c.(592-594)Gtg>Ttg p.V198L POPDC2_ENST00000538678.1_Missense_Mutation_p.V198L|POPDC2_ENST00000468801.1_Missense_Mutation_p.V198L|POPDC2_ENST00000264231.3_Missense_Mutation_p.V198L|POPDC2_ENST00000474523.1_5'UTR Q9HBU9 POPD2_HUMAN popeye domain containing 2 198 integral to membrane breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 13 GBM - Glioblastoma multiforme(114;0.242) ACCTGGAACACCCCCTCCTCA 0.557000 21 183 6.44725e-10 8.35648e-10 0.014323 1 0 SLTM 79811 broad.mit.edu 37 15 59205864 59205864 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr15:59205864T>A ENST00000380516.2 - 4 434 c.347A>T c.(346-348)gAg>gTg p.E116V SLTM_ENST00000557950.1_5'UTR|SLTM_ENST00000536328.1_5'UTR NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 116 Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TCCATCTTGCTCATGTGCCTC 0.383000 5 181 0 0 0.003080 0 0 TBX3 6926 broad.mit.edu 37 12 115120698 115120698 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:115120698G>T ENST00000349155.2 - 1 1271 c.308C>A c.(307-309)cCc>cAc p.P103H TBX3_ENST00000257566.3_Missense_Mutation_p.P103H NM_005996.3 NP_005987.3 O15119 TBX3_HUMAN T-box 3 103 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) GTGCACCTTGGGGTCGTCCTC 0.622000 15 84 5.3912e-06 6.30301e-06 0.006122 1 0 PDZD2 23037 broad.mit.edu 37 5 32010436 32010436 + Splice_Site SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:32010436G>A ENST00000438447.1 + 6 1643 c.1254_splice c.e6-1 p.E419_splice PDZD2_ENST00000282493.3_Splice_Site_p.E419_splice O15018 PDZD2_HUMAN PDZ domain containing 2 419 PDZ 2. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GTCCCCATAGGAAAACTCCGC 0.498000 12 556 0 0 0.020292 0 0 OR8I2 120586 broad.mit.edu 37 11 55861056 55861056 + Silent SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:55861056C>A ENST00000302124.2 + 1 304 c.273C>A c.(271-273)tcC>tcA p.S91S OR8I2_ENST00000560768.1_Silent_p.S91S Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) ATCGGAGATCCATCTCCTTTG 0.388000 29 246 1.88708e-17 2.62564e-17 0.008361 1 0 UBC 7316 broad.mit.edu 37 12 125397084 125397084 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:125397084C>T ENST00000536769.1 - 1 2810 c.1234G>A c.(1234-1236)Gac>Aac p.D412N UBC_ENST00000339647.5_Missense_Mutation_p.D412N|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Missense_Mutation_p.D336N P0CG48 UBC_HUMAN ubiquitin C 412 Ubiquitin-like 6. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) CCTTCCTTGTCTTGGATCTTT 0.517000 9 187 0 0 0.013537 0 0 ZNF154 7710 broad.mit.edu 37 19 58213785 58213785 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:58213785C>T ENST00000512439.2 - 3 728 c.532G>A c.(532-534)Gac>Aac p.D178N ZNF154_ENST00000426889.1_Missense_Mutation_p.D178N|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron Q13106 ZN154_HUMAN zinc finger protein 154 178 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(3) 12 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CTCCAATGGTCATTGAGACTG 0.438000 33 380 0 0 0.012213 0 0 DMPK 1760 broad.mit.edu 37 19 46280928 46280928 + Silent SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:46280928G>A ENST00000600757.1 - 6 1596 c.909C>T c.(907-909)taC>taT p.Y303Y DMPK_ENST00000458663.2_Silent_p.Y293Y|DMPK_ENST00000447742.2_Silent_p.Y293Y|DMPK_ENST00000354227.5_Silent_p.Y293Y|DMPK_ENST00000343373.4_Silent_p.Y303Y|DMPK_ENST00000291270.4_Silent_p.Y293Y Q09013 DMPK_HUMAN dystrophia myotonica-protein kinase 303 Protein kinase. regulation of heart contraction ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24) TGCTCACCTTGTAGTGGACGA 0.622000 9 48 0 0 0.024245 0 0 DDX18 8886 broad.mit.edu 37 2 118579437 118579437 + Splice_Site SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:118579437G>C ENST00000263239.2 + 6 879 c.e6-1 DDX18_ENST00000474694.1_Splice_Site NM_006773.3 NP_006764.3 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 ATCATTTTTAGGAACAGGAGT 0.418000 11 221 0 0 0.008291 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204412608 204412608 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:204412608C>A ENST00000367187.3 - 20 3541 c.2985G>T c.(2983-2985)tgG>tgT p.W995C PIK3C2B_ENST00000424712.2_Missense_Mutation_p.W967C NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 995 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) CATTGACAAGCCAGCACTGGC 0.587000 4 22 1.67942e-08 2.12303e-08 0.006122 1 0 ZNF594 84622 broad.mit.edu 37 17 5085319 5085319 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:5085319C>A ENST00000399604.4 - 1 2373 c.2233G>T c.(2233-2235)Gat>Tat p.D745Y ZNF594_ENST00000575779.1_Missense_Mutation_p.D745Y Q96JF6 ZN594_HUMAN zinc finger protein 594 745 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 AGCTCCTCATCCTTGCTGAAG 0.453000 28 331 7.38237e-10 9.5543e-10 0.006320 1 0 TTN 7273 broad.mit.edu 37 2 179637970 179637970 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:179637970G>C ENST00000589042.1 - 33 7945 c.7721C>G c.(7720-7722)cCc>cGc p.P2574R TTN_ENST00000360870.5_Missense_Mutation_p.P2574R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P2574R|TTN_ENST00000460472.2_Missense_Mutation_p.P2528R|TTN_ENST00000342175.6_Missense_Mutation_p.P2528R|TTN_ENST00000342992.6_Missense_Mutation_p.P2574R|TTN_ENST00000359218.5_Missense_Mutation_p.P2528R|TTN-AS1_ENST00000584485.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2308 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTAGAACTGGGCTTGATTTC 0.358000 6 106 0 0 0.021553 0 0 ALK 238 broad.mit.edu 37 2 29451871 29451871 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:29451871C>T ENST00000389048.3 - 16 3600 c.2694G>A c.(2692-2694)gaG>gaA p.E898E ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 898 Gly-rich. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.E898D(1) ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CGGTGGCACCCTCCTGCAAAG 0.617000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 11 70 0 0 0.010729 0 0 SEL1L2 80343 broad.mit.edu 37 20 13846071 13846071 + Silent SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr20:13846071A>T ENST00000284951.5 - 16 1568 c.1494T>A c.(1492-1494)tcT>tcA p.S498S SEL1L2_ENST00000486903.1_Intron|SEL1L2_ENST00000378072.5_Intron Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 498 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 ACTGAACAAGAGAAGAATCTA 0.398000 20 175 0 0 0.007413 0 0 MTMR12 54545 broad.mit.edu 37 5 32239198 32239198 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:32239198C>A ENST00000382142.3 - 13 1423 c.1253G>T c.(1252-1254)gGt>gTt p.G418V MTMR12_ENST00000280285.5_Missense_Mutation_p.G418V|MTMR12_ENST00000264934.5_Missense_Mutation_p.G418V NM_001040446.1 NP_001035536.1 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 418 Myotubularin phosphatase. cytoplasm phosphatase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 GCTCTGGAAACCAATTCTGGT 0.547000 17 83 1.67942e-08 2.12303e-08 0.006122 1 0 C2CD3 26005 broad.mit.edu 37 11 73850838 73850838 + Silent SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:73850838G>A ENST00000334126.7 - 4 745 c.519C>T c.(517-519)taC>taT p.Y173Y C2CD3_ENST00000539061.1_Silent_p.Y173Y|C2CD3_ENST00000313663.7_Silent_p.Y173Y Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 173 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) GGTAGCTGTCGTAAGTTTCTG 0.413000 8 159 0 0 0.003080 0 0 DOPEY2 9980 broad.mit.edu 37 21 37605353 37605353 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr21:37605353G>C ENST00000399151.3 + 15 2687 c.2602G>C c.(2602-2604)Gag>Cag p.E868Q NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 868 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 AGTCATTGCAGAGAAAACAGA 0.478000 7 39 0 0 0.001984 0 0 ZBTB38 253461 broad.mit.edu 37 3 141162113 141162113 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:141162113G>A ENST00000514251.1 + 4 1162 c.883G>A c.(883-885)Gaa>Aaa p.E295K ZBTB38_ENST00000321464.5_Missense_Mutation_p.E296K|ZBTB38_ENST00000441582.2_Missense_Mutation_p.E295K Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 295 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 41 GGTTAATCAAGAAAGAAGTCC 0.428000 16 307 0 0 0.021022 0 0 FAM50B 26240 broad.mit.edu 37 6 3850660 3850660 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:3850660G>T ENST00000380274.1 + 1 1041 c.615G>T c.(613-615)aaG>aaT p.K205N FAM50B_ENST00000380272.3_Missense_Mutation_p.K205N Q9Y247 FA50B_HUMAN family with sequence similarity 50, member B 205 nucleus cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3) 17 Ovarian(93;0.0925) all_hematologic(90;0.108) GGGTGCGCAAGGGCAACACGG 0.657000 8 42 2.17888e-05 2.49711e-05 0.006214 1 0 CPM 1368 broad.mit.edu 37 12 69265736 69265736 + Splice_Site SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:69265736T>A ENST00000551568.1 - 4 319 c.258_splice c.e4-1 p.T87_splice CPM_ENST00000338356.3_Splice_Site_p.T87_splice|CPM_ENST00000546373.1_Splice_Site_p.T87_splice NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 87 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) CGCCCAACAGTCTATATGTGT 0.443000 40 94 0 0 0.014410 0 0 ZFP36L1 677 broad.mit.edu 37 14 69256565 69256565 + Silent SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr14:69256565G>T ENST00000439696.2 - 2 1003 c.702C>A c.(700-702)gcC>gcA p.A234A ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Silent_p.A234A NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 234 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GGAGGTCATCGGCGCTCAGAA 0.642000 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 241 0.00307968 0.00328323 0.003080 1 0 SKAP1 8631 broad.mit.edu 37 17 46259763 46259763 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:46259763C>A ENST00000336915.6 - 8 693 c.624G>T c.(622-624)ttG>ttT p.L208F SKAP1_ENST00000584924.1_Missense_Mutation_p.L208F NM_001075099.1|NM_003726.3 NP_001068567.1|NP_003717.3 Q86WV1 SKAP1_HUMAN src kinase associated phosphoprotein 1 208 PH. positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway cytoplasm|nucleus|plasma membrane antigen binding|protein kinase binding|SH2 domain binding large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1) 18 TACCCTTTAACAAGAAACTTA 0.318000 52 400 3.07002e-29 4.47155e-29 0.014410 1 0 IGLV2-23 28813 broad.mit.edu 37 22 23040756 23040756 + RNA SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr22:23040756G>A ENST00000390306.2 + 0 366 CCAAACTCATGATTTATGAGG 0.547000 7 228 0 0 0.004482 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57068072 57068072 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:57068072G>A ENST00000532437.1 - 10 5443 c.5132C>T c.(5131-5133)tCa>tTa p.S1711L TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S1711L Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1711 Arg/Glu/Lys-rich (charged). nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) CGATCCTTCTGACCTAGGAGG 0.512000 8 306 0 0 0.004482 0 0 FGD6 55785 broad.mit.edu 37 12 95483427 95483427 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:95483427G>C ENST00000343958.4 - 18 4119 c.3896C>G c.(3895-3897)tCt>tGt p.S1299C FGD6_ENST00000546711.1_Missense_Mutation_p.S1299C NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 1299 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 ACTTGAAGGAGATTTGTGATT 0.408000 14 189 0 0 0.016723 0 0 LMAN1 3998 broad.mit.edu 37 18 57016400 57016400 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr18:57016400C>T ENST00000251047.5 - 6 1425 c.708G>A c.(706-708)atG>atA p.M236I LMAN1_ENST00000587940.1_5'UTR NM_005570.3 NP_005561.1 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 236 L-type lectin-like. blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) CAGGGATAATCATATTTTCCA 0.358000 4 103 0 0 0.014758 0 0 LCE3A 353142 broad.mit.edu 37 1 152595538 152595538 + Silent SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:152595538G>T ENST00000335674.1 - 1 41 c.42C>A c.(40-42)ccC>ccA p.P14P NM_178431.1 NP_848518.1 Q5TA76 LCE3A_HUMAN late cornified envelope 3A 14 keratinization endometrium(1)|lung(5) 6 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CAGGGCACTTGGGCGGAGGCT 0.607000 8 178 2.80697e-09 3.6007e-09 0.010729 1 0 VNN1 8876 broad.mit.edu 37 6 133032957 133032957 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:133032957G>A ENST00000367928.4 - 2 245 c.232C>T c.(232-234)Cca>Tca p.P78S NM_004666.2 NP_004657.2 O95497 VNN1_HUMAN vanin 1 78 CN hydrolase. acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress anchored to membrane|integral to membrane|plasma membrane GPI anchor binding|pantetheine hydrolase activity NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189) GCATCTTCTGGAGTCACAATA 0.458000 21 131 0 0 0.012213 0 0 XDH 7498 broad.mit.edu 37 2 31570420 31570420 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:31570420C>T ENST00000379416.3 - 29 3292 c.3244G>A c.(3244-3246)Gtc>Atc p.V1082I NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 1082 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TCAGCGCTGACAGAGGCAGCC 0.582000 10 42 0 0 0.004990 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140869472 140869472 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:140869472G>A ENST00000252087.1 + 1 665 c.665G>A c.(664-666)cGc>cAc p.R222H PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron NM_018929.2|NM_032403.2|NM_032407.1 NP_061752.1|NP_115779.1|NP_115783.1 Q9Y5F6 PCDGM_HUMAN 222 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R222H(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCCCAGCCCGCTCAGGGACC 0.552000 4 176 0 0 0.014758 0 0 EPHA8 2046 broad.mit.edu 37 1 22895844 22895844 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:22895844G>T ENST00000166244.3 + 2 229 c.157G>T c.(157-159)Ggg>Tgg p.G53W EPHA8_ENST00000538803.1_Missense_Mutation_p.G53W|EPHA8_ENST00000374644.4_Missense_Mutation_p.G53W NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 53 integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TCCGGCTCATGGGGTGAGTGA 0.567000 8 81 5.18039e-06 6.06468e-06 0.003080 1 0 STAT4 6775 broad.mit.edu 37 2 191899317 191899317 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:191899317G>A ENST00000392320.2 - 18 1891 c.1577C>T c.(1576-1578)tCt>tTt p.S526F STAT4_ENST00000358470.4_Missense_Mutation_p.S526F NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 526 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) ACTGTAGCTAGATTGGACTGA 0.373000 7 216 0 0 0.004482 0 0 ZCWPW1 55063 broad.mit.edu 37 7 100006280 100006280 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:100006280C>T ENST00000398027.2 - 10 1118 c.871G>A c.(871-873)Gtg>Atg p.V291M ZCWPW1_ENST00000324725.6_Missense_Mutation_p.V171M|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.V171M|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.V292M NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 291 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TTATACTGCACATCTGCTGAA 0.478000 24 96 0 0 0.018920 0 0 SLITRK5 26050 broad.mit.edu 37 13 88329956 88329956 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr13:88329956C>A ENST00000325089.6 + 2 2532 c.2313C>A c.(2311-2313)aaC>aaA p.N771K SLITRK5_ENST00000400028.3_Missense_Mutation_p.N530K NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 771 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GAGAGGGCAACTCCGTAGAGG 0.622000 23 106 7.26314e-15 9.93123e-15 0.007291 1 0 DMTN 2039 broad.mit.edu 37 8 21927731 21927731 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr8:21927731G>A ENST00000358242.3 + 8 983 c.490G>A c.(490-492)Gag>Aag p.E164K DMTN_ENST00000265800.5_Missense_Mutation_p.E164K|DMTN_ENST00000443491.2_Missense_Mutation_p.E139K|DMTN_ENST00000523782.2_Missense_Mutation_p.E139K|DMTN_ENST00000523266.1_Missense_Mutation_p.E164K|DMTN_ENST00000432128.1_Missense_Mutation_p.E164K|DMTN_ENST00000415253.1_Missense_Mutation_p.E164K|DMTN_ENST00000517600.1_Missense_Mutation_p.E124K|DMTN_ENST00000381470.3_Missense_Mutation_p.E164K|DMTN_ENST00000519907.1_Missense_Mutation_p.E164K dematin actin binding protein GCACCTCATCGAGGATCTCAT 0.612000 6 170 0 0 0.001984 0 0 PPP2CA 5515 broad.mit.edu 37 5 133536187 133536187 + Splice_Site SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:133536187C>A ENST00000481195.1 - 5 857 c.576_splice c.e5-1 p.G193_splice NM_002715.2 NP_002706.1 protein phosphatase 2, catalytic subunit, alpha isozyme endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CACATTGGACCCTAAAAAATA 0.413000 5 86 0.014758 0.0153392 0.014758 1 0 CXorf22 170063 broad.mit.edu 37 X 35966554 35966554 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:35966554T>A ENST00000297866.5 + 4 707 c.641T>A c.(640-642)gTa>gAa p.V214E NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 214 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 CCAAGAATTGTAGATGAAGAG 0.378000 16 204 0 0 0.010504 0 0 SPTBN1 6711 broad.mit.edu 37 2 54871577 54871577 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:54871577C>T ENST00000333896.5 + 19 4469 c.4084C>T c.(4084-4086)Cgg>Tgg p.R1362W SPTBN1_ENST00000356805.4_Missense_Mutation_p.R1375W NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 1375 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) AAAGGCCCAGCGGCTCTTTGA 0.488000 5 114 0 0 0.021553 0 0 PLOD2 5352 broad.mit.edu 37 3 145809621 145809621 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:145809621C>A ENST00000282903.5 - 8 1022 c.845G>T c.(844-846)tGt>tTt p.C282F PLOD2_ENST00000494950.1_Missense_Mutation_p.C227F|PLOD2_ENST00000360060.3_Missense_Mutation_p.C282F|RP11-274H2.2_ENST00000480247.1_RNA NM_182943.2 NP_891988.1 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 282 protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) ATCGAATTCACAAAGAGTGCA 0.338000 6 62 5.18039e-06 6.06468e-06 0.003080 1 0 TMEM132B 114795 broad.mit.edu 37 12 126128651 126128651 + Silent SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:126128651G>T ENST00000299308.3 + 6 1460 c.1452G>T c.(1450-1452)gtG>gtT p.V484V TMEM132B_ENST00000535886.1_5'UTR NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 484 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CCATTTTTGTGAATGGGAAGG 0.468000 10 61 3.07112e-06 3.63443e-06 0.010729 1 0 SLC5A3 6526 broad.mit.edu 37 21 35468163 35468163 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr21:35468163C>T ENST00000381151.3 + 2 1178 c.666C>T c.(664-666)ccC>ccT p.P222P MRPS6_ENST00000399312.2_Intron NM_006933.4 NP_008864.3 P53794 SC5A3_HUMAN solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 222 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 TGGCCTCACCCGATGTCACTT 0.428000 4 167 0 0 0.009096 0 0 HENMT1 113802 broad.mit.edu 37 1 109191326 109191326 + Silent SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:109191326C>A ENST00000370032.5 - 8 1464 c.1044G>T c.(1042-1044)gcG>gcT p.A348A HENMT1_ENST00000370031.1_Silent_p.A379A|HENMT1_ENST00000402983.1_Silent_p.A348A NM_144584.2 NP_653185.2 Q5T8I9 HENMT_HUMAN HEN1 methyltransferase homolog 1 (Arabidopsis) 348 gene silencing by RNA|piRNA metabolic process P granule metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 16 ACTTGGGATACGCAAGGAGTC 0.473000 5 90 5.9392e-07 7.21484e-07 0.021553 1 0 CCT4 10575 broad.mit.edu 37 2 62107456 62107456 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:62107456G>C ENST00000394440.3 - 4 640 c.344C>G c.(343-345)tCc>tGc p.S115C AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544079.1_Missense_Mutation_p.S85C|CCT4_ENST00000538252.1_Missense_Mutation_p.S59C|CCT4_ENST00000544185.1_Intron NM_006430.3 NP_006421.2 P50991 TCPD_HUMAN chaperonin containing TCP1, subunit 4 (delta) 115 'de novo' posttranslational protein folding melanosome|microtubule organizing center|nucleus ATP binding|unfolded protein binding breast(1)|large_intestine(2)|lung(6)|ovary(2) 11 Lung NSC(7;0.035)|all_lung(7;0.0691) LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221) ATCTAAGAGGGAGCCAGCAAT 0.403000 17 135 0 0 0.007413 0 0 CPSF3 51692 broad.mit.edu 37 2 9574073 9574073 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:9574073C>G ENST00000460593.1 + 6 1620 c.482C>G c.(481-483)cCt>cGt p.P161R CPSF3_ENST00000238112.3_Missense_Mutation_p.P198R Q9UKF6 CPSF3_HUMAN cleavage and polyadenylation specific factor 3, 73kDa 198 histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex 5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308) all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644) AATATTAAGCCTGATATTCTT 0.284000 5 76 0 0 0.014758 0 0 ZNF528 84436 broad.mit.edu 37 19 52919516 52919516 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:52919516G>T ENST00000360465.3 + 7 1837 c.1411G>T c.(1411-1413)Ggc>Tgc p.G471C ZNF528_ENST00000391788.2_3'UTR NM_032423.2 NP_115799.2 Q3MIS6 ZN528_HUMAN zinc finger protein 528 471 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 39 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) TAAAGAATGTGGCAAAGTCTT 0.393000 22 82 2.89027e-11 3.85517e-11 0.014323 1 0 SLMAP 7871 broad.mit.edu 37 3 57908711 57908711 + Nonsense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:57908711T>A ENST00000295951.3 + 21 3521 c.2304T>A c.(2302-2304)tgT>tgA p.C768* SLMAP_ENST00000494088.1_Nonsense_Mutation_p.C278*|SLMAP_ENST00000449503.2_Nonsense_Mutation_p.C747*|SLMAP_ENST00000428312.1_Nonsense_Mutation_p.C785*|SLMAP_ENST00000442599.2_Nonsense_Mutation_p.C253*|SLMAP_ENST00000295952.3_Nonsense_Mutation_p.C768*|SLMAP_ENST00000495364.1_Nonsense_Mutation_p.C319* Q14BN4 SLMAP_HUMAN sarcolemma associated protein 785 muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2) 18 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) TCAAACAGTGTAAAAACAACC 0.383000 23 119 0 0 0.016522 0 0 TTC16 158248 broad.mit.edu 37 9 130482646 130482646 + Missense_Mutation SNP G G T rs137884355 TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr9:130482646G>T ENST00000373289.3 + 6 709 c.629G>T c.(628-630)cGg>cTg p.R210L PTRH1_ENST00000419060.1_Intron|PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000393748.4_Missense_Mutation_p.R34L|TTC16_ENST00000489226.1_3'UTR NM_144965.1 NP_659402.1 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 210 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 TACATCTTCCGGGCCAGACTC 0.607000 4 12 0.00909568 0.00951061 0.009096 1 0 TSPO2 222642 broad.mit.edu 37 6 41011851 41011851 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:41011851C>A ENST00000373161.1 + 4 733 c.488C>A c.(487-489)cCt>cAt p.P163H TSPO2_ENST00000373158.2_3'UTR|TSPO2_ENST00000470917.1_Missense_Mutation_p.P163H NM_001010873.2 NP_001010873.1 Q5TGU0 TSPO2_HUMAN translocator protein 2 163 transport endoplasmic reticulum membrane|integral to membrane cholesterol binding|receptor activity breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 GTGCACCAGCCTCAGCCCACG 0.632000 11 71 1.05317e-09 1.35497e-09 0.020292 1 0 MUC16 94025 broad.mit.edu 37 19 9011388 9011388 + Nonsense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:9011388G>A ENST00000397910.4 - 36 39048 c.38845C>T c.(38845-38847)Cag>Tag p.Q12949* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12951 SEA 6. 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 TGGGTCAGCTGGCTCAGCTCC 0.552000 158 801 0 0 0.014410 0 0 CACNG6 59285 broad.mit.edu 37 19 54515441 54515441 + Nonstop_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:54515441T>A ENST00000252729.2 + 4 1371 c.781T>A c.(781-783)Tag>Aag p.*261K CACNG6_ENST00000352529.1_Nonstop_Mutation_p.*190K|CACNG6_ENST00000346968.2_Nonstop_Mutation_p.*215K NM_145814.1 NP_665813.1 Q9BXT2 CCG6_HUMAN calcium channel, voltage-dependent, gamma subunit 6 0 voltage-gated calcium channel complex voltage-gated calcium channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) CCGGGCCACCTAGAGCCACGC 0.607000 5 201 0 0 0.001984 0 0 ZNF513 130557 broad.mit.edu 37 2 27601505 27601505 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:27601505G>A ENST00000323703.6 - 3 826 c.628C>T c.(628-630)Cac>Tac p.H210Y ZNF513_ENST00000407879.1_Missense_Mutation_p.H148Y|ZNF513_ENST00000491924.1_Intron NM_144631.5 NP_653232.3 Q8N8E2 ZN513_HUMAN zinc finger protein 513 210 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 17 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAGGGGCAGTGGGGACAGCGG 0.692000 5 28 0 0 0.014758 0 0 OR5AP2 338675 broad.mit.edu 37 11 56409618 56409618 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:56409618A>T ENST00000544374.1 - 1 329 c.301T>A c.(301-303)Ttt>Att p.F101I OR5AP2_ENST00000302981.1_Missense_Mutation_p.F100I Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, member 2 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 29 CATCCATGAAAAGAAATGGCC 0.483000 22 90 0 0 0.018920 0 0 UGT2B4 7363 broad.mit.edu 37 4 70360959 70360959 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:70360959G>C ENST00000305107.6 - 1 667 c.621C>G c.(619-621)ttC>ttG p.F207L UGT2B4_ENST00000512583.1_Missense_Mutation_p.F207L|UGT2B4_ENST00000381096.3_Missense_Mutation_p.F71L|UGT2B4_ENST00000506580.1_Intron NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 207 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 CCCTCTCTATGAAAGTCATTT 0.383000 22 76 0 0 0.014323 0 0 IFT140 9742 broad.mit.edu 37 16 1639764 1639764 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr16:1639764C>T ENST00000426508.2 - 7 1015 c.652G>A c.(652-654)Gat>Aat p.D218N IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) 218 p.D218Y(1) breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) CCCTTCTCATCCACATAGTGC 0.537000 11 95 0 0 0.016723 0 0 PTPRB 5787 broad.mit.edu 37 12 71016238 71016238 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:71016238T>A ENST00000334414.6 - 3 684 c.640A>T c.(640-642)Atg>Ttg p.M214L PTPRB_ENST00000551525.1_Missense_Mutation_p.M213L|PTPRB_ENST00000550358.1_Missense_Mutation_p.M214L|PTPRB_ENST00000538174.2_5'UTR NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 0 Fibronectin type-III 3. 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) ATTCCAGTCATGTGCAGATTG 0.493000 30 115 0 0 0.012213 0 0 LMX1A 4009 broad.mit.edu 37 1 165218684 165218684 + Nonsense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:165218684C>A ENST00000342310.3 - 4 839 c.457G>T c.(457-459)Gag>Tag p.E153* LMX1A_ENST00000294816.2_Nonsense_Mutation_p.E153*|LMX1A_ENST00000367893.4_Nonsense_Mutation_p.E153* NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 153 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CTGAGCAGCTCCCGCTCCTTC 0.617000 8 133 7.48243e-07 9.02659e-07 0.006214 1 0 OR52B4 143496 broad.mit.edu 37 11 4389218 4389218 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:4389218A>T ENST00000408920.2 - 1 398 c.308T>A c.(307-309)cTc>cAc p.L103H NM_001005161.3 NP_001005161.2 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, member 4 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) GATGAAGAAGAGCTGAGTGAT 0.522000 10 157 0 0 0.006214 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106647225 106647225 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:106647225C>A ENST00000526355.1 - 6 2244 c.1776G>T c.(1774-1776)atG>atT p.M592I GUCY1A2_ENST00000282249.2_Missense_Mutation_p.M592I|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.M613I NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 592 Guanylate cyclase. intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) TCTTCAAGGCCATCAGAGCAA 0.483000 10 31 7.48243e-07 9.02659e-07 0.006214 1 0 OR5AS1 219447 broad.mit.edu 37 11 55798415 55798415 + Missense_Mutation SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:55798415T>C ENST00000313555.1 + 1 521 c.521T>C c.(520-522)gTc>gCc p.V174A NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) TCCAATATCGTCAATCATTTT 0.438000 15 545 0 0 0.020292 0 0 SLITRK3 22865 broad.mit.edu 37 3 164907998 164907998 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:164907998C>T ENST00000475390.1 - 2 1064 c.621G>A c.(619-621)agG>agA p.R207R SLITRK3_ENST00000241274.3_Silent_p.R207R O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 207 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 GAACCTTTAACCTATTTCCAC 0.403000 HNSCC(40;0.11) 10 211 0 0 0.006214 0 0 C6orf222 389384 broad.mit.edu 37 6 36297905 36297905 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:36297905G>A ENST00000437635.2 - 2 740 c.563C>T c.(562-564)gCt>gTt p.A188V NM_001010903.4 NP_001010903.3 P0C671 CF222_HUMAN chromosome 6 open reading frame 222 188 breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 CAAGGCAGCAGCTGCCTTGGA 0.632000 9 146 0 0 0.006214 0 0 PIK3R5 23533 broad.mit.edu 37 17 8784021 8784021 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:8784021C>T ENST00000447110.1 - 19 2702 c.2578G>A c.(2578-2580)Gcc>Acc p.A860T PIK3R5_ENST00000584803.1_Missense_Mutation_p.A859T|PIK3R5_ENST00000581552.1_Missense_Mutation_p.A860T NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 860 platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 TCAGGTGCGGCCTGGGCCGGC 0.637000 5 120 0 0 0.006214 0 0 ALX1 8092 broad.mit.edu 37 12 85694976 85694976 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:85694976T>A ENST00000316824.3 + 4 859 c.704T>A c.(703-705)gTg>gAg p.V235E NM_006982.2 NP_008913.2 Q15699 ALX1_HUMAN ALX homeobox 1 235 brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1) 26 GBM - Glioblastoma multiforme(134;0.134) GGTGGTTCTGTGGTTACTTCA 0.403000 9 247 0 0 0.008291 0 0 DNAH9 1770 broad.mit.edu 37 17 11631139 11631139 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:11631139G>T ENST00000262442.3 + 28 5782 c.5714G>T c.(5713-5715)tGt>tTt p.C1905F DNAH9_ENST00000454412.2_Missense_Mutation_p.C1905F NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1905 AAA 1 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTGCAGTCTTGTGGCAACATC 0.453000 4 57 0.00116845 0.00125644 0.021553 1 0 DNM1P46 196968 broad.mit.edu 37 15 100332491 100332491 + RNA SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr15:100332491A>T ENST00000341853.1 - 0 1700 NR_003260.1 CTGGAAAGACAGAAGTCATCA 0.592000 7 50 0 0 0.001984 0 0 NPAP1 23742 broad.mit.edu 37 15 24922552 24922552 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr15:24922552G>C ENST00000329468.2 + 1 2012 c.1538G>C c.(1537-1539)aGg>aCg p.R513T NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CCCGTCACAAGGGAGTCCCCA 0.542000 91 397 0 0 0.014410 0 0 TFIP11 24144 broad.mit.edu 37 22 26897927 26897927 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr22:26897927T>A ENST00000407690.1 - 8 1023 c.740A>T c.(739-741)aAg>aTg p.K247M TFIP11_ENST00000405938.1_Missense_Mutation_p.K247M|TFIP11_ENST00000407148.1_Missense_Mutation_p.K247M|TFIP11_ENST00000496523.1_5'UTR|TFIP11_ENST00000407431.1_Missense_Mutation_p.K247M NM_012143.2 NP_036275.1 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 247 biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 GCCCTTGGCCTTCAACTCTTC 0.522000 4 144 0 0 0.021553 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57068046 57068046 + Nonsense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:57068046G>A ENST00000532437.1 - 10 5469 c.5158C>T c.(5158-5160)Caa>Taa p.Q1720* TNKS1BP1_ENST00000358252.3_Nonsense_Mutation_p.Q1720* Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1720 Arg/Glu/Lys-rich (charged). nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) TTCAGGGCTTGAAGCCAGTTG 0.537000 8 309 0 0 0.003080 0 0 TBX20 57057 broad.mit.edu 37 7 35280503 35280503 + Nonsense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:35280503G>T ENST00000408931.3 - 5 1327 c.801C>A c.(799-801)taC>taA p.Y267* NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 267 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 GTTGATTCTGGTAGGCAGTGA 0.393000 12 100 1.05317e-09 1.35497e-09 0.020292 1 0 PCDH17 27253 broad.mit.edu 37 13 58299211 58299211 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr13:58299211C>G ENST00000377918.3 + 4 3289 c.3263C>G c.(3262-3264)cCt>cGt p.P1088R NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 1088 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CCAAGAGACCCTCCCTTCATG 0.527000 24 175 0 0 0.007291 0 0 ADCY8 114 broad.mit.edu 37 8 131812695 131812695 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr8:131812695C>G ENST00000286355.5 - 15 5129 c.3037G>C c.(3037-3039)Gag>Cag p.E1013Q ADCY8_ENST00000377928.3_Missense_Mutation_p.E882Q NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 1013 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GCAATGATCTCATTGAGCAAG 0.438000 HNSCC(32;0.087) 76 775 0 0 0.014410 0 0 TMCO6 55374 broad.mit.edu 37 5 140023223 140023223 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:140023223G>C ENST00000394671.3 + 8 982 c.881G>C c.(880-882)gGg>gCg p.G294A TMCO6_ENST00000537378.1_Missense_Mutation_p.G54A|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Missense_Mutation_p.G300A NM_018502.3 NP_060972.3 Q96DC7 TMCO6_HUMAN transmembrane and coiled-coil domains 6 294 protein import into nucleus cytoplasm|nuclear pore binding|protein transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACTTGGCTGGGGCTGTCCAG 0.542000 19 304 0 0 0.016522 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121652008 121652008 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:121652008C>A ENST00000393386.2 + 12 3319 c.2908C>A c.(2908-2910)Cca>Aca p.P970T PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 970 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 TAGCCATATACCAATACCTAA 0.458000 31 157 3.54561e-26 5.15563e-26 0.009718 1 0 CDK5RAP3 80279 broad.mit.edu 37 17 46054172 46054172 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:46054172C>T ENST00000536708.2 + 9 1077 c.968C>T c.(967-969)cCg>cTg p.P323L CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.P298L NM_001278197.1 NP_001265126.1 Q96JB5 CK5P3_HUMAN CDK5 regulatory subunit associated protein 3 298 brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation neuronal Cdc2-like kinase binding NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 18 GGCATCTTCCCGGAATCAGAT 0.517000 6 76 0 0 0.021553 0 0 INSIG1 3638 broad.mit.edu 37 7 155093401 155093401 + Splice_Site SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:155093401G>A ENST00000340368.4 + 3 748 c.e3+1 INSIG1_ENST00000344756.4_Intron|INSIG1_ENST00000342407.5_Intron NM_005542.4 NP_005533.2 O15503 INSI1_HUMAN insulin induced gene 1 cell proliferation|ER-nuclear sterol response pathway endoplasmic reticulum membrane|integral to membrane protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2) 19 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGCCAGTGCTGTATCCTTAAT 0.403000 5 98 0 0 0.014758 0 0 SLC9A6 10479 broad.mit.edu 37 X 135095589 135095589 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:135095589C>A ENST00000370695.4 + 9 1264 c.1229C>A c.(1228-1230)aCt>aAt p.T410N SLC9A6_ENST00000370698.3_Missense_Mutation_p.T378N|SLC9A6_ENST00000370701.1_Missense_Mutation_p.T358N NM_001042537.1 NP_001036002.1 Q92581 SL9A6_HUMAN solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 378 regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) CAGCATAGAACTAAACAGGTA 0.318000 7 201 1.12685e-05 1.30517e-05 0.004482 1 0 VWC2L 402117 broad.mit.edu 37 2 215440493 215440493 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:215440493G>C ENST00000312504.5 + 4 1420 c.618G>C c.(616-618)tgG>tgC p.W206C AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA|VWC2L_ENST00000427124.1_3'UTR NM_001080500.2 NP_001073969.1 B2RUY7 VWC2L_HUMAN von Willebrand factor C domain containing protein 2-like 206 extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1) 16 GGGACTGGTGGAAGCCTGCTC 0.478000 11 466 0 0 0.013537 0 0 BCCIP 56647 broad.mit.edu 37 10 127519198 127519198 + Missense_Mutation SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:127519198T>C ENST00000299130.3 + 4 401 c.389T>C c.(388-390)cTt>cCt p.L130P BCCIP_ENST00000278100.6_Missense_Mutation_p.L130P|BCCIP_ENST00000478798.1_3'UTR|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000368759.5_Missense_Mutation_p.L130P NM_078469.2 NP_510869.1 Q9P287 BCCIP_HUMAN BRCA2 and CDKN1A interacting protein 130 Interaction with BRCA2. cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity nuclear cyclin-dependent protein kinase holoenzyme complex kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1) 8 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) TTCATAAGCCTTTTAAATTTA 0.308000 4 227 0 0 0.021553 0 0 PKD1L1 168507 broad.mit.edu 37 7 47870944 47870944 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:47870944C>T ENST00000289672.2 - 42 6394 c.6344G>A c.(6343-6345)aGc>aAc p.S2115N NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2115 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CAAACCACTGCTGGGTGCTGC 0.577000 7 93 0 0 0.004482 0 0 MC5R 4161 broad.mit.edu 37 18 13826533 13826533 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr18:13826533C>T ENST00000324750.3 + 1 991 c.769C>T c.(769-771)Cat>Tat p.H257Y NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 257 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 GTTCTTCCTTCATCTCACTTT 0.547000 12 45 0 0 0.010729 0 0 ZMYM6 9204 broad.mit.edu 37 1 35485057 35485057 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:35485057T>A ENST00000357182.4 - 4 552 c.325A>T c.(325-327)Aca>Tca p.T109S ZMYM6_ENST00000373333.1_Missense_Mutation_p.T109S|ZMYM6_ENST00000493328.1_Intron|ZMYM6_ENST00000487874.1_Missense_Mutation_p.T109S|ZMYM6_ENST00000373340.2_Missense_Mutation_p.T109S|ZMYM6_ENST00000317538.5_Missense_Mutation_p.T109S NM_007167.3 NP_009098.3 O95789 ZMYM6_HUMAN zinc finger, MYM-type 6 109 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 44 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) GTAGATCCTGTCTTATGATAT 0.458000 11 207 0 0 0.016723 0 0 GABRB2 2561 broad.mit.edu 37 5 160886748 160886748 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:160886748G>T ENST00000274547.2 - 5 557 c.340C>A c.(340-342)Cag>Aag p.Q114K GABRB2_ENST00000517901.1_Missense_Mutation_p.Q51K|GABRB2_ENST00000520240.1_Missense_Mutation_p.Q114K|GABRB2_ENST00000353437.6_Missense_Mutation_p.Q114K|GABRB2_ENST00000393959.1_Missense_Mutation_p.Q114K|GABRB2_ENST00000517547.1_Intron NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 114 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ACCCAGAGCTGGTCTGCCACT 0.448000 17 84 2.48551e-13 3.34602e-13 0.004990 1 0 GSTA2 2939 broad.mit.edu 37 6 52617777 52617777 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:52617777C>T ENST00000493422.1 - 5 444 c.289G>A c.(289-291)Gaa>Aaa p.E97K NM_000846.4 NP_000837.3 P09210 GSTA2_HUMAN glutathione S-transferase alpha 2 97 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(77;0.118) Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163) GCTATACCTTCTATATACATA 0.348000 65 420 0 0 0.014410 0 0 DISC1 27185 broad.mit.edu 37 1 231829654 231829654 + Silent SNP A A G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:231829654A>G ENST00000439617.2 + 2 203 c.150A>G c.(148-150)acA>acG p.T50T DISC1_ENST00000535983.1_Silent_p.T50T|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000317586.4_Silent_p.T50T|DISC1_ENST00000537876.1_Silent_p.T50T|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000539444.1_Silent_p.T50T|DISC1_ENST00000366636.4_Silent_p.T50T|DISC1_ENST00000602281.1_Silent_p.T50T|DISC1_ENST00000366633.3_Silent_p.T50T|DISC1_ENST00000602873.1_Intron NM_001164537.1|NM_001164540.1|NM_018662.2 NP_001158009.1|NP_001158012.1|NP_061132.2 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 50 Interaction with MAP1A. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) GAAGCTCGACAGGGCCTGGGA 0.637000 6 68 0 0 0.003080 0 0 CDK17 5128 broad.mit.edu 37 12 96704920 96704920 + Silent SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:96704920G>T ENST00000261211.3 - 5 1056 c.453C>A c.(451-453)atC>atA p.I151I CDK17_ENST00000542666.1_Silent_p.I98I|CDK17_ENST00000543119.2_Silent_p.I151I NM_001170464.2|NM_002595.4 NP_001163935.1|NP_002586.2 Q00537 CDK17_HUMAN cyclin-dependent kinase 17 151 ATP binding|cyclin-dependent protein kinase activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1) 37 CAGGTATTCTGATGTCTGCAG 0.368000 34 101 6.84511e-11 9.04718e-11 0.015359 1 0 OBSCN 84033 broad.mit.edu 37 1 228437916 228437916 + Silent SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:228437916G>C ENST00000570156.2 + 15 4634 c.4560G>C c.(4558-4560)cgG>cgC p.R1520R OBSCN_ENST00000284548.11_Silent_p.R1428R|OBSCN_ENST00000422127.1_Silent_p.R1428R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 498 Ig-like 15. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGGGCCAGCGGCTCTCCTTCA 0.637000 12 68 0 0 0.016723 0 0 TP53 7157 broad.mit.edu 37 17 7577118 7577118 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:7577118C>A ENST00000420246.2 - 8 952 c.820G>T c.(820-822)Gtt>Ttt p.V274F TP53_ENST00000359597.4_Missense_Mutation_p.V274F|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.V274F|TP53_ENST00000455263.2_Missense_Mutation_p.V274F|TP53_ENST00000269305.4_Missense_Mutation_p.V274F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 274 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V274F(21)|p.V274L(11)|p.0?(8)|p.V274I(4)|p.?(2)|p.R273_C275delRVC(1)|p.V274fs*71(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V274_P278del(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAGGCACAAACACGCACCTCA 0.552000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 12 65 3.07112e-06 3.63443e-06 0.010729 1 0 TRPV5 56302 broad.mit.edu 37 7 142627277 142627277 + Splice_Site SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:142627277T>A ENST00000265310.1 - 3 575 c.e3-2 TRPV5_ENST00000442623.1_Splice_Site NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) CCAGGGCTCCTGGATTGGAGT 0.567000 29 87 0 0 0.010818 0 0 CMYA5 202333 broad.mit.edu 37 5 79026737 79026737 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:79026737C>G ENST00000446378.2 + 2 2180 c.2149C>G c.(2149-2151)Cgt>Ggt p.R717G NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 717 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AACAATTGACCGTAAGTCCCC 0.453000 19 179 0 0 0.007413 0 0 LRRC66 339977 broad.mit.edu 37 4 52863952 52863952 + Nonsense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:52863952C>T ENST00000343457.3 - 3 824 c.818G>A c.(817-819)tGg>tAg p.W273* NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 273 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 CTTTTTCCTCCAGGATTCAGA 0.368000 33 380 0 0 0.015359 0 0 CRB1 23418 broad.mit.edu 37 1 197390148 197390148 + Translation_Start_Site SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:197390148A>T ENST00000367397.1 + 0 191 CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000544212.1_De_novo_Start_OutOfFrame|CRB1_ENST00000367399.2_Missense_Mutation_p.D285V|CRB1_ENST00000535699.1_Missense_Mutation_p.D328V|CRB1_ENST00000543483.1_Missense_Mutation_p.D96V|CRB1_ENST00000367400.3_Missense_Mutation_p.D397V|CRB1_ENST00000538660.1_Missense_Mutation_p.D397V P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TGCGAAGAAGACGTCAATGAA 0.333000 25 291 0 0 0.024334 0 0 RSAD2 91543 broad.mit.edu 37 2 7018038 7018038 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:7018038G>A ENST00000382040.3 + 1 243 c.107G>A c.(106-108)aGg>aAg p.R36K NM_080657.4 NP_542388.2 Q8WXG1 RSAD2_HUMAN radical S-adenosyl methionine domain containing 2 36 defense response to virus endoplasmic reticulum membrane|Golgi apparatus catalytic activity|iron-sulfur cluster binding|metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1) 20 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) OV - Ovarian serous cystadenocarcinoma(76;0.191) TGCTGGCTGAGGGCAACCTTC 0.582000 5 46 0 0 0.003080 0 0 FAM26F 441168 broad.mit.edu 37 6 116784654 116784654 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:116784654A>T ENST00000368605.1 + 3 829 c.734A>T c.(733-735)cAt>cTt p.H245L FAM26F_ENST00000368606.3_Missense_Mutation_p.H73L|RP1-93H18.6_ENST00000476099.1_RNA NM_001010919.1 NP_001010919.1 Q5R3K3 FA26F_HUMAN family with sequence similarity 26, member F 245 integral to membrane large_intestine(2)|lung(1) 3 GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231) GAGGGCTCGCATCCAAAAGAA 0.398000 7 280 0 0 0.006214 0 0 MARS2 92935 broad.mit.edu 37 2 198571256 198571256 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:198571256G>C ENST00000282276.6 + 1 1170 c.1127G>C c.(1126-1128)cGg>cCg p.R376P AC011997.1_ENST00000409845.1_Intron NM_138395.3 NP_612404.1 Q96GW9 SYMM_HUMAN methionyl-tRNA synthetase 2, mitochondrial 376 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 22 L-Methionine(DB00134) TTTCTCCTTCGGCAGGGCGTC 0.537000 8 254 0 0 0.003080 0 0 EIF3E 3646 broad.mit.edu 37 8 109226851 109226851 + Missense_Mutation SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr8:109226851T>C ENST00000220849.5 - 10 1108 c.1046A>G c.(1045-1047)cAg>cGg p.Q349R EIF3E_ENST00000519517.1_5'UTR|EIF3E_ENST00000519030.1_Missense_Mutation_p.Q256R NM_001568.2 NP_001559.1 P60228 EIF3E_HUMAN eukaryotic translation initiation factor 3, subunit E 349 PCI. negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|eukaryotic translation initiation factor 3 complex|PML body protein N-terminus binding EIF3E/RSPO2(6) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(57;6.84e-10) GCTGATACACTGGTGGATGCG 0.348000 4 120 0 0 0.014758 0 0 ITGAL 3683 broad.mit.edu 37 16 30500667 30500667 + Silent SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr16:30500667G>T ENST00000356798.6 + 11 1353 c.1173G>T c.(1171-1173)ggG>ggT p.G391G RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000568012.1_Intron|ITGAL_ENST00000358164.5_Silent_p.G308G NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 391 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) CATTTATTGGGAATGAACCAT 0.542000 26 139 2.79863e-10 3.64911e-10 0.024334 1 0 EDIL3 10085 broad.mit.edu 37 5 83239258 83239258 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:83239258C>A ENST00000296591.5 - 11 1841 c.1423G>T c.(1423-1425)Ggc>Tgc p.G475C EDIL3_ENST00000380138.3_Missense_Mutation_p.G465C NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 475 F5/8 type C 2. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) TCTGTGCAGCCCAGCAGCTCT 0.483000 8 160 0.000157383 0.000175071 0.003080 1 0 PDE4C 5143 broad.mit.edu 37 19 18327622 18327622 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:18327622C>T ENST00000355502.3 - 16 2285 c.1414G>A c.(1414-1416)Gag>Aag p.E472K PDE4C_ENST00000447275.2_Missense_Mutation_p.E366K|PDE4C_ENST00000594617.2_Missense_Mutation_p.E472K|PDE4C_ENST00000594465.2_Missense_Mutation_p.E472K|PDE4C_ENST00000539010.1_Missense_Mutation_p.E241K|PDE4C_ENST00000262805.11_Missense_Mutation_p.E440K|AC068499.10_ENST00000594805.2_RNA Q08493 PDE4C_HUMAN phosphodiesterase 4C, cAMP-specific 472 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) TCGCAGTTCTCTGCCTGCAGC 0.592000 12 86 0 0 0.016723 0 0 UNC79 57578 broad.mit.edu 37 14 94041498 94041498 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr14:94041498G>A ENST00000553484.1 + 17 2319 c.2165G>A c.(2164-2166)aGa>aAa p.R722K UNC79_ENST00000393151.2_Missense_Mutation_p.R722K|UNC79_ENST00000555664.1_Missense_Mutation_p.R722K|UNC79_ENST00000256339.4_Missense_Mutation_p.R545K Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 722 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GCAAATCAAAGAAAATCAAGA 0.373000 16 134 0 0 0.004990 0 0 CCDC13 152206 broad.mit.edu 37 3 42799745 42799745 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:42799745C>G ENST00000310232.6 - 2 176 c.93G>C c.(91-93)gaG>gaC p.E31D CCDC13_ENST00000435327.2_5'UTR NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 31 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 CCCTCTTTTTCTCCATCTGCT 0.532000 5 207 0 0 0.001984 0 0 ZNF287 57336 broad.mit.edu 37 17 16456620 16456620 + Missense_Mutation SNP C C T rs145649102 TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:16456620C>T ENST00000395824.1 - 6 1453 c.836G>A c.(835-837)cGa>cAa p.R279Q ZNF287_ENST00000395825.3_Missense_Mutation_p.R279Q Q9HBT7 ZN287_HUMAN zinc finger protein 287 272 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) ACCTTTTCCTCGCCTCTCTAG 0.398000 6 467 0 0 0.003080 0 0 TSIX 9383 broad.mit.edu 37 X 73046337 73046337 + RNA SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:73046337A>T ENST00000604411.1 + 0 34298 XIST_ENST00000429829.1_lincRNA NR_003255.2 AGACTGGCCCAGGCATAATAC 0.368000 4 60 0 0 0.009096 0 0 ACSM1 116285 broad.mit.edu 37 16 20696552 20696552 + Silent SNP A A G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr16:20696552A>G ENST00000307493.4 - 2 433 c.366T>C c.(364-366)ccT>ccC p.P122P ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.P122P NM_052956.2 NP_443188.2 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 122 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 GCCACCACTCAGGAACTCGAG 0.587000 18 185 0 0 0.008871 0 0 DNAH8 1769 broad.mit.edu 37 6 38854616 38854616 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:38854616G>T ENST00000359357.3 + 55 7912 c.7658G>T c.(7657-7659)aGc>aTc p.S2553I DNAH8_ENST00000449981.2_Missense_Mutation_p.S2770I|DNAH8_ENST00000441566.1_Missense_Mutation_p.S2517I dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GGAATGTACAGCTTGGACAAG 0.398000 25 209 9.65021e-13 1.29512e-12 0.010818 1 0 PLXNA4 91584 broad.mit.edu 37 7 132174109 132174109 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:132174109T>A ENST00000359827.3 - 3 2275 c.1313A>T c.(1312-1314)tAt>tTt p.Y438F PLXNA4_ENST00000423507.2_Missense_Mutation_p.Y438F|PLXNA4_ENST00000321063.4_Missense_Mutation_p.Y438F|PLXNA4_ENST00000378539.5_Missense_Mutation_p.Y438F Q9HCM2 PLXA4_HUMAN plexin A4 438 Sema. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CTTGTAGACATATGCGATGAC 0.527000 8 64 0 0 0.003080 0 0 FAT4 79633 broad.mit.edu 37 4 126389741 126389741 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:126389741G>C ENST00000394329.3 + 11 11987 c.11974G>C c.(11974-11976)Gac>Cac p.D3992H FAT4_ENST00000335110.5_Missense_Mutation_p.D2255H NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3992 Laminin G-like 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TCCAAGCTTGGACCCCAATAA 0.403000 5 101 0 0 0.014758 0 0 STAT4 6775 broad.mit.edu 37 2 191899300 191899300 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:191899300G>A ENST00000392320.2 - 18 1908 c.1594C>T c.(1594-1596)Cac>Tac p.H532Y STAT4_ENST00000358470.4_Missense_Mutation_p.H532Y NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 532 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) CAGGTGAGGTGACCATCACTG 0.353000 6 236 0 0 0.006214 0 0 FLG 2312 broad.mit.edu 37 1 152282444 152282444 + Missense_Mutation SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:152282444T>C ENST00000368799.1 - 3 4953 c.4918A>G c.(4918-4920)Aga>Gga p.R1640G FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1640 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGACTGGCTCTATCTTCTTGA 0.562000 Ichthyosis 6 212 0 0 0.021553 0 0 FAM47A 158724 broad.mit.edu 37 X 34149640 34149640 + Silent SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:34149640G>T ENST00000346193.3 - 1 807 c.756C>A c.(754-756)ccC>ccA p.P252P NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 252 Pro-rich. NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GACGAGTGATGGGAGGCCCCG 0.632000 8 105 0.00621372 0.00654431 0.006214 1 0 BEND2 139105 broad.mit.edu 37 X 18234699 18234699 + Silent SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:18234699T>A ENST00000380033.4 - 2 312 c.180A>T c.(178-180)acA>acT p.T60T BEND2_ENST00000380030.3_Silent_p.T60T NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 60 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 AATTTGGTTGTGTGGCTGTGT 0.403000 6 216 0 0 0.003080 0 0 POLR1B 84172 broad.mit.edu 37 2 113308449 113308449 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:113308449C>T ENST00000263331.5 + 5 1212 c.632C>T c.(631-633)tCa>tTa p.S211L POLR1B_ENST00000409894.3_Missense_Mutation_p.S211L|POLR1B_ENST00000417433.2_Missense_Mutation_p.S155L|POLR1B_ENST00000537335.1_5'UTR|POLR1B_ENST00000541869.1_Missense_Mutation_p.S249L NM_019014.4 NP_061887.2 Q9H9Y6 RPA2_HUMAN polymerase (RNA) I polypeptide B, 128kDa 211 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 ATAGGAGTTTCAATGCACTGT 0.353000 6 92 0 0 0.001984 0 0 KCNH7 90134 broad.mit.edu 37 2 163374376 163374376 + Silent SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:163374376C>A ENST00000332142.5 - 4 855 c.756G>T c.(754-756)ctG>ctT p.L252L KCNH7_ENST00000328032.4_Silent_p.L252L|KCNH7_ENST00000477019.1_5'UTR NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 252 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) AACTTGACTGCAGCATGTCAG 0.498000 15 210 3.52763e-06 4.15212e-06 0.004990 1 0 RICTOR 253260 broad.mit.edu 37 5 38945638 38945638 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:38945638C>A ENST00000357387.3 - 34 4618 c.4588G>T c.(4588-4590)Ggt>Tgt p.G1530C RICTOR_ENST00000296782.5_Missense_Mutation_p.G1554C NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 1530 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) GGCTGGAAACCCAGAATTTCA 0.418000 4 135 1.024e-07 1.26691e-07 0.014758 1 0 UACA 55075 broad.mit.edu 37 15 70959204 70959204 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr15:70959204A>T ENST00000322954.6 - 16 4004 c.3819T>A c.(3817-3819)gaT>gaA p.D1273E UACA_ENST00000539319.1_Missense_Mutation_p.D1164E|UACA_ENST00000379983.2_Missense_Mutation_p.D1260E|UACA_ENST00000560441.1_Missense_Mutation_p.D1258E NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 1273 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 ATTCCTTCTCATCTTTTGCAG 0.343000 69 431 0 0 0.014410 0 0 PRPF8 10594 broad.mit.edu 37 17 1584926 1584926 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:1584926G>A ENST00000572621.1 - 5 977 c.712C>T c.(712-714)Ctc>Ttc p.L238F PRPF8_ENST00000304992.6_Missense_Mutation_p.L238F Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 238 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) AGGCGGTAGAGAGTCGACATC 0.463000 18 214 0 0 0.012319 0 0 IGLV2-23 28813 broad.mit.edu 37 22 23040763 23040763 + RNA SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr22:23040763G>A ENST00000390306.2 + 0 373 CATGATTTATGAGGGCAGTAA 0.552000 5 219 0 0 0.001984 0 0 FGR 2268 broad.mit.edu 37 1 27939493 27939493 + Silent SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:27939493G>A ENST00000374005.3 - 13 1810 c.1522C>T c.(1522-1524)Ctg>Ttg p.L508L FGR_ENST00000545953.1_Silent_p.L442L|FGR_ENST00000374004.1_Silent_p.L508L|FGR_ENST00000399173.1_Silent_p.L508L NM_005248.2 NP_005239.1 P09769 FGR_HUMAN feline Gardner-Rasheed sarcoma viral oncogene homolog 508 Protein kinase. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) AAGGACTGCAGGTACTCGAAG 0.627000 9 118 0 0 0.004482 0 0 ATP2A2 488 broad.mit.edu 37 12 110777088 110777088 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:110777088C>T ENST00000395494.2 + 11 1904 c.1341C>T c.(1339-1341)gtC>gtT p.V447V ATP2A2_ENST00000308664.6_Silent_p.V474V|ATP2A2_ENST00000539276.2_Silent_p.V474V P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 474 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 CTTTGTAGGTCATTAAACAGC 0.383000 17 70 0 0 0.016522 0 0 CTNND2 1501 broad.mit.edu 37 5 11346536 11346536 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:11346536C>G ENST00000304623.8 - 9 1765 c.1576G>C c.(1576-1578)Gaa>Caa p.E526Q CTNND2_ENST00000359640.2_Missense_Mutation_p.E526Q|CTNND2_ENST00000511377.1_Missense_Mutation_p.E435Q|CTNND2_ENST00000503622.1_Missense_Mutation_p.E189Q|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.E93Q NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 526 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 AAGGTGCCTTCAGGCGGGAGA 0.537000 15 142 0 0 0.007413 0 0 LCT 3938 broad.mit.edu 37 2 136575116 136575116 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:136575116G>T ENST00000264162.2 - 6 1512 c.1502C>A c.(1501-1503)cCt>cAt p.P501H NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 501 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CAGGGCCTGAGGCAGGTCCCA 0.602000 8 30 2.74318e-10 3.58755e-10 0.006214 1 0 RASAL2 9462 broad.mit.edu 37 1 178421598 178421598 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:178421598A>T ENST00000448150.3 + 11 2584 c.1766A>T c.(1765-1767)cAg>cTg p.Q589L RASAL2_ENST00000462775.1_Missense_Mutation_p.Q459L|RASAL2_ENST00000367649.3_Missense_Mutation_p.Q607L NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 459 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 TGGAAGCAGCAGTGCCTGAAC 0.463000 15 306 0 0 0.024245 0 0 PNPLA3 80339 broad.mit.edu 37 22 44322827 44322827 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr22:44322827A>T ENST00000216180.3 + 2 373 c.200A>T c.(199-201)cAg>cTg p.Q67L PNPLA3_ENST00000478713.1_3'UTR|PNPLA3_ENST00000423180.2_Missense_Mutation_p.Q63L NM_025225.2 NP_079501.2 Q9NST1 PLPL3_HUMAN patatin-like phospholipase domain containing 3 67 Patatin. triglyceride biosynthetic process|triglyceride catabolic process integral to membrane diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2) 19 Ovarian(80;0.024)|all_neural(38;0.0416) CAGACTCTGCAGGTCCTCTCA 0.498000 3 11 0 0 0.009096 0 0 ABCB4 5244 broad.mit.edu 37 7 87060734 87060734 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:87060734G>T ENST00000265723.4 - 15 1990 c.1879C>A c.(1879-1881)Ctt>Att p.L627I ABCB4_ENST00000545634.1_Missense_Mutation_p.L627I|ABCB4_ENST00000453593.1_Missense_Mutation_p.L627I|ABCB4_ENST00000359206.3_Missense_Mutation_p.L627I|ABCB4_ENST00000358400.3_Missense_Mutation_p.L627I NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 627 ABC transporter 1.|Interaction with HAX1 (By similarity). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) ATGTTGACAAGTTTGAAGTAC 0.403000 12 131 0.0167234 0.0173612 0.016723 1 0 SLC22A16 85413 broad.mit.edu 37 6 110746132 110746132 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:110746132T>A ENST00000368919.3 - 8 1744 c.1678A>T c.(1678-1680)Agt>Tgt p.S560C SLC22A16_ENST00000330550.4_Missense_Mutation_p.S526C NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 560 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) TCCAGCCCACTATTATTAGTT 0.448000 10 540 0 0 0.008291 0 0 ZIC1 7545 broad.mit.edu 37 3 147130438 147130438 + Silent SNP G G T rs147993210 TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:147130438G>T ENST00000282928.4 + 2 1845 c.1116G>T c.(1114-1116)acG>acT p.T372T NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 372 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 AGTCCTACACGCATCCCAGTT 0.602000 11 190 2.80697e-09 3.6007e-09 0.010729 1 0 XCL2 6846 broad.mit.edu 37 1 168510326 168510326 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:168510326G>T ENST00000367819.2 - 3 241 c.209C>A c.(208-210)gCt>gAt p.A70D NM_003175.3 NP_003166.1 Q9UBD3 XCL2_HUMAN chemokine (C motif) ligand 2 70 blood circulation|chemotaxis|immune response|signal transduction extracellular space chemokine activity large_intestine(1)|lung(6)|ovary(1) 8 all_hematologic(923;0.215) TTGTGGATCAGCACAGACTTT 0.478000 45 177 1.07234e-20 1.51625e-20 0.014410 1 0 OR4C6 219432 broad.mit.edu 37 11 55433325 55433325 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:55433325C>A ENST00000314259.3 + 1 712 c.683C>A c.(682-684)tCt>tAt p.S228Y NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 TCTTACAGCTCTAAAGGGCGG 0.493000 57 452 3.57465e-26 5.1892e-26 0.014410 1 0 GOLGA2P5 55592 broad.mit.edu 37 12 100551026 100551026 + RNA SNP T T G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:100551026T>G ENST00000397112.4 - 0 1901 NR_036632.1 large_intestine(1)|lung(3) 4 TACAGTGCGATGTACTCTCCT 0.622000 3 44 0 0 0.004672 0 0 XIRP2 129446 broad.mit.edu 37 2 168067256 168067256 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:168067256C>T ENST00000409195.1 + 4 663 c.574C>T c.(574-576)Cct>Tct p.P192S XIRP2_ENST00000409605.1_5'UTR|XIRP2_ENST00000295237.9_Missense_Mutation_p.P192S|XIRP2_ENST00000409043.1_Missense_Mutation_p.P192S|XIRP2_ENST00000409756.2_Missense_Mutation_p.P192S|XIRP2_ENST00000409273.1_5'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.P225S|XIRP2_ENST00000409728.1_Missense_Mutation_p.P225S NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 17 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GACTGCTGGCCCTAATAAGCC 0.483000 19 271 0 0 0.014323 0 0 BTBD11 121551 broad.mit.edu 37 12 108034179 108034179 + Silent SNP A A G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:108034179A>G ENST00000280758.5 + 13 3357 c.2829A>G c.(2827-2829)acA>acG p.T943T BTBD11_ENST00000494235.2_Silent_p.T22T|BTBD11_ENST00000357167.4_Silent_p.T480T|BTBD11_ENST00000490090.2_Silent_p.T943T|BTBD11_ENST00000420571.2_Silent_p.T824T NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 943 BTB. integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 TGTTATTTACAGCCTCTCCAA 0.363000 5 136 0 0 0.021553 0 0 NEB 4703 broad.mit.edu 37 2 152553214 152553214 + Silent SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:152553214G>A ENST00000427231.2 - 17 1708 c.1506C>T c.(1504-1506)ttC>ttT p.F502F NEB_ENST00000604864.1_Silent_p.F502F|NEB_ENST00000172853.10_Silent_p.F502F|NEB_ENST00000409198.1_Silent_p.F502F|NEB_ENST00000397345.3_Silent_p.F502F|NEB_ENST00000603639.1_Silent_p.F502F NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 502 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TAACTTGGGTGAATTTTGTCT 0.458000 20 123 0 0 0.012319 0 0 DDIT4 54541 broad.mit.edu 37 10 74034654 74034654 + Missense_Mutation SNP A A G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:74034654A>G ENST00000307365.3 + 3 608 c.407A>G c.(406-408)tAc>tGc p.Y136C NM_019058.2 NP_061931.1 Q9NX09 DDIT4_HUMAN DNA-damage-inducible transcript 4 136 apoptosis cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1) 12 CGCCTGGCCTACAGCGAGCCG 0.706000 OREG0020262 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 6 0 0 0.004672 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101774323 101774323 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:101774323G>T ENST00000506729.1 - 7 1445 c.1274C>A c.(1273-1275)gCa>gAa p.A425E SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.A425E|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.A363E|SLCO6A1_ENST00000379810.1_Intron Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 425 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) AAATCTACCTGCAAGTGTAGT 0.259000 7 46 7.48243e-07 9.02659e-07 0.006214 1 0 CCDC60 160777 broad.mit.edu 37 12 119966424 119966424 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:119966424C>A ENST00000327554.2 + 12 1699 c.1234C>A c.(1234-1236)Caa>Aaa p.Q412K RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 412 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) TTGTAGGCGCCAAGAAGAGAG 0.418000 145 651 4.72226e-75 6.95954e-75 0.014410 1 0 TTI2 80185 broad.mit.edu 37 8 33369530 33369530 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr8:33369530C>A ENST00000431156.2 - 2 1220 c.602G>T c.(601-603)gGg>gTg p.G201V TTI2_ENST00000360742.5_Missense_Mutation_p.G201V|TTI2_ENST00000520636.1_Missense_Mutation_p.G201V NM_001102401.2 NP_001095871.1 Q6NXR4 CH041_HUMAN TELO2 interacting protein 2 201 binding CGAAAGTCTCCCTTTCTCATC 0.463000 14 184 6.31663e-08 7.8373e-08 0.024245 1 0 LRTM1 57408 broad.mit.edu 37 3 54962005 54962005 + Translation_Start_Site SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:54962005C>T ENST00000273286.5 - 0 96 LRTM1_ENST00000493075.1_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) GAGCAACACACGAAGGGCATG 0.473000 9 194 0 0 0.004482 0 0 PTPDC1 138639 broad.mit.edu 37 9 96827072 96827072 + Silent SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr9:96827072G>A ENST00000375360.3 + 2 391 c.51G>A c.(49-51)gtG>gtA p.V17V NM_001253830.1|NM_177995.2 NP_001240759.1|NP_818931.1 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 17 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 32 CTACCTTGGTGAATAACAGCG 0.373000 17 152 0 0 0.010504 0 0 OR4F5 79501 broad.mit.edu 37 1 69516 69516 + Nonsense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:69516G>A ENST00000335137.3 + 1 426 c.426G>A c.(424-426)tgG>tgA p.W142* NM_001005484.1 NP_001005484.1 Q8NH21 OR4F5_HUMAN olfactory receptor, family 4, subfamily F, member 5 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(1)|ovary(1) 2 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CTGTCACATGGGGAATTGGCT 0.468000 31 203 0 0 0.021022 0 0 SLC8A1 6546 broad.mit.edu 37 2 40366803 40366803 + Silent SNP G G A rs139842575 TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:40366803G>A ENST00000406785.1 - 7 2364 c.2175C>T c.(2173-2175)gaC>gaT p.D725D SLC8A1_ENST00000542756.1_Silent_p.D756D|SLC8A1_ENST00000332839.4_Silent_p.D761D|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000406391.2_Silent_p.D725D|SLC8A1_ENST00000405901.3_Silent_p.D756D|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000405269.1_Silent_p.D725D|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Silent_p.D725D|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000403092.1_Silent_p.D761D|SLC8A1_ENST00000408028.2_Silent_p.D753D|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000542024.1_Silent_p.D725D|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 761 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) ATTCATCGTCGTCATCATCTT 0.502000 13 499 0 0 0.007413 0 0 MFAP3L 9848 broad.mit.edu 37 4 170913210 170913210 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:170913210C>G ENST00000361618.3 - 3 856 c.549G>C c.(547-549)gaG>gaC p.E183D MFAP3L_ENST00000393704.3_Missense_Mutation_p.E80D|RP11-6E9.4_ENST00000508955.1_RNA NM_021647.6 NP_067679.6 O75121 MFA3L_HUMAN microfibrillar-associated protein 3-like 183 integral to membrane|plasma membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) TGATGGCCTTCTCAGTCTTCT 0.522000 19 164 0 0 0.014323 0 0 GAPDHS 26330 broad.mit.edu 37 19 36035883 36035883 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:36035883G>A ENST00000222286.4 + 10 1245 c.1129G>A c.(1129-1131)Gac>Aac p.D377N AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000588286.1_RNA NM_014364.4 NP_055179.1 O14556 G3PT_HUMAN glyceraldehyde-3-phosphate dehydrogenase, spermatogenic 377 gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility cytosol glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(8) 11 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) NADH(DB00157) TGCGCTCAATGACAATTTCGT 0.522000 5 107 0 0 0.021553 0 0 SNX19 399979 broad.mit.edu 37 11 130785061 130785061 + Silent SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:130785061G>A ENST00000265909.4 - 1 1343 c.774C>T c.(772-774)gaC>gaT p.D258D SNX19_ENST00000530356.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Silent_p.D258D NM_014758.2 NP_055573.2 Q92543 SNX19_HUMAN sorting nexin 19 258 PXA. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) GGTGGATCCAGTCAGGATCTG 0.562000 16 152 0 0 0.028581 0 0 LRIT2 340745 broad.mit.edu 37 10 85981770 85981770 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:85981770G>A ENST00000372113.4 - 3 1564 c.1559C>T c.(1558-1560)tCc>tTc p.S520F LRIT2_ENST00000538192.1_Missense_Mutation_p.S530F NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 520 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 TTCTCTAAAGGAGCCATCCTT 0.597000 18 166 0 0 0.008871 0 0 DCDC1 341019 broad.mit.edu 37 11 30928187 30928187 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:30928187A>T ENST00000597505.1 - 28 4003 c.4004T>A c.(4003-4005)cTg>cAg p.L1335Q DCDC1_ENST00000406071.2_Missense_Mutation_p.L70Q|DCDC1_ENST00000339794.5_Missense_Mutation_p.L414Q P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) CAATTGTTTCAGTCCTTTCTC 0.463000 7 62 0 0 0.001984 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43896100 43896100 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:43896100G>A ENST00000389420.3 - 4 721 c.722C>T c.(721-723)cCa>cTa p.P241L ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P241L NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 241 proteinaceous extracellular matrix zinc ion binding p.P241L(2) breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) ATCTTTCAATGGTACATTTTT 0.328000 7 124 0 0 0.001984 0 0 ACAN 176 broad.mit.edu 37 15 89400993 89400993 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr15:89400993G>T ENST00000439576.2 + 12 5551 c.5177G>T c.(5176-5178)aGt>aTt p.S1726I ACAN_ENST00000561243.1_Missense_Mutation_p.S1726I|ACAN_ENST00000559004.1_Missense_Mutation_p.S1726I|ACAN_ENST00000352105.7_Missense_Mutation_p.S1726I NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1726 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CCTGATGTCAGTGGGGAAATA 0.547000 7 115 0.00448238 0.00476116 0.004482 1 0 POLA1 5422 broad.mit.edu 37 X 24722559 24722559 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:24722559G>C ENST00000379068.3 + 4 362 c.319G>C c.(319-321)Gat>Cat p.D107H POLA1_ENST00000379059.3_Missense_Mutation_p.D101H P09884 DPOLA_HUMAN polymerase (DNA directed), alpha 1, catalytic subunit 101 Asp-rich. cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2) 11 Clofarabine(DB00631)|Fludarabine(DB01073) TGACCTTGAAGATGATGCCCT 0.378000 25 812 0 0 0.024334 0 0 APOB 338 broad.mit.edu 37 2 21229477 21229477 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:21229477C>A ENST00000233242.1 - 26 10390 c.10263G>T c.(10261-10263)atG>atT p.M3421I NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3421 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTGACACTTCCATATTTTTCG 0.393000 13 348 7.93312e-07 9.54385e-07 0.020292 1 0 TSHZ3 57616 broad.mit.edu 37 19 31769564 31769564 + Nonsense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:31769564C>A ENST00000240587.4 - 2 1462 c.1135G>T c.(1135-1137)Gag>Tag p.E379* NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 379 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TTCCGGGCCTCAAAGTGCCAT 0.552000 9 341 1.76689e-08 2.22716e-08 0.006214 1 0 HECTD4 283450 broad.mit.edu 37 12 112701973 112701973 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:112701973T>A ENST00000550722.1 - 17 2626 c.2231A>T c.(2230-2232)cAc>cTc p.H744L HECTD4_ENST00000377560.5_Missense_Mutation_p.H706L|HECTD4_ENST00000430131.2_Missense_Mutation_p.H456L NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 ACTGAGAAGGTGATTCTGAAC 0.418000 3 18 0 0 0.009096 0 0 KCNB1 3745 broad.mit.edu 37 20 48098496 48098496 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr20:48098496T>A ENST00000371741.4 - 1 688 c.522A>T c.(520-522)aaA>aaT p.K174N NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 174 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGTCCCAGAGTTTTTTCCTCT 0.582000 24 222 0 0 0.008361 0 0 SLC25A19 60386 broad.mit.edu 37 17 73273565 73273565 + Splice_Site SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:73273565C>G ENST00000402418.3 - 5 1553 c.e5-1 SLC25A19_ENST00000320362.3_Splice_Site|SLC25A19_ENST00000416858.2_Splice_Site|SLC25A19_ENST00000580994.1_Splice_Site|SLC25A19_ENST00000442286.2_Splice_Site|SLC25A19_ENST00000375261.4_Splice_Site Q9HC21 TPC_HUMAN solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 integral to membrane|mitochondrial inner membrane binding|deoxynucleotide transmembrane transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08) all cancers(21;6.82e-07)|Epithelial(20;6.86e-06) TGGAGGTTCTCTGAACCAGAG 0.507000 3 21 0 0 0.014758 0 0 NR1I2 8856 broad.mit.edu 37 3 119531736 119531736 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:119531736C>T ENST00000393716.2 + 5 2562 c.723C>T c.(721-723)ccC>ccT p.P241P NR1I2_ENST00000466380.1_Silent_p.P204P|NR1I2_ENST00000337940.4_Silent_p.P280P NM_003889.3 NP_003880.3 O75469 NR1I2_HUMAN nuclear receptor subfamily 1, group I, member 2 241 Ligand-binding. drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport nucleoplasm drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.175) Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163) CCCTGCTGCCCCACATGGCTG 0.547000 8 38 0 0 0.004482 0 0 SLC9A6 10479 broad.mit.edu 37 X 135126719 135126719 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:135126719G>T ENST00000370695.4 + 16 1977 c.1942G>T c.(1942-1944)Gcc>Tcc p.A648S SLC9A6_ENST00000370698.3_Missense_Mutation_p.A616S|SLC9A6_ENST00000370701.1_Missense_Mutation_p.A596S NM_001042537.1 NP_001036002.1 Q92581 SL9A6_HUMAN solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 616 regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) CACATCCAGCGCCCCAAGGAG 0.463000 45 121 1.83081e-24 2.63141e-24 0.014410 1 0 SV2C 22987 broad.mit.edu 37 5 75427582 75427582 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:75427582G>C ENST00000502798.2 + 2 449 c.7G>C c.(7-9)Gac>Cac p.D3H SV2C_ENST00000322285.7_Missense_Mutation_p.D3H NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 3 Interaction with SYT1 (By similarity). neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) TAAGATGGAAGACTCTTACAA 0.453000 17 130 0 0 0.007413 0 0 SPG11 80208 broad.mit.edu 37 15 44900770 44900770 + Nonsense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr15:44900770T>A ENST00000261866.7 - 19 3341 c.3325A>T c.(3325-3327)Aag>Tag p.K1109* SPG11_ENST00000427534.2_Nonsense_Mutation_p.K1109*|SPG11_ENST00000535302.2_Nonsense_Mutation_p.K1109*|SPG11_ENST00000558319.1_Nonsense_Mutation_p.K1109* NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 1109 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TCCACTTTCTTCAAACAGTTT 0.393000 4 51 0 0 0.009096 0 0 SHOX 6473 broad.mit.edu 37 X 591812 591812 + Silent SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:591812G>C ENST00000381578.1 + 2 871 c.180G>C c.(178-180)acG>acC p.T60T SHOX_ENST00000334060.3_Silent_p.T60T|SHOX_ENST00000554971.1_Silent_p.T60T|SHOX_ENST00000381575.1_Silent_p.T60T NM_000451.3 NP_000442.1 O15266 SHOX_HUMAN short stature homeobox 60 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(9)|prostate(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AGGACATCACGGAGGGCGGCG 0.582000 3 7 0 0 0.004672 0 0 CCKAR 886 broad.mit.edu 37 4 26491865 26491865 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:26491865C>G ENST00000295589.3 - 1 219 c.25G>C c.(25-27)Gtg>Ctg p.V9L NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 9 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) CTTCCATTCACAAGAAGGCTG 0.522000 4 91 0 0 0.009096 0 0 PSG3 5671 broad.mit.edu 37 19 43233370 43233370 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:43233370T>A ENST00000327495.5 - 5 1332 c.1148A>T c.(1147-1149)cAg>cTg p.Q383L PSG3_ENST00000595140.1_Missense_Mutation_p.Q383L NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 383 Ig-like C2-type 3. Missing (in Ref. 9). defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) TGTAGTAATCTGGGGGATAAA 0.463000 79 335 0 0 0.014410 0 0 C5orf42 65250 broad.mit.edu 37 5 37183732 37183732 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:37183732C>G ENST00000274258.7 - 26 4781 c.1194G>C c.(1192-1194)caG>caC p.Q398H C5orf42_ENST00000425232.2_Missense_Mutation_p.Q1517H|C5orf42_ENST00000508244.1_Missense_Mutation_p.Q1517H E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 1517 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) GATTTTCTTTCTGATTACACA 0.289000 6 33 0 0 0.021553 0 0 OR5D14 219436 broad.mit.edu 37 11 55563767 55563767 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:55563767C>T ENST00000335605.1 + 1 736 c.736C>T c.(736-738)Cac>Tac p.H246Y NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) CTGGGCCTCCCACCTGACTTC 0.458000 11 66 0 0 0.010729 0 0 KIAA1524 57650 broad.mit.edu 37 3 108278852 108278852 + Silent SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:108278852C>A ENST00000295746.8 - 15 1927 c.1851G>T c.(1849-1851)gtG>gtT p.V617V KIAA1524_ENST00000491772.1_Silent_p.V458V NM_020890.2 NP_065941.2 Q8TCG1 CIP2A_HUMAN KIAA1524 617 cytoplasm|integral to membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CAGATATTCTCACATCACAAA 0.254000 12 92 5.16669e-11 6.87051e-11 0.010729 1 0 MACF1 23499 broad.mit.edu 37 1 39926448 39926448 + Missense_Mutation SNP G G C rs150495633 TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:39926448G>C ENST00000564288.1 + 92 22282 c.21505G>C c.(21505-21507)Gat>Cat p.D7169H MACF1_ENST00000545844.1_Missense_Mutation_p.D5110H|MACF1_ENST00000567887.1_Missense_Mutation_p.D7206H|MACF1_ENST00000361689.2_Missense_Mutation_p.D5110H|MACF1_ENST00000372915.3_Missense_Mutation_p.D7068H|MACF1_ENST00000317713.7_Missense_Mutation_p.D5110H|MACF1_ENST00000539005.1_Missense_Mutation_p.D4980H|MACF1_ENST00000289893.4_Missense_Mutation_p.D5612H Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 7068 C-terminal tail (By similarity).|GAR. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GGAGTTTATCGATGGCATTTT 0.433000 14 109 0 0 0.008871 0 0 RGP1 9827 broad.mit.edu 37 9 35750242 35750242 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr9:35750242A>T ENST00000378078.4 + 3 260 c.119A>T c.(118-120)gAg>gTg p.E40V RGP1_ENST00000456972.2_Missense_Mutation_p.E80V NM_001080496.2 NP_001073965.2 Q92546 RGP1_HUMAN RGP1 retrograde golgi transport homolog (S. cerevisiae) 40 cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TCCCACAGTGAGGCCCTGGCC 0.532000 5 49 0 0 0.014758 0 0 RGAG1 57529 broad.mit.edu 37 X 109697404 109697404 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:109697404G>T ENST00000465301.2 + 3 3805 c.3559G>T c.(3559-3561)Gca>Tca p.A1187S RGAG1_ENST00000540313.1_Missense_Mutation_p.A1187S NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 1187 p.A1187T(1) 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 AGAGAGAATGGCATTTCTGGT 0.478000 7 222 0.00448238 0.00476116 0.004482 1 0 ZNF525 170958 broad.mit.edu 37 19 53884796 53884796 + Missense_Mutation SNP A A G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:53884796A>G ENST00000467003.1 + 4 1057 c.856A>G c.(856-858)Act>Gct p.T286A ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.T322A|ZNF525_ENST00000355326.3_Missense_Mutation_p.T40A|ZNF525_ENST00000593918.1_Intron zinc finger protein 525 endometrium(3)|kidney(3)|lung(3) 9 GAGAATTCATACTGGAGAGAA 0.398000 5 63 0 0 0.001984 0 0 GSS 2937 broad.mit.edu 37 20 33539581 33539581 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr20:33539581C>T ENST00000216951.2 - 2 173 c.75G>A c.(73-75)cgG>cgA p.R25R GSS_ENST00000451957.2_Silent_p.R25R NM_000178.2 NP_000169.1 P48637 GSHB_HUMAN glutathione synthetase 25 nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) CAGCCAGGGCCCGGTCCACGG 0.612000 5 30 0 0 0.014758 0 0 GK2 2712 broad.mit.edu 37 4 80328737 80328737 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:80328737C>A ENST00000358842.3 - 1 635 c.618G>T c.(616-618)atG>atT p.M206I NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 206 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 TATTAAAAAGCATTGTCCTAC 0.383000 8 293 0.000274275 0.00030355 0.004482 1 0 CNTN1 1272 broad.mit.edu 37 12 41421699 41421699 + Silent SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:41421699T>A ENST00000551295.2 + 22 2868 c.2751T>A c.(2749-2751)tcT>tcA p.S917S CNTN1_ENST00000347616.1_Silent_p.S917S|CNTN1_ENST00000348761.2_Silent_p.S906S|CNTN1_ENST00000550305.1_3'UTR NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 917 Fibronectin type-III 4. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) CAGTAAGGTCTGGTTCACGCT 0.388000 7 172 0 0 0.004482 0 0 CCER1 196477 broad.mit.edu 37 12 91348303 91348303 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:91348303G>T ENST00000358859.2 - 1 650 c.217C>A c.(217-219)Ccg>Acg p.P73T CCER1_ENST00000548187.1_Intron NM_152638.2 NP_689851.1 coiled-coil glutamate-rich protein 1 CAAAAGCCCGGGCCGTGCTGT 0.647000 8 21 0.000442599 0.000487363 0.006214 1 0 ATR 545 broad.mit.edu 37 3 142176508 142176508 + Silent SNP A A C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:142176508A>C ENST00000350721.4 - 45 7714 c.7593T>G c.(7591-7593)ctT>ctG p.L2531L ATR_ENST00000383101.3_Silent_p.L2467L NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 2531 PI3K/PI4K. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 CTCTTCGAAAAAGACCCTCTG 0.398000 Other conserved DNA damage response genes 4 159 0 0 0.021553 0 0 ZBED4 9889 broad.mit.edu 37 22 50277373 50277373 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr22:50277373G>C ENST00000216268.4 + 2 540 c.63G>C c.(61-63)aaG>aaC p.K21N NM_014838.2 NP_055653.2 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 21 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) ATAAAATAAAGTTTAAAATAG 0.398000 4 50 0 0 0.009096 0 0 PTPRM 5797 broad.mit.edu 37 18 8394505 8394505 + Missense_Mutation SNP G G T rs142178302 by1000genomes TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr18:8394505G>T ENST00000332175.8 + 30 5238 c.4201G>T c.(4201-4203)Gcc>Tcc p.A1401S PTPRM_ENST00000400053.4_Missense_Mutation_p.A1339S|PTPRM_ENST00000444013.1_Missense_Mutation_p.A1188S|PTPRM_ENST00000580170.1_Missense_Mutation_p.A1414S|PTPRM_ENST00000400060.4_Missense_Mutation_p.A1415S NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 1401 Tyrosine-protein phosphatase 2. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity p.A1401T(1) breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) GACGTTCTGCGCCATCAGCAT 0.537000 10 39 7.48243e-07 9.02659e-07 0.006214 1 0 PDILT 204474 broad.mit.edu 37 16 20370859 20370859 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr16:20370859C>G ENST00000302451.4 - 12 1785 c.1537G>C c.(1537-1539)Gaa>Caa p.E513Q NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 513 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 ACTTCCTCTTCTATCACTTCA 0.463000 19 229 0 0 0.006122 0 0 NME8 51314 broad.mit.edu 37 7 37907439 37907439 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:37907439G>C ENST00000199447.4 + 11 1129 c.757G>C c.(757-759)Gag>Cag p.E253Q EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.E253Q NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 253 NDK 1. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity CGAACGATCTGAGGATCAACC 0.443000 9 87 0 0 0.004482 0 0 CAPN11 11131 broad.mit.edu 37 6 44148513 44148513 + Missense_Mutation SNP A A G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:44148513A>G ENST00000542245.1 + 17 1813 c.1775A>G c.(1774-1776)cAg>cGg p.Q592R CAPN11_ENST00000398776.1_Missense_Mutation_p.Q592R Q9UMQ6 CAN11_HUMAN calpain 11 592 Domain IV. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 36 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TATGAGCTCCAGAGGCTGCTC 0.602000 8 62 0 0 0.004482 0 0 TMCO4 255104 broad.mit.edu 37 1 20009735 20009735 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:20009735C>T ENST00000294543.6 - 16 1944 c.1703G>A c.(1702-1704)gGa>gAa p.G568E TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Missense_Mutation_p.G528E|TMCO4_ENST00000375127.1_Intron NM_181719.4 NP_859070.3 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 568 integral to membrane biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) GGAGGTGTCTCCGGATATGGG 0.667000 9 56 0 0 0.006214 0 0 PHYHIP 9796 broad.mit.edu 37 8 22084444 22084444 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr8:22084444G>A ENST00000454243.2 - 3 834 c.260C>T c.(259-261)gCc>gTc p.A87V PHYHIP_ENST00000321613.3_Missense_Mutation_p.A87V NM_014759.3 NP_055574.3 Q92561 PHYIP_HUMAN phytanoyl-CoA 2-hydroxylase interacting protein 87 Fibronectin type-III. endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 10 Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629) CGTCTGCACGGCCACACTGTA 0.652000 8 40 0 0 0.008291 0 0 TMC4 147798 broad.mit.edu 37 19 54675826 54675826 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:54675826C>G ENST00000376591.4 - 2 255 c.124G>C c.(124-126)Gag>Cag p.E42Q TMC4_ENST00000301187.4_Missense_Mutation_p.E36Q NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 42 integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CTGGGCAGCTCGTTCAGCACA 0.652000 4 75 0 0 0.009096 0 0 AMOT 154796 broad.mit.edu 37 X 112024289 112024289 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:112024289C>A ENST00000371959.3 - 9 2297 c.2298G>T c.(2296-2298)caG>caT p.Q766H AMOT_ENST00000371962.1_Missense_Mutation_p.Q534H|AMOT_ENST00000371958.1_Missense_Mutation_p.Q534H|AMOT_ENST00000304758.1_Missense_Mutation_p.Q357H|AMOT_ENST00000524145.1_Missense_Mutation_p.Q766H NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 766 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 GGGAACGCTGCTGGAGTACTT 0.512000 11 652 1.58986e-06 1.90478e-06 0.008291 1 0 TTN 7273 broad.mit.edu 37 2 179611114 179611114 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:179611114G>T ENST00000360870.5 - 46 16235 c.16013C>A c.(16012-16014)cCt>cAt p.P5338H TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8847 Ig-like 34. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTATGGTCAGGAGTAAATTC 0.348000 16 98 2.48551e-13 3.34602e-13 0.004990 1 0 TRHDE 29953 broad.mit.edu 37 12 72956678 72956678 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:72956678G>C ENST00000261180.4 + 9 1861 c.1765G>C c.(1765-1767)Gat>Cat p.D589H TRHDE_ENST00000549138.1_3'UTR NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 589 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 AGAAGTAATGGATCAGTGGAC 0.303000 9 174 0 0 0.010729 0 0 HLF 3131 broad.mit.edu 37 17 53398040 53398040 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:53398040G>T ENST00000226067.5 + 4 1161 c.688G>T c.(688-690)Gca>Tca p.A230S HLF_ENST00000573945.1_Missense_Mutation_p.A145S|HLF_ENST00000575345.1_Missense_Mutation_p.A145S|HLF_ENST00000575307.1_3'UTR|HLF_ENST00000430986.2_Missense_Mutation_p.A145S NM_002126.4 NP_002117.1 Q16534 HLF_HUMAN hepatic leukemia factor 230 multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(2) 3 CAAGTACTGGGCAAGGCGCAG 0.557000 T TCF3 ALL 10 63 7.48243e-07 9.02659e-07 0.006214 1 0 USP18 11274 broad.mit.edu 37 22 18642967 18642967 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr22:18642967G>C ENST00000215794.7 + 3 616 c.186G>C c.(184-186)caG>caC p.Q62H NM_017414.3 NP_059110.2 Q9UMW8 UBP18_HUMAN ubiquitin specific peptidase 18 62 regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process cytosol|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1) 10 ACATTGGACAGACCTGCTGCC 0.463000 10 84 0 0 0.010729 0 0 KIAA1109 84162 broad.mit.edu 37 4 123222457 123222457 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:123222457G>T ENST00000264501.4 + 55 9764 c.9391G>T c.(9391-9393)Ggg>Tgg p.G3131W KIAA1109_ENST00000388738.3_Missense_Mutation_p.G3131W|KIAA1109_ENST00000455637.1_Missense_Mutation_p.G3131W Q2LD37 K1109_HUMAN KIAA1109 3131 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TCCTTTAGGTGGGGAGCAGCC 0.333000 8 36 3.86212e-05 4.3858e-05 0.008291 1 0 AKR1E2 83592 broad.mit.edu 37 10 4889419 4889419 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:4889419C>T ENST00000298375.7 + 9 988 c.917C>T c.(916-918)cCc>cTc p.P306L AKR1E2_ENST00000345253.5_Missense_Mutation_p.P208L|AKR1E2_ENST00000334019.4_Missense_Mutation_p.P249L|AKR1E2_ENST00000532248.1_Missense_Mutation_p.P249L NM_001040177.1 NP_001035267.1 Q96JD6 AKCL2_HUMAN aldo-keto reductase family 1, member E2 306 cytoplasm 1,5-anhydro-D-fructose reductase activity NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9) 15 GCCATGTTCCCCATGTAAATA 0.358000 17 267 0 0 0.012319 0 0 IGKV2D-29 28882 broad.mit.edu 37 2 89986919 89986919 + RNA SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:89986919A>T ENST00000491977.1 + 0 230 AAGCCAGGCCAGCCTCCACAG 0.532000 6 32 0 0 0.001984 0 0 MIR30B 407030 broad.mit.edu 37 8 135812831 135812831 + RNA SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr8:135812831T>C ENST00000384850.1 - 0 19 NR_029666.1 GTAGGATGTTTACATGAACTG 0.373000 2 7 0 0 0.004672 0 0 RDH16 8608 broad.mit.edu 37 12 57351181 57351181 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:57351181C>T ENST00000398138.3 - 1 922 c.66G>A c.(64-66)caG>caA p.Q22Q RDH16_ENST00000360752.4_5'UTR NM_003708.3 NP_003699.3 O75452 RDH16_HUMAN retinol dehydrogenase 16 (all-trans) 22 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome binding|electron carrier activity|retinol dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9) 16 GGCTCAGCACCTGCCTCTCCC 0.587000 24 100 0 0 0.027356 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752678 62752678 + RNA SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:62752678G>A ENST00000331425.6 - 0 757 NR_003952.1 TCTCCAGTATGAATTCTCTTA 0.428000 5 103 0 0 0.021553 0 0 KIF5C 3800 broad.mit.edu 37 2 149840214 149840214 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:149840214C>T ENST00000435030.1 + 15 2018 c.1650C>T c.(1648-1650)atC>atT p.I550I KIF5C_ENST00000414838.2_Silent_p.I455I|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Silent_p.I318I O60282 KIF5C_HUMAN kinesin family member 5C 550 microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity p.I453I(1)|p.I550I(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(221;0.108) CAACTGAGATCCTGAATTTGC 0.438000 6 118 0 0 0.021553 0 0 FER 2241 broad.mit.edu 37 5 108134022 108134022 + Nonsense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:108134022C>T ENST00000281092.4 + 3 523 c.139C>T c.(139-141)Cag>Tag p.Q47* FER_ENST00000438717.2_5'UTR|FER_ENST00000502752.1_3'UTR|FER_ENST00000536402.1_Nonsense_Mutation_p.Q47* NM_005246.2 NP_005237.2 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 47 FCH.|Important for interaction with membranes containing phosphoinositides. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 32 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) ATCTACTTTACAGAACCTTTG 0.318000 4 81 0 0 0.009096 0 0 TTBK1 84630 broad.mit.edu 37 6 43251485 43251485 + Silent SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:43251485C>A ENST00000259750.4 + 14 3090 c.3007C>A c.(3007-3009)Cgg>Agg p.R1003R NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 1003 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity p.R1003G(1) breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) TGGGGCCCCCCGGGAAACCCC 0.697000 15 76 8.00594e-06 9.32242e-06 0.007413 1 0 EPHA3 2042 broad.mit.edu 37 3 89259568 89259568 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:89259568G>T ENST00000336596.2 + 3 937 c.712G>T c.(712-714)Gat>Tat p.D238Y EPHA3_ENST00000452448.2_Missense_Mutation_p.D238Y|EPHA3_ENST00000494014.1_Missense_Mutation_p.D238Y NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 238 Cys-rich. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TAAGGAGGAAGATCCTCCAAG 0.483000 TSP Lung(6;0.00050) 32 708 3.62531e-18 5.06032e-18 0.019004 1 0 KCNJ8 3764 broad.mit.edu 37 12 21926239 21926239 + Silent SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:21926239G>A ENST00000240662.2 - 2 657 c.312C>T c.(310-312)taC>taT p.Y104Y NM_004982.3 NP_004973.1 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel, subfamily J, member 8 104 voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) TTTTCTCCATGTAAGCATAGA 0.498000 OREG0021704 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 324 375 0 0 0.014410 0 0 CUX2 23316 broad.mit.edu 37 12 111786100 111786100 + Silent SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:111786100C>A ENST00000261726.6 + 22 4586 c.4432C>A c.(4432-4434)Cgg>Agg p.R1478R NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 1478 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GGCTGCCAATCGGGAGGAGGC 0.572000 5 46 0.00307968 0.00328323 0.003080 1 0 SPATA13 221178 broad.mit.edu 37 13 24852922 24852922 + Silent SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr13:24852922T>C ENST00000343003.6 + 2 299 c.84T>C c.(82-84)taT>taC p.Y28Y SPATA13_ENST00000424834.2_Intron|SPATA13_ENST00000409126.1_Intron|SPATA13_ENST00000382095.4_Intron|SPATA13_ENST00000382108.3_Intron|SPATA13_ENST00000399949.2_Intron Q96N96 SPT13_HUMAN spermatogenesis associated 13 0 cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction cytoplasm|filopodium|lamellipodium|ruffle membrane protein binding|Rac guanyl-nucleotide exchange factor activity breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279) all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231) AAGAAAAATATAGAAAAGAAA 0.363000 5 49 0 0 0.001984 0 0 CALCR 799 broad.mit.edu 37 7 93091394 93091394 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:93091394A>T ENST00000359558.2 - 9 903 c.604T>A c.(604-606)Tgg>Agg p.W202R CALCR_ENST00000426151.1_Intron|CALCR_ENST00000421592.1_Missense_Mutation_p.W184R|CALCR_ENST00000360249.4_Missense_Mutation_p.W184R|CALCR_ENST00000394441.1_Intron NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 184 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) CTATATTTCCAATTCAAAGGA 0.284000 4 12 0 0 0.009096 0 0 OR2J2 26707 broad.mit.edu 37 6 29141926 29141926 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:29141926C>T ENST00000377167.2 + 1 616 c.514C>T c.(514-516)Cat>Tat p.H172Y NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 CCTTTGTGGACATCGCCTAGT 0.478000 139 479 0 0 0.014410 0 0 APOB 338 broad.mit.edu 37 2 21237343 21237343 + Silent SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:21237343G>T ENST00000233242.1 - 24 3946 c.3819C>A c.(3817-3819)atC>atA p.I1273I NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1273 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GGTTTTCTGGGATGTGGAAGT 0.413000 5 232 3.59834e-05 4.09158e-05 0.021553 1 0 SLC5A6 8884 broad.mit.edu 37 2 27426162 27426162 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:27426162C>T ENST00000310574.3 - 11 1619 c.1146G>A c.(1144-1146)ctG>ctA p.L382L SLC5A6_ENST00000461319.1_5'UTR|SLC5A6_ENST00000408041.1_Silent_p.L382L NM_021095.2 NP_066918.2 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6 382 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) AAGGTCGAATCAGGTCTTCCA 0.483000 10 177 0 0 0.010729 0 0 ATP8A2 51761 broad.mit.edu 37 13 26125603 26125603 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr13:26125603G>T ENST00000381655.2 + 11 1161 c.1019G>T c.(1018-1020)aGg>aTg p.R340M ATP8A2_ENST00000255283.8_Missense_Mutation_p.R300M NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 300 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) TACTGGAACAGGTCTCATGGT 0.493000 5 160 8.12818e-05 9.14683e-05 0.001984 1 0 JMJD1C 221037 broad.mit.edu 37 10 64953137 64953137 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:64953137C>T ENST00000399262.2 - 15 6048 c.5830G>A c.(5830-5832)Gga>Aga p.G1944R JMJD1C_ENST00000542921.1_Missense_Mutation_p.G1762R|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Missense_Mutation_p.G1725R NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1944 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) GGAAAATTTCCAACTTGTAAA 0.303000 4 38 0 0 0.009096 0 0 HOXA5 3202 broad.mit.edu 37 7 27182784 27182784 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:27182784C>T ENST00000222726.3 - 1 503 c.443G>A c.(442-444)gGa>gAa p.G148E HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA NM_019102.3 NP_061975.2 P20719 HXA5_HUMAN homeobox A5 148 negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1) 16 CTCCTCGGCTCCGGACGCCGT 0.721000 6 79 0 0 0.021553 0 0 PDHA2 5161 broad.mit.edu 37 4 96761628 96761628 + Silent SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:96761628G>C ENST00000295266.4 + 1 390 c.327G>C c.(325-327)tcG>tcC p.S109S NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 109 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) TAAACCCCTCGGATCACGTCA 0.522000 43 188 0 0 0.014410 0 0 UGGT2 55757 broad.mit.edu 37 13 96505871 96505871 + Nonsense_Mutation SNP C C A rs143548603 TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr13:96505871C>A ENST00000376747.3 - 36 4280 c.4210G>T c.(4210-4212)Gga>Tga p.G1404* NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 1404 Glucosyltransferase. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 TCACCTGCTCCAATTCTCCTG 0.358000 28 118 8.4185e-14 1.14392e-13 0.012213 1 0 TNKS1BP1 85456 broad.mit.edu 37 11 57068420 57068420 + Silent SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:57068420G>A ENST00000532437.1 - 9 5378 c.5067C>T c.(5065-5067)tcC>tcT p.S1689S TNKS1BP1_ENST00000358252.3_Silent_p.S1689S Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1689 Arg/Glu/Lys-rich (charged). nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) GGACCTTGCAGGATTTCGAAC 0.612000 12 503 0 0 0.013537 0 0 ZNF75D 7626 broad.mit.edu 37 X 134421077 134421077 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:134421077G>A ENST00000370766.3 - 7 4234 c.1525C>T c.(1525-1527)Cca>Tca p.P509S ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.P414S NM_007131.3 NP_009062.2 P51815 ZN75D_HUMAN zinc finger protein 75D 509 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 CCTCAGTTTGGAGACACTAGA 0.403000 9 471 0 0 0.010729 0 0 EPHB6 2051 broad.mit.edu 37 7 142562270 142562270 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:142562270T>A ENST00000392957.2 + 7 1499 c.712T>A c.(712-714)Tcc>Acc p.S238T EPHB6_ENST00000442129.1_Missense_Mutation_p.S238T|EPHB6_ENST00000411471.2_Intron NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 238 Cys-rich. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CGTGCTCCGATCCTTTGCTTC 0.667000 7 110 0 0 0.016723 0 0 ANO2 57101 broad.mit.edu 37 12 6030514 6030514 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:6030514C>T ENST00000546188.1 - 3 285 c.214G>A c.(214-216)Gat>Aat p.D72N ANO2_ENST00000356134.5_Missense_Mutation_p.D72N|ANO2_ENST00000327087.8_Missense_Mutation_p.D72N Q9NQ90 ANO2_HUMAN anoctamin 2 76 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 TCATTGGCATCCAGATAGTTG 0.547000 10 147 0 0 0.013537 0 0 ZNF287 57336 broad.mit.edu 37 17 16456322 16456322 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:16456322C>T ENST00000395824.1 - 6 1751 c.1134G>A c.(1132-1134)agG>agA p.R378R ZNF287_ENST00000395825.3_Silent_p.R378R Q9HBT7 ZN287_HUMAN zinc finger protein 287 371 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) ATGGGTATTTCCTAAATTTTT 0.403000 9 343 0 0 0.006214 0 0 TSPYL1 7259 broad.mit.edu 37 6 116600644 116600644 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:116600644G>A ENST00000368608.3 - 1 422 c.350C>T c.(349-351)gCc>gTc p.A117V DSE_ENST00000540275.1_Intron NM_003309.3 NP_003300.1 Q9H0U9 TSYL1_HUMAN TSPY-like 1 117 nucleosome assembly nucleolus breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1) 11 all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234) all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094) GCTGCGGTCGGCTGCCATCAC 0.662000 3 37 0 0 0.004672 0 0 DNASE1 1773 broad.mit.edu 37 16 3706127 3706127 + Nonsense_Mutation SNP C C A rs140382618 TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr16:3706127C>A ENST00000246949.5 + 4 3470 c.261C>A c.(259-261)taC>taA p.Y87* DNASE1_ENST00000414110.2_Missense_Mutation_p.T8K|DNASE1_ENST00000407479.1_Nonsense_Mutation_p.Y87* NM_005223.3 NP_005214.2 P24855 DNAS1_HUMAN deoxyribonuclease I 87 apoptosis|DNA catabolic process extracellular region|nuclear envelope actin binding|deoxyribonuclease I activity lung(1) 1 Ovarian(90;0.0261) Kidney(780;0.0556) Dornase Alfa(DB00003) CCTATCACTACGTGGTCAGTG 0.592000 12 36 1.37522e-17 1.91651e-17 0.007413 1 0 MXRA5 25878 broad.mit.edu 37 X 3242302 3242302 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:3242302C>A ENST00000217939.6 - 5 1578 c.1424G>T c.(1423-1425)aGc>aTc p.S475I NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 475 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CATTACCCAGCTTCTGCCCCG 0.507000 5 253 0.000602214 0.000657304 0.014758 1 0 NRDE2 55051 broad.mit.edu 37 14 90783007 90783007 + Missense_Mutation SNP T T G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr14:90783007T>G ENST00000354366.3 - 3 554 c.322A>C c.(322-324)Agc>Cgc p.S108R NRDE2_ENST00000357904.3_Intron|NRDE2_ENST00000557106.1_5'UTR NM_017970.3 NP_060440.2 NRDE-2, necessary for RNA interference, domain containing TCAGACCTGCTGCTACTCGAC 0.433000 40 238 0 0 0.010771 0 0 GABRA4 2557 broad.mit.edu 37 4 46930674 46930674 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:46930674G>T ENST00000264318.3 - 9 2215 c.1233C>A c.(1231-1233)agC>agA p.S411R NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 411 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGGAAGATTTGCTTGAATGGT 0.418000 11 160 3.07112e-06 3.63443e-06 0.010729 1 0 MARCH4 57574 broad.mit.edu 37 2 217124304 217124304 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:217124304C>G ENST00000273067.4 - 4 2730 c.964G>C c.(964-966)Gac>Cac p.D322H NM_020814.2 NP_065865.1 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase 322 Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network ubiquitin-protein ligase activity|zinc ion binding breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) TCCTCCAGGTCTTTTGTCTTG 0.567000 3 56 0 0 0.004672 0 0 CELF1 10658 broad.mit.edu 37 11 47498401 47498401 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:47498401C>A ENST00000395290.2 - 9 1006 c.997G>T c.(997-999)Gca>Tca p.A333S CELF1_ENST00000532048.1_Missense_Mutation_p.A360S|CELF1_ENST00000531165.1_Missense_Mutation_p.A362S|CELF1_ENST00000361904.3_Missense_Mutation_p.A331S|CELF1_ENST00000395292.2_Missense_Mutation_p.A331S|CELF1_ENST00000358597.3_Missense_Mutation_p.A334S|CELF1_ENST00000310513.5_Missense_Mutation_p.A330S NM_001025596.2|NM_001172640.1 NP_001020767.1|NP_001166111.1 Q92879 CELF1_HUMAN CUGBP, Elav-like family member 1 334 embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference cytoplasm|nucleus|ribonucleoprotein complex BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2) 18 CCCTTACCTGCCAAAGAGCCA 0.537000 7 65 0.000157383 0.000175071 0.003080 1 0 DSE 29940 broad.mit.edu 37 6 116757364 116757364 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:116757364G>C ENST00000331677.3 + 7 2177 c.1733G>C c.(1732-1734)aGt>aCt p.S578T DSE_ENST00000537543.1_Missense_Mutation_p.S597T|DSE_ENST00000359564.2_Missense_Mutation_p.S578T|DSE_ENST00000452085.3_Missense_Mutation_p.S578T Q9UL01 DSE_HUMAN dermatan sulfate epimerase 578 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) GGAGAGGAGAGTCCCTTGGAG 0.493000 6 48 0 0 0.003080 0 0 INPP5D 3635 broad.mit.edu 37 2 234072513 234072513 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:234072513C>G ENST00000359570.5 + 14 1365 c.1365C>G c.(1363-1365)caC>caG p.H455Q INPP5D_ENST00000450745.1_Missense_Mutation_p.H219Q|INPP5D_ENST00000455936.2_Missense_Mutation_p.H219Q|INPP5D_ENST00000538935.1_Missense_Mutation_p.H454Q Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 467 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) TCCTCAAACACTCCCTGCAAG 0.562000 3 111 0 0 0.004672 0 0 ZBTB38 253461 broad.mit.edu 37 3 141162101 141162101 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:141162101G>A ENST00000514251.1 + 4 1150 c.871G>A c.(871-873)Gag>Aag p.E291K ZBTB38_ENST00000321464.5_Missense_Mutation_p.E292K|ZBTB38_ENST00000441582.2_Missense_Mutation_p.E291K Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 291 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 41 ATCCAACTTAGAGGTTAATCA 0.438000 19 285 0 0 0.027894 0 0 ANO5 203859 broad.mit.edu 37 11 22272495 22272495 + Splice_Site SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:22272495A>T ENST00000324559.8 + 12 1436 c.e12-1 NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TTATTTTTACAGTTCTCCCAT 0.303000 9 75 0 0 0.006214 0 0 DACH1 1602 broad.mit.edu 37 13 72063200 72063200 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr13:72063200G>A ENST00000305425.4 - 7 2079 c.1657C>T c.(1657-1659)Cca>Tca p.P553S DACH1_ENST00000354591.4_Missense_Mutation_p.P351S|DACH1_ENST00000359684.2_Missense_Mutation_p.P605S|DACH1_ENST00000313174.7_Missense_Mutation_p.P405S NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 603 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding 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) GGAAAACCTGGAGGCAGTGGT 0.463000 124 624 0 0 0.014410 0 0 WDR88 126248 broad.mit.edu 37 19 33628603 33628603 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:33628603T>A ENST00000361680.2 + 2 375 c.297T>A c.(295-297)agT>agA p.S99R WDR88_ENST00000355868.3_Missense_Mutation_p.S99R|WDR88_ENST00000592765.1_Missense_Mutation_p.S99R Q6ZMY6 WDR88_HUMAN WD repeat domain 88 99 breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 Esophageal squamous(110;0.137) AAATTCTGAGTGGGCACGAGC 0.453000 22 43 0 0 0.012319 0 0 OR4K15 81127 broad.mit.edu 37 14 20444038 20444038 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr14:20444038T>A ENST00000305051.5 + 1 436 c.361T>A c.(361-363)Tgc>Agc p.C121S NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) TTTTGATGCCTGCCTGGCCCA 0.433000 10 383 0 0 0.013537 0 0 NLRP11 204801 broad.mit.edu 37 19 56321474 56321474 + Silent SNP A A G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:56321474A>G ENST00000443188.1 - 5 1212 c.502T>C c.(502-504)Ttg>Ctg p.L168L NLRP11_ENST00000592953.1_Silent_p.L69L|NLRP11_ENST00000589824.2_Silent_p.L168L|NLRP11_ENST00000589093.1_Silent_p.L168L|NLRP11_ENST00000360133.3_Silent_p.L168L NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 168 NACHT. ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) ATCCACCTCAACACAGCCAGA 0.443000 7 58 0 0 0.004482 0 0 ZCCHC17 51538 broad.mit.edu 37 1 31810024 31810024 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:31810024C>G ENST00000373714.1 + 4 388 c.127C>G c.(127-129)Ctg>Gtg p.L43V ZCCHC17_ENST00000422613.2_Missense_Mutation_p.L19V|ZCCHC17_ENST00000344147.5_Missense_Mutation_p.L43V|ZCCHC17_ENST00000546109.1_Missense_Mutation_p.L35V|RP11-266K22.2_ENST00000430143.1_RNA|ZCCHC17_ENST00000479629.1_3'UTR Q9NP64 NO40_HUMAN zinc finger, CCHC domain containing 17 43 S1 motif. nucleolus RNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1) 6 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222) STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168) GTGCCCAGGTCTGGTCCATCG 0.448000 14 170 0 0 0.020292 0 0 TGFBI 7045 broad.mit.edu 37 5 135391445 135391445 + Missense_Mutation SNP G G T rs114295767 by1000genomes TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:135391445G>T ENST00000442011.2 + 11 1648 c.1487G>T c.(1486-1488)cGg>cTg p.R496L TGFBI_ENST00000305126.8_Missense_Mutation_p.R496L NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 496 FAS1 3. R -> G (in dbSNP:rs10057190). angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ACGATGGACCGGGTGCTGACC 0.582000 3 28 0.004672 0.0049325 0.004672 1 0 MPL 4352 broad.mit.edu 37 1 43804244 43804244 + Nonsense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:43804244C>T ENST00000372470.3 + 3 286 c.244C>T c.(244-246)Cag>Tag p.Q82* MPL_ENST00000413998.2_Nonsense_Mutation_p.Q82* NM_005373.2 NP_005364.1 P40238 TPOR_HUMAN myeloproliferative leukemia virus oncogene 82 cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 567 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CCTGAGTTCCCAGAGCATGCC 0.597000 Mis MPD MPD congenital amegakaryocytic thrombocytopenia 13 223 0 0 0.024245 0 0 CDH6 1004 broad.mit.edu 37 5 31317544 31317544 + Silent SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:31317544T>C ENST00000265071.2 + 10 1840 c.1575T>C c.(1573-1575)ttT>ttC p.F525F CDH6_ENST00000514738.1_Silent_p.F470F NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 525 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 AATTTTCGTTTTCCTTGGCCC 0.403000 10 263 0 0 0.006214 0 0 LRRC7 57554 broad.mit.edu 37 1 70257735 70257735 + Missense_Mutation SNP A A C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:70257735A>C ENST00000310961.5 + 5 632 c.214A>C c.(214-216)Aac>Cac p.N72H LRRC7_ENST00000035383.5_Missense_Mutation_p.N67H|LRRC7_ENST00000370958.1_Missense_Mutation_p.N105H|LRRC7_ENST00000415775.2_5'UTR Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 67 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 GCAATTGTTCAACTGTCAAGC 0.299000 4 143 0 0 0.014758 0 0 NLRP7 199713 broad.mit.edu 37 19 55452864 55452864 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:55452864C>T ENST00000446217.1 - 4 702 c.300G>A c.(298-300)gtG>gtA p.V100V NLRP7_ENST00000592784.1_Silent_p.V72V|NLRP7_ENST00000590030.1_Silent_p.V72V|NLRP7_ENST00000588756.1_Silent_p.V72V|NLRP7_ENST00000340844.2_Silent_p.V72V|NLRP7_ENST00000328092.5_Silent_p.V72V|NLRP7_ENST00000448121.2_Silent_p.V72V Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 72 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) CCAAGATGTTCACAGTCGCAT 0.448000 13 64 0 0 0.016723 0 0 DOCK2 1794 broad.mit.edu 37 5 169188529 169188529 + Silent SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:169188529C>G ENST00000256935.8 + 25 2534 c.2454C>G c.(2452-2454)ctC>ctG p.L818L DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.L310L NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 818 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCAGCCAACTCCTGTATGAGT 0.488000 9 506 0 0 0.008291 0 0 WNK4 65266 broad.mit.edu 37 17 40948532 40948532 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:40948532G>C ENST00000246914.5 + 18 3686 c.3665G>C c.(3664-3666)aGc>aCc p.1222_1222insT NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 0 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) AGTGGCAGCAGCACCGGCTCC 0.637000 6 31 0 0 0.013537 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74507414 74507414 + Nonsense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:74507414C>A ENST00000354431.4 - 7 1392 c.1201G>T c.(1201-1203)Gag>Tag p.E401* LRRIQ3_ENST00000395089.1_Nonsense_Mutation_p.E401* NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 401 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 ATACTCCGCTCCAATCGTATG 0.358000 28 261 1.77063e-15 2.42869e-15 0.027356 1 0 ICOS 29851 broad.mit.edu 37 2 204820546 204820546 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:204820546C>G ENST00000316386.6 + 2 313 c.246C>G c.(244-246)ttC>ttG p.F82L ICOS_ENST00000435193.1_Missense_Mutation_p.F82L NM_012092.3 NP_036224.1 Q9Y6W8 ICOS_HUMAN inducible T-cell co-stimulator 82 Ig-like V-type. immune response|T cell costimulation extracellular region breast(1)|large_intestine(1)|lung(4) 6 GTCTGAAATTCTGCCATTCTC 0.383000 16 235 0 0 0.028581 0 0 KMT2C 58508 broad.mit.edu 37 7 151850040 151850040 + Splice_Site SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:151850040C>G ENST00000355193.2 - 50 12666 c.e50-1 KMT2C_ENST00000262189.6_Splice_Site|KMT2C_ENST00000485241.1_Splice_Site lysine (K)-specific methyltransferase 2C TGCTAATGTTCTAAAACCAAA 0.423000 9 138 0 0 0.010729 0 0 BCCIP 56647 broad.mit.edu 37 10 127519173 127519173 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:127519173G>A ENST00000299130.3 + 4 376 c.364G>A c.(364-366)Gat>Aat p.D122N BCCIP_ENST00000278100.6_Missense_Mutation_p.D122N|BCCIP_ENST00000478798.1_3'UTR|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000368759.5_Missense_Mutation_p.D122N NM_078469.2 NP_510869.1 Q9P287 BCCIP_HUMAN BRCA2 and CDKN1A interacting protein 122 Interaction with BRCA2. cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity nuclear cyclin-dependent protein kinase holoenzyme complex kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1) 8 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) TATGGATGAAGATGAGGTTTT 0.299000 6 238 0 0 0.008291 0 0 MROH9 80133 broad.mit.edu 37 1 170959011 170959011 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:170959011G>A ENST00000367759.4 + 11 1049 c.895G>A c.(895-897)Gat>Aat p.D299N MROH9_ENST00000367758.3_Missense_Mutation_p.D299N NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 TAAGATCGTGGATGCTATTTA 0.403000 6 333 0 0 0.001984 0 0 GAB4 128954 broad.mit.edu 37 22 17469039 17469039 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr22:17469039G>T ENST00000400588.1 - 3 604 c.497C>A c.(496-498)tCc>tAc p.S166Y GAB4_ENST00000523144.1_Intron NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 166 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) ACTGGCTGAGGAAATGTTTCC 0.557000 10 73 3.07112e-06 3.63443e-06 0.010729 1 0 NXF4 55999 broad.mit.edu 37 X 101826397 101826397 + RNA SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:101826397G>T ENST00000360035.2 + 0 3391 NR_002216.1 endometrium(2)|lung(8) 10 CCCCTAAAAGGAGCCCTTCGA 0.512000 10 45 1.61879e-10 2.12344e-10 0.013537 1 0 SLC27A6 28965 broad.mit.edu 37 5 128365350 128365350 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:128365350G>T ENST00000262462.4 + 9 2643 c.1633G>T c.(1633-1635)Gtt>Ttt p.V545F SLC27A6_ENST00000395266.1_Missense_Mutation_p.V545F|SLC27A6_ENST00000506176.1_Missense_Mutation_p.V545F Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 545 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) TTATGAACAAGTTGTAACATT 0.303000 10 105 6.40141e-05 7.25049e-05 0.010729 1 0 GAD2 2572 broad.mit.edu 37 10 26559583 26559583 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:26559583C>T ENST00000376261.3 + 10 1493 c.990C>T c.(988-990)ttC>ttT p.F330F GAD2_ENST00000259271.3_Silent_p.F330F NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 330 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding p.F330L(1)|p.F330F(1) central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) TTGTTCCTTTCCTCGTGAGTG 0.463000 6 231 0 0 0.003080 0 0 AMPH 273 broad.mit.edu 37 7 38457456 38457456 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:38457456G>C ENST00000356264.2 - 17 1582 c.1367C>G c.(1366-1368)aCt>aGt p.T456S AMPH_ENST00000428293.2_Intron|AMPH_ENST00000325590.5_Intron|AMPH_ENST00000471913.1_Intron NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 456 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 CTCAGCCCGAGTGTCCATTCC 0.592000 9 129 0 0 0.024245 0 0 KLHL41 10324 broad.mit.edu 37 2 170367347 170367347 + Silent SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:170367347A>T ENST00000284669.1 + 1 1136 c.1059A>T c.(1057-1059)ctA>ctT p.L353L BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron NM_006063.2 NP_006054.2 kelch-like family member 41 TAGGAGGACTATATGTGGATG 0.403000 10 109 0 0 0.008291 0 0 FLG2 388698 broad.mit.edu 37 1 152328575 152328575 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:152328575C>G ENST00000388718.5 - 3 1759 c.1687G>C c.(1687-1689)Gag>Cag p.E563Q FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 563 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCAGATGTCTCTCTAGACCCA 0.498000 36 509 0 0 0.019004 0 0 ESX1 80712 broad.mit.edu 37 X 103495005 103495005 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:103495005C>T ENST00000372588.4 - 4 1208 c.1125G>A c.(1123-1125)ctG>ctA p.L375L NM_153448.3 NP_703149.1 Q8N693 ESX1_HUMAN ESX homeobox 1 375 15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x. negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 ACCTGGGTGGCAGAGGCGCCA 0.657000 8 41 0 0 0.004482 0 0 SI 6476 broad.mit.edu 37 3 164785153 164785153 + Missense_Mutation SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:164785153T>C ENST00000264382.3 - 6 672 c.610A>G c.(610-612)Att>Gtt p.I204V NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 204 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CTTTTCCTAATAACTTGGATG 0.308000 HNSCC(35;0.089) 13 87 0 0 0.020292 0 0 CDK18 5129 broad.mit.edu 37 1 205498165 205498165 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:205498165G>A ENST00000360066.2 + 11 1314 c.1013G>A c.(1012-1014)aGg>aAg p.R338K CDK18_ENST00000429964.2_Missense_Mutation_p.R338K|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Missense_Mutation_p.R368K NM_002596.3|NM_212502.2|NM_212503.2 NP_002587.2|NP_997667.1|NP_997668.1 Q07002 CDK18_HUMAN cyclin-dependent kinase 18 336 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 GCCACAGGGAGGCCCCTCTTC 0.682000 OREG0014157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 10 0 0 0.024245 0 0 CUBN 8029 broad.mit.edu 37 10 16957929 16957929 + Silent SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:16957929G>C ENST00000377833.4 - 46 7166 c.7101C>G c.(7099-7101)ctC>ctG p.L2367L NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 2367 CUB 17. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGAGCCCCTGGAGATGCCACT 0.463000 5 245 0 0 0.014758 0 0 FSHR 2492 broad.mit.edu 37 2 49190825 49190825 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:49190825C>A ENST00000406846.2 - 10 1254 c.1135G>T c.(1135-1137)Ggg>Tgg p.G379W FSHR_ENST00000346173.3_Missense_Mutation_p.G317W|FSHR_ENST00000304421.4_Missense_Mutation_p.G353W|FSHR_ENST00000541117.1_Missense_Mutation_p.G115W NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 379 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) ATGATGTTCCCAGTGATGGCC 0.478000 Gonadal Dysgenesis, 46 XX 6 157 0.00116845 0.00125644 0.021553 1 0 SLC26A11 284129 broad.mit.edu 37 17 78225181 78225181 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:78225181C>T ENST00000361193.3 + 17 1990 c.1710C>T c.(1708-1710)ttC>ttT p.F570F SLC26A11_ENST00000411502.3_Silent_p.F570F|SLC26A11_ENST00000546047.2_Silent_p.F570F|SLC26A11_ENST00000572725.1_Silent_p.F570F NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 570 STAS. endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) TCCAGTACTTCTCTACCCTGG 0.488000 11 65 0 0 0.008291 0 0 GALNTL6 442117 broad.mit.edu 37 4 173232803 173232803 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:173232803G>A ENST00000506823.1 + 4 943 c.286G>A c.(286-288)Gag>Aag p.E96K GALNTL6_ENST00000457021.1_3'UTR|GALNTL6_ENST00000508122.1_Missense_Mutation_p.E79K NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 96 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 CCTTACTGAAGAGGACCATGA 0.388000 56 328 0 0 0.014410 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 3 55 0 0 0.014758 0 0 DYNC2LI1 51626 broad.mit.edu 37 2 44031851 44031851 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:44031851A>T ENST00000260605.8 + 11 973 c.873A>T c.(871-873)aaA>aaT p.K291N DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.K292N|DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.K165N NM_001193464.1|NM_016008.3 NP_001180393.1|NP_057092.2 Q8TCX1 DC2L1_HUMAN dynein, cytoplasmic 2, light intermediate chain 1 291 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1) 26 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TGTGGAAAAAAGTGTATGAAA 0.363000 4 158 0 0 0.009096 0 0 CENPE 1062 broad.mit.edu 37 4 104068758 104068758 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:104068758C>T ENST00000265148.3 - 29 3978 c.3889G>A c.(3889-3891)Gaa>Aaa p.E1297K CENPE_ENST00000380026.3_Missense_Mutation_p.E1272K NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 1297 E -> K (in Ref. 1; CAA78727). blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TCACTGACTTCTTTCACATTA 0.378000 5 144 0 0 0.014758 0 0 KIAA0430 9665 broad.mit.edu 37 16 15695991 15695991 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr16:15695991G>A ENST00000396368.3 - 23 4689 c.4483C>T c.(4483-4485)Cgg>Tgg p.R1495W KIAA0430_ENST00000551742.1_Missense_Mutation_p.R1495W|KIAA0430_ENST00000547936.1_5'UTR|KIAA0430_ENST00000548025.1_Missense_Mutation_p.R1492W|KIAA0430_ENST00000344181.3_Missense_Mutation_p.R1178W|KIAA0430_ENST00000540441.2_Missense_Mutation_p.R1330W|KIAA0430_ENST00000602337.1_Missense_Mutation_p.R1492W NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 1494 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 AGTAAAGACCGCACATTCTTT 0.393000 5 358 0 0 0.021553 0 0 WWP2 11060 broad.mit.edu 37 16 69970320 69970320 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr16:69970320C>T ENST00000359154.2 + 19 2183 c.2082C>T c.(2080-2082)atC>atT p.I694I WWP2_ENST00000356003.2_Silent_p.I694I|WWP2_ENST00000568684.1_Silent_p.I255I|WWP2_ENST00000542271.1_Silent_p.I578I|WWP2_ENST00000448661.1_Silent_p.I694I|WWP2_ENST00000544162.1_3'UTR NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 694 HECT. entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GCGAGAGCATCCGGGTCACAG 0.587000 3 27 0 0 0.009096 0 0 PKHD1 5314 broad.mit.edu 37 6 51720830 51720830 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:51720830G>C ENST00000371117.3 - 49 8047 c.7772C>G c.(7771-7773)aCt>aGt p.T2591S PKHD1_ENST00000340994.4_Missense_Mutation_p.T2591S NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 2591 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TCTGCTGTCAGTCATGGTTAA 0.388000 4 161 0 0 0.009096 0 0 PA2G4 5036 broad.mit.edu 37 12 56500854 56500854 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:56500854C>T ENST00000303305.6 + 3 717 c.298C>T c.(298-300)Ctc>Ttc p.L100F RP11-603J24.9_ENST00000548861.1_Missense_Mutation_p.L81F|PA2G4_ENST00000552766.1_Missense_Mutation_p.L100F|RP11-603J24.17_ENST00000548595.1_RNA NM_006191.2 NP_006182.2 Q9UQ80 PA2G4_HUMAN proliferation-associated 2G4, 38kDa 100 cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing cytoplasm|nucleolus|ribonucleoprotein complex DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(18;0.0739) GGATTATATTCTCAAGGAAGG 0.358000 7 118 0 0 0.003080 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616309 77616309 + Translation_Start_Site SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr8:77616309C>A ENST00000521891.2 + 0 434 ZFHX4_ENST00000050961.6_De_novo_Start_OutOfFrame|ZFHX4_ENST00000455469.2_De_novo_Start_OutOfFrame|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_De_novo_Start_OutOfFrame NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ATGAGATCCCCATGTAGCAAT 0.433000 HNSCC(33;0.089) 4 46 0.00909568 0.00951061 0.009096 1 0 STARD5 80765 broad.mit.edu 37 15 81605634 81605634 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr15:81605634G>A ENST00000302824.6 - 6 630 c.605C>T c.(604-606)gCc>gTc p.A202V NM_181900.2 NP_871629.1 Q9NSY2 STAR5_HUMAN StAR-related lipid transfer (START) domain containing 5 202 START. C21-steroid hormone biosynthetic process|lipid transport cytosol lipid binding large_intestine(3)|ovary(1)|skin(1)|stomach(1) 6 CTGAAGGTTGGCATAAAACCG 0.517000 4 173 0 0 0.009096 0 0 TIAM1 7074 broad.mit.edu 37 21 32499455 32499455 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr21:32499455G>C ENST00000286827.3 - 27 4532 c.4061C>G c.(4060-4062)gCc>gGc p.A1354G TIAM1_ENST00000541036.1_Missense_Mutation_p.A1294G NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1354 PH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 TTCACACACGGCATTTGCCTC 0.438000 8 92 0 0 0.010729 0 0 PTPDC1 138639 broad.mit.edu 37 9 96827099 96827099 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr9:96827099G>A ENST00000375360.3 + 2 418 c.78G>A c.(76-78)atG>atA p.M26I NM_001253830.1|NM_177995.2 NP_001240759.1|NP_818931.1 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 26 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 32 TTGCAAACATGAAAGGTAATG 0.378000 15 129 0 0 0.004990 0 0 DARC 2532 broad.mit.edu 37 1 159175475 159175475 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:159175475G>T ENST00000537147.1 + 3 1089 c.246G>T c.(244-246)atG>atT p.M82I DARC_ENST00000368122.2_Missense_Mutation_p.M82I|DARC_ENST00000368121.2_Missense_Mutation_p.M84I Q16570 DUFFY_HUMAN Duffy blood group, atypical chemokine receptor 82 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) TCCTCTTCATGCTTTTCAGAC 0.597000 50 254 2.69953e-25 3.89933e-25 0.014410 1 0 GIMAP8 155038 broad.mit.edu 37 7 150174822 150174822 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:150174822C>T ENST00000307271.3 + 5 2526 c.1952C>T c.(1951-1953)tCc>tTc p.S651F NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 651 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) CAGGAAATGTCCCAAGCCGAA 0.428000 40 176 0 0 0.014410 0 0 USH2A 7399 broad.mit.edu 37 1 216243585 216243585 + Nonsense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:216243585G>C ENST00000366943.2 - 30 6293 c.5907C>G c.(5905-5907)taC>taG p.Y1969* USH2A_ENST00000307340.3_Nonsense_Mutation_p.Y1969* O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1969 Fibronectin type-III 6. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CCTCAATGCTGTATCCATTTA 0.473000 HNSCC(13;0.011) 5 255 0 0 0.014758 0 0 TRHDE 29953 broad.mit.edu 37 12 73050723 73050723 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:73050723T>A ENST00000261180.4 + 18 2962 c.2866T>A c.(2866-2868)Ttt>Att p.F956I NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 956 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 AGAAGCATTGTTTATGAATTC 0.274000 7 194 0 0 0.008291 0 0 C1orf112 55732 broad.mit.edu 37 1 169801585 169801585 + Nonsense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:169801585C>T ENST00000286031.6 + 16 2177 c.1477C>T c.(1477-1479)Caa>Taa p.Q493* C1orf112_ENST00000359326.4_Nonsense_Mutation_p.Q493*|C1orf112_ENST00000498289.1_3'UTR NM_018186.2 NP_060656.2 Q9NSG2 CA112_HUMAN chromosome 1 open reading frame 112 493 breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1) 34 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGAATGTTATCAACTCATCAA 0.398000 5 176 0 0 0.001984 0 0 CCAR1 55749 broad.mit.edu 37 10 70507003 70507003 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:70507003G>A ENST00000265872.6 + 7 723 c.604G>A c.(604-606)Gca>Aca p.A202T CCAR1_ENST00000543719.1_Missense_Mutation_p.A187T|CCAR1_ENST00000535016.1_Missense_Mutation_p.A187T NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 202 apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 TAAATGGAATGCACAGAGAAT 0.333000 4 53 0 0 0.009096 0 0 ZNF347 84671 broad.mit.edu 37 19 53644975 53644975 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:53644975C>G ENST00000452676.2 - 5 1535 c.1109G>C c.(1108-1110)gGa>gCa p.G370A ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.G370A|ZNF347_ENST00000334197.7_Missense_Mutation_p.G369A NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) AGGTTTCTCTCCAGTATGAAT 0.413000 6 174 0 0 0.021553 0 0 GRM8 2918 broad.mit.edu 37 7 126173734 126173734 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:126173734C>G ENST00000339582.2 - 9 2510 c.1702G>C c.(1702-1704)Ggc>Cgc p.G568R GRM8_ENST00000358373.3_Missense_Mutation_p.G568R|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.G568R O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 568 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) AGCTGGCAGCCTGTGCGGTTC 0.522000 HNSCC(24;0.065) 34 131 0 0 0.015359 0 0 TUBGCP3 10426 broad.mit.edu 37 13 113174306 113174306 + Nonsense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr13:113174306A>T ENST00000261965.3 - 15 1961 c.1775T>A c.(1774-1776)tTg>tAg p.L592* TUBGCP3_ENST00000375669.3_Nonsense_Mutation_p.L592* NM_006322.4 NP_006313.1 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 592 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1) 25 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) ATGCTGATACAAAGTCGTAGC 0.393000 4 127 0 0 0.009096 0 0 RGS1 5996 broad.mit.edu 37 1 192548398 192548398 + Silent SNP A A G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:192548398A>G ENST00000367459.3 + 5 642 c.576A>G c.(574-576)aaA>aaG p.K192K NM_002922.3 NP_002913.3 Q08116 RGS1_HUMAN regulator of G-protein signaling 1 192 RGS. immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity kidney(8)|large_intestine(1)|lung(13) 22 Breast(1374;0.188) GGTTCCTCAAATCAGATATTT 0.403000 12 216 0 0 0.013537 0 0 GPR151 134391 broad.mit.edu 37 5 145895451 145895451 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:145895451G>T ENST00000311104.2 - 1 302 c.226C>A c.(226-228)Ctg>Atg p.L76M NM_194251.2 NP_919227.2 Q8TDV0 GP151_HUMAN G protein-coupled receptor 151 76 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2) 14 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCAGAATCAGGGAGTGGATC 0.527000 8 55 0.000157383 0.000175071 0.003080 1 0 USP13 8975 broad.mit.edu 37 3 179439297 179439297 + Silent SNP G G T rs115755648 byFrequency TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:179439297G>T ENST00000263966.3 + 8 1479 c.1008G>T c.(1006-1008)acG>acT p.T336T USP13_ENST00000496897.1_Silent_p.T271T|USP13_ENST00000482333.1_3'UTR NM_003940.2 NP_003931.2 Q92995 UBP13_HUMAN ubiquitin specific peptidase 13 (isopeptidase T-3) 336 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 46 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) CTGGCTACACGGGTCTGAAGA 0.537000 3 48 6.4e-05 7.25049e-05 0.004672 1 0 STK39 27347 broad.mit.edu 37 2 168994715 168994715 + Missense_Mutation SNP A A G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:168994715A>G ENST00000355999.4 - 8 1562 c.857T>C c.(856-858)tTg>tCg p.L286S NM_013233.2 NP_037365.2 Q9UEW8 STK39_HUMAN serine threonine kinase 39 286 Protein kinase. response to stress cytoplasm|nucleus ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2) 13 ATCATTTTGCAAAGTCAACAT 0.348000 4 129 0 0 0.014758 0 0 ZNF155 7711 broad.mit.edu 37 19 44496052 44496052 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:44496052G>A ENST00000270014.2 + 4 329 c.201G>A c.(199-201)atG>atA p.M67I ZNF155_ENST00000407951.2_Missense_Mutation_p.M78I|ZNF155_ENST00000590615.1_Missense_Mutation_p.M67I NM_001260487.1|NM_198089.2 NP_001247416.1|NP_932355.2 Q12901 ZN155_HUMAN zinc finger protein 155 67 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 15 Prostate(69;0.0352) AGTTTTGGATGATGGGGACAG 0.478000 13 268 0 0 0.020292 0 0 CA10 56934 broad.mit.edu 37 17 50008443 50008443 + Silent SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:50008443C>A ENST00000451037.2 - 3 1126 c.186G>T c.(184-186)gtG>gtT p.V62V CA10_ENST00000285273.4_Silent_p.V62V|CA10_ENST00000570565.1_5'UTR|CA10_ENST00000442502.2_Silent_p.V62V|CA10_ENST00000340813.6_Silent_p.V68V NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 62 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) GCCGTTTCCCCACAGAGCAAA 0.483000 6 290 0.00116845 0.00125644 0.021553 1 0 IGSF5 150084 broad.mit.edu 37 21 41142968 41142968 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr21:41142968G>A ENST00000380588.4 + 4 647 c.544G>A c.(544-546)Gtc>Atc p.V182I IGSF5_ENST00000479378.1_3'UTR NM_001080444.1 NP_001073913.1 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily, member 5 182 Ig-like V-type 2. integral to membrane|tight junction breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1) 23 Prostate(19;5.35e-06) CGGTCTCCTGGTCAGCCATTC 0.512000 20 106 0 0 0.014323 0 0 ST7 7982 broad.mit.edu 37 7 116759737 116759737 + Missense_Mutation SNP T T G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:116759737T>G ENST00000265437.5 + 3 571 c.357T>G c.(355-357)agT>agG p.S119R ST7_ENST00000393449.1_Missense_Mutation_p.S119R|ST7_ENST00000393446.2_Missense_Mutation_p.S119R|ST7-AS2_ENST00000432541.1_RNA|ST7-AS2_ENST00000434993.1_RNA|ST7_ENST00000465133.1_Missense_Mutation_p.S76R|ST7_ENST00000422922.1_Missense_Mutation_p.S73R|ST7-AS2_ENST00000442719.1_RNA|ST7_ENST00000393443.1_Missense_Mutation_p.S69R|ST7_ENST00000432298.1_Missense_Mutation_p.S73R|ST7_ENST00000393444.3_Missense_Mutation_p.S76R|ST7_ENST00000393451.3_Missense_Mutation_p.S119R|ST7_ENST00000393447.4_Missense_Mutation_p.S76R|ST7_ENST00000487459.1_3'UTR|ST7_ENST00000323984.3_Missense_Mutation_p.S119R NM_021908.2 NP_068708.1 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 119 integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1) 21 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CTAATTCCAGTAACGGGGACT 0.398000 18 154 0 0 0.008871 0 0 TMEM132D 121256 broad.mit.edu 37 12 129559150 129559150 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:129559150G>T ENST00000422113.2 - 9 2896 c.2570C>A c.(2569-2571)aCa>aAa p.T857K TMEM132D_ENST00000389441.4_Missense_Mutation_p.T395K NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 857 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GGACCTGTCTGTCGTGGTGCC 0.557000 8 86 5.18039e-06 6.06468e-06 0.003080 1 0 C5orf42 65250 broad.mit.edu 37 5 37198949 37198949 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:37198949A>T ENST00000274258.7 - 20 3757 c.170T>A c.(169-171)cTt>cAt p.L57H C5orf42_ENST00000425232.2_Missense_Mutation_p.L1176H|C5orf42_ENST00000508244.1_Missense_Mutation_p.L1176H E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 1176 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) AGCTTTTAAAAGAAGATCATC 0.368000 7 47 0 0 0.001984 0 0 CACHD1 57685 broad.mit.edu 37 1 65117912 65117912 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:65117912G>A ENST00000371073.2 + 10 1459 c.1459G>A c.(1459-1461)Gtg>Atg p.V487M CACHD1_ENST00000290039.5_Missense_Mutation_p.V436M|CACHD1_ENST00000495994.1_3'UTR Q5VU97 CAHD1_HUMAN cache domain containing 1 487 Cache 1. calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 AGGTGTGGACGTGAATCTGGC 0.368000 7 115 0 0 0.001984 0 0 LHCGR 3973 broad.mit.edu 37 2 48915591 48915591 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:48915591C>G ENST00000294954.7 - 11 1366 c.1345G>C c.(1345-1347)Gca>Cca p.A449P LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.A422P|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.A387P|STON1-GTF2A1L_ENST00000402114.2_Intron NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 449 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) AGTTCACTTGCGAATACAGTG 0.488000 4 210 0 0 0.009096 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35909843 35909843 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:35909843C>T ENST00000325722.3 - 17 2809 c.2575G>A c.(2575-2577)Gtg>Atg p.V859M KIAA0319L_ENST00000373266.4_Missense_Mutation_p.V296M|KIAA0319L_ENST00000485551.1_5'UTR NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 859 cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ATCGCTGCCACCTCATGGCCT 0.463000 14 116 0 0 0.016723 0 0 ATP2A2 488 broad.mit.edu 37 12 110764236 110764236 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:110764236G>A ENST00000395494.2 + 6 1068 c.505G>A c.(505-507)Gac>Aac p.D169N ATP2A2_ENST00000308664.6_Missense_Mutation_p.D196N|ATP2A2_ENST00000539276.2_Missense_Mutation_p.D196N P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 196 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 TCCCGTCCCTGACCCACGAGC 0.413000 3 42 0 0 0.009096 0 0 SLC25A52 147407 broad.mit.edu 37 18 29340105 29340105 + Nonsense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr18:29340105G>A ENST00000269205.5 - 1 738 c.550C>T c.(550-552)Cga>Tga p.R184* SLC25A52_ENST00000579441.2_Nonsense_Mutation_p.R174* NM_001034172.2 NP_001029344.3 Q3SY17 MCAR2_HUMAN solute carrier family 25, member 52 174 transport integral to membrane|mitochondrial inner membrane ACCAAGCCTCGATAATACTCT 0.448000 30 150 0 0 0.013726 0 0 TRIM5 85363 broad.mit.edu 37 11 5699520 5699520 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:5699520C>G ENST00000305836.5 - 4 960 c.658G>C c.(658-660)Gag>Cag p.E220Q TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000380034.3_Missense_Mutation_p.E220Q|TRIM5_ENST00000380027.1_Missense_Mutation_p.E220Q|TRIM5_ENST00000396853.4_Missense_Mutation_p.E220Q|TRIM5_ENST00000396855.3_Missense_Mutation_p.E220Q|TRIM5_ENST00000396847.3_Missense_Mutation_p.E220Q Q9C035 TRIM5_HUMAN tripartite motif containing 5 220 interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) TGCACCATCTCAGTTTCAGAG 0.517000 13 127 0 0 0.016723 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18195254 18195254 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:18195254C>A ENST00000314254.3 + 1 871 c.451C>A c.(451-453)Ctg>Atg p.L151M RP11-113D6.6_ENST00000527671.1_Intron NM_054032.3 NP_473373.2 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 151 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 GGGCCTGTCCCTGCTGTTTAG 0.582000 19 214 7.92952e-12 1.06092e-11 0.021523 1 0 HAS2 3037 broad.mit.edu 37 8 122629425 122629425 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr8:122629425G>C ENST00000303924.4 - 3 1186 c.649C>G c.(649-651)Ctt>Gtt p.L217V NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 217 integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) GCTGGGTCAAGCATAGTGTCT 0.393000 15 79 0 0 0.004990 0 0 OR2T8 343172 broad.mit.edu 37 1 248084403 248084403 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:248084403G>T ENST00000319968.4 + 1 84 c.84G>T c.(82-84)atG>atT p.M28I NM_001005522.1 NP_001005522.1 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, member 8 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TCTTCATGATGGTTCTGAGTA 0.468000 47 267 9.72345e-25 1.40217e-24 0.014410 1 0 SIM2 6493 broad.mit.edu 37 21 38095399 38095399 + Missense_Mutation SNP A A G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr21:38095399A>G ENST00000290399.6 + 5 1124 c.511A>G c.(511-513)Agg>Ggg p.R171G SIM2_ENST00000430056.3_Missense_Mutation_p.R171G NM_005069.3 NP_005060.1 Q14190 SIM2_HUMAN single-minded family bHLH transcription factor 2 171 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2) 16 CTTGGCGAAAAGGAACGCGGG 0.537000 7 106 0 0 0.001984 0 0 TAMM41 132001 broad.mit.edu 37 3 11832011 11832011 + Missense_Mutation SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:11832011T>C ENST00000273037.5 - 7 1201 c.919A>G c.(919-921)Atg>Gtg p.M307V TAMM41_ENST00000455809.1_Missense_Mutation_p.M328V NM_138807.2 NP_620162.1 Q96BW9 MMP37_HUMAN TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae) 307 protein import into mitochondrial matrix extrinsic to mitochondrial inner membrane CCTTTCCACATTTTGTGCAGT 0.368000 9 266 0 0 0.008291 0 0 ZNF417 147687 broad.mit.edu 37 19 58420019 58420019 + Missense_Mutation SNP T T G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:58420019T>G ENST00000312026.5 - 3 1791 c.1627A>C c.(1627-1629)Act>Cct p.T543P CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.T542P|ZNF417_ENST00000536263.1_Missense_Mutation_p.T344P NM_152475.2 NP_689688.2 Q8TAU3 ZN417_HUMAN zinc finger protein 417 543 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1) 18 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151) CTTTCTCCAGTGTGAATTCTC 0.403000 33 194 0 0 0.015359 0 0 ARMC3 219681 broad.mit.edu 37 10 23319719 23319719 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:23319719T>A ENST00000298032.5 + 17 2324 c.2240T>A c.(2239-2241)cTg>cAg p.L747Q ARMC3_ENST00000409983.3_Missense_Mutation_p.L740Q|ARMC3_ENST00000376528.4_Missense_Mutation_p.L484Q NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 747 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 ATTGAGGATCTGGCAAAGTAA 0.328000 7 146 0 0 0.001984 0 0 OR52R1 119695 broad.mit.edu 37 11 4824764 4824764 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:4824764A>T ENST00000380382.1 - 1 1083 c.1084T>A c.(1084-1086)Tat>Aat p.Y362N MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.Y283N Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) ATCAGTAGATAGAGATTAGCA 0.468000 6 378 0 0 0.003080 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209190983 209190983 + Nonsense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:209190983A>T ENST00000264380.4 + 20 3606 c.3448A>T c.(3448-3450)Aga>Tga p.R1150* NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 1150 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 GAGCTTGGGTAGAATGCTGGC 0.468000 13 71 0 0 0.016723 0 0 FAM117B 150864 broad.mit.edu 37 2 203620382 203620382 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:203620382G>T ENST00000303116.6 + 5 1092 c.350G>T c.(349-351)gGg>gTg p.G117V FAM117B_ENST00000392238.2_Missense_Mutation_p.G361V NM_173511.3 NP_775782.2 Q6P1L5 F117B_HUMAN family with sequence similarity 117, member B 361 breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1) 17 AAAGAGACTGGGGAAAAGGAA 0.348000 20 127 1.00905e-13 1.36897e-13 0.008871 1 0 PPIP5K2 23262 broad.mit.edu 37 5 102522093 102522093 + Missense_Mutation SNP A A C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:102522093A>C ENST00000321521.9 + 27 3815 c.3242A>C c.(3241-3243)tAt>tCt p.Y1081S PPIP5K2_ENST00000358359.3_Missense_Mutation_p.Y1081S|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.Y1081S|PPIP5K2_ENST00000513500.1_3'UTR O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 1081 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 CTACAGGATTATGCTCGTACT 0.498000 17 129 0 0 0.007413 0 0 MUC16 94025 broad.mit.edu 37 19 9063745 9063745 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:9063745C>T ENST00000397910.4 - 3 23904 c.23701G>A c.(23701-23703)Gca>Aca p.A7901T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7903 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 GTTATTTCTGCTGATTCTGTC 0.493000 6 309 0 0 0.003080 0 0 GPX6 257202 broad.mit.edu 37 6 28472273 28472273 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:28472273G>T ENST00000361902.1 - 5 511 c.462C>A c.(460-462)aaC>aaA p.N154K GPX6_ENST00000474923.1_Missense_Mutation_p.T121N NM_182701.1 NP_874360.1 P59796 GPX6_HUMAN glutathione peroxidase 6 (olfactory) 154 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) GAGGGCAGGAGTTCTGGAGCA 0.428000 17 55 3.99206e-14 5.44144e-14 0.007413 1 0 FLNB 2317 broad.mit.edu 37 3 58109141 58109141 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:58109141G>A ENST00000357272.4 + 21 3613 c.3448G>A c.(3448-3450)Gaa>Aaa p.E1150K FLNB_ENST00000419752.2_Missense_Mutation_p.E981K|FLNB_ENST00000493452.1_Missense_Mutation_p.E981K|FLNB_ENST00000490882.1_Missense_Mutation_p.E1150K|FLNB_ENST00000358537.3_Missense_Mutation_p.E1150K|FLNB_ENST00000348383.5_Missense_Mutation_p.E1150K|FLNB_ENST00000295956.4_Missense_Mutation_p.E1150K|FLNB_ENST00000429972.2_Missense_Mutation_p.E1150K O75369 FLNB_HUMAN filamin B, beta 1150 Interaction with FBLP1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GAAGGTGGGTGAAGCTGGCCT 0.597000 14 114 0 0 0.013537 0 0 MDH2 4191 broad.mit.edu 37 7 75684173 75684173 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:75684173G>T ENST00000315758.5 + 2 186 c.92G>T c.(91-93)gGg>gTg p.G31V MDH2_ENST00000490105.1_3'UTR|MDH2_ENST00000443006.1_Intron|MDH2_ENST00000432020.2_Missense_Mutation_p.G31V NM_005918.2 NP_005909.2 P40926 MDHM_HUMAN malate dehydrogenase 2, NAD (mitochondrial) 31 gluconeogenesis|malate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus|plasma membrane binding|L-malate dehydrogenase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2) 14 NADH(DB00157) GCTGTGCTAGGGGCCTCTGGA 0.502000 17 78 1.01871e-10 1.34236e-10 0.008871 1 0 ARID5B 84159 broad.mit.edu 37 10 63852413 63852413 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:63852413G>C ENST00000279873.7 + 10 3601 c.3191G>C c.(3190-3192)gGc>gCc p.G1064A ARID5B_ENST00000309334.5_Missense_Mutation_p.G821A NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 1064 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) CATTCCGGGGGCGGATCAGAA 0.612000 9 112 0 0 0.013537 0 0 CLEC4D 338339 broad.mit.edu 37 12 8670788 8670788 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:8670788G>C ENST00000299665.2 + 3 343 c.150G>C c.(148-150)aaG>aaC p.K50N NM_080387.4 NP_525126.2 Q8WXI8 CLC4D_HUMAN C-type lectin domain family 4, member D 50 innate immune response integral to membrane sugar binding large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Lung SC(5;0.184) CACGCTGTAAGAGAGGCACAG 0.398000 7 30 0 0 0.006214 0 0 UBR2 23304 broad.mit.edu 37 6 42633948 42633948 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:42633948G>T ENST00000372899.1 + 34 4104 c.3846G>T c.(3844-3846)caG>caT p.Q1282H UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.Q1282H NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 1282 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) ATGAATTACAGCTCCCTGAAG 0.318000 23 204 1.39806e-14 1.90863e-14 0.008361 1 0 C1orf112 55732 broad.mit.edu 37 1 169801565 169801565 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:169801565C>T ENST00000286031.6 + 16 2157 c.1457C>T c.(1456-1458)tCa>tTa p.S486L C1orf112_ENST00000359326.4_Missense_Mutation_p.S486L|C1orf112_ENST00000498289.1_3'UTR NM_018186.2 NP_060656.2 Q9NSG2 CA112_HUMAN chromosome 1 open reading frame 112 486 breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1) 34 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CAGATAAAGTCATGCCCTGGA 0.383000 6 157 0 0 0.021553 0 0 CFH 3075 broad.mit.edu 37 1 196695668 196695668 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:196695668G>C ENST00000367429.4 + 13 2182 c.1942G>C c.(1942-1944)Gaa>Caa p.E648Q NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 648 Sushi 11. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 AACGAAAGAAGAATATGGACA 0.353000 11 267 0 0 0.013537 0 0 TJP1 7082 broad.mit.edu 37 15 30053914 30053914 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr15:30053914C>A ENST00000346128.6 - 7 1226 c.752G>T c.(751-753)aGg>aTg p.R251M TJP1_ENST00000495972.2_Missense_Mutation_p.R251M|TJP1_ENST00000356107.6_Missense_Mutation_p.R251M|TJP1_ENST00000545208.2_Missense_Mutation_p.R251M|TJP1_ENST00000400011.2_Missense_Mutation_p.R255M NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 251 PDZ 2. cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) GCCTTTAGACCTTTCTATCAA 0.353000 8 44 1.12685e-05 1.30517e-05 0.004482 1 0 PRDM1 639 broad.mit.edu 37 6 106554849 106554849 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:106554849G>A ENST00000369096.4 + 7 2200 c.1966G>A c.(1966-1968)Gag>Aag p.E656K PRDM1_ENST00000369091.2_Missense_Mutation_p.E620K|PRDM1_ENST00000369089.3_Missense_Mutation_p.E522K NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 656 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) CCATTCTGGAGAGAAACCATA 0.557000 """D, N, Mis, F, S""" DLBCL 7 120 0 0 0.004482 0 0 PCDH17 27253 broad.mit.edu 37 13 58240938 58240938 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr13:58240938C>T ENST00000377918.3 + 3 2794 c.2768C>T c.(2767-2769)aCt>aTt p.T923I NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 923 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) ATGAAAACTACTTCAACTAAA 0.438000 6 122 0 0 0.001984 0 0 RSPO4 343637 broad.mit.edu 37 20 948755 948755 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr20:948755T>A ENST00000217260.4 - 2 202 c.106A>T c.(106-108)Aca>Tca p.T36S RSPO4_ENST00000400634.2_Missense_Mutation_p.T36S NM_001029871.3 NP_001025042.2 Q2I0M5 RSPO4_HUMAN R-spondin 4 36 Wnt receptor signaling pathway extracellular region heparin binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 ATACAGCCTGTGCAGTTGCCC 0.597000 3 91 0 0 0.004672 0 0 PDZRN4 29951 broad.mit.edu 37 12 41900492 41900492 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:41900492T>A ENST00000298919.7 + 4 686 c.298T>A c.(298-300)Tgt>Agt p.C100S PDZRN4_ENST00000402685.2_Missense_Mutation_p.C360S|PDZRN4_ENST00000539469.2_Missense_Mutation_p.C102S Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 360 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) GCCAGACATCTGTCCATTCCT 0.473000 5 154 0 0 0.001984 0 0 CLCA2 9635 broad.mit.edu 37 1 86905931 86905931 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:86905931G>T ENST00000370565.4 + 8 1466 c.1304G>T c.(1303-1305)aGc>aTc p.S435I NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 435 VWFA. cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) ACTGTGCTCAGCAGTGGTTCA 0.418000 39 351 2.87052e-16 3.96861e-16 0.023175 1 0 ZNF337 26152 broad.mit.edu 37 20 25655806 25655806 + Missense_Mutation SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr20:25655806T>C ENST00000376436.1 - 4 2657 c.2118A>G c.(2116-2118)atA>atG p.I706M ZNF337_ENST00000538750.1_Missense_Mutation_p.I674M|ZNF337_ENST00000252979.5_Missense_Mutation_p.I706M|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CTCCTGTGTGTATTCTTTCAT 0.453000 49 477 0 0 0.014410 0 0 FIGF 2277 broad.mit.edu 37 X 15364265 15364265 + Missense_Mutation SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:15364265T>C ENST00000297904.3 - 7 1484 c.1055A>G c.(1054-1056)aAg>aGg p.K352R FIGF_ENST00000488351.1_5'UTR NM_004469.4 NP_004460.1 O43915 VEGFD_HUMAN c-fos induced growth factor (vascular endothelial growth factor D) 352 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) TCAAGGATTCTTTCGGCTGTG 0.488000 8 310 0 0 0.004482 0 0 LAIR2 3904 broad.mit.edu 37 19 55019214 55019214 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:55019214T>A ENST00000301202.2 + 3 301 c.179T>A c.(178-180)cTg>cAg p.L60Q LAIR2_ENST00000351841.2_Missense_Mutation_p.L60Q NM_002288.4 NP_002279.2 Q6ISS4 LAIR2_HUMAN leukocyte-associated immunoglobulin-like receptor 2 60 Ig-like C2-type. extracellular region receptor activity central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1) 18 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0967) ACATTCCGCCTGGAGAGGGAG 0.537000 13 73 0 0 0.016723 0 0 OR2B6 26212 broad.mit.edu 37 6 27925169 27925169 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:27925169C>A ENST00000244623.1 + 1 151 c.151C>A c.(151-153)Ctg>Atg p.L51M NM_012367.1 NP_036499.1 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, member 6 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AGTGTCACGCCTGGACACCAA 0.428000 16 291 2.94398e-08 3.68421e-08 0.007413 1 0 INADL 10207 broad.mit.edu 37 1 62241001 62241001 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:62241001G>T ENST00000371158.2 + 7 958 c.844G>T c.(844-846)Gat>Tat p.D282Y INADL_ENST00000316485.6_Missense_Mutation_p.D282Y NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 282 PDZ 2. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 AGGATTAGCAGATCGAGTAAG 0.358000 23 360 1.64293e-13 2.22204e-13 0.018920 1 0 FAM131B 9715 broad.mit.edu 37 7 143054475 143054475 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:143054475C>T ENST00000409408.1 - 5 2132 c.424G>A c.(424-426)Gcc>Acc p.A142T FAM131B_ENST00000409578.1_Missense_Mutation_p.A158T|FAM131B_ENST00000409222.3_Missense_Mutation_p.A142T|FAM131B_ENST00000409346.1_Missense_Mutation_p.A142T|FAM131B_ENST00000443739.2_Missense_Mutation_p.A170T Q86XD5 F131B_HUMAN family with sequence similarity 131, member B 142 breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) GAAGACCAGGCCATGAGTGTG 0.517000 5 65 0 0 0.014758 0 0 KMT2A 4297 broad.mit.edu 37 11 118376154 118376154 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:118376154C>A ENST00000534358.1 + 27 9570 c.9547C>A c.(9547-9549)Cct>Act p.P3183T KMT2A_ENST00000389506.5_Missense_Mutation_p.P3180T|KMT2A_ENST00000354520.4_Missense_Mutation_p.P3142T NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A CATCAGCAATCCTCCTTCAGG 0.512000 42 207 4.18559e-23 5.96669e-23 0.014410 1 0 HIST1H2BB 3018 broad.mit.edu 37 6 26043589 26043589 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:26043589C>T ENST00000357905.2 - 1 296 c.297G>A c.(295-297)gtG>gtA p.V99V NM_021062.2 NP_066406.1 P33778 H2B1B_HUMAN histone cluster 1, H2bb 99 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 GCAGCAGGCGCACAGCCGTCT 0.562000 6 43 0 0 0.004482 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140712241 140712241 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:140712241G>T ENST00000517417.1 + 1 1990 c.1990G>T c.(1990-1992)Gtg>Ttg p.V664L PCDHGA1_ENST00000378105.3_Missense_Mutation_p.V664L NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACCGTGGCCGTGGCCGACAG 0.682000 8 33 1.12685e-05 1.30517e-05 0.004482 1 0 DPP6 1804 broad.mit.edu 37 7 154561257 154561257 + Silent SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:154561257C>A ENST00000404039.1 + 9 1409 c.822C>A c.(820-822)acC>acA p.T274T DPP6_ENST00000332007.3_Silent_p.T276T|DPP6_ENST00000427557.1_Silent_p.T231T|DPP6_ENST00000377770.3_Silent_p.T338T NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 338 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity p.T274T(1)|p.T276T(1)|p.T338T(1) NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TCTACCCCACCGTGAAGCCCT 0.552000 3 14 0.004672 0.0049325 0.004672 1 0 INADL 10207 broad.mit.edu 37 1 62545190 62545190 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:62545190A>T ENST00000371158.2 + 32 4308 c.4194A>T c.(4192-4194)ttA>ttT p.L1398F INADL_ENST00000316485.6_Missense_Mutation_p.L1398F|INADL_ENST00000545929.1_Missense_Mutation_p.L71F|INADL_ENST00000543708.1_Missense_Mutation_p.L182F NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 1398 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 AGATACCATTAGCACCAGCTT 0.398000 7 131 0 0 0.001984 0 0 RGS9 8787 broad.mit.edu 37 17 63204048 63204048 + Nonsense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:63204048T>A ENST00000449996.3 + 16 1275 c.1203T>A c.(1201-1203)taT>taA p.Y401* RGS9_ENST00000262406.9_Nonsense_Mutation_p.Y404*|RGS9_ENST00000443584.3_Nonsense_Mutation_p.Y401* NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 404 RGS. intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 AGGATTCTTATGCTCGCTATT 0.398000 22 83 0 0 0.018920 0 0 SLC13A1 6561 broad.mit.edu 37 7 122768942 122768942 + Silent SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:122768942G>T ENST00000194130.2 - 10 1129 c.1090C>A c.(1090-1092)Cga>Aga p.R364R SLC13A1_ENST00000539873.1_3'UTR NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 364 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) CCGGGGTCTCGACTAAACCAT 0.418000 32 128 4.46736e-08 5.5746e-08 0.023175 1 0 NLGN4X 57502 broad.mit.edu 37 X 5827266 5827266 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:5827266C>A ENST00000381095.3 - 4 1267 c.640G>T c.(640-642)Ggt>Tgt p.G214C NLGN4X_ENST00000381092.1_Missense_Mutation_p.G214C|NLGN4X_ENST00000538097.1_Missense_Mutation_p.G214C|NLGN4X_ENST00000275857.6_Missense_Mutation_p.G214C|NLGN4X_ENST00000381093.2_Missense_Mutation_p.G234C NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 214 G -> S (in a colorectal cancer sample; somatic mutation). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity p.G214S(1) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 GCCTGGTCACCGGTACTTAAA 0.458000 8 126 0.000978159 0.00106231 0.010729 1 0 LPPR4 9890 broad.mit.edu 37 1 99772455 99772455 + Silent SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:99772455C>A ENST00000370185.3 + 7 2678 c.2181C>A c.(2179-2181)acC>acA p.T727T LPPR4_ENST00000457765.1_Silent_p.T669T|LPPR4_ENST00000370184.1_Silent_p.T569T NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 727 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) GCGACTCCACCCTGCGGAGAA 0.522000 8 98 0.00307968 0.00328323 0.003080 1 0 CNKSR2 22866 broad.mit.edu 37 X 21545047 21545047 + Silent SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:21545047C>A ENST00000425654.2 + 10 1500 c.1020C>A c.(1018-1020)ccC>ccA p.P340P CNKSR2_ENST00000379510.3_Silent_p.P340P|CNKSR2_ENST00000543067.1_Silent_p.P291P|CNKSR2_ENST00000279451.4_Silent_p.P340P NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 340 DUF1170. regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 TCAGTACACCCACCAAAAGAG 0.468000 119 762 2.68169e-52 3.94553e-52 0.014410 1 0 OR51I1 390063 broad.mit.edu 37 11 5461952 5461952 + Missense_Mutation SNP G G A rs145392841 by1000genomes TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:5461952G>A ENST00000380211.1 - 1 792 c.793C>T c.(793-795)Cgc>Tgc p.R265C AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron NM_001005288.2 NP_001005288.1 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, member 1 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R265C(1) central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTCCAGAAGCGGTGAATCATG 0.483000 6 190 0 0 0.004482 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576519 158576519 + Silent SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:158576519T>C ENST00000361284.1 + 1 291 c.291T>C c.(289-291)tgT>tgC p.C97C NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) ATGTGGGCTGTGCTGCCCAGA 0.552000 40 643 0 0 0.009718 0 0 IFI44L 10964 broad.mit.edu 37 1 79093737 79093737 + Missense_Mutation SNP G G T rs149202070 byFrequency TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:79093737G>T ENST00000370751.4 + 2 316 c.137G>T c.(136-138)cGt>cTt p.R46L IFI44L_ENST00000476521.1_Intron|IFI44L_ENST00000342282.3_Intron NM_006820.2 NP_006811.2 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 46 cytoplasm p.R7H(1) endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 22 AGATGCAGCCGTCAGGGATGT 0.363000 10 133 0.00621372 0.00654431 0.006214 1 0 TRIM16 10626 broad.mit.edu 37 17 15531966 15531966 + Missense_Mutation SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:15531966T>C ENST00000578237.1 - 11 2513 c.1658A>G c.(1657-1659)gAg>gGg p.E553G TRIM16_ENST00000577886.1_Missense_Mutation_p.E337G|TRIM16_ENST00000416464.2_Missense_Mutation_p.E423G|TRIM16_ENST00000336708.7_Missense_Mutation_p.E553G|TRIM16_ENST00000579219.1_3'UTR|RP11-385D13.1_ENST00000455584.2_Intron tripartite motif containing 16 breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1) 19 UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559) TGCTGGCTTCTCGGGTTCCTC 0.517000 3 41 0 0 0.009096 0 0 PRDM16 63976 broad.mit.edu 37 1 3328562 3328562 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:3328562G>T ENST00000378398.3 + 10 1886 c.1804G>T c.(1804-1806)Ggc>Tgc p.G602C PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.G601C|PRDM16_ENST00000441472.2_Missense_Mutation_p.G601C|PRDM16_ENST00000270722.5_Missense_Mutation_p.G601C|PRDM16_ENST00000514189.1_Missense_Mutation_p.G602C|PRDM16_ENST00000511072.1_Missense_Mutation_p.G602C|PRDM16_ENST00000378391.2_Missense_Mutation_p.G601C Q9HAZ2 PRD16_HUMAN PR domain containing 16 601 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) CATGTCGGACGGCAGTGACTT 0.662000 T EVI1 """MDS, AML""" 5 91 0.000602214 0.000657304 0.014758 1 0 ZFHX4 79776 broad.mit.edu 37 8 77618301 77618301 + Nonsense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr8:77618301G>T ENST00000521891.2 + 2 2426 c.1978G>T c.(1978-1980)Gag>Tag p.E660* ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.E660*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.E660*|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.E660* NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 660 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCAGACCCTGGAGGCCCATAT 0.502000 HNSCC(33;0.089) 7 100 5.68852e-11 7.54141e-11 0.004482 1 0 CEP250 11190 broad.mit.edu 37 20 34061702 34061702 + Nonsense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr20:34061702G>T ENST00000397527.1 + 14 2116 c.1396G>T c.(1396-1398)Gag>Tag p.E466* CEP250_ENST00000342580.4_Nonsense_Mutation_p.E466* NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 466 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) CAGGGAGCGAGAGCTGCTGCA 0.562000 5 59 5.9392e-07 7.21484e-07 0.021553 1 0 RP11-909M7.3 0 broad.mit.edu 37 14 101435347 101435347 + RNA SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr14:101435347C>A ENST00000554693.2 + 0 212 SNORD114-12_ENST00000365400.1_RNA GTGTCTGGAACTCTGAGGTCC 0.358000 20 98 1.37657e-19 1.92763e-19 0.012319 1 0 CST1 1469 broad.mit.edu 37 20 23731400 23731400 + Missense_Mutation SNP T T G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr20:23731400T>G ENST00000304749.2 - 1 174 c.104A>C c.(103-105)tAt>tCt p.Y35S CST1_ENST00000398402.1_Missense_Mutation_p.Y35S NM_001898.2 NP_001889.2 P01037 CYTN_HUMAN cystatin SN 35 extracellular region cysteine-type endopeptidase inhibitor activity kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1) 13 Lung NSC(19;0.0676)|all_lung(19;0.148) GTCTGCGTTATAGATGCCACC 0.572000 5 85 0 0 0.014758 0 0 OR10G8 219869 broad.mit.edu 37 11 123900935 123900935 + Silent SNP T T G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:123900935T>G ENST00000431524.1 + 1 639 c.606T>G c.(604-606)gtT>gtG p.V202V NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TTGTGACTGTTGGAATAGTGG 0.537000 20 227 0 0 0.016522 0 0 ACTC1 70 broad.mit.edu 37 15 35086895 35086895 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr15:35086895G>A ENST00000290378.4 - 2 770 c.115C>T c.(115-117)Cgc>Tgc p.R39C RP11-814P5.1_ENST00000503496.1_RNA NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 39 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) TGCCGCGGGCGGCCCACGATG 0.677000 4 23 0 0 0.009096 0 0 GIMAP4 55303 broad.mit.edu 37 7 150270130 150270130 + Silent SNP T T G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:150270130T>G ENST00000255945.2 + 3 1147 c.972T>G c.(970-972)cgT>cgG p.R324R GIMAP4_ENST00000461940.1_Silent_p.R338R NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 324 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTTTGTTACGTCTGTTCGCGG 0.398000 51 206 0 0 0.014410 0 0 TMEM209 84928 broad.mit.edu 37 7 129813780 129813780 + Splice_Site SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:129813780C>T ENST00000397622.2 - 12 1467 c.e12-1 TMEM209_ENST00000473456.1_Splice_Site|TMEM209_ENST00000336804.8_Splice_Site|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000462753.1_Splice_Site NM_032842.3 NP_116231.2 Q96SK2 TM209_HUMAN transmembrane protein 209 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 12 Melanoma(18;0.0435) GCATGATGATCTGAGGATGAA 0.348000 12 200 0 0 0.016723 0 0 GPRASP2 114928 broad.mit.edu 37 X 101970465 101970465 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:101970465G>T ENST00000543253.1 + 5 1587 c.668G>T c.(667-669)gGg>gTg p.G223V GPRASP2_ENST00000535209.1_Missense_Mutation_p.G223V|GPRASP2_ENST00000332262.5_Missense_Mutation_p.G223V NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 AATGAGTCTGGGTTCTGGTCA 0.542000 46 282 3.21987e-24 4.62028e-24 0.014410 1 0 RPL27A 6157 broad.mit.edu 37 11 8706410 8706410 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:8706410G>T ENST00000314138.6 + 4 692 c.289G>T c.(289-291)Gct>Tct p.A97S RPL27A_ENST00000530913.1_Missense_Mutation_p.A40S|RPL27A_ENST00000524496.1_Missense_Mutation_p.A40S|RPL27A_ENST00000530022.1_Missense_Mutation_p.A40S|RPL27A_ENST00000532359.1_Missense_Mutation_p.A62S|RPL27A_ENST00000531978.1_Missense_Mutation_p.A97S|RPL27A_ENST00000526562.1_Missense_Mutation_p.A40S NM_000990.4 NP_000981.1 P46776 RL27A_HUMAN ribosomal protein L27a 97 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome haematopoietic_and_lymphoid_tissue(1)|lung(1) 2 Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CAAGACTGGGGCTGCTCCCAT 0.443000 7 168 0.00198382 0.00212535 0.001984 1 0 ZNF287 57336 broad.mit.edu 37 17 16456093 16456093 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:16456093C>T ENST00000395824.1 - 6 1980 c.1363G>A c.(1363-1365)Gat>Aat p.D455N ZNF287_ENST00000395825.3_Missense_Mutation_p.D455N Q9HBT7 ZN287_HUMAN zinc finger protein 287 448 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) CCACAGTCATCACACTTATAG 0.433000 5 235 0 0 0.014758 0 0 MAP7D2 256714 broad.mit.edu 37 X 20030537 20030537 + Silent SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:20030537G>A ENST00000379651.3 - 14 1897 c.1879C>T c.(1879-1881)Ctg>Ttg p.L627L MAP7D2_ENST00000452324.3_Silent_p.L575L|MAP7D2_ENST00000443379.3_Silent_p.L582L|MAP7D2_ENST00000543767.1_Silent_p.L512L|MAP7D2_ENST00000379643.5_Silent_p.L668L NM_152780.3 NP_689993.2 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 627 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 AGGGCATCCAGATGAATGAGT 0.448000 35 451 0 0 0.019004 0 0 OCRL 4952 broad.mit.edu 37 X 128723862 128723862 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:128723862G>A ENST00000371113.4 + 23 2675 c.2510G>A c.(2509-2511)cGt>cAt p.R837H OCRL_ENST00000357121.5_Missense_Mutation_p.R829H NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe 837 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 AATGTTTTCCGTTACTTGATG 0.433000 6 257 0 0 0.021553 0 0 DNAH5 1767 broad.mit.edu 37 5 13776554 13776554 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:13776554C>G ENST00000265104.4 - 55 9471 c.9367G>C c.(9367-9369)Gtt>Ctt p.V3123L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3123 AAA 4 (By similarity). 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) TAACCAGCAACTAAAGCATCT 0.468000 Kartagener syndrome 42 741 0 0 0.014410 0 0 EMC7 56851 broad.mit.edu 37 15 34382622 34382622 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr15:34382622C>G ENST00000256545.4 - 3 499 c.391G>C c.(391-393)Gtt>Ctt p.V131L NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 AGTCTGACAACCTCTGATGTT 0.393000 19 104 0 0 0.007413 0 0 ATF6B 1388 broad.mit.edu 37 6 32089085 32089085 + Silent SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:32089085G>T ENST00000375201.4 - 6 555 c.510C>A c.(508-510)tcC>tcA p.S170S ATF6B_ENST00000375203.3_Silent_p.S173S Q99941 ATF6B_HUMAN activating transcription factor 6 beta 173 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 CAGAGTTGACGGAAGAACATG 0.532000 28 85 1.55811e-20 2.19954e-20 0.008361 1 0 LRRC30 339291 broad.mit.edu 37 18 7231728 7231728 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr18:7231728C>T ENST00000383467.2 + 1 606 c.592C>T c.(592-594)Ctg>Ttg p.L198L NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 198 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 CTCGAATCGCCTGGAAAACAT 0.542000 17 62 0 0 0.008871 0 0 KIAA1377 57562 broad.mit.edu 37 11 101833557 101833557 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:101833557G>T ENST00000263468.8 + 6 2061 c.1791G>T c.(1789-1791)caG>caT p.Q597H KIAA1377_ENST00000537689.1_Missense_Mutation_p.Q398H NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 597 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) TTATAAATCAGAGCTTTAAGT 0.294000 23 116 5.35356e-11 7.10815e-11 0.016522 1 0 MYO16 23026 broad.mit.edu 37 13 109817277 109817277 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr13:109817277C>G ENST00000356711.2 + 33 5253 c.5127C>G c.(5125-5127)agC>agG p.S1709R MYO16_ENST00000357550.2_Missense_Mutation_p.S1709R|MYO16-AS1_ENST00000439299.1_RNA NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 1709 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) ACATAAGTAGCCGAGATGACC 0.299000 4 40 0 0 0.009096 0 0 NAV3 89795 broad.mit.edu 37 12 78401054 78401054 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:78401054G>T ENST00000397909.2 + 8 1909 c.1736G>T c.(1735-1737)tGt>tTt p.C579F NAV3_ENST00000536525.2_Missense_Mutation_p.C579F|NAV3_ENST00000266692.7_Missense_Mutation_p.C579F|NAV3_ENST00000228327.6_Missense_Mutation_p.C579F Q8IVL0 NAV3_HUMAN neuron navigator 3 579 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 GCTTCTAGTTGTCCTGCCCCT 0.507000 HNSCC(70;0.22) 40 156 4.44401e-20 6.25321e-20 0.010771 1 0 AQR 9716 broad.mit.edu 37 15 35196688 35196688 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr15:35196688T>A ENST00000156471.5 - 19 2075 c.1850A>T c.(1849-1851)aAt>aTt p.N617I NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 617 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) TCCTCTAAGATTGGGTCTGGG 0.313000 14 146 0 0 0.024245 0 0 PPP6R2 9701 broad.mit.edu 37 22 50878211 50878211 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr22:50878211G>C ENST00000359139.3 + 19 2526 c.2132G>C c.(2131-2133)aGt>aCt p.S711T PPP6R2_ENST00000216061.5_Missense_Mutation_p.S737T|PPP6R2_ENST00000395741.3_Missense_Mutation_p.S711T|PPP6R2_ENST00000395744.3_Missense_Mutation_p.S710T NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 737 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 GTGGGTTCCAGTGTGTGGGCA 0.607000 4 22 0 0 0.009096 0 0 OLFM4 10562 broad.mit.edu 37 13 53603113 53603113 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr13:53603113T>A ENST00000219022.2 + 1 220 c.142T>A c.(142-144)Tcc>Acc p.S48T NM_006418.4 NP_006409.3 Q6UX06 OLFM4_HUMAN olfactomedin 4 48 Ser-rich. cell adhesion extracellular space breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1) 39 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) cagcttcagctccagctccag 0.607000 15 120 0 0 0.004990 0 0 SYNE1 23345 broad.mit.edu 37 6 152552538 152552538 + Silent SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:152552538T>A ENST00000367255.5 - 114 21628 c.21027A>T c.(21025-21027)ctA>ctT p.L7009L SYNE1_ENST00000341594.5_Silent_p.L6621L|SYNE1_ENST00000265368.4_Silent_p.L7009L|SYNE1_ENST00000356820.4_Silent_p.L1533L|SYNE1_ENST00000423061.1_Silent_p.L6938L|SYNE1_ENST00000448038.1_Silent_p.L6938L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7009 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) TCTCAGTTACTAGACCTTGCA 0.438000 HNSCC(10;0.0054) 23 169 0 0 0.024334 0 0 C1orf100 200159 broad.mit.edu 37 1 244528036 244528036 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:244528036C>T ENST00000308105.4 + 2 147 c.34C>T c.(34-36)Cgt>Tgt p.R12C C1orf100_ENST00000366537.1_Missense_Mutation_p.R12C NM_001012970.1 NP_001012988.1 Q5SVJ3 CA100_HUMAN chromosome 1 open reading frame 100 12 endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1) 7 all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103) all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984) ATTTATTGAGCGTCGCCCAGT 0.468000 7 142 0 0 0.008291 0 0 NCCRP1 342897 broad.mit.edu 37 19 39689847 39689847 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:39689847G>A ENST00000339852.4 + 4 512 c.490G>A c.(490-492)Gag>Aag p.E164K NM_001001414.1 NP_001001414.1 Q6ZVX7 NCRP1_HUMAN non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) 164 FBA. protein catabolic process p.E164Q(1) kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 10 CCTTCTGGCCGAGGGCCTGTG 0.642000 4 57 0 0 0.009096 0 0 RAD50 10111 broad.mit.edu 37 5 131939049 131939049 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:131939049G>C ENST00000378823.3 + 14 2666 c.1848G>C c.(1846-1848)caG>caC p.Q616H RAD50_ENST00000265335.6_Missense_Mutation_p.Q755H NM_005732.3 NP_005723.2 Q92878 RAD50_HUMAN RAD50 homolog (S. cerevisiae) 755 K -> E (in dbSNP:rs1047380). DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ACAAACTGCAGAATGTCAATA 0.343000 Homologous recombination 11 121 0 0 0.008291 0 0 SYNPO2 171024 broad.mit.edu 37 4 119978565 119978565 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:119978565C>A ENST00000307142.4 + 5 3458 c.3262C>A c.(3262-3264)Cgc>Agc p.R1088S SYNPO2_ENST00000448416.2_Silent_p.G89G NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 718 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GGAGAGTGGGCGCTCCCTTTC 0.413000 41 122 2.64514e-33 3.87212e-33 0.014410 1 0 FGL2 10875 broad.mit.edu 37 7 76826126 76826126 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:76826126A>T ENST00000248598.5 - 2 822 c.790T>A c.(790-792)Ttc>Atc p.F264I RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron NM_006682.2 NP_006673.1 Q14314 FGL2_HUMAN fibrinogen-like 2 264 Fibrinogen C-terminal. signal transduction fibrinogen complex receptor binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 13 GTTCTGGTGAAGTTGGTGCTC 0.483000 44 180 0 0 0.014410 0 0 GNPAT 8443 broad.mit.edu 37 1 231396349 231396349 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:231396349C>T ENST00000366647.4 + 3 527 c.358C>T c.(358-360)Cgg>Tgg p.R120W GNPAT_ENST00000366646.3_Missense_Mutation_p.R59W NM_014236.3 NP_055051.1 O15228 GNPAT_HUMAN glyceronephosphate O-acyltransferase 120 ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis peroxisomal matrix|peroxisomal membrane glycerone-phosphate O-acyltransferase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 23 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) TGGAGCCATTCGGTTTTGTGC 0.393000 10 529 0 0 0.013537 0 0 NDUFA8 4702 broad.mit.edu 37 9 124910417 124910417 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr9:124910417G>A ENST00000537618.1 - 3 464 c.355C>T c.(355-357)Cgg>Tgg p.R119W NDUFA8_ENST00000373768.3_Missense_Mutation_p.R119W P51970 NDUA8_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa 119 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity p.R119W(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 NADH(DB00157) AGGTCAGGCCGCACCCAGCCC 0.512000 5 309 0 0 0.021553 0 0 CTPS2 56474 broad.mit.edu 37 X 16707658 16707658 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:16707658C>A ENST00000443824.1 - 8 1530 c.787G>T c.(787-789)Gtg>Ttg p.V263L CTPS2_ENST00000359276.4_Missense_Mutation_p.V263L|CTPS2_ENST00000380241.3_Missense_Mutation_p.V263L NM_001144002.1 NP_001137474.1 Q9NRF8 PYRG2_HUMAN CTP synthase 2 263 glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process cytosol ATP binding|CTP synthase activity breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Hepatocellular(33;0.0997) AAATATTTCACAATGCTTTGT 0.398000 6 216 5.9392e-07 7.21484e-07 0.021553 1 0 SCN7A 6332 broad.mit.edu 37 2 167262131 167262131 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:167262131C>G ENST00000409855.1 - 25 5134 c.5008G>C c.(5008-5010)Gac>Cac p.D1670H NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 1670 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 TTAGCTTTGTCAAAATAGGCA 0.343000 55 427 0 0 0.014410 0 0 HCN1 348980 broad.mit.edu 37 5 45396599 45396599 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:45396599C>G ENST00000303230.4 - 4 1282 c.1225G>C c.(1225-1227)Gag>Cag p.E409Q NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 409 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 ATTACCTTCTCTTGATACTGC 0.443000 3 69 0 0 0.009096 0 0 FANCA 2175 broad.mit.edu 37 16 89818612 89818612 + Silent SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr16:89818612G>A ENST00000389301.3 - 31 3030 c.3000C>T c.(2998-3000)caC>caT p.H1000H FANCA_ENST00000568369.1_Silent_p.H1000H NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 1000 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) AATTTTCTGAGTGGTCATAAC 0.448000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 16 235 0 0 0.006122 0 0 DCDC1 341019 broad.mit.edu 37 11 30953464 30953464 + Silent SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:30953464C>G ENST00000597505.1 - 20 2750 c.2751G>C c.(2749-2751)ccG>ccC p.P917P DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_5'UTR|DCDC1_ENST00000437348.1_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 270 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) GAGGACTGCTCGGAACAAGCA 0.393000 4 81 0 0 0.021553 0 0 GOLGA7B 401647 broad.mit.edu 37 10 99619326 99619326 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:99619326G>C ENST00000370602.1 + 2 189 c.124G>C c.(124-126)Gag>Cag p.E42Q NM_001010917.2 NP_001010917.1 Q2TAP0 GOG7B_HUMAN golgin A7 family, member B 42 Golgi membrane endometrium(1)|large_intestine(3)|prostate(1) 5 ATTCCCCCCAGAGCTGGACAG 0.522000 5 54 0 0 0.014758 0 0 EPHA6 285220 broad.mit.edu 37 3 97467522 97467522 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:97467522C>A ENST00000389672.5 + 18 3408 c.3370C>A c.(3370-3372)Cag>Aag p.Q1124K NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 1029 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 GATGCACATACAGGAGAAGGG 0.398000 4 62 0.00909568 0.00951061 0.009096 1 0 NGB 58157 broad.mit.edu 37 14 77734877 77734877 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr14:77734877G>T ENST00000298352.4 - 3 627 c.253C>A c.(253-255)Ctg>Atg p.L85M NM_021257.3 NP_067080.1 Q9NPG2 NGB_HUMAN neuroglobin 85 Globin. hemoglobin complex heme binding|oxygen binding|oxygen transporter activity endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 8 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0273) TACTCCTCCAGTGAGGACAGG 0.587000 22 121 8.10497e-08 1.00419e-07 0.010504 1 0 RGS21 431704 broad.mit.edu 37 1 192316479 192316479 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:192316479G>T ENST00000417209.2 + 3 222 c.48G>T c.(46-48)atG>atT p.M16I NM_001039152.3 NP_001034241.1 Q2M5E4 RGS21_HUMAN regulator of G-protein signaling 21 16 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 15 CGGAAACAATGACATGGTCTG 0.303000 31 133 1.60099e-16 2.21694e-16 0.021022 1 0 SORCS1 114815 broad.mit.edu 37 10 108923814 108923814 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:108923814C>G ENST00000263054.6 - 1 478 c.471G>C c.(469-471)gaG>gaC p.E157D SORCS1_ENST00000344440.6_Missense_Mutation_p.E157D NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 157 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TCAGTCTCAGCTCCTCCATCC 0.637000 8 105 0 0 0.003080 0 0 MAP3K4 4216 broad.mit.edu 37 6 161470037 161470037 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:161470037G>A ENST00000392142.4 + 3 881 c.733G>A c.(733-735)Gag>Aag p.E245K MAP3K4_ENST00000348824.7_Missense_Mutation_p.E245K|MAP3K4_ENST00000366920.2_Missense_Mutation_p.E245K|MAP3K4_ENST00000366919.2_Missense_Mutation_p.E245K NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 245 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) AAAAGACAGGGAGCAAAGAGG 0.423000 10 69 0 0 0.008291 0 0 ZNF660 285349 broad.mit.edu 37 3 44636579 44636579 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:44636579G>C ENST00000322734.2 + 3 1227 c.894G>C c.(892-894)aaG>aaC p.K298N RP11-944L7.4_ENST00000457331.1_RNA NM_173658.2 NP_775929.2 Q6AZW8 ZN660_HUMAN zinc finger protein 660 298 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) CCCACACTAAGGAGAAACCCT 0.403000 10 87 0 0 0.008291 0 0 CKAP5 9793 broad.mit.edu 37 11 46830991 46830991 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:46830991C>G ENST00000529230.1 - 7 869 c.823G>C c.(823-825)Gaa>Caa p.E275Q CKAP5_ENST00000415402.1_Missense_Mutation_p.E275Q|CKAP5_ENST00000312055.5_Missense_Mutation_p.E275Q|CKAP5_ENST00000354558.3_Missense_Mutation_p.E275Q Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 275 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 GAAAGGATTTCTACAGCTTCT 0.303000 3 157 0 0 0.004672 0 0 DCDC1 341019 broad.mit.edu 37 11 30938442 30938442 + Missense_Mutation SNP T T G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:30938442T>G ENST00000597505.1 - 24 3426 c.3427A>C c.(3427-3429)Aat>Cat p.N1143H DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.N222H P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) GGTTCCACATTTTCAAAGAGC 0.413000 7 62 0 0 0.003080 0 0 NSD1 64324 broad.mit.edu 37 5 176721339 176721339 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:176721339G>A ENST00000439151.2 + 23 7015 c.6970G>A c.(6970-6972)Gga>Aga p.G2324R NSD1_ENST00000361032.4_Missense_Mutation_p.G2221R|NSD1_ENST00000347982.4_Missense_Mutation_p.G2055R|NSD1_ENST00000354179.4_Missense_Mutation_p.G2055R NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 2324 Pro-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) AGCAGTGGCAGGACCAAGACC 0.597000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 12 50 0 0 0.028581 0 0 FAM47A 158724 broad.mit.edu 37 X 34148121 34148121 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:34148121C>A ENST00000346193.3 - 1 2326 c.2275G>T c.(2275-2277)Gcc>Tcc p.A759S NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 759 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 CCCCTCCTGGCAAACAGCCTT 0.408000 15 344 3.52763e-06 4.15212e-06 0.004990 1 0 APC 324 broad.mit.edu 37 5 112179485 112179485 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:112179485G>T ENST00000457016.1 + 16 8574 c.8194G>T c.(8194-8196)Gac>Tac p.D2732Y CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.D2732Y|APC_ENST00000257430.4_Missense_Mutation_p.D2732Y P25054 APC_HUMAN adenomatous polyposis coli 2732 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GGATGCCCCTGACCAAAAAGG 0.433000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 8 126 0.000157383 0.000175071 0.003080 1 0 SKAP2 8935 broad.mit.edu 37 7 26778484 26778484 + Silent SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:26778484C>A ENST00000345317.2 - 6 712 c.399G>T c.(397-399)ctG>ctT p.L133L SKAP2_ENST00000489977.1_5'UTR|SKAP2_ENST00000539623.1_5'UTR NM_003930.3 NP_003921.2 O75563 SKAP2_HUMAN src kinase associated phosphoprotein 2 133 PH. B cell activation|cell junction assembly|protein complex assembly|signal transduction cytosol|plasma membrane SH3/SH2 adaptor activity haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3) 17 ATTCAAATCCCAGAAAGCTGT 0.348000 5 239 0.000602214 0.000657304 0.014758 1 0 FOSB 2354 broad.mit.edu 37 19 45976089 45976089 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:45976089C>T ENST00000353609.3 + 4 1428 c.836C>T c.(835-837)tCt>tTt p.S279F ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000592811.1_Intron|FOSB_ENST00000443841.2_Missense_Mutation_p.S136F|FOSB_ENST00000592436.1_Intron|FOSB_ENST00000585836.1_Missense_Mutation_p.S204F|FOSB_ENST00000591858.1_Missense_Mutation_p.S240F|FOSB_ENST00000417353.2_Missense_Mutation_p.S243F|FOSB_ENST00000586615.1_Missense_Mutation_p.S230F NM_006732.2 NP_006723.2 P53539 FOSB_HUMAN FBJ murine osteosarcoma viral oncogene homolog B 279 behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1) 13 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242) CTGACGGCTTCTCTCTTTACA 0.617000 7 50 0 0 0.006214 0 0 SPARCL1 8404 broad.mit.edu 37 4 88400665 88400665 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:88400665G>A ENST00000418378.1 - 11 2454 c.1883C>T c.(1882-1884)aCc>aTc p.T628I SPARCL1_ENST00000282470.6_Missense_Mutation_p.T628I|SPARCL1_ENST00000503414.1_Missense_Mutation_p.T503I NM_001128310.1 NP_001121782.1 Q14515 SPRL1_HUMAN SPARC-like 1 (hevin) 628 EF-hand. signal transduction extracellular space|proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2) 21 OV - Ovarian serous cystadenocarcinoma(123;0.00118) AAAGAAACGGGTTATGCAGTG 0.463000 7 160 0 0 0.003080 0 0 CD84 8832 broad.mit.edu 37 1 160520773 160520773 + Silent SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:160520773G>T ENST00000368054.3 - 5 848 c.813C>A c.(811-813)acC>acA p.T271T CD84_ENST00000368048.3_Silent_p.T282T|CD84_ENST00000534968.1_Silent_p.T157T|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000311224.4_Silent_p.T288T|CD84_ENST00000368051.3_Intron NM_003874.3 NP_003865.1 Q9UIB8 SLAF5_HUMAN CD84 molecule 288 blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1) 24 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CTGCTGGCTGGGTGTTCCTTG 0.453000 6 209 2.0095e-06 2.39435e-06 0.001984 1 0 LPPR4 9890 broad.mit.edu 37 1 99772444 99772444 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:99772444C>T ENST00000370185.3 + 7 2667 c.2170C>T c.(2170-2172)Cgc>Tgc p.R724C LPPR4_ENST00000457765.1_Missense_Mutation_p.R666C|LPPR4_ENST00000370184.1_Missense_Mutation_p.R566C NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 724 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) TTCTTCTTCCCGCGACTCCAC 0.507000 7 80 0 0 0.001984 0 0 RBM19 9904 broad.mit.edu 37 12 114395746 114395746 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:114395746C>G ENST00000545145.2 - 6 759 c.681G>C c.(679-681)gaG>gaC p.E227D RBM19_ENST00000261741.5_Missense_Mutation_p.E227D|RBM19_ENST00000392561.3_Missense_Mutation_p.E227D NM_001146699.1 NP_001140171.1 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 227 Poly-Glu. multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) CTTCACTTTCCTCTTCCTCCG 0.562000 8 202 0 0 0.006214 0 0 NDUFAF7 55471 broad.mit.edu 37 2 37464964 37464964 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:37464964T>A ENST00000002125.4 + 4 402 c.362T>A c.(361-363)gTg>gAg p.V121E NDUFAF7_ENST00000336237.6_Missense_Mutation_p.V94E|NDUFAF7_ENST00000483999.1_3'UTR NM_144736.4 NP_653337.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 7 TTCCAGCTGGTGGAACTGGGC 0.398000 31 126 0 0 0.017118 0 0 THSD7B 80731 broad.mit.edu 37 2 138208560 138208560 + Silent SNP A A C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:138208560A>C ENST00000409968.1 + 15 3283 c.3105A>C c.(3103-3105)ggA>ggC p.G1035G THSD7B_ENST00000272643.3_Silent_p.G1035G|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.G1004G thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) ACAATGGAGGACGACCATGTC 0.383000 4 63 0 0 0.009096 0 0 NLE1 54475 broad.mit.edu 37 17 33463193 33463193 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:33463193C>A ENST00000586869.1 - 8 1149 c.130G>T c.(130-132)Gtg>Ttg p.V44L NLE1_ENST00000442241.4_Missense_Mutation_p.V336L|NLE1_ENST00000360831.5_Missense_Mutation_p.V294L Q9NVX2 NLE1_HUMAN notchless homolog 1 (Drosophila) 336 nucleolus NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 22 Ovarian(249;0.17) CTCACCCGCACGAGGTTGTAT 0.552000 19 179 1.01871e-10 1.34236e-10 0.008871 1 0 PPM1A 5494 broad.mit.edu 37 14 60749471 60749471 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr14:60749471G>T ENST00000395076.4 + 2 480 c.50G>T c.(49-51)gGg>gTg p.G17V PPM1A_ENST00000325658.3_Missense_Mutation_p.G17V|PPM1A_ENST00000325642.3_Missense_Mutation_p.G90V|PPM1A_ENST00000529574.1_Missense_Mutation_p.G17V NM_021003.4 NP_066283.1 P35813 PPM1A_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1A 17 cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway cytosol|nucleus|protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(108;0.046) AATGCCCAGGGGCAGGGTAAT 0.473000 7 395 8.12818e-05 9.14683e-05 0.001984 1 0 INPP1 3628 broad.mit.edu 37 2 191235776 191235776 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:191235776G>A ENST00000392329.2 + 7 1548 c.848G>A c.(847-849)cGc>cAc p.R283H INPP1_ENST00000322522.4_Missense_Mutation_p.R283H|INPP1_ENST00000541441.1_Missense_Mutation_p.R283H NM_001128928.1 NP_001122400.1 P49441 INPP_HUMAN inositol polyphosphate-1-phosphatase 283 signal transduction inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057) Lithium(DB01356) TGTGGAGATCGCATATTTGGG 0.468000 6 289 0 0 0.021553 0 0 TCTN3 26123 broad.mit.edu 37 10 97440280 97440280 + Silent SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:97440280C>A ENST00000265993.8 - 13 1782 c.1539G>T c.(1537-1539)ccG>ccT p.P513P TCTN3_ENST00000430368.1_Silent_p.P365P|TCTN3_ENST00000371217.4_Silent_p.P526P NM_015631.5 NP_056446.4 Q6NUS6 TECT3_HUMAN tectonic family member 3 513 apoptosis integral to membrane p.P513P(2)|p.P335P(1) breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1) 15 Colorectal(252;0.0815) Epithelial(162;1.69e-07)|all cancers(201;5.63e-06) CATGAGCTTGCGGGTTGGACA 0.463000 21 232 1.2644e-06 1.51903e-06 0.010504 1 0 WNK3 65267 broad.mit.edu 37 X 54319353 54319353 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:54319353G>T ENST00000354646.2 - 10 2443 c.2005C>A c.(2005-2007)Cca>Aca p.P669T WNK3_ENST00000375169.3_Missense_Mutation_p.P669T|WNK3_ENST00000375159.2_Missense_Mutation_p.P669T NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 669 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 ACAGTTAATGGGGAAACCTGG 0.428000 8 133 5.4927e-09 7.0046e-09 0.004482 1 0 STIL 6491 broad.mit.edu 37 1 47716840 47716840 + Nonsense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:47716840T>A ENST00000360380.3 - 18 4195 c.3832A>T c.(3832-3834)Aaa>Taa p.K1278* STIL_ENST00000396221.2_Nonsense_Mutation_p.K1261*|STIL_ENST00000371877.3_Nonsense_Mutation_p.K1279*|STIL_ENST00000243182.6_Nonsense_Mutation_p.K1278*|STIL_ENST00000337817.5_Nonsense_Mutation_p.K1278* Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 1278 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) CTGAGACGTTTTACATCTAAG 0.383000 19 184 0 0 0.007413 0 0 ENO1 2023 broad.mit.edu 37 1 8923352 8923352 + Missense_Mutation SNP G G A rs143592223 TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:8923352G>A ENST00000234590.4 - 10 1237 c.1118C>T c.(1117-1119)tCg>tTg p.S373L NM_001428.3 NP_001419.1 P06733 ENOA_HUMAN enolase 1, (alpha) 373 Substrate binding (By similarity). gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus phosphopyruvate hydratase complex|plasma membrane|sarcomere DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 10 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) AGTCTCCCCCGAACGATGAGA 0.547000 OREG0013068 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 25 0 0 0.021553 0 0 TTN 7273 broad.mit.edu 37 2 179665315 179665315 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:179665315G>C ENST00000589042.1 - 4 614 c.390C>G c.(388-390)atC>atG p.I130M TTN_ENST00000360870.5_Missense_Mutation_p.I130M|TTN_ENST00000591111.1_Missense_Mutation_p.I130M|TTN_ENST00000460472.2_Missense_Mutation_p.I130M|TTN_ENST00000342175.6_Missense_Mutation_p.I130M|TTN_ENST00000342992.6_Missense_Mutation_p.I130M|TTN_ENST00000359218.5_Missense_Mutation_p.I130M NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 130 Ig-like 2. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGGTGTAGGGATTCCAGTCA 0.517000 5 151 0 0 0.014758 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188797 140188797 + Silent SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:140188797G>A ENST00000530339.1 + 1 2025 c.2025G>A c.(2023-2025)gcG>gcA p.A675A PCDHA4_ENST00000512229.2_Silent_p.A675A|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.A675A|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGACAGGCGCCAAAGGCCT 0.652000 3 36 0 0 0.004672 0 0 ABCF1 23 broad.mit.edu 37 6 30545196 30545196 + Silent SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:30545196G>A ENST00000326195.8 + 2 196 c.84G>A c.(82-84)gtG>gtA p.V28V ABCF1_ENST00000396515.4_Silent_p.V28V|ABCF1_ENST00000376545.3_Silent_p.V28V NM_001025091.1 NP_001020262.1 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F (GCN20), member 1 28 inflammatory response|translational initiation nuclear envelope|nucleoplasm|polysomal ribosome ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2) 21 ACAAAGTGGTGAAGAAAGGGA 0.408000 8 72 0 0 0.006214 0 0 SLC16A12 387700 broad.mit.edu 37 10 91195875 91195875 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:91195875C>T ENST00000341233.4 - 7 1530 c.1140G>A c.(1138-1140)gcG>gcA p.A380A SLC16A12_ENST00000371790.4_Silent_p.A410A NM_213606.3 NP_998771.3 Q6ZSM3 MOT12_HUMAN solute carrier family 16, member 12 380 integral to membrane|plasma membrane symporter activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1) 14 CCACACCAAGCGCTGATGACA 0.498000 5 45 0 0 0.014758 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84607525 84607525 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr9:84607525C>A ENST00000344803.2 + 4 2187 c.2140C>A c.(2140-2142)Cgt>Agt p.R714S NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 GTCATTGCTACGTCCTCAGAG 0.473000 12 83 1.05317e-09 1.35497e-09 0.020292 1 0 EXOSC3 51010 broad.mit.edu 37 9 37780832 37780832 + Silent SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr9:37780832G>C ENST00000327304.5 - 4 684 c.672C>G c.(670-672)ctC>ctG p.L224L EXOSC3_ENST00000396521.3_3'UTR|EXOSC3_ENST00000490516.1_5'UTR|RP11-613M10.9_ENST00000540557.1_Intron NM_016042.3 NP_057126.2 Q9NQT5 EXOS3_HUMAN exosome component 3 224 CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|protein binding|RNA binding breast(2)|endometrium(1)|kidney(1) 4 GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221) CCAGTGGATAGAGTTTTCCCA 0.388000 5 58 0 0 0.021553 0 0 GAS2L3 283431 broad.mit.edu 37 12 100994247 100994247 + Translation_Start_Site SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:100994247G>A ENST00000537247.1 + 0 492 GAS2L3_ENST00000547754.1_Missense_Mutation_p.D36N|GAS2L3_ENST00000266754.5_Missense_Mutation_p.D36N|GAS2L3_ENST00000539410.1_Missense_Mutation_p.D36N Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 cell cycle arrest endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 TTGTCAGTACGATGAGTGGAT 0.448000 7 282 0 0 0.001984 0 0 UGT3A2 167127 broad.mit.edu 37 5 36037907 36037907 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:36037907T>A ENST00000282507.3 - 6 1388 c.1287A>T c.(1285-1287)gaA>gaT p.E429D UGT3A2_ENST00000513300.1_Missense_Mutation_p.E395D|UGT3A2_ENST00000545528.1_Missense_Mutation_p.E127D NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 429 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACCTCTTGTCTTCCATGATTT 0.403000 11 410 0 0 0.013537 0 0 ZFYVE1 53349 broad.mit.edu 37 14 73490891 73490891 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr14:73490891G>A ENST00000556143.1 - 2 1046 c.326C>T c.(325-327)tCt>tTt p.S109F ZFYVE1_ENST00000553891.1_Missense_Mutation_p.S109F|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.S109F NM_021260.2 NP_067083.1 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 109 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1) 35 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) GTTACCCCCAGAATGAGTCCT 0.502000 10 196 0 0 0.013537 0 0 PSG4 5672 broad.mit.edu 37 19 43708284 43708284 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:43708284G>A ENST00000405312.3 - 2 421 c.184C>T c.(184-186)Ctt>Ttt p.L62F PSG4_ENST00000244295.9_Missense_Mutation_p.L62F|PSG4_ENST00000433626.2_Missense_Mutation_p.L62F NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 62 Ig-like V-type. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) TAGCCAGCAAGATTCTGGGGC 0.448000 15 809 0 0 0.007413 0 0 DST 667 broad.mit.edu 37 6 56485137 56485137 + Missense_Mutation SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:56485137T>C ENST00000370765.6 - 23 3802 c.3695A>G c.(3694-3696)gAa>gGa p.E1232G DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1574 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GAGGTTCTCTTCCACGGCAGC 0.458000 5 166 0 0 0.004482 0 0 RCL1 10171 broad.mit.edu 37 9 4833157 4833157 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr9:4833157G>A ENST00000381750.4 + 4 611 c.388G>A c.(388-390)Gat>Aat p.D130N NM_005772.3 NP_005763.3 Q9Y2P8 RCL1_HUMAN RNA terminal phosphate cyclase-like 1 130 ribosome biogenesis|RNA processing nucleolus RNA-3'-phosphate cyclase activity breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0244) TTCATAGGTTGATGTTCTTAA 0.343000 8 253 0 0 0.006214 0 0 LELP1 149018 broad.mit.edu 37 1 153177288 153177288 + Missense_Mutation SNP T T G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:153177288T>G ENST00000368747.1 + 2 215 c.105T>G c.(103-105)tgT>tgG p.C35W NM_001010857.1 NP_001010857.1 Q5T871 LELP1_HUMAN late cornified envelope-like proline-rich 1 35 Cys/Pro-rich. NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1) 19 all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) AGCCCAGCTGTTTAAAGAAGC 0.507000 5 352 0 0 0.014758 0 0 GPR125 166647 broad.mit.edu 37 4 22389682 22389682 + Silent SNP G G A rs146569496 TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:22389682G>A ENST00000334304.5 - 19 3881 c.3612C>T c.(3610-3612)aaC>aaT p.N1204N GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 1204 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) TAGGTAAGCCGTTCTGCACGC 0.522000 21 219 0 0 0.016522 0 0 BTC 685 broad.mit.edu 37 4 75681169 75681169 + Missense_Mutation SNP T T G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:75681169T>G ENST00000395743.3 - 3 541 c.181A>C c.(181-183)Aag>Cag p.K61Q NM_001729.2 NP_001720.1 P35070 BTC_HUMAN betacellulin 61 positive regulation of cell division|positive regulation of cell proliferation extracellular space|integral to membrane|plasma membrane|soluble fraction epidermal growth factor receptor binding|growth factor activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 10 Lung(101;0.219) CCTTTCCGCTTTGATTGTGTG 0.438000 28 432 0 0 0.019004 0 0 FOXN2 3344 broad.mit.edu 37 2 48573489 48573489 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:48573489C>G ENST00000340553.3 + 3 397 c.136C>G c.(136-138)Cta>Gta p.L46V NM_002158.3 NP_002149.2 P32314 FOXN2_HUMAN forkhead box N2 46 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 13 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036) GAAGGCCACTCTAGTGGACAG 0.473000 17 196 0 0 0.014323 0 0 LINC00969 440993 broad.mit.edu 37 3 195410689 195410689 + RNA SNP C C T rs6583275 by1000genomes TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:195410689C>T ENST00000445430.1 + 0 1886 CTTTGAGGTGCACTGGAGGAA 0.567000 3 12 0 0 0.009096 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92848786 92848786 + Missense_Mutation SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:92848786T>C ENST00000341723.4 - 1 109 c.22A>G c.(22-24)Act>Gct p.T8A HEPACAM2_ENST00000453812.2_Intron|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.T8A|HEPACAM2_ENST00000394468.2_Intron NM_198151.1 NP_937794.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 0 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 GAAAGGAAAGTTGTGAAGACC 0.498000 19 275 0 0 0.010504 0 0 MUC6 4588 broad.mit.edu 37 11 1019491 1019491 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:1019491G>T ENST00000421673.2 - 30 3864 c.3814C>A c.(3814-3816)Cct>Act p.P1272T NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1272 Pro-rich.|Thr-rich. 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) GTTGGTCTAGGTGGTTCTGCA 0.632000 7 26 2.0095e-06 2.39435e-06 0.001984 1 0 GRAMD1C 54762 broad.mit.edu 37 3 113627906 113627906 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:113627906C>G ENST00000358160.4 + 9 1383 c.891C>G c.(889-891)gaC>gaG p.D297E GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.D130E|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.D92E NM_017577.4 NP_060047.3 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 297 integral to membrane NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 26 AGTCACTGGACTTGAATAAAA 0.323000 5 129 0 0 0.003080 0 0 CSMD1 64478 broad.mit.edu 37 8 3267071 3267071 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr8:3267071C>A ENST00000602557.1 - 14 2176 c.1621G>T c.(1621-1623)Ggc>Tgc p.G541C CSMD1_ENST00000400186.3_Missense_Mutation_p.G541C|CSMD1_ENST00000542608.1_Missense_Mutation_p.G540C|CSMD1_ENST00000539096.1_Missense_Mutation_p.G540C|CSMD1_ENST00000537824.1_Missense_Mutation_p.G540C|CSMD1_ENST00000602723.1_Missense_Mutation_p.G541C|CSMD1_ENST00000520002.1_Missense_Mutation_p.G541C Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 541 Sushi 3. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AAACTGCTGCCCGTCCGCTTC 0.498000 6 33 3.59834e-05 4.09158e-05 0.021553 1 0 MACF1 23499 broad.mit.edu 37 1 39800952 39800952 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:39800952G>A ENST00000564288.1 + 37 9469 c.8692G>A c.(8692-8694)Gct>Act p.A2898T MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.A2935T|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.A2903T|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.A1338T Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2903 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TAAAGAAGTGGCTAGAAATAA 0.338000 9 102 0 0 0.006214 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57068421 57068421 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:57068421G>A ENST00000532437.1 - 9 5377 c.5066C>T c.(5065-5067)tCc>tTc p.S1689F TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S1689F Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1689 Arg/Glu/Lys-rich (charged). nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) GACCTTGCAGGATTTCGAACG 0.612000 11 492 0 0 0.013537 0 0 THBS4 7060 broad.mit.edu 37 5 79351616 79351616 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:79351616C>G ENST00000350881.2 + 3 491 c.301C>G c.(301-303)Cgt>Ggt p.R101G THBS4_ENST00000511733.1_Missense_Mutation_p.R10G|CTD-2201I18.1_ENST00000503007.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 101 TSP N-terminal. endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity p.R101S(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) AGCCATCCTCCGTTACCTGAA 0.527000 8 380 0 0 0.006214 0 0 KLRB1 3820 broad.mit.edu 37 12 9751094 9751094 + Splice_Site SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:9751094C>T ENST00000229402.3 - 4 461 c.e4+1 NM_002258.2 NP_002249.1 Q12918 KLRB1_HUMAN killer cell lectin-like receptor subfamily B, member 1 cell surface receptor linked signaling pathway integral to membrane|plasma membrane sugar binding|transmembrane receptor activity endometrium(2)|large_intestine(6)|lung(4) 12 TAATGATTTACCAATTCATCC 0.353000 45 164 0 0 0.014410 0 0 PBX2 5089 broad.mit.edu 37 6 32155858 32155858 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:32155858C>T ENST00000375050.4 - 4 889 c.619G>A c.(619-621)Gag>Aag p.E207K NM_002586.4 NP_002577.2 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 207 transcription factor binding endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2) 14 CGTTCCATCTCTTTGGGGGCC 0.597000 4 9 0 0 0.009096 0 0 ABLIM3 22885 broad.mit.edu 37 5 148586662 148586662 + Silent SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:148586662C>A ENST00000506113.1 + 5 1022 c.540C>A c.(538-540)acC>acA p.T180T RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000356541.3_Silent_p.T180T|ABLIM3_ENST00000504238.1_Silent_p.T180T|ABLIM3_ENST00000326685.7_Silent_p.T180T|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000309868.7_Silent_p.T180T|ABLIM3_ENST00000508983.1_Silent_p.T180T O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 180 LIM zinc-binding 3. axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTGCCAGACCTGCAGCGTCA 0.617000 5 92 8.12818e-05 9.14683e-05 0.001984 1 0 CRNKL1 51340 broad.mit.edu 37 20 20017996 20017996 + Missense_Mutation SNP T T G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr20:20017996T>G ENST00000377340.2 - 14 2381 c.2350A>C c.(2350-2352)Aag>Cag p.K784Q CRNKL1_ENST00000536226.1_Missense_Mutation_p.K623Q|CRNKL1_ENST00000521379.1_5'UTR|CRNKL1_ENST00000377327.4_Missense_Mutation_p.K772Q NM_001278628.1|NM_016652.4 NP_001265557.1|NP_057736.4 Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 784 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 TTTCTTCTCTTCTTGACTTTC 0.448000 28 482 0 0 0.006320 0 0 VMP1 81671 broad.mit.edu 37 17 57917156 57917156 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:57917156G>C ENST00000262291.4 + 12 1415 c.1105G>C c.(1105-1107)Gaa>Caa p.E369Q VMP1_ENST00000536180.1_Missense_Mutation_p.E272Q|VMP1_ENST00000588617.1_3'UTR|VMP1_ENST00000537567.1_Missense_Mutation_p.E235Q|VMP1_ENST00000539763.1_Missense_Mutation_p.E177Q|VMP1_ENST00000545362.1_Missense_Mutation_p.E313Q NM_030938.3 NP_112200.2 Q96GC9 VMP1_HUMAN vacuole membrane protein 1 369 autophagy|cell adhesion endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane p.E369Q(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2) 16 CTGGATGTTTGAAAAGTTGGT 0.388000 11 519 0 0 0.013537 0 0 PRICKLE1 144165 broad.mit.edu 37 12 42858653 42858653 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:42858653C>T ENST00000455697.1 - 7 1468 c.1183G>A c.(1183-1185)Ggc>Agc p.G395S PRICKLE1_ENST00000548696.1_Missense_Mutation_p.G395S|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.G395S|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.G395S|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.G395S NM_001144882.1|NM_001144883.1 NP_001138354.1|NP_001138355.1 Q96MT3 PRIC1_HUMAN prickle homolog 1 (Drosophila) 395 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) TCTACTCTGCCTTTCCAAAAT 0.453000 4 51 0 0 0.009096 0 0 OR8H2 390151 broad.mit.edu 37 11 55872529 55872529 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:55872529G>T ENST00000313503.1 + 1 11 c.11G>T c.(10-12)aGa>aTa p.R4I NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) ATGATGGGTAGAAGGAATAAC 0.458000 HNSCC(53;0.14) 39 531 2.61675e-31 3.82415e-31 0.013114 1 0 ZBBX 79740 broad.mit.edu 37 3 167045801 167045801 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:167045801T>A ENST00000392766.2 - 11 1131 c.791A>T c.(790-792)gAa>gTa p.E264V ZBBX_ENST00000392767.2_Missense_Mutation_p.E264V|ZBBX_ENST00000455345.2_Missense_Mutation_p.E264V|ZBBX_ENST00000392764.1_Missense_Mutation_p.E235V|ZBBX_ENST00000307529.5_Missense_Mutation_p.E264V|ZBBX_ENST00000469220.1_Intron NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 264 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 ACTTAACACTTCCTGAAAGGA 0.363000 19 616 0 0 0.016522 0 0 LRRC10 376132 broad.mit.edu 37 12 70004207 70004207 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:70004207C>A ENST00000361484.3 - 1 735 c.412G>T c.(412-414)Gat>Tat p.D138Y NM_201550.2 NP_963844.2 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 138 nucleus large_intestine(2)|lung(6) 8 all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) CAGACCACATCCGGCAGCTGG 0.632000 6 39 6.31663e-08 7.8373e-08 0.024245 1 0 ZNF677 342926 broad.mit.edu 37 19 53741285 53741285 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:53741285C>G ENST00000333952.4 - 5 860 c.695G>C c.(694-696)tGt>tCt p.C232S ZNF677_ENST00000598513.1_Missense_Mutation_p.C232S Q86XU0 ZN677_HUMAN zinc finger protein 677 232 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) GTTTTTGACACAAGGAGGAAG 0.343000 14 69 0 0 0.016723 0 0 POLR3B 55703 broad.mit.edu 37 12 106853047 106853047 + Missense_Mutation SNP A A G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:106853047A>G ENST00000228347.4 + 22 2693 c.2471A>G c.(2470-2472)aAa>aGa p.K824R POLR3B_ENST00000539066.1_Missense_Mutation_p.K766R NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 824 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 GTAGAAAACAAACAAGTGCTT 0.398000 10 406 0 0 0.008291 0 0 COL11A1 1301 broad.mit.edu 37 1 103491099 103491099 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:103491099C>T ENST00000358392.2 - 7 1321 c.1004G>A c.(1003-1005)aGg>aAg p.R335K COL11A1_ENST00000353414.4_Missense_Mutation_p.R284K|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Missense_Mutation_p.R323K NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 323 Nonhelical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) AGAAACATGCCTAGGAGCTTC 0.328000 10 120 0 0 0.016723 0 0 CSMD3 114788 broad.mit.edu 37 8 113353829 113353829 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr8:113353829C>G ENST00000297405.5 - 42 6773 c.6529G>C c.(6529-6531)Gtt>Ctt p.V2177L CSMD3_ENST00000352409.3_Missense_Mutation_p.V2107L|CSMD3_ENST00000343508.3_Missense_Mutation_p.V2137L|CSMD3_ENST00000455883.2_Missense_Mutation_p.V2073L NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2177 CUB 12. integral to membrane|plasma membrane p.V2177I(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CGGCCAATAACAGTACTAGTT 0.378000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 99 0 0 0.009096 0 0 GGCT 79017 broad.mit.edu 37 7 30538475 30538475 + Nonsense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:30538475G>A ENST00000275428.4 - 3 501 c.367C>T c.(367-369)Cga>Tga p.R123* GGCT_ENST00000598361.1_Nonsense_Mutation_p.R38*|GGCT_ENST00000005374.6_Intron|GGCT_ENST00000409390.1_Intron|GGCT_ENST00000409436.1_Nonsense_Mutation_p.R123*|GGCT_ENST00000409144.1_Intron NM_024051.3 NP_076956.1 O75223 GGCT_HUMAN gamma-glutamylcyclotransferase 123 release of cytochrome c from mitochondria cytosol acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 8 AGATAACTTCGACAGGTTATT 0.368000 15 226 0 0 0.020292 0 0 C2orf71 388939 broad.mit.edu 37 2 29295044 29295044 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:29295044T>A ENST00000331664.5 - 1 2083 c.2084A>T c.(2083-2085)gAa>gTa p.E695V NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 695 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 TTTGCCTTGTTCGTCCTCAGG 0.532000 7 132 0 0 0.003080 0 0 OR6Y1 391112 broad.mit.edu 37 1 158517838 158517838 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:158517838G>T ENST00000302617.3 - 1 57 c.58C>A c.(58-60)Ctg>Atg p.L20M NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) GGAAACCCCAGAAGAATGAAA 0.453000 20 239 1.40151e-16 1.94381e-16 0.010504 1 0 MAGI2 9863 broad.mit.edu 37 7 77789536 77789536 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:77789536C>A ENST00000354212.4 - 16 2904 c.2651G>T c.(2650-2652)aGc>aTc p.S884I MAGI2_ENST00000522391.1_Missense_Mutation_p.S884I|MAGI2_ENST00000419488.1_Missense_Mutation_p.S870I NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 884 cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) GCGTGGAGAGCTGTGGTGGGT 0.572000 12 35 4.7546e-09 6.08115e-09 0.028581 1 0 B3GALT1 8708 broad.mit.edu 37 2 168725727 168725727 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:168725727C>A ENST00000305861.1 + 2 529 c.178C>A c.(178-180)Cca>Aca p.P60T B3GALT1_ENST00000392690.2_Missense_Mutation_p.P60T|AC016723.4_ENST00000436982.2_RNA|AC016723.4_ENST00000430546.1_RNA NM_020981.3 NP_066191.1 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 60 lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 ACCTATCAACCCACATTCTTT 0.413000 11 168 9.70103e-10 1.25365e-09 0.008291 1 0 SI 6476 broad.mit.edu 37 3 164741463 164741463 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:164741463G>T ENST00000264382.3 - 26 3056 c.2994C>A c.(2992-2994)gaC>gaA p.D998E NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 998 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTAGTTGGAGGTCAGCTGTTA 0.408000 HNSCC(35;0.089) 23 217 2.98393e-07 3.66573e-07 0.016522 1 0 SLC24A4 123041 broad.mit.edu 37 14 92908475 92908475 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr14:92908475G>T ENST00000532405.1 + 5 662 c.436G>T c.(436-438)Gct>Tct p.A146S SLC24A4_ENST00000298877.1_Missense_Mutation_p.A129S|SLC24A4_ENST00000531433.1_Missense_Mutation_p.A146S|SLC24A4_ENST00000393265.2_Missense_Mutation_p.A82S|SLC24A4_ENST00000351924.5_Missense_Mutation_p.A129S Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 146 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) CACCTTCATGGCTGCAGGAAG 0.542000 5 72 0.014758 0.0153392 0.014758 1 0 LPPR4 9890 broad.mit.edu 37 1 99753629 99753629 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:99753629C>G ENST00000370185.3 + 2 828 c.331C>G c.(331-333)Ccg>Gcg p.P111A LPPR4_ENST00000457765.1_Missense_Mutation_p.P111A NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 111 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) TCTTAGCATGCCGTACATTGA 0.463000 26 243 0 0 0.024334 0 0 CCL17 6361 broad.mit.edu 37 16 57448996 57448996 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr16:57448996G>A ENST00000219244.4 + 3 203 c.74G>A c.(73-75)cGa>cAa p.R25Q NM_002987.2 NP_002978.1 Q92583 CCL17_HUMAN chemokine (C-C motif) ligand 17 25 cell-cell signaling|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|multicellular organismal development extracellular space chemokine activity breast(1)|endometrium(1)|lung(2)|ovary(1) 5 CCTGCAGCTCGAGGGACCAAT 0.607000 28 153 0 0 0.008361 0 0 SSTR4 6754 broad.mit.edu 37 20 23016843 23016843 + Silent SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr20:23016843G>T ENST00000255008.3 + 1 787 c.723G>T c.(721-723)gtG>gtT p.V241V RP4-753D10.3_ENST00000440921.1_RNA NM_001052.2 NP_001043.2 P31391 SSR4_HUMAN somatostatin receptor 4 241 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 32 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) TGCGCGCCGTGGCCCTGCGCG 0.632000 6 33 0.000442599 0.000487363 0.006214 1 0 KANTR 102723508 broad.mit.edu 37 X 53172478 53172478 + RNA SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:53172478G>A ENST00000604849.1 + 0 1041 TTGATGTCGCGCACAATCTCC 0.587000 3 29 0 0 0.014758 0 0 DYNC2LI1 51626 broad.mit.edu 37 2 44032291 44032291 + Splice_Site SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:44032291A>T ENST00000260605.8 + 12 1000 c.e12-1 DYNC2LI1_ENST00000605786.1_Splice_Site|DYNC2LI1_ENST00000443170.3_Splice_Site NM_001193464.1|NM_016008.3 NP_001180393.1|NP_057092.2 Q8TCX1 DC2L1_HUMAN dynein, cytoplasmic 2, light intermediate chain 1 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1) 26 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TTGTAATTTCAGAGTATTAAC 0.408000 8 129 0 0 0.004482 0 0 IGSF10 285313 broad.mit.edu 37 3 151164733 151164733 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:151164733C>A ENST00000282466.3 - 4 3035 c.3036G>T c.(3034-3036)agG>agT p.R1012S NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1012 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTTTCCTCTGCCTCCCAAAGC 0.498000 32 166 1.06647e-15 1.46514e-15 0.017118 1 0 NR2E1 7101 broad.mit.edu 37 6 108501542 108501542 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:108501542G>A ENST00000368986.4 + 6 1366 c.658G>A c.(658-660)Gat>Aat p.D220N NR2E1_ENST00000368983.3_Missense_Mutation_p.D257N NM_003269.3 NP_003260.1 Q9Y466 NR2E1_HUMAN nuclear receptor subfamily 2, group E, member 1 220 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3) 30 all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637) BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689) GCTTTTGGAAGATGCTTGGAG 0.318000 11 124 0 0 0.013537 0 0 CENPF 1063 broad.mit.edu 37 1 214803903 214803903 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:214803903C>G ENST00000366955.3 + 9 1389 c.1221C>G c.(1219-1221)ttC>ttG p.F407L NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 407 Interaction with SNAP25 and required for localization to the cytoplasm (By similarity). 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) AGCGTTCTTTCCAAACACTGG 0.532000 127 514 0 0 0.014410 0 0 CHN1 1123 broad.mit.edu 37 2 175677131 175677131 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:175677131C>G ENST00000409900.3 - 9 1105 c.792G>C c.(790-792)aaG>aaC p.K264N CHN1_ENST00000409597.1_Missense_Mutation_p.K80N|CHN1_ENST00000409156.3_Missense_Mutation_p.K238N|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000295497.7_Missense_Mutation_p.K139N NM_001822.5 NP_001813.1 P15882 CHIN_HUMAN chimerin 1 264 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity p.K264N(1)|p.K139N(1) NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) AGCTGTACACCTTTTTGACAT 0.443000 T TAF15 extraskeletal myxoid chondrosarcoma 22 162 0 0 0.012319 0 0 SHBG 6462 broad.mit.edu 37 17 7536069 7536069 + Splice_Site SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:7536069G>A ENST00000380450.4 + 7 883 c.e7-1 SHBG_ENST00000572182.1_Intron|SHBG_ENST00000416273.3_Intron|SHBG_ENST00000572262.1_Splice_Site|SHBG_ENST00000441599.2_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000575903.1_Splice_Site|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000575314.1_Splice_Site|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000340624.5_Intron NM_001040.3 NP_001031.2 P04278 SHBG_HUMAN sex hormone-binding globulin hormone transport extracellular region androgen binding|protein homodimerization activity p.0?(1)|p.?(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1) 10 all_cancers(10;0.0867) READ - Rectum adenocarcinoma(115;0.168) Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624) ACACTCTGCAGAAGGTGGTGT 0.587000 OREG0024140 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 79 0 0 0.021553 0 0 MTG2 26164 broad.mit.edu 37 20 60772967 60772967 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr20:60772967G>A ENST00000370823.3 + 4 430 c.412G>A c.(412-414)Gaa>Aaa p.E138K MTG2_ENST00000436421.2_Intron|MTG2_ENST00000461411.1_3'UTR|MTG2_ENST00000536470.1_5'UTR NM_015666.3 NP_056481.1 mitochondrial ribosome-associated GTPase 2 TTTCAGTGGAGAAGATGGAGG 0.572000 13 68 0 0 0.024245 0 0 KCNH7 90134 broad.mit.edu 37 2 163241380 163241380 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:163241380A>T ENST00000332142.5 - 13 2879 c.2780T>A c.(2779-2781)tTt>tAt p.F927Y NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 927 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TTTCTCTTCAAAGTGTCTCTT 0.373000 70 429 0 0 0.014410 0 0 SAMD9 54809 broad.mit.edu 37 7 92731848 92731848 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:92731848C>A ENST00000379958.2 - 3 3832 c.3563G>T c.(3562-3564)cGg>cTg p.R1188L NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1188 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) AGTATCATACCGCCTTTTTGA 0.358000 57 248 1.78197e-24 2.56544e-24 0.014410 1 0 APOL3 80833 broad.mit.edu 37 22 36537717 36537717 + Nonsense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr22:36537717G>C ENST00000424878.2 - 4 2288 c.140C>G c.(139-141)tCa>tGa p.S47* APOL3_ENST00000349314.2_Nonsense_Mutation_p.S247*|APOL3_ENST00000397293.2_Nonsense_Mutation_p.S176*|APOL3_ENST00000397287.2_Nonsense_Mutation_p.S47*|APOL3_ENST00000361710.2_Nonsense_Mutation_p.S47* O95236 APOL3_HUMAN apolipoprotein L, 3 247 inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region lipid binding|lipid transporter activity|signal transducer activity endometrium(2)|large_intestine(1)|lung(1)|stomach(1) 5 AGCTTCTGCTGATGATGTGTA 0.537000 17 41 0 0 0.006122 0 0 CMKLR1 1240 broad.mit.edu 37 12 108685665 108685665 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:108685665T>A ENST00000397688.2 - 3 1438 c.1069A>T c.(1069-1071)Atg>Ttg p.M357L CMKLR1_ENST00000550402.1_Missense_Mutation_p.M359L|CMKLR1_ENST00000552995.1_Missense_Mutation_p.M357L|CMKLR1_ENST00000412676.1_Missense_Mutation_p.M359L|CMKLR1_ENST00000312143.7_Missense_Mutation_p.M359L NM_004072.2 NP_004063.1 Q99788 CML1_HUMAN chemokine-like receptor 1 359 chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 CTCTCATTCATTGATGACATC 0.507000 6 195 0 0 0.001984 0 0 PROKR1 10887 broad.mit.edu 37 2 68882357 68882357 + Silent SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:68882357C>G ENST00000303786.3 + 3 1251 c.831C>G c.(829-831)cgC>cgG p.R277R PROKR1_ENST00000394342.2_Silent_p.R277R Q8TCW9 PKR1_HUMAN prokineticin receptor 1 277 integral to membrane|plasma membrane neuropeptide Y receptor activity endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 AGAGGCTGCGCTGCCGCAGGA 0.622000 4 48 0 0 0.021553 0 0 ZFP90 146198 broad.mit.edu 37 16 68598296 68598296 + Silent SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr16:68598296C>A ENST00000570495.1 + 5 1898 c.1606C>A c.(1606-1608)Cga>Aga p.R536R ZFP90_ENST00000563169.2_Silent_p.R536R|RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000398253.2_Silent_p.R536R Q8TF47 ZFP90_HUMAN ZFP90 zinc finger protein 536 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) AGCCTTTAGTCGACGCTCATC 0.418000 15 128 1.99824e-07 2.46176e-07 0.004990 1 0 OR5M8 219484 broad.mit.edu 37 11 56258693 56258693 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:56258693C>T ENST00000327216.2 - 1 178 c.154G>A c.(154-156)Gcc>Acc p.A52T NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 52 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) TGGAGCCAGGCGTTGGCCTGG 0.502000 11 375 0 0 0.013537 0 0 MYOCD 93649 broad.mit.edu 37 17 12656043 12656043 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:12656043C>A ENST00000425538.1 + 10 1638 c.1438C>A c.(1438-1440)Ccc>Acc p.P480T MYOCD_ENST00000343344.4_Missense_Mutation_p.P480T|MYOCD_ENST00000395988.1_Missense_Mutation_p.P384T NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 480 Ser-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) TGATGCCTCCCCCTCCTTCGG 0.632000 4 74 3.59834e-05 4.09158e-05 0.021553 1 0 PATE1 160065 broad.mit.edu 37 11 125616206 125616206 + Nonsense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:125616206A>T ENST00000305738.5 + 1 19 c.7A>T c.(7-9)Aag>Tag p.K3* PATE1_ENST00000437148.2_Nonsense_Mutation_p.K3* NM_138294.2 NP_612151.1 Q8WXA2 PATE1_HUMAN prostate and testis expressed 1 3 extracellular region large_intestine(1)|lung(5) 6 caaaatggacaagtccctctt 0.532000 74 381 0 0 0.014410 0 0 CADPS2 93664 broad.mit.edu 37 7 122303495 122303495 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:122303495C>G ENST00000334010.7 - 3 1003 c.582G>C c.(580-582)ttG>ttC p.L194F CADPS2_ENST00000412584.2_Missense_Mutation_p.L194F|CADPS2_ENST00000449022.2_Missense_Mutation_p.L194F|CADPS2_ENST00000313070.7_Missense_Mutation_p.L194F NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 194 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 TCTCTTTGCTCAAGCCATCTA 0.423000 10 219 0 0 0.008291 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125262125 125262125 + Missense_Mutation SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:125262125T>C ENST00000431078.1 + 8 1680 c.1316T>C c.(1315-1317)aTc>aCc p.I439T NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 439 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GTAGCTGAAATCCTCACAGGT 0.493000 3 30 0 0 0.009096 0 0 SPATA33 124045 broad.mit.edu 37 16 89735693 89735693 + Splice_Site SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr16:89735693G>C ENST00000301031.4 + 3 208 c.e3-1 SPATA33_ENST00000579310.1_Splice_Site NM_001271908.1|NM_153025.1 NP_001258837.1|NP_694570.1 spermatogenesis associated 33 TTTTCCTCTAGAGAAACCTGA 0.458000 13 35 0 0 0.024245 0 0 FAT3 120114 broad.mit.edu 37 11 92523332 92523332 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:92523332C>A ENST00000298047.6 + 7 4576 c.4559C>A c.(4558-4560)aCt>aAt p.T1520N FAT3_ENST00000409404.2_Missense_Mutation_p.T1520N|FAT3_ENST00000525166.1_Missense_Mutation_p.T1370N Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1520 Cadherin 14. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GTGCTCTATACTGCCGAGAGG 0.488000 TCGA Ovarian(4;0.039) 54 268 6.8176e-14 9.27832e-14 0.014410 1 0 RPS19BP1 91582 broad.mit.edu 37 22 39925559 39925559 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr22:39925559C>T ENST00000334678.3 - 4 465 c.349G>A c.(349-351)Gag>Aag p.E117K NM_194326.2 NP_919307.1 Q86WX3 AROS_HUMAN ribosomal protein S19 binding protein 1 117 nucleolus|nucleoplasm endometrium(1)|kidney(1)|large_intestine(1) 3 Melanoma(58;0.04) ACGGTGCCCTCAGCCTTCTTC 0.622000 OREG0026578 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 57 0 0 0.009096 0 0 TNKS2 80351 broad.mit.edu 37 10 93596694 93596694 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:93596694A>T ENST00000371627.4 + 13 1845 c.1466A>T c.(1465-1467)aAt>aTt p.N489I NM_025235.3 NP_079511.1 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 489 positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 48 Colorectal(252;0.162) TCATTAGGTAATTCAGAGGCA 0.403000 8 71 0 0 0.013537 0 0 CHI3L1 1116 broad.mit.edu 37 1 203149613 203149613 + Silent SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:203149613G>C ENST00000255409.3 - 8 1004 c.879C>G c.(877-879)acC>acG p.T293T NM_001276.2 NP_001267.2 P36222 CH3L1_HUMAN chitinase 3-like 1 (cartilage glycoprotein-39) 293 chitin catabolic process extracellular space|proteinaceous extracellular matrix cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1) 18 AGTAGGCAAGGGTCCCTGCCT 0.572000 12 72 0 0 0.006122 0 0 PSG2 5670 broad.mit.edu 37 19 43585123 43585123 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:43585123G>A ENST00000406487.1 - 2 438 c.340C>T c.(340-342)Cgg>Tgg p.R114W NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 114 Ig-like V-type. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) GCGTCCTCCCGGGTGACATTC 0.438000 26 673 0 0 0.017118 0 0 TEKT3 64518 broad.mit.edu 37 17 15231371 15231371 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:15231371G>A ENST00000395930.1 - 4 787 c.601C>T c.(601-603)Cat>Tat p.H201Y TEKT3_ENST00000338696.2_Missense_Mutation_p.H201Y NM_031898.2 NP_114104.1 Q9BXF9 TEKT3_HUMAN tektin 3 201 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 23 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) TTTTCTCGATGAAATAGACAT 0.403000 8 368 0 0 0.008291 0 0 CAPN6 827 broad.mit.edu 37 X 110494909 110494909 + Missense_Mutation SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:110494909T>C ENST00000324068.1 - 6 928 c.761A>G c.(760-762)tAt>tGt p.Y254C CAPN6_ENST00000541758.1_5'UTR NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 254 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 AGTCATGGTATAGGTATGGCC 0.458000 52 2114 0 0 0.010504 0 0 FAM196A 642938 broad.mit.edu 37 10 128974376 128974376 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:128974376G>T ENST00000522781.1 - 4 839 c.284C>A c.(283-285)tCc>tAc p.S95Y DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.S95Y NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 95 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 GTTGGGGATGGACCTGCGTGC 0.607000 10 40 1.76689e-08 2.22716e-08 0.006214 1 0 SALL4 57167 broad.mit.edu 37 20 50408104 50408104 + Silent SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr20:50408104C>A ENST00000217086.4 - 2 1029 c.918G>T c.(916-918)ctG>ctT p.L306L SALL4_ENST00000395997.3_Silent_p.L306L|SALL4_ENST00000371539.3_Intron NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 306 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GCCCTGGGGACAGGGAGCTGG 0.622000 4 58 0.00909568 0.00951061 0.009096 1 0 SLITRK2 84631 broad.mit.edu 37 X 144905858 144905858 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:144905858T>A ENST00000370490.1 + 1 6170 c.1915T>A c.(1915-1917)Tta>Ata p.L639I SLITRK2_ENST00000434188.2_Missense_Mutation_p.L639I|SLITRK2_ENST00000413937.2_Missense_Mutation_p.L639I|SLITRK2_ENST00000447897.2_Missense_Mutation_p.L639I|SLITRK2_ENST00000428560.2_Missense_Mutation_p.L639I Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 639 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) TGGGGCTGGTTTATTCGTCTT 0.433000 5 139 0 0 0.014758 0 0 ABCB1 5243 broad.mit.edu 37 7 87133606 87133606 + Missense_Mutation SNP T T G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:87133606T>G ENST00000265724.3 - 29 4213 c.3796A>C c.(3796-3798)Atc>Ctc p.I1266L ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.I1202L NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 1266 ABC transporter 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GAAAAATAGATGCCTTTCTGT 0.443000 9 139 0 0 0.008291 0 0 FER1L6 654463 broad.mit.edu 37 8 125131932 125131932 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr8:125131932C>T ENST00000522917.1 + 41 5681 c.5475C>T c.(5473-5475)atC>atT p.I1825I FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.I1825I NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1825 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AAAAGTAcatcatcattgctt 0.483000 10 263 0 0 0.008291 0 0 FOXO1 2308 broad.mit.edu 37 13 41134738 41134738 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr13:41134738G>T ENST00000379561.5 - 2 1274 c.890C>A c.(889-891)gCa>gAa p.A297E NM_002015.3 NP_002006.2 Q12778 FOXO1_HUMAN forkhead box O1 297 anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 PAX7/FOXO1(197)|PAX3/FOXO1(749) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 20 Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815) GCCAGGGCTTGCAGGCCATTT 0.527000 10 103 0.000978159 0.00106231 0.010729 1 0 TTF2 8458 broad.mit.edu 37 1 117634030 117634030 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:117634030G>A ENST00000369466.3 + 16 2713 c.2669G>A c.(2668-2670)aGa>aAa p.R890K NM_003594.3 NP_003585.3 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase II 890 mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 50 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) CCATTCAGTAGAGGTAAGCTG 0.383000 8 107 0 0 0.006214 0 0 DOCK2 1794 broad.mit.edu 37 5 169188531 169188531 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:169188531T>A ENST00000256935.8 + 25 2536 c.2456T>A c.(2455-2457)cTg>cAg p.L819Q DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.L311Q NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 819 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGCCAACTCCTGTATGAGTTC 0.488000 9 508 0 0 0.006214 0 0 SYNJ1 8867 broad.mit.edu 37 21 34003562 34003562 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr21:34003562C>T ENST00000382491.3 - 28 4448 c.4324G>A c.(4324-4326)Gat>Aat p.D1442N SYNJ1_ENST00000433931.2_Missense_Mutation_p.D1528N|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.D1489N NM_001160306.1 NP_001153778.1 O43426 SYNJ1_HUMAN synaptojanin 1 1489 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 ACACCAAAATCCTCTTCTTCC 0.423000 47 269 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179434379 179434379 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:179434379C>A ENST00000589042.1 - 326 76704 c.76480G>T c.(76480-76482)Gac>Tac p.D25494Y TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D23853Y|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D16429Y|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D16621Y|TTN_ENST00000342992.6_Missense_Mutation_p.D22926Y|TTN_ENST00000359218.5_Missense_Mutation_p.D16554Y|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23853 Fibronectin type-III 85. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCAGGGACGTCAGCATGTTCT 0.368000 4 26 0.00909568 0.00951061 0.009096 1 0 CYP51A1 1595 broad.mit.edu 37 7 91763538 91763538 + Silent SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:91763538G>A ENST00000003100.8 - 1 306 c.141C>T c.(139-141)gtC>gtT p.V47V LRRD1_ENST00000422722.1_Intron|CYP51A1_ENST00000450723.1_Intron NM_000786.3 NP_000777.1 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, polypeptide 1 41 cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1) 10 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) GGATCAGGTAGACCAGGCTGA 0.672000 OREG0018160 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 31 0 0 0.004672 0 0 BMP5 653 broad.mit.edu 37 6 55739583 55739583 + Silent SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:55739583T>A ENST00000370830.3 - 1 779 c.81A>T c.(79-81)ggA>ggT p.G27G BMP5_ENST00000446683.2_Silent_p.G27G NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 27 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) CTCCCAAACCTCCTTTTGCAT 0.403000 7 556 0 0 0.004482 0 0 NR2E1 7101 broad.mit.edu 37 6 108501529 108501529 + Silent SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:108501529G>A ENST00000368986.4 + 6 1353 c.645G>A c.(643-645)ctG>ctA p.L215L NR2E1_ENST00000368983.3_Silent_p.L252L NM_003269.3 NP_003260.1 Q9Y466 NR2E1_HUMAN nuclear receptor subfamily 2, group E, member 1 215 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3) 30 all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637) BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689) TATGACAGCTGATGCTTTTGG 0.313000 11 107 0 0 0.010729 0 0 HEPH 9843 broad.mit.edu 37 X 65417599 65417599 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:65417599G>T ENST00000519389.1 + 10 1917 c.1738G>T c.(1738-1740)Ggt>Tgt p.G580C HEPH_ENST00000374727.3_Missense_Mutation_p.G529C|HEPH_ENST00000441993.2_Missense_Mutation_p.G529C|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000343002.2_Missense_Mutation_p.G526C|HEPH_ENST00000336279.5_Missense_Mutation_p.G259C Q9BQS7 HEPH_HUMAN hephaestin 526 Plastocyanin-like 4. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 CCCTCATGCCGGTCCCACTGC 0.527000 4 185 0.00116845 0.00125644 0.021553 1 0 GUCA2B 2981 broad.mit.edu 37 1 42620408 42620408 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:42620408C>A ENST00000372581.1 + 2 178 c.148C>A c.(148-150)Cag>Aag p.Q50K NM_007102.2 NP_009033.1 Q16661 GUC2B_HUMAN guanylate cyclase activator 2B (uroguanylin) 50 excretion extracellular region calcium sensitive guanylate cyclase activator activity breast(1)|large_intestine(2) 3 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CCTGGAGGCACAGTGGGCACC 0.642000 7 84 0.000157383 0.000175071 0.003080 1 0 SLC39A10 57181 broad.mit.edu 37 2 196573497 196573497 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:196573497C>T ENST00000409086.3 + 5 1779 c.1504C>T c.(1504-1506)Cta>Tta p.L502L SLC39A10_ENST00000359634.5_Silent_p.L502L|SLC39A10_ENST00000541054.1_Silent_p.L52L NM_001127257.1 NP_001120729.1 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), member 10 502 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) ACTTGTTGCTCTAGGAGGCAT 0.328000 22 187 0 0 0.016522 0 0 ATP7B 540 broad.mit.edu 37 13 52548417 52548417 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr13:52548417C>G ENST00000242839.4 - 2 1095 c.939G>C c.(937-939)agG>agC p.R313S ATP7B_ENST00000344297.5_Missense_Mutation_p.R313S|ATP7B_ENST00000400366.3_Intron|ATP7B_ENST00000448424.2_Missense_Mutation_p.R313S|ATP7B_ENST00000542656.1_Missense_Mutation_p.R281S|ATP7B_ENST00000400370.3_Missense_Mutation_p.R313S|ATP7B_ENST00000418097.2_Missense_Mutation_p.R313S|ATP7B_ENST00000482841.1_5'UTR NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 313 HMA 3. ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CCTCGATAGCCCTCTGCAGAG 0.507000 Wilson disease 8 117 0 0 0.008291 0 0 COL22A1 169044 broad.mit.edu 37 8 139737681 139737681 + Silent SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr8:139737681G>A ENST00000303045.6 - 24 2588 c.2142C>T c.(2140-2142)ggC>ggT p.G714G COL22A1_ENST00000435777.1_Silent_p.G714G NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 714 Collagen-like 5.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GTCCTGGAGGGCCCTGTAGAG 0.577000 HNSCC(7;0.00092) 25 103 0 0 0.008361 0 0 CACNA1G 8913 broad.mit.edu 37 17 48699064 48699064 + Missense_Mutation SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:48699064T>C ENST00000354983.4 + 33 6239 c.5867T>C c.(5866-5868)aTt>aCt p.I1956T CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000359106.5_Missense_Mutation_p.I1990T|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000502264.1_Missense_Mutation_p.I1919T|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000507336.1_Missense_Mutation_p.I1979T|CACNA1G_ENST00000507896.1_Intron NM_198396.2 NP_938406.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1990 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) ACGTCAGAGATTGTGTCTGAA 0.522000 3 14 0 0 0.009096 0 0 STAB2 55576 broad.mit.edu 37 12 104099498 104099498 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:104099498C>A ENST00000388887.2 + 37 4193 c.3989C>A c.(3988-3990)aCc>aAc p.T1330N NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1330 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TGTGTGAGAACCGTCATTGTG 0.408000 21 90 6.21321e-17 8.63111e-17 0.016522 1 0 DET1 55070 broad.mit.edu 37 15 89074105 89074105 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr15:89074105C>A ENST00000564406.1 - 3 1025 c.865G>T c.(865-867)Gac>Tac p.D289Y DET1_ENST00000444300.1_Missense_Mutation_p.D289Y|DET1_ENST00000268148.8_Missense_Mutation_p.D278Y|DET1_ENST00000558413.1_3'UTR NM_017996.3 NP_060466.2 Q7L5Y6 DET1_HUMAN de-etiolated homolog 1 (Arabidopsis) 278 nucleus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) GTCTGACTGTCCCGCTGTACC 0.527000 7 34 5.18039e-06 6.06468e-06 0.003080 1 0 OR4K17 390436 broad.mit.edu 37 14 20586168 20586168 + Silent SNP T T G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr14:20586168T>G ENST00000315543.4 + 1 603 c.603T>G c.(601-603)ggT>ggG p.G201G NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) CCTTTTGTGGTCCCAATGTGG 0.433000 11 523 0 0 0.010729 0 0 SCRN3 79634 broad.mit.edu 37 2 175292571 175292571 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:175292571A>T ENST00000272732.6 + 8 1305 c.1223A>T c.(1222-1224)aAa>aTa p.K408I SCRN3_ENST00000409673.3_Missense_Mutation_p.K401I|SCRN3_ENST00000548921.1_3'UTR NM_001193528.1|NM_024583.4 NP_001180457.1|NP_078859.2 Q0VDG4 SCRN3_HUMAN secernin 3 408 proteolysis dipeptidase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3) 13 OV - Ovarian serous cystadenocarcinoma(117;0.229) CAGTGTACAAAAGATGAAATT 0.328000 4 32 0 0 0.009096 0 0 GLYAT 10249 broad.mit.edu 37 11 58478151 58478151 + Missense_Mutation SNP A A G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:58478151A>G ENST00000344743.3 - 5 541 c.400T>C c.(400-402)Tat>Cat p.Y134H GLYAT_ENST00000529732.1_Missense_Mutation_p.Y134H|GLYAT_ENST00000278400.3_Missense_Mutation_p.Y134H NM_201648.2 NP_964011.2 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase 134 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) GCTGCCATATAGAGAATGCGT 0.418000 25 192 0 0 0.023175 0 0 KRTAP15-1 254950 broad.mit.edu 37 21 31812752 31812752 + Missense_Mutation SNP A A G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr21:31812752A>G ENST00000334067.3 + 1 156 c.107A>G c.(106-108)tAt>tGt p.Y36C NM_181623.1 NP_853654.1 Q3LI76 KR151_HUMAN keratin associated protein 15-1 36 intermediate filament kidney(1)|large_intestine(3)|lung(6)|skin(1) 11 AATGCCATCTATTCTCCAAAT 0.493000 9 182 0 0 0.004482 0 0 TNFRSF8 943 broad.mit.edu 37 1 12164497 12164497 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:12164497C>T ENST00000263932.2 + 4 552 c.330C>T c.(328-330)ccC>ccT p.P110P TNFRSF8_ENST00000417814.2_5'UTR NM_001243.3 NP_001234.2 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, member 8 110 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) AATGTCGACCCGGCATGTTCT 0.577000 4 58 0 0 0.009096 0 0 ARHGAP6 395 broad.mit.edu 37 X 11162018 11162018 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:11162018C>A ENST00000380718.1 - 11 3130 c.2258G>T c.(2257-2259)cGg>cTg p.R753L ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000303025.6_Intron NM_006125.2 NP_006116.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 0 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 AGAGAAGGTCCGAAGAGCCCC 0.532000 OREG0019666 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 523 1.99824e-07 2.46176e-07 0.004990 1 0 POLR1A 25885 broad.mit.edu 37 2 86258661 86258661 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:86258661C>T ENST00000263857.6 - 30 4748 c.4370G>A c.(4369-4371)cGa>cAa p.R1457Q POLR1A_ENST00000409681.1_Missense_Mutation_p.R1457Q O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 1457 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 TTGGGTCTTTCGAGCACCTTC 0.592000 27 459 0 0 0.009535 0 0 USP7 7874 broad.mit.edu 37 16 9009138 9009138 + Nonsense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr16:9009138G>A ENST00000344836.4 - 10 1249 c.1051C>T c.(1051-1053)Cag>Tag p.Q351* USP7_ENST00000535863.1_Nonsense_Mutation_p.Q252*|USP7_ENST00000381886.4_Nonsense_Mutation_p.Q335* NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 351 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 ATACTTAGCTGGATATCATAA 0.308000 4 160 0 0 0.021553 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73186481 73186481 + Missense_Mutation SNP T T G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:73186481T>G ENST00000286657.4 - 7 1088 c.1052A>C c.(1051-1053)gAc>gCc p.D351A NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 351 Peptidase M12B. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AATTGCATGGTCATGGTGTTC 0.443000 7 195 0 0 0.003080 0 0 GPR4 2828 broad.mit.edu 37 19 46094980 46094980 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:46094980G>T ENST00000323040.4 - 2 1089 c.145C>A c.(145-147)Cgc>Agc p.R49S OPA3_ENST00000544371.1_Intron NM_005282.2 NP_005273.1 P46093 GPR4_HUMAN G protein-coupled receptor 4 49 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) AGCTCGTTGCGCTGTTGCACC 0.622000 5 52 0.00116845 0.00125644 0.021553 1 0 TTN 7273 broad.mit.edu 37 2 179610805 179610805 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:179610805C>T ENST00000360870.5 - 46 16544 c.16322G>A c.(16321-16323)cGa>cAa p.R5441Q TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8948 Ig-like 35. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R5441Q(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACAGACATTTCGAATTTTAAG 0.408000 34 459 0 0 0.015359 0 0 IMPG2 50939 broad.mit.edu 37 3 100992538 100992538 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:100992538C>A ENST00000193391.7 - 7 902 c.715G>T c.(715-717)Ggt>Tgt p.G239C NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 239 SEA 1. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 ATCTGTTCACCTGCTGGTTTT 0.393000 10 88 0.010729 0.011205 0.010729 1 0 RYR2 6262 broad.mit.edu 37 1 237886547 237886547 + Silent SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:237886547T>C ENST00000366574.2 + 74 10991 c.10674T>C c.(10672-10674)ctT>ctC p.L3558L RYR2_ENST00000360064.6_Silent_p.L3556L|RYR2_ENST00000542537.1_Silent_p.L3542L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3558 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) CAAATGTGCTTTTTCATCTTG 0.353000 5 121 0 0 0.021553 0 0 CABIN1 23523 broad.mit.edu 37 22 24445599 24445599 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr22:24445599C>T ENST00000398319.2 + 7 958 c.573C>T c.(571-573)taC>taT p.Y191Y CABIN1_ENST00000405822.2_Silent_p.Y191Y|CABIN1_ENST00000263119.5_Silent_p.Y191Y NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 191 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 ATTGCCGGTACAGCAAAGGGC 0.502000 6 205 0 0 0.003080 0 0 POM121L12 285877 broad.mit.edu 37 7 53104216 53104216 + Silent SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:53104216C>A ENST00000408890.4 + 1 868 c.852C>A c.(850-852)gcC>gcA p.A284A NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 284 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 TCTCCTTCGCCCTCGAGGTCA 0.622000 7 78 0.00198382 0.00212535 0.001984 1 0 NCKAP5 344148 broad.mit.edu 37 2 133539801 133539801 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:133539801G>C ENST00000409261.1 - 14 4956 c.4583C>G c.(4582-4584)tCc>tGc p.S1528C NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S1528C NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1528 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TTTGGTTTTGGAGATGTCCAT 0.418000 20 105 0 0 0.010504 0 0 FLG 2312 broad.mit.edu 37 1 152280985 152280985 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:152280985G>C ENST00000368799.1 - 3 6412 c.6377C>G c.(6376-6378)tCc>tGc p.S2126C FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2126 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGAGTGCCTGGAGCTGTCTTG 0.572000 Ichthyosis 56 189 0 0 0.014410 0 0 TEX14 56155 broad.mit.edu 37 17 56659003 56659003 + Missense_Mutation SNP G G A rs142618829 TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:56659003G>A ENST00000389934.3 - 20 3377 c.3260C>T c.(3259-3261)tCc>tTc p.S1087F TEX14_ENST00000349033.5_Intron|TEX14_ENST00000240361.8_Missense_Mutation_p.S1093F NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 1093 cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGCAGTCGAGGAGTAAAAATA 0.363000 7 89 0 0 0.004482 0 0 BLK 640 broad.mit.edu 37 8 11418838 11418838 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr8:11418838C>A ENST00000259089.4 + 11 1649 c.1057C>A c.(1057-1059)Cgc>Agc p.R353S BLK_ENST00000529894.1_Missense_Mutation_p.R282S NM_001715.2 NP_001706.2 P51451 BLK_HUMAN B lymphoid tyrosine kinase 353 Protein kinase. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) ATACATTGAGCGCATGAATTC 0.577000 5 7 0.00116845 0.00125644 0.021553 1 0 NIPBL 25836 broad.mit.edu 37 5 37006594 37006594 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:37006594G>A ENST00000282516.8 + 17 4490 c.3991G>A c.(3991-3993)Gat>Aat p.D1331N NIPBL_ENST00000448238.2_Missense_Mutation_p.D1331N NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1331 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GTACATTGAGGATGTAATTGA 0.358000 14 65 0 0 0.016723 0 0 MAP7D2 256714 broad.mit.edu 37 X 20074798 20074798 + Splice_Site SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:20074798C>A ENST00000379651.3 - 4 502 c.484_splice c.e4+1 p.A162_splice MAP7D2_ENST00000452324.3_Splice_Site_p.A118_splice|MAP7D2_ENST00000443379.3_Splice_Site_p.A162_splice|MAP7D2_ENST00000543767.1_Splice_Site_p.G33_splice|MAP7D2_ENST00000379643.5_Splice_Site_p.A162_splice NM_152780.3 NP_689993.2 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 162 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 CTACACTCACCATCATGTCCT 0.587000 4 94 0.000602214 0.000657304 0.014758 1 0 MYOC 4653 broad.mit.edu 37 1 171605559 171605559 + Missense_Mutation SNP A A G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:171605559A>G ENST00000037502.5 - 3 1080 c.1021T>C c.(1021-1023)Tcc>Ccc p.S341P NM_000261.1 NP_000252.1 Q99972 MYOC_HUMAN myocilin, trabecular meshwork inducible glucocorticoid response 341 Olfactomedin-like. S -> P (in GLC1A). anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2) 28 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) ACAGTTCTGGACTCAGCGCCC 0.537000 9 119 0 0 0.010729 0 0 FAM13C 220965 broad.mit.edu 37 10 61014147 61014147 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:61014147G>C ENST00000373867.3 - 12 1509 c.1044C>G c.(1042-1044)atC>atG p.I348M FAM13C_ENST00000422313.2_Missense_Mutation_p.I431M|FAM13C_ENST00000435852.2_Missense_Mutation_p.I431M|FAM13C_ENST00000373868.2_Missense_Mutation_p.I431M|FAM13C_ENST00000419214.2_Missense_Mutation_p.I333M|FAM13C_ENST00000442566.3_Missense_Mutation_p.I452M|FAM13C_ENST00000468840.2_Missense_Mutation_p.I348M|FAM13C_ENST00000277705.6_Missense_Mutation_p.I452M NM_001166698.1 NP_001160170.1 Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 431 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 AGATTTGCTTGATAATTCTGT 0.358000 39 546 0 0 0.014410 0 0 TESPA1 9840 broad.mit.edu 37 12 55356979 55356979 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:55356979A>T ENST00000524622.1 - 7 950 c.289T>A c.(289-291)Ttc>Atc p.F97I TESPA1_ENST00000316577.8_Missense_Mutation_p.F235I|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000532804.1_Missense_Mutation_p.F97I|TESPA1_ENST00000531122.1_Missense_Mutation_p.F97I|TESPA1_ENST00000449076.1_Missense_Mutation_p.F235I NM_001261844.1|NM_014796.2 NP_001248773.1|NP_055611.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 235 TAGAGACAGAAGAAGGCATCA 0.463000 18 66 0 0 0.008871 0 0 IMPG2 50939 broad.mit.edu 37 3 101038618 101038618 + Silent SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:101038618G>A ENST00000193391.7 - 2 331 c.144C>T c.(142-144)ctC>ctT p.L48L NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 48 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CTTCAGGCAGGAGAAAAGAAA 0.418000 48 275 0 0 0.014410 0 0 ACSL1 2180 broad.mit.edu 37 4 185681563 185681563 + Missense_Mutation SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:185681563T>C ENST00000515030.1 - 18 2055 c.1730A>G c.(1729-1731)tAc>tGc p.Y577C ACSL1_ENST00000437665.3_Missense_Mutation_p.Y406C|ACSL1_ENST00000281455.2_Missense_Mutation_p.Y577C|ACSL1_ENST00000454703.2_Missense_Mutation_p.Y406C|ACSL1_ENST00000507295.1_Missense_Mutation_p.Y543C|ACSL1_ENST00000504342.1_Missense_Mutation_p.Y577C|ACSL1_ENST00000513317.1_Missense_Mutation_p.Y577C P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 577 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2) 38 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) ACTTCGCATGTAGATATTTTC 0.438000 121 612 0 0 0.014410 0 0 OR5L2 26338 broad.mit.edu 37 11 55595398 55595398 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:55595398A>T ENST00000378397.1 + 1 704 c.704A>T c.(703-705)cAc>cTc p.H235L NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) GAGAGCAGGCACAAAGCTTTC 0.493000 HNSCC(27;0.073) 41 242 0 0 0.009718 0 0 PIK3R5 23533 broad.mit.edu 37 17 8792182 8792182 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:8792182C>T ENST00000447110.1 - 10 1046 c.922G>A c.(922-924)Gaa>Aaa p.E308K PIK3R5_ENST00000584803.1_Missense_Mutation_p.E308K|PIK3R5_ENST00000581552.1_Missense_Mutation_p.E308K NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 308 DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121). platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 AGCTCCTGTTCCTTGAGCAGG 0.587000 5 4 0 0 0.003080 0 0 FAM86EP 348926 broad.mit.edu 37 4 3952865 3952865 + RNA SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:3952865C>A ENST00000281228.8 - 0 242 FAM86EP_ENST00000313946.8_RNA CCATAACTGACCTTTTTCATG 0.557000 3 29 0.004672 0.0049325 0.004672 1 0 CACNA1C 775 broad.mit.edu 37 12 2714278 2714278 + Nonsense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:2714278C>T ENST00000399655.1 + 23 3257 c.2992C>T c.(2992-2994)Cga>Tga p.R998* CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000480911.1_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.R998*|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000347598.4_Nonsense_Mutation_p.R1018*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.R1018*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.R1023* NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1018 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GAAGATCTTGCGAGTCCTGCG 0.557000 20 177 0 0 0.016522 0 0 SEMA3A 10371 broad.mit.edu 37 7 83606484 83606484 + Nonsense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:83606484C>A ENST00000265362.3 - 15 1995 c.1681G>T c.(1681-1683)Gga>Tga p.G561* SEMA3A_ENST00000436949.1_Nonsense_Mutation_p.G561* NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 561 axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 AGTGGGTCTCCATTTCTTATA 0.353000 41 144 6.08268e-21 8.61466e-21 0.014410 1 0 GZMA 3001 broad.mit.edu 37 5 54403954 54403954 + Splice_Site SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:54403954T>A ENST00000274306.6 + 4 394 c.357_splice c.e4-1 p.L120_splice NM_006144.3 NP_006135.1 P12544 GRAA_HUMAN granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) 120 Peptidase S1. cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis extracellular region|immunological synapse|nucleus protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 25 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) TTCCAACAGCTGATGGAAAAA 0.338000 5 65 0 0 0.021553 0 0 OR10A5 144124 broad.mit.edu 37 11 6867339 6867339 + Silent SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:6867339G>T ENST00000299454.4 + 1 457 c.426G>T c.(424-426)cgG>cgT p.R142R OR10A5_ENST00000379831.2_Silent_p.R146R Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AAAGGACACGGGCCAAACTGG 0.537000 5 151 0.000274275 0.00030355 0.004482 1 0 ADAMTS20 80070 broad.mit.edu 37 12 43896101 43896101 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:43896101G>T ENST00000389420.3 - 4 720 c.721C>A c.(721-723)Cca>Aca p.P241T ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P241T NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 241 proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TCTTTCAATGGTACATTTTTT 0.328000 7 126 2.0095e-06 2.39435e-06 0.001984 1 0 PTBP2 58155 broad.mit.edu 37 1 97235391 97235391 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:97235391G>T ENST00000236228.6 + 4 330 c.248G>T c.(247-249)gGt>gTt p.G83V PTBP2_ENST00000394184.3_Missense_Mutation_p.G94V|PTBP2_ENST00000426398.2_Missense_Mutation_p.G83V|PTBP2_ENST00000370198.1_Missense_Mutation_p.G83V|PTBP2_ENST00000370197.1_Missense_Mutation_p.G83V|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000541987.1_Missense_Mutation_p.G52V NM_021190.2 NP_067013.1 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 83 RRM 1. nucleotide binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1) 26 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) TTACCTTTTGGTAAGGTGACC 0.383000 23 230 3.73808e-20 5.2684e-20 0.027356 1 0 NR2F1 7025 broad.mit.edu 37 5 92923849 92923849 + Silent SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:92923849C>A ENST00000327111.3 + 2 2377 c.690C>A c.(688-690)gcC>gcA p.A230A NM_005654.4 NP_005645.1 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 230 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 21 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) TCTTCAGCGCCGTCGAGTGGG 0.637000 6 38 0.000157383 0.000175071 0.003080 1 0 TNN 63923 broad.mit.edu 37 1 175092570 175092570 + Nonsense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:175092570G>A ENST00000239462.4 + 12 2798 c.2685G>A c.(2683-2685)tgG>tgA p.W895* NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 895 Fibronectin type-III 8. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TGACTGACTGGGTGACGGAGA 0.493000 18 320 0 0 0.012319 0 0 RYR3 6263 broad.mit.edu 37 15 33954735 33954735 + Silent SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr15:33954735C>A ENST00000389232.4 + 35 5074 c.5004C>A c.(5002-5004)tcC>tcA p.S1668S RYR3_ENST00000415757.3_Silent_p.S1668S NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1668 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCAGGTTCTCCACCCCTTGCT 0.577000 10 54 4.3838e-07 5.36277e-07 0.016723 1 0 NIT2 56954 broad.mit.edu 37 3 100058772 100058772 + Silent SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:100058772C>A ENST00000394140.3 + 3 331 c.240C>A c.(238-240)ctC>ctA p.L80L NM_020202.4 NP_064587.1 Q9NQR4 NIT2_HUMAN nitrilase family, member 2 80 CN hydrolase. nitrogen compound metabolic process omega-amidase activity breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 GCATATATCTCATTGGAGGTA 0.428000 18 126 2.37509e-13 3.20729e-13 0.010504 1 0 POTEE 445582 broad.mit.edu 37 2 131976449 131976449 + Silent SNP C C A rs142484775 TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:131976449C>A ENST00000356920.5 + 1 568 c.474C>A c.(472-474)atC>atA p.I158I PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Silent_p.I158I|PLEKHB2_ENST00000303908.3_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 158 ATP binding p.I158I(1) AGGATCTCATCGTCATGCTCA 0.577000 11 132 1.5842e-08 2.0085e-08 0.016723 1 0 GRPEL2 134266 broad.mit.edu 37 5 148730755 148730755 + Silent SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:148730755A>T ENST00000329271.3 + 4 698 c.588A>T c.(586-588)gcA>gcT p.A196A RP11-394O4.4_ENST00000521295.1_RNA|GRPEL2_ENST00000507562.1_3'UTR|GRPEL2_ENST00000416916.2_3'UTR NM_152407.3 NP_689620.2 Q8TAA5 GRPE2_HUMAN GrpE-like 2, mitochondrial (E. coli) 196 protein folding mitochondrial matrix adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCACCGTGGCATTAGTAAGAC 0.527000 19 160 0 0 0.008871 0 0 SLC22A10 387775 broad.mit.edu 37 11 63057976 63057976 + Silent SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:63057976A>T ENST00000332793.6 + 1 341 c.339A>T c.(337-339)acA>acT p.T113T SLC22A10_ENST00000526800.1_Silent_p.T61T|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000544661.1_5'UTR NM_001039752.3 NP_001034841.3 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 113 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 AGGCAGACACAGAACCCTGTG 0.493000 10 191 0 0 0.024245 0 0 LCLAT1 253558 broad.mit.edu 37 2 30791025 30791025 + Missense_Mutation SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:30791025T>C ENST00000309052.4 + 6 934 c.725T>C c.(724-726)gTa>gCa p.V242A LCLAT1_ENST00000540623.1_Missense_Mutation_p.V204A|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000319406.4_Missense_Mutation_p.V242A|LCLAT1_ENST00000379509.3_Missense_Mutation_p.V204A|LCLAT1_ENST00000359433.1_Missense_Mutation_p.V242A NM_182551.3 NP_872357.2 Q6UWP7 LCLT1_HUMAN lysocardiolipin acyltransferase 1 242 multicellular organismal development|phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2) 19 ACTTTTGTGGTAGACCGTCTA 0.328000 7 137 0 0 0.004482 0 0 OR11H4 390442 broad.mit.edu 37 14 20711551 20711551 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr14:20711551C>A ENST00000315409.2 + 1 654 c.601C>A c.(601-603)Cca>Aca p.P201T NM_001004479.1 NP_001004479.1 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, member 4 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 29 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) ATCCTGTGCCCCAGCTCCCAT 0.428000 40 197 5.04308e-16 6.96121e-16 0.025465 1 0 ZNF287 57336 broad.mit.edu 37 17 16456113 16456113 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:16456113C>T ENST00000395824.1 - 6 1960 c.1343G>A c.(1342-1344)gGa>gAa p.G448E ZNF287_ENST00000395825.3_Missense_Mutation_p.G448E Q9HBT7 ZN287_HUMAN zinc finger protein 287 441 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) GGGTTTCTCTCCAGTATGAAT 0.443000 8 204 0 0 0.004482 0 0 ATP13A5 344905 broad.mit.edu 37 3 193032855 193032855 + Silent SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:193032855C>A ENST00000342358.4 - 18 2181 c.2064G>T c.(2062-2064)ctG>ctT p.L688L NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 688 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) TGAGAAGTCCCAGAAATGTTA 0.373000 31 190 2.47511e-08 3.11534e-08 0.008361 1 0 NLRP5 126206 broad.mit.edu 37 19 56515383 56515383 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:56515383G>T ENST00000390649.3 + 2 364 c.364G>T c.(364-366)Gcc>Tcc p.A122S NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 122 DAPIN. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) AGCATCGCTGGCCTGGGCTAC 0.483000 9 40 0.000442599 0.000487363 0.006214 1 0 SATL1 340562 broad.mit.edu 37 X 84363343 84363343 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:84363343G>A ENST00000509231.1 - 1 711 c.632C>T c.(631-633)cCa>cTa p.P211L SATL1_ENST00000332921.5_Missense_Mutation_p.P24L|SATL1_ENST00000395409.3_Missense_Mutation_p.P24L Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 24 Gln-rich. N-acetyltransferase activity NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1) 29 ACTCATGTCTGGGTGGCTTGG 0.552000 5 105 0 0 0.014758 0 0 ATP13A2 23400 broad.mit.edu 37 1 17323644 17323644 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:17323644C>T ENST00000452699.1 - 12 1240 c.1051G>A c.(1051-1053)Gca>Aca p.A351T RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.A351T|ATP13A2_ENST00000326735.8_Missense_Mutation_p.A356T|ATP13A2_ENST00000502860.1_5'UTR NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 356 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) TCCGGCAGTGCCGTCTTCAGC 0.632000 3 38 0 0 0.004672 0 0 PRSS36 146547 broad.mit.edu 37 16 31155149 31155149 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr16:31155149C>A ENST00000268281.4 - 7 788 c.730G>T c.(730-732)Ggg>Tgg p.G244W PRSS36_ENST00000418068.2_Missense_Mutation_p.G244W|PRSS36_ENST00000569305.1_Missense_Mutation_p.G244W NM_001258290.1|NM_173502.4 NP_001245219.1|NP_775773.2 Q5K4E3 POLS2_HUMAN protease, serine, 36 244 Peptidase S1 1. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 AGGGGCCCCCCAGAGTCACCC 0.592000 4 21 3.59834e-05 4.09158e-05 0.021553 1 0 ZNF287 57336 broad.mit.edu 37 17 16456543 16456543 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:16456543C>T ENST00000395824.1 - 6 1530 c.913G>A c.(913-915)Gat>Aat p.D305N ZNF287_ENST00000395825.3_Missense_Mutation_p.D305N Q9HBT7 ZN287_HUMAN zinc finger protein 287 298 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) TCTGTAGGATCATATTCTTGT 0.328000 5 244 0 0 0.014758 0 0 RIMS2 9699 broad.mit.edu 37 8 104897965 104897965 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr8:104897965G>T ENST00000507740.1 + 2 798 c.562G>T c.(562-564)Gat>Tat p.D188Y RIMS2_ENST00000406091.3_Missense_Mutation_p.D380Y|RIMS2_ENST00000436393.2_Missense_Mutation_p.D158Y|RIMS2_ENST00000262231.10_Missense_Mutation_p.D188Y|RIMS2_ENST00000522174.1_3'UTR NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 411 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding p.D188N(1)|p.D416N(1)|p.D158N(1) NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TGATCTGGAAGATTCCAGGAT 0.443000 HNSCC(12;0.0054) 17 99 5.35267e-07 6.52965e-07 0.007413 1 0 RNF144A 9781 broad.mit.edu 37 2 7164541 7164541 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:7164541G>T ENST00000320892.6 + 7 993 c.551G>T c.(550-552)cGc>cTc p.R184L RNF144A_ENST00000467276.1_3'UTR NM_014746.3 NP_055561.2 P50876 R144A_HUMAN ring finger protein 144A 184 Golgi apparatus|integral to membrane ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1) 25 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) CCCATCAAGCGCTGCCCCAAG 0.572000 3 54 0.004672 0.0049325 0.004672 1 0 PRDM9 56979 broad.mit.edu 37 5 23527714 23527714 + Silent SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:23527714G>T ENST00000296682.3 + 11 2699 c.2517G>T c.(2515-2517)cgG>cgT p.R839R NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 839 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AGTGTGGGCGGGGCTTTCGCA 0.592000 HNSCC(3;0.000094) 51 260 7.06795e-37 1.03639e-36 0.014410 1 0 CYP4V2 285440 broad.mit.edu 37 4 187118744 187118744 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:187118744G>T ENST00000378802.4 + 5 966 c.662G>T c.(661-663)cGt>cTt p.R221L NM_207352.3 NP_997235.3 Q6ZWL3 CP4V2_HUMAN cytochrome P450, family 4, subfamily V, polypeptide 2 221 response to stimulus|visual perception 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 p.R221H(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2) 20 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17) GAGTATGTCCGTGCAGTTTAT 0.333000 7 113 1.06961e-07 1.32147e-07 0.003080 1 0 DNAH11 8701 broad.mit.edu 37 7 21742342 21742342 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:21742342G>T ENST00000328843.6 + 38 6247 c.6216G>T c.(6214-6216)tgG>tgT p.W2072C DNAH11_ENST00000409508.3_Missense_Mutation_p.W2065C Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2072 AAA 1 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 ATTACGACTGGGGACTTCGTG 0.378000 Kartagener syndrome 7 76 5.4927e-09 7.0046e-09 0.004482 1 0 FERD3L 222894 broad.mit.edu 37 7 19184768 19184768 + Missense_Mutation SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:19184768T>C ENST00000275461.3 - 1 276 c.218A>G c.(217-219)gAc>gGc p.D73G AC003986.5_ENST00000452700.1_RNA NM_152898.2 NP_690862.1 Q96RJ6 FER3L_HUMAN Fer3-like bHLH transcription factor 73 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 35 ctcttctccgtccccctggtc 0.647000 5 108 0 0 0.014758 0 0 ZBTB38 253461 broad.mit.edu 37 3 141162117 141162117 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:141162117G>A ENST00000514251.1 + 4 1166 c.887G>A c.(886-888)aGa>aAa p.R296K ZBTB38_ENST00000321464.5_Missense_Mutation_p.R297K|ZBTB38_ENST00000441582.2_Missense_Mutation_p.R296K Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 296 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 41 AATCAAGAAAGAAGTCCACAA 0.428000 13 306 0 0 0.019004 0 0 LRP1B 53353 broad.mit.edu 37 2 140997090 140997090 + Missense_Mutation SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:140997090T>C ENST00000389484.3 - 88 14307 c.13336A>G c.(13336-13338)Atc>Gtc p.I4446V NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4446 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GGCACAATGATGGCAATGCTT 0.308000 TSP Lung(27;0.18) 7 63 0 0 0.003080 0 0 CENPO 79172 broad.mit.edu 37 2 25040609 25040609 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:25040609C>T ENST00000380834.2 + 7 1262 c.837C>T c.(835-837)ccC>ccT p.P279P CENPO_ENST00000260662.1_Silent_p.P279P|CENPO_ENST00000473706.1_Silent_p.P273P|CENPO_ENST00000395845.2_3'UTR Q9BU64 CENPO_HUMAN centromere protein O 279 cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) GTACGAAGCCCTTGCATCAAG 0.413000 3 57 0 0 0.004672 0 0 ITIH5 80760 broad.mit.edu 37 10 7697622 7697622 + Missense_Mutation SNP G G A rs139355305 TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:7697622G>A ENST00000256861.6 - 2 185 c.107C>T c.(106-108)cCg>cTg p.P36L ITIH5_ENST00000397146.2_Missense_Mutation_p.P36L|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.P36L NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 36 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 GACTTGCCTCGGGACCCTGAG 0.403000 5 63 0 0 0.003080 0 0 ZFP42 132625 broad.mit.edu 37 4 188923993 188923993 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:188923993C>G ENST00000326866.4 + 4 440 c.32C>G c.(31-33)aCa>aGa p.T11R ZFP42_ENST00000509524.1_Missense_Mutation_p.T11R NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 11 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) CGGGCAAAGACAAGACACCAG 0.537000 14 86 0 0 0.004990 0 0 COL4A2 1284 broad.mit.edu 37 13 111134907 111134907 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr13:111134907G>A ENST00000360467.5 + 32 3109 c.2803G>A c.(2803-2805)Gga>Aga p.G935R NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 935 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) AGGCATGCCTGGACTCAAAGG 0.512000 5 142 0 0 0.014758 0 0 BSX 390259 broad.mit.edu 37 11 122850098 122850098 + Silent SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:122850098G>T ENST00000343035.2 - 2 378 c.330C>A c.(328-330)cgC>cgA p.R110R NM_001098169.1 NP_001091639.1 Q3C1V8 BSH_HUMAN brain-specific homeobox 110 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 10 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) GGGCTTTGCGGCGGCGGCAGT 0.652000 12 45 3.41278e-10 4.44325e-10 0.004990 1 0 TCP11L2 255394 broad.mit.edu 37 12 106715430 106715430 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:106715430G>C ENST00000546625.1 + 5 740 c.581G>C c.(580-582)cGa>cCa p.R194P TCP11L2_ENST00000552690.1_3'UTR|TCP11L2_ENST00000299045.3_Missense_Mutation_p.R194P|TCP11L2_ENST00000547153.1_Missense_Mutation_p.R194P Q8N4U5 T11L2_HUMAN t-complex 11, testis-specific-like 2 194 p.R194Q(1) endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2) 15 GCTCCCGTGCGAGATAATGAT 0.483000 7 108 0 0 0.003080 0 0 ZBTB40 9923 broad.mit.edu 37 1 22834577 22834577 + Missense_Mutation SNP A A C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:22834577A>C ENST00000404138.1 + 8 1955 c.1444A>C c.(1444-1446)Att>Ctt p.I482L ZBTB40_ENST00000374651.4_Missense_Mutation_p.I370L|ZBTB40_ENST00000375647.4_Missense_Mutation_p.I482L NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 482 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) AGACAACCAGATTTTATTAAA 0.428000 3 102 0 0 0.021553 0 0 SYNJ1 8867 broad.mit.edu 37 21 34003756 34003756 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr21:34003756G>A ENST00000382491.3 - 28 4254 c.4130C>T c.(4129-4131)tCa>tTa p.S1377L SYNJ1_ENST00000433931.2_Missense_Mutation_p.S1463L|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.S1424L NM_001160306.1 NP_001153778.1 O43426 SYNJ1_HUMAN synaptojanin 1 1424 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 AGTTGCCTCTGATTCTTCAGA 0.463000 12 66 0 0 0.013537 0 0 UBC 7316 broad.mit.edu 37 12 125397091 125397091 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:125397091C>G ENST00000536769.1 - 1 2803 c.1227G>C c.(1225-1227)aaG>aaC p.K409N UBC_ENST00000339647.5_Missense_Mutation_p.K409N|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Missense_Mutation_p.K333N P0CG48 UBC_HUMAN ubiquitin C 409 Ubiquitin-like 6. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TGTCTTGGATCTTTGCCTTGA 0.522000 10 200 0 0 0.020292 0 0 LTN1 26046 broad.mit.edu 37 21 30319883 30319883 + Silent SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr21:30319883T>A ENST00000361371.4 - 19 3540 c.3390A>T c.(3388-3390)ctA>ctT p.L1130L LTN1_ENST00000389194.2_Silent_p.L1176L NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 1130 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 AAAATGGACATAGACTTTGAA 0.318000 7 16 0 0 0.001984 0 0 ATP7B 540 broad.mit.edu 37 13 52548394 52548394 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr13:52548394C>T ENST00000242839.4 - 2 1118 c.962G>A c.(961-963)gGg>gAg p.G321E ATP7B_ENST00000344297.5_Missense_Mutation_p.G321E|ATP7B_ENST00000400366.3_Intron|ATP7B_ENST00000448424.2_Missense_Mutation_p.G321E|ATP7B_ENST00000542656.1_Missense_Mutation_p.G289E|ATP7B_ENST00000400370.3_Missense_Mutation_p.G321E|ATP7B_ENST00000418097.2_Missense_Mutation_p.G321E|ATP7B_ENST00000482841.1_5'UTR NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 321 HMA 3. ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) TTTAAAATTCCCAGGTGGAAG 0.517000 Wilson disease 15 100 0 0 0.004990 0 0 COMMD3-BMI1 100532731 broad.mit.edu 37 10 22606899 22606899 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:22606899C>T ENST00000602390.1 + 2 235 c.226C>T c.(226-228)Cac>Tac p.H76Y COMMD3_ENST00000483684.1_3'UTR|COMMD3-BMI1_ENST00000463409.2_3'UTR|COMMD3_ENST00000376836.3_Missense_Mutation_p.H76Y NM_001204062.1 NP_001190991.1 P35226 BMI1_HUMAN 0 hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex RING-like zinc finger domain binding|zinc ion binding GGCAGGAAAGCACCGAGCTGA 0.328000 5 31 0 0 0.014758 0 0 FAM71C 196472 broad.mit.edu 37 12 100042412 100042412 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:100042412C>A ENST00000324341.1 + 1 882 c.460C>A c.(460-462)Cct>Act p.P154T ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron NM_153364.3 NP_699195.1 Q8NEG0 FA71C_HUMAN family with sequence similarity 71, member C 154 breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) TCAGCTGTGTCCTCCATCGGA 0.473000 4 112 0.014758 0.0153392 0.014758 1 0 FCAR 2204 broad.mit.edu 37 19 55399394 55399394 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:55399394C>T ENST00000355524.3 + 4 392 c.382C>T c.(382-384)Ctc>Ttc p.L128F FCAR_ENST00000469767.1_Missense_Mutation_p.L128F|FCAR_ENST00000353758.4_Missense_Mutation_p.L19F|FCAR_ENST00000345937.4_Intron|FCAR_ENST00000391723.3_Missense_Mutation_p.L116F|FCAR_ENST00000359272.4_Missense_Mutation_p.L116F|FCAR_ENST00000391724.3_Missense_Mutation_p.L116F|FCAR_ENST00000391725.3_Missense_Mutation_p.L128F|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000482092.2_3'UTR NM_002000.2 NP_001991.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 128 immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) CAAACCCTTCCTCTCTGCAGA 0.413000 9 60 0 0 0.008291 0 0 ABCA12 26154 broad.mit.edu 37 2 215848475 215848475 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:215848475G>T ENST00000272895.7 - 29 4497 c.4278C>A c.(4276-4278)caC>caA p.H1426Q ABCA12_ENST00000389661.4_Missense_Mutation_p.H1108Q NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1426 ABC transporter 1. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) ACAAGACGTCGTGCTGCATAC 0.463000 9 515 0.000673444 0.000733212 0.008291 1 0 MYO3A 53904 broad.mit.edu 37 10 26432511 26432511 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:26432511C>T ENST00000265944.5 + 21 2563 c.2397C>T c.(2395-2397)gcC>gcT p.A799A MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 799 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TTCCCAAGGCCACTGACCAGA 0.378000 5 113 0 0 0.014758 0 0 XIRP2 129446 broad.mit.edu 37 2 168106380 168106380 + Silent SNP A A C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:168106380A>C ENST00000409195.1 + 9 8567 c.8478A>C c.(8476-8478)tcA>tcC p.S2826S XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.S2826S|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.S2604S|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2651 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGGGACCATCAATGATTGGTC 0.398000 5 263 0 0 0.014758 0 0 TCHH 7062 broad.mit.edu 37 1 152080152 152080152 + Silent SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:152080152C>G ENST00000368804.1 - 2 5540 c.5541G>C c.(5539-5541)gcG>gcC p.A1847A NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1847 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) ACTGCTCCTCCGCCCGGTACT 0.567000 20 321 0 0 0.012319 0 0 CUL1 8454 broad.mit.edu 37 7 148484122 148484122 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:148484122G>C ENST00000325222.4 + 13 1668 c.1389G>C c.(1387-1389)caG>caC p.Q463H CUL1_ENST00000602748.1_Missense_Mutation_p.Q463H|CUL1_ENST00000409469.1_Missense_Mutation_p.Q463H NM_003592.2 NP_003583.2 Q13616 CUL1_HUMAN cullin 1 463 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) ACGTATTTCAGAAGTTCTATG 0.478000 30 97 0 0 0.010818 0 0 STMN2 11075 broad.mit.edu 37 8 80567105 80567105 + Splice_Site SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr8:80567105G>T ENST00000220876.7 + 4 670 c.e4-1 STMN2_ENST00000518491.1_Splice_Site|STMN2_ENST00000518111.1_Splice_Site NM_001199214.1|NM_007029.3 NP_001186143.1|NP_008960.2 Q93045 STMN2_HUMAN stathmin-like 2 intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 all_lung(9;8.34e-05) Epithelial(68;0.0229)|all cancers(69;0.0874) TTCTTCCCCAGTCTCAGGAGG 0.453000 5 72 0.000602214 0.000657304 0.014758 1 0 FUBP1 8880 broad.mit.edu 37 1 78430612 78430612 + Silent SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:78430612C>A ENST00000370767.1 - 9 765 c.678G>T c.(676-678)ccG>ccT p.P226P FUBP1_ENST00000436586.2_Silent_p.P247P|FUBP1_ENST00000370768.2_Silent_p.P226P Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 226 KH 2. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 CAGTGTTCTGCGGCCCGTCTT 0.358000 """F, N""" oligodendroglioma 13 169 6.31663e-08 7.8373e-08 0.024245 1 0 PCDH15 65217 broad.mit.edu 37 10 55582806 55582806 + Silent SNP A A G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:55582806A>G ENST00000361849.3 - 34 5080 c.4686T>C c.(4684-4686)agT>agC p.S1562S PCDH15_ENST00000437009.1_Silent_p.S1491S|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395430.1_Silent_p.S1557S|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Silent_p.S1560S|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Silent_p.S1537S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Silent_p.S1520S|PCDH15_ENST00000395440.1_Intron NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1560 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TCAGAGACTTACTCTTGGCTT 0.423000 HNSCC(58;0.16) 25 230 0 0 0.007291 0 0 LTBP2 4053 broad.mit.edu 37 14 74999205 74999205 + Nonsense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr14:74999205A>T ENST00000261978.4 - 10 2297 c.1911T>A c.(1909-1911)tgT>tgA p.C637* LTBP2_ENST00000556690.1_Nonsense_Mutation_p.C637* NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 637 EGF-like 3; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) TGGTATTCACACACTCCGCGT 0.622000 4 38 0 0 0.021553 0 0 CELF5 60680 broad.mit.edu 37 19 3273874 3273874 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:3273874C>T ENST00000541430.2 + 3 383 c.347C>T c.(346-348)gCg>gTg p.A116V CELF5_ENST00000292672.2_Missense_Mutation_p.A116V NM_001172673.1 NP_001166144.1 Q8N6W0 CELF5_HUMAN CUGBP, Elav-like family member 5 116 RRM 1. mRNA processing cytoplasm|nucleus nucleotide binding|RNA binding kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1) 13 CTGCAGATGGCGCGGCCAATC 0.637000 5 27 0 0 0.001984 0 0 CLRN2 645104 broad.mit.edu 37 4 17528600 17528600 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:17528600C>T ENST00000511148.2 + 3 696 c.594C>T c.(592-594)gcC>gcT p.A198A NM_001079827.2 NP_001073296.1 A0PK11 CLRN2_HUMAN clarin 2 198 integral to membrane breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1) 15 GCGCTTCGGCCCATGCTGCAA 0.517000 4 89 0 0 0.009096 0 0 SKA3 221150 broad.mit.edu 37 13 21742500 21742500 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr13:21742500A>T ENST00000314759.5 - 4 494 c.370T>A c.(370-372)Tct>Act p.S124T SKA3_ENST00000400018.3_Missense_Mutation_p.S124T NM_145061.5 NP_659498.4 Q8IX90 SKA3_HUMAN spindle and kinetochore associated complex subunit 3 124 cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytoplasm|spindle microtubule protein binding p.S124P(2) breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 TCACAATTAGACAACTCTGGG 0.383000 9 71 0 0 0.013537 0 0 SORCS3 22986 broad.mit.edu 37 10 106974254 106974254 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:106974254C>T ENST00000369701.3 + 18 2657 c.2430C>T c.(2428-2430)acC>acT p.T810T SORCS3_ENST00000369699.4_Silent_p.T96T NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 810 integral to membrane neuropeptide receptor activity p.T810T(1) 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) AGAAGTACACCGCCAAGGCCC 0.537000 8 74 0 0 0.004482 0 0 EPHA7 2045 broad.mit.edu 37 6 94068117 94068117 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:94068117C>A ENST00000369303.4 - 4 1029 c.845G>T c.(844-846)gGg>gTg p.G282V NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 282 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CTTGTAGAACCCACGGCCACA 0.393000 7 46 2.62144e-13 3.52357e-13 0.004482 1 0 ZNF765 91661 broad.mit.edu 37 19 53911624 53911624 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:53911624G>T ENST00000396408.3 + 4 933 c.816G>T c.(814-816)aaG>aaT p.K272N ZNF765_ENST00000594030.1_Intron NM_001040185.1 NP_001035275.1 Q7L2R6 ZN765_HUMAN zinc finger protein 765 272 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(3) 4 GBM - Glioblastoma multiforme(134;0.00379) AACCTTACAAGTGTAATGAGT 0.408000 15 107 3.27435e-08 4.09177e-08 0.020292 1 0 STXBP5L 9515 broad.mit.edu 37 3 120976095 120976095 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:120976095C>A ENST00000273666.6 + 17 2018 c.1747C>A c.(1747-1749)Cag>Aag p.Q583K STXBP5L_ENST00000471454.1_Missense_Mutation_p.Q583K|STXBP5L_ENST00000492541.1_Missense_Mutation_p.Q583K|STXBP5L_ENST00000497029.1_Missense_Mutation_p.Q583K|STXBP5L_ENST00000472879.1_Missense_Mutation_p.Q583K NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 583 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) TCTCTCAGCCCAGCTTCCTTC 0.418000 34 185 6.90743e-12 9.25595e-12 0.017118 1 0 PAPOLA 10914 broad.mit.edu 37 14 97009144 97009144 + Silent SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr14:97009144G>T ENST00000216277.8 + 14 1423 c.1203G>T c.(1201-1203)ctG>ctT p.L401L PAPOLA_ENST00000392990.2_Silent_p.L401L NM_032632.4 NP_116021.2 P51003 PAPOA_HUMAN poly(A) polymerase alpha 401 mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) TCCGAATCCTGGTTGGAAGCT 0.368000 5 269 2.7689e-08 3.47008e-08 0.001984 1 0 ZNF654 55279 broad.mit.edu 37 3 88189521 88189521 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:88189521C>T ENST00000309495.5 + 1 1268 c.1061C>T c.(1060-1062)tCt>tTt p.S354F CGGBP1_ENST00000462901.1_Intron NM_018293.2 NP_060763.2 Q8IZM8 ZN654_HUMAN zinc finger protein 654 354 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3) 12 Lung NSC(201;0.0283) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) AAAGACTCATCTAGTAATGAG 0.353000 4 64 0 0 0.009096 0 0 TAPBP 6892 broad.mit.edu 37 6 33272846 33272846 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:33272846G>C ENST00000434618.2 - 4 1133 c.788C>G c.(787-789)cCc>cGc p.P263R TAPBP_ENST00000456592.2_Missense_Mutation_p.P263R|TAPBP_ENST00000426633.2_Missense_Mutation_p.P263R|TAPBP_ENST00000475304.1_Missense_Mutation_p.P281R|TAPBP_ENST00000489157.1_Missense_Mutation_p.P176R NM_003190.4|NM_172209.2 NP_003181.3|NP_757346.2 O15533 TPSN_HUMAN TAP binding protein (tapasin) 263 antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|MHC class I peptide loading complex|microsome MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding endometrium(2)|large_intestine(5)|lung(8)|ovary(3) 18 CTCCTGAAAGGGTTGAACTGT 0.582000 9 206 0 0 0.004482 0 0 KRT12 3859 broad.mit.edu 37 17 39019986 39019986 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:39019986C>T ENST00000251643.4 - 4 961 c.938G>A c.(937-939)cGg>cAg p.R313Q NM_000223.3 NP_000214.1 Q99456 K1C12_HUMAN keratin 12 313 Coil 2.|Rod. 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) AGCGTCCTTCCGATTCTGCTC 0.547000 5 118 0 0 0.014758 0 0 OTOF 9381 broad.mit.edu 37 2 26684976 26684976 + Missense_Mutation SNP T T G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:26684976T>G ENST00000272371.2 - 42 5392 c.5266A>C c.(5266-5268)Aag>Cag p.K1756Q OTOF_ENST00000402415.3_Missense_Mutation_p.K1066Q|OTOF_ENST00000339598.3_Missense_Mutation_p.K989Q|OTOF_ENST00000338581.6_Missense_Mutation_p.K989Q|OTOF_ENST00000403946.3_Missense_Mutation_p.K1756Q NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1756 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCACTGGACTTCTCCCCTGTG 0.617000 17 228 0 0 0.014323 0 0 PA2G4 5036 broad.mit.edu 37 12 56500856 56500856 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:56500856C>T ENST00000303305.6 + 3 719 c.300C>T c.(298-300)ctC>ctT p.L100L RP11-603J24.9_ENST00000548861.1_Silent_p.L81L|PA2G4_ENST00000552766.1_Silent_p.L100L|RP11-603J24.17_ENST00000548595.1_RNA NM_006191.2 NP_006182.2 Q9UQ80 PA2G4_HUMAN proliferation-associated 2G4, 38kDa 100 cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing cytoplasm|nucleolus|ribonucleoprotein complex DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(18;0.0739) ATTATATTCTCAAGGAAGGTG 0.358000 7 116 0 0 0.003080 0 0 BHMT 635 broad.mit.edu 37 5 78421881 78421881 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:78421881T>A ENST00000274353.5 + 6 745 c.638T>A c.(637-639)aTt>aAt p.I213N DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Missense_Mutation_p.I60N NM_001713.2 NP_001704.2 Q93088 BHMT1_HUMAN betaine--homocysteine S-methyltransferase 213 Hcy-binding. protein methylation|regulation of homocysteine metabolic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2) 29 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36) L-Methionine(DB00134) GCATCCATCATTGGTGTGAAC 0.502000 8 52 0 0 0.010729 0 0 KIF18A 81930 broad.mit.edu 37 11 28113014 28113014 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:28113014A>T ENST00000263181.6 - 4 820 c.530T>A c.(529-531)cTt>cAt p.L177H NM_031217.3 NP_112494.3 Q8NI77 KI18A_HUMAN kinesin family member 18A 177 Kinesin-motor. blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 36 CCGGACAGCAAGTGGCCCTGA 0.348000 15 314 0 0 0.007413 0 0 GPR32 2854 broad.mit.edu 37 19 51274813 51274813 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:51274813T>A ENST00000270590.4 + 1 1093 c.956T>A c.(955-957)gTt>gAt p.V319D NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 319 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) TACGTCTTCGTTGGCAGAGAT 0.542000 4 114 0 0 0.014758 0 0 HERC2 8924 broad.mit.edu 37 15 28544618 28544618 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr15:28544618C>A ENST00000261609.7 - 3 225 c.117G>T c.(115-117)atG>atT p.M39I NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 39 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CATCTTTAACCATTTCATTCC 0.408000 16 118 7.41877e-09 9.447e-09 0.012319 1 0 CCER1 196477 broad.mit.edu 37 12 91348302 91348302 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:91348302G>T ENST00000358859.2 - 1 651 c.218C>A c.(217-219)cCg>cAg p.P73Q CCER1_ENST00000548187.1_Intron NM_152638.2 NP_689851.1 coiled-coil glutamate-rich protein 1 CCAAAAGCCCGGGCCGTGCTG 0.652000 8 22 0.000442599 0.000487363 0.006214 1 0 ALG3 10195 broad.mit.edu 37 3 183960733 183960733 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:183960733G>A ENST00000455059.1 - 8 1356 c.902C>T c.(901-903)aCc>aTc p.T301I ALG3_ENST00000397676.3_Missense_Mutation_p.T341I|ALG3_ENST00000418734.2_Missense_Mutation_p.T285I|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Missense_Mutation_p.T293I Q92685 ALG3_HUMAN ALG3, alpha-1,3- mannosyltransferase 341 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane alpha-1,3-mannosyltransferase activity kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGTGAAGAGGGTAGAAACGAT 0.542000 4 13 0 0 0.009096 0 0 SNTG1 54212 broad.mit.edu 37 8 51569535 51569535 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr8:51569535A>T ENST00000522124.1 + 14 1577 c.916A>T c.(916-918)Acc>Tcc p.T306S SNTG1_ENST00000517473.1_Missense_Mutation_p.T306S|SNTG1_ENST00000276467.5_Missense_Mutation_p.T306S|SNTG1_ENST00000518864.1_Missense_Mutation_p.T306S NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 306 PH. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) GTACTCCCCGACCTTCCTGGC 0.478000 15 103 0 0 0.024245 0 0 PCDHB14 56122 broad.mit.edu 37 5 140605286 140605286 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:140605286G>T ENST00000239449.4 + 1 2209 c.2209G>T c.(2209-2211)Gtg>Ttg p.V737L PCDHB14_ENST00000515856.2_Missense_Mutation_p.V584L NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 737 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGGCATCTGGTGGACGTGAG 0.632000 9 95 0.00448238 0.00476116 0.004482 1 0 SGOL1 151648 broad.mit.edu 37 3 20216189 20216189 + Silent SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:20216189T>C ENST00000412997.1 - 6 1185 c.834A>G c.(832-834)gaA>gaG p.E278E SGOL1_ENST00000442720.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000421451.1_Silent_p.E278E|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000263753.4_Silent_p.E278E|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000412868.1_Silent_p.E278E|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1-AS1_ENST00000441442.1_RNA NM_001199251.1 NP_001186180.1 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 (S. pombe) 278 attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2) 14 ttttAGTTTGTTCAGATTTAG 0.323000 11 77 0 0 0.008291 0 0 SCN2A 6326 broad.mit.edu 37 2 166170198 166170198 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:166170198A>T ENST00000357398.3 + 9 1393 c.1103A>T c.(1102-1104)gAc>gTc p.D368V SCN2A_ENST00000375427.2_Missense_Mutation_p.D368V|SCN2A_ENST00000283256.6_Missense_Mutation_p.D368V|SCN2A_ENST00000375437.2_Missense_Mutation_p.D368V Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 368 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) ACGAGCTTTGACACCTTTAGT 0.413000 15 129 0 0 0.028581 0 0 NTSR1 4923 broad.mit.edu 37 20 61391394 61391394 + Nonsense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr20:61391394C>A ENST00000370501.3 + 4 1403 c.1032C>A c.(1030-1032)taC>taA p.Y344* NTSR1_ENST00000482259.1_3'UTR NM_002531.2 NP_002522.2 P30989 NTR1_HUMAN neurotensin receptor 1 (high affinity) 344 endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3) 27 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) TCTACCACTACTTCTACATGG 0.577000 7 47 0.00307968 0.00328323 0.003080 1 0 SLC9A9 285195 broad.mit.edu 37 3 142985598 142985598 + Silent SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:142985598C>A ENST00000316549.6 - 16 2092 c.1884G>T c.(1882-1884)ctG>ctT p.L628L NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 628 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 CATAGCCTCCCAGGCCGAGGT 0.498000 18 125 5.03518e-11 6.70588e-11 0.007413 1 0 GTF3C1 2975 broad.mit.edu 37 16 27475683 27475683 + Missense_Mutation SNP T T G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr16:27475683T>G ENST00000356183.4 - 34 5845 c.5830A>C c.(5830-5832)Agc>Cgc p.S1944R GTF3C1_ENST00000561623.1_Intron NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1944 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 GCCTGGCCGCTCAGCTGCTCT 0.662000 6 165 0 0 0.003080 0 0 TRPV2 51393 broad.mit.edu 37 17 16321065 16321065 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:16321065G>T ENST00000338560.7 + 2 482 c.83G>T c.(82-84)gGa>gTa p.G28V TRPV2_ENST00000577397.1_5'UTR NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 28 Required for interaction with SLC50A1 (By similarity). sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) GCGGACAGAGGAAAGCTGGAT 0.562000 9 47 3.07112e-06 3.63443e-06 0.010729 1 0 MINPP1 9562 broad.mit.edu 37 10 89272967 89272967 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:89272967G>T ENST00000371996.4 + 3 963 c.922G>T c.(922-924)Gat>Tat p.D308Y MINPP1_ENST00000371994.4_Intron|MINPP1_ENST00000536010.1_Missense_Mutation_p.D107Y NM_004897.4 NP_004888.2 Q9UNW1 MINP1_HUMAN multiple inositol-polyphosphate phosphatase 1 308 bone mineralization|polyphosphate metabolic process endoplasmic reticulum lumen acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2) 5 Colorectal(252;0.122) UCEC - Uterine corpus endometrioid carcinoma (6;0.00123) TTTTGACATAGATGATGCAAA 0.328000 6 150 8.12818e-05 9.14683e-05 0.001984 1 0 NLGN4X 57502 broad.mit.edu 37 X 5950772 5950772 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:5950772G>T ENST00000381093.2 - 3 955 c.492C>A c.(490-492)aaC>aaA p.N164K NLGN4X_ENST00000381092.1_Intron|NLGN4X_ENST00000381095.3_Intron|NLGN4X_ENST00000538097.1_Intron|NLGN4X_ENST00000275857.6_Intron Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 157 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 TATCATCTGCGTTTTTCTTTG 0.348000 11 86 1.49906e-05 1.72709e-05 0.020292 1 0 DAGLA 747 broad.mit.edu 37 11 61502411 61502411 + Silent SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:61502411G>A ENST00000257215.5 + 10 1181 c.1065G>A c.(1063-1065)cgG>cgA p.R355R NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 355 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) TTGCCATCCGGCGCCACTTCC 0.632000 22 125 0 0 0.021523 0 0 LBP 3929 broad.mit.edu 37 20 36993307 36993307 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr20:36993307C>A ENST00000217407.2 + 8 983 c.822C>A c.(820-822)aaC>aaA p.N274K NM_004139.3 NP_004130.2 P18428 LBP_HUMAN lipopolysaccharide binding protein 274 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) AGGAACACAACAAAATGGTCT 0.473000 15 146 3.32936e-07 4.08433e-07 0.006122 1 0 MKI67 4288 broad.mit.edu 37 10 129903181 129903181 + Missense_Mutation SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:129903181T>C ENST00000368654.3 - 13 7298 c.6923A>G c.(6922-6924)gAa>gGa p.E2308G MKI67_ENST00000368653.3_Missense_Mutation_p.E1948G NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2308 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CTGGGCCTTTTCCTTAGGAGT 0.483000 7 404 0 0 0.003080 0 0 ZNF229 7772 broad.mit.edu 37 19 44933575 44933575 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:44933575A>T ENST00000291187.4 - 6 1685 c.1363T>A c.(1363-1365)Tac>Aac p.Y455N CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.Y461N NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 461 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) CCACAGCTGTAGGGCTTTTCT 0.572000 29 80 0 0 0.010818 0 0 PCDH11X 27328 broad.mit.edu 37 X 91675527 91675527 + Splice_Site SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:91675527C>A ENST00000298274.8 + 4 3234 c.3232_splice c.e4-1 p.T1078_splice PCDH11X_ENST00000373097.1_Intron|PCDH11X_ENST00000361655.2_Intron|PCDH11X_ENST00000373088.1_Intron|PCDH11X_ENST00000373094.1_Intron|PCDH11X_ENST00000504220.1_Intron|PCDH11X_ENST00000406881.1_Intron Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1115 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 tttctttatccttcatcccaa 0.333000 9 363 4.36969e-10 5.67213e-10 0.016723 1 0 KRTAP26-1 388818 broad.mit.edu 37 21 31692318 31692318 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr21:31692318G>C ENST00000360542.3 - 1 289 c.36C>G c.(34-36)aaC>aaG p.N12K NM_203405.1 NP_981950.1 Q6PEX3 KR261_HUMAN keratin associated protein 26-1 12 intermediate filament endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 GAGATCCTGAGTTGGAGTTTC 0.527000 7 89 0 0 0.003080 0 0 FAM199X 139231 broad.mit.edu 37 X 103434287 103434287 + Splice_Site SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:103434287A>T ENST00000493442.1 + 6 1162 c.e6-1 FAM199X_ENST00000299906.5_Splice_Site NM_207318.3 NP_997201.1 Q6PEV8 F199X_HUMAN family with sequence similarity 199, X-linked breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1) 11 TTATTTTGACAGAAGCGATCC 0.448000 18 155 0 0 0.007413 0 0 ST7 7982 broad.mit.edu 37 7 116759740 116759740 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:116759740C>G ENST00000265437.5 + 3 574 c.360C>G c.(358-360)aaC>aaG p.N120K ST7_ENST00000393449.1_Missense_Mutation_p.N120K|ST7_ENST00000393446.2_Missense_Mutation_p.N120K|ST7-AS2_ENST00000432541.1_RNA|ST7-AS2_ENST00000434993.1_RNA|ST7_ENST00000465133.1_Missense_Mutation_p.N77K|ST7_ENST00000422922.1_Missense_Mutation_p.N74K|ST7-AS2_ENST00000442719.1_RNA|ST7_ENST00000393443.1_Missense_Mutation_p.N70K|ST7_ENST00000432298.1_Missense_Mutation_p.N74K|ST7_ENST00000393444.3_Missense_Mutation_p.N77K|ST7_ENST00000393451.3_Missense_Mutation_p.N120K|ST7_ENST00000393447.4_Missense_Mutation_p.N77K|ST7_ENST00000487459.1_3'UTR|ST7_ENST00000323984.3_Missense_Mutation_p.N120K NM_021908.2 NP_068708.1 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 120 integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1) 21 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) ATTCCAGTAACGGGGACTCAG 0.393000 18 154 0 0 0.010504 0 0 LINC00969 440993 broad.mit.edu 37 3 195410687 195410687 + RNA SNP T T A rs6583274 by1000genomes TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:195410687T>A ENST00000445430.1 + 0 1884 CCCTTTGAGGTGCACTGGAGG 0.567000 3 12 0 0 0.009096 0 0 IGHV3OR15-7 28318 broad.mit.edu 37 15 20193326 20193326 + RNA SNP T T A rs1126426 TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr15:20193326T>A ENST00000558565.2 - 0 44 ATGAATCACCTTTTAAAATAG 0.458000 7 365 0 0 0.004482 0 0 APC 324 broad.mit.edu 37 5 112174637 112174637 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:112174637G>T ENST00000457016.1 + 16 3726 c.3346G>T c.(3346-3348)Ggt>Tgt p.G1116C CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.G1116C|APC_ENST00000257430.4_Missense_Mutation_p.G1116C P25054 APC_HUMAN adenomatous polyposis coli 1116 Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) AAATCGAGTGGGTTCTAATCA 0.398000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 7 138 2.7689e-08 3.47008e-08 0.001984 1 0 GRM5 2915 broad.mit.edu 37 11 88301013 88301013 + Nonsense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:88301013G>C ENST00000418177.2 - 8 2205 c.1838C>G c.(1837-1839)tCa>tGa p.S613* GRM5_ENST00000455756.2_Nonsense_Mutation_p.S613*|GRM5_ENST00000393297.1_Nonsense_Mutation_p.S613*|GRM5_ENST00000305432.5_Nonsense_Mutation_p.S613*|GRM5_ENST00000305447.4_Nonsense_Mutation_p.S613* P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 613 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) TTCCCTGCTTGAGGACTTGAC 0.498000 11 136 0 0 0.010729 0 0 ZNF420 147923 broad.mit.edu 37 19 37618734 37618734 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:37618734T>A ENST00000337995.3 + 5 1056 c.841T>A c.(841-843)Tgt>Agt p.C281S ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.C281S NM_144689.3 NP_653290.2 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 281 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GCTCTATGAATGTAAAGAATG 0.378000 13 198 0 0 0.013537 0 0 ESR1 2099 broad.mit.edu 37 6 152332890 152332890 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:152332890C>G ENST00000440973.1 + 7 1566 c.1196C>G c.(1195-1197)cCa>cGa p.P399R ESR1_ENST00000544394.1_Missense_Mutation_p.P226R|ESR1_ENST00000443427.1_Missense_Mutation_p.P399R|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000206249.3_Missense_Mutation_p.P399R|ESR1_ENST00000338799.5_Missense_Mutation_p.P399R|ESR1_ENST00000456483.2_Missense_Mutation_p.P287R NM_001122742.1 NP_001116214.1 P03372 ESR1_HUMAN estrogen receptor 1 399 Interaction with AKAP13.|Steroid-binding. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1) 49 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) ATGGAGCACCCAGGGAAGCTA 0.493000 7 415 0 0 0.003080 0 0 OR13C8 138802 broad.mit.edu 37 9 107331796 107331796 + Silent SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr9:107331796C>A ENST00000335040.1 + 1 348 c.348C>A c.(346-348)ggC>ggA p.G116G NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 TGATCTTAGGCACGATGGCAC 0.527000 25 112 1.66031e-10 2.17463e-10 0.021523 1 0 RNF43 54894 broad.mit.edu 37 17 56435128 56435128 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:56435128T>A ENST00000584437.1 - 8 3964 c.2009A>T c.(2008-2010)cAg>cTg p.Q670L RNF43_ENST00000581868.1_Missense_Mutation_p.Q543L|RNF43_ENST00000583753.1_Missense_Mutation_p.Q629L|RNF43_ENST00000500597.2_Missense_Mutation_p.Q629L|RNF43_ENST00000407977.2_Missense_Mutation_p.Q670L|RNF43_ENST00000577625.1_Missense_Mutation_p.Q543L|RNF43_ENST00000577716.1_Missense_Mutation_p.Q670L|BZRAP1-AS1_ENST00000583841.1_RNA Q68DV7 RNF43_HUMAN ring finger protein 43 670 Pro-rich. endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGTTGCATCCTGGGGCCGAGA 0.597000 12 392 0 0 0.016723 0 0 NALCN 259232 broad.mit.edu 37 13 101762987 101762987 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr13:101762987C>T ENST00000251127.6 - 20 2428 c.2347G>A c.(2347-2349)Gaa>Aaa p.E783K NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 783 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GTCAAAGTTTCAAGAGATTTT 0.388000 16 266 0 0 0.004990 0 0 KLHL1 57626 broad.mit.edu 37 13 70681450 70681450 + Nonsense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr13:70681450C>A ENST00000377844.4 - 1 1141 c.382G>T c.(382-384)Gag>Tag p.E128* KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 128 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) GGCACCACCTCCTCCTCTAGT 0.592000 16 92 3.52763e-06 4.15212e-06 0.004990 1 0 ADAT1 23536 broad.mit.edu 37 16 75652534 75652534 + Silent SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr16:75652534G>A ENST00000307921.3 - 5 388 c.243C>T c.(241-243)gaC>gaT p.D81D NM_012091.3 NP_036223.2 Q9BUB4 ADAT1_HUMAN adenosine deaminase, tRNA-specific 1 81 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 CATTGAGGATGTCTCCTGCGG 0.532000 4 132 0 0 0.001984 0 0 TMEM171 134285 broad.mit.edu 37 5 72419374 72419374 + Silent SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:72419374G>T ENST00000454765.2 + 2 647 c.174G>T c.(172-174)gtG>gtT p.V58V TMEM171_ENST00000287773.5_Silent_p.V58V Q8WVE6 TM171_HUMAN transmembrane protein 171 58 integral to membrane endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1) 15 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115) GCCCCATGGTGCTCAAGGTGG 0.622000 7 45 2.0095e-06 2.39435e-06 0.001984 1 0 POLA1 5422 broad.mit.edu 37 X 24830823 24830823 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:24830823G>A ENST00000379068.3 + 29 3182 c.3139G>A c.(3139-3141)Gat>Aat p.D1047N POLA1_ENST00000379059.3_Missense_Mutation_p.D1041N P09884 DPOLA_HUMAN polymerase (DNA directed), alpha 1, catalytic subunit 1041 Poly-Leu. cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2) 11 Clofarabine(DB00631)|Fludarabine(DB01073) AATAGACATTGATGGGGTTTT 0.378000 6 207 0 0 0.021553 0 0 ADPRHL2 54936 broad.mit.edu 37 1 36558896 36558896 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:36558896A>T ENST00000373178.4 + 6 1031 c.1001A>T c.(1000-1002)cAg>cTg p.Q334L NM_017825.2 NP_060295.1 Q9NX46 ARHL2_HUMAN ADP-ribosylhydrolase like 2 334 cytoplasm|nucleus metal ion binding|poly(ADP-ribose) glycohydrolase activity cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1) 8 Myeloproliferative disorder(586;0.0393) GGGATGGATCAGGTGCCAGAG 0.547000 5 59 0 0 0.021553 0 0 KCNH5 27133 broad.mit.edu 37 14 63179419 63179419 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr14:63179419C>A ENST00000394968.1 - 11 2028 c.1861G>T c.(1861-1863)Gca>Tca p.A621S KCNH5_ENST00000322893.7_Intron|KCNH5_ENST00000420622.2_Intron NM_172376.1 NP_758964.1 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 0 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) AGAGCGTTTGCCATGGAGAAC 0.493000 6 37 0.00198382 0.00212535 0.001984 1 0 CAPN6 827 broad.mit.edu 37 X 110494202 110494202 + Silent SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:110494202C>A ENST00000324068.1 - 8 1268 c.1101G>T c.(1099-1101)ctG>ctT p.L367L CAPN6_ENST00000541758.1_Silent_p.L112L NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 367 Domain III. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 AGCGGTTCATCAGGGGATCAT 0.468000 345 1711 1.15162e-75 1.70011e-75 0.014410 1 0 LIPG 9388 broad.mit.edu 37 18 47107826 47107826 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr18:47107826C>T ENST00000261292.4 + 6 1113 c.835C>T c.(835-837)Cac>Tac p.H279Y LIPG_ENST00000580036.1_Missense_Mutation_p.H279Y|LIPG_ENST00000577628.1_Missense_Mutation_p.H315Y|LIPG_ENST00000427224.2_Missense_Mutation_p.H205Y NM_006033.2 NP_006024.1 Q9Y5X9 LIPE_HUMAN lipase, endothelial 279 cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 GCGAGCCGTCCACCTCTTTGT 0.507000 5 176 0 0 0.014758 0 0 ALOX15B 247 broad.mit.edu 37 17 7950631 7950631 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:7950631G>A ENST00000380183.4 + 11 1652 c.1513G>A c.(1513-1515)Gac>Aac p.D505N ALOX15B_ENST00000380173.2_Missense_Mutation_p.D476N|ALOX15B_ENST00000573359.1_Intron|ALOX15B_ENST00000572022.1_Missense_Mutation_p.D493N NM_001141.2 NP_001132.2 O15296 LX15B_HUMAN arachidonate 15-lipoxygenase, type B 505 Lipoxygenase. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 24 TGTCCAAGATGACAGAGAGCT 0.547000 12 151 0 0 0.016723 0 0 RYR2 6262 broad.mit.edu 37 1 237947973 237947973 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:237947973G>A ENST00000366574.2 + 90 13278 c.12961G>A c.(12961-12963)Ggt>Agt p.G4321S RYR2_ENST00000360064.6_Missense_Mutation_p.G4327S|RYR2_ENST00000542537.1_Missense_Mutation_p.G4305S NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4321 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 p.G4319S(1) 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) CCTCGTCGAAGGTGCTAAAAA 0.522000 17 106 0 0 0.007413 0 0 FLNB 2317 broad.mit.edu 37 3 58109130 58109130 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:58109130G>A ENST00000357272.4 + 21 3602 c.3437G>A c.(3436-3438)gGg>gAg p.G1146E FLNB_ENST00000419752.2_Missense_Mutation_p.G977E|FLNB_ENST00000493452.1_Missense_Mutation_p.G977E|FLNB_ENST00000490882.1_Missense_Mutation_p.G1146E|FLNB_ENST00000358537.3_Missense_Mutation_p.G1146E|FLNB_ENST00000348383.5_Missense_Mutation_p.G1146E|FLNB_ENST00000295956.4_Missense_Mutation_p.G1146E|FLNB_ENST00000429972.2_Missense_Mutation_p.G1146E O75369 FLNB_HUMAN filamin B, beta 1146 Interaction with FBLP1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CTCGAGCACGGGAAGGTGGGT 0.592000 25 120 0 0 0.014323 0 0 HMBS 3145 broad.mit.edu 37 11 118959809 118959809 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:118959809G>A ENST00000537841.1 + 4 418 c.127G>A c.(127-129)Ggg>Agg p.G43R HMBS_ENST00000534956.1_3'UTR|HMBS_ENST00000392841.1_Missense_Mutation_p.G43R|HMBS_ENST00000544387.1_Missense_Mutation_p.G60R|HMBS_ENST00000442944.2_Missense_Mutation_p.G43R|HMBS_ENST00000542729.1_Missense_Mutation_p.G43R|HMBS_ENST00000543090.1_Missense_Mutation_p.G42R|HMBS_ENST00000278715.3_Missense_Mutation_p.G60R P08397 HEM3_HUMAN hydroxymethylbilane synthase 60 peptidyl-pyrromethane cofactor linkage cytosol hydroxymethylbilane synthase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 15 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.72e-05) GTCCACCACAGGGGACAAGAT 0.478000 4 144 0 0 0.014758 0 0 OR6S1 341799 broad.mit.edu 37 14 21109144 21109144 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr14:21109144C>A ENST00000320704.3 - 1 706 c.707G>T c.(706-708)gGc>gTc p.G236V NM_001001968.1 NP_001001968.1 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, member 1 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) CTTCTGACGGCCTGAAGCAGA 0.537000 5 142 3.59834e-05 4.09158e-05 0.021553 1 0 GPR52 9293 broad.mit.edu 37 1 174417609 174417609 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:174417609C>T ENST00000367685.2 + 1 398 c.360C>T c.(358-360)atC>atT p.I120I RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron NM_005684.4 NP_005675.3 Q9Y2T5 GPR52_HUMAN G protein-coupled receptor 52 120 integral to plasma membrane G-protein coupled receptor activity breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2) 20 TTGGATATATCATCTCAGTTC 0.428000 26 389 0 0 0.009535 0 0 FLG 2312 broad.mit.edu 37 1 152278649 152278649 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:152278649C>G ENST00000368799.1 - 3 8748 c.8713G>C c.(8713-8715)Gag>Cag p.E2905Q FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2905 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.E2905Q(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACCACCTCTCAGAGTCTTCT 0.567000 Ichthyosis 6 251 0 0 0.007413 0 0 ATP1B3 483 broad.mit.edu 37 3 141626065 141626065 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:141626065G>C ENST00000539728.1 + 4 546 c.253G>C c.(253-255)Gat>Cat p.D85H ATP1B3_ENST00000462082.1_Intron|ATP1B3_ENST00000286371.3_Missense_Mutation_p.D99H P54709 AT1B3_HUMAN ATPase, Na+/K+ transporting, beta 3 polypeptide 99 ATP biosynthetic process|blood coagulation|leukocyte migration melanosome|sodium:potassium-exchanging ATPase complex protein binding|sodium:potassium-exchanging ATPase activity cervix(1)|endometrium(1)|lung(2) 4 CAGTAGGTCTGATCCAACTTC 0.348000 5 174 0 0 0.001984 0 0 HECTD3 79654 broad.mit.edu 37 1 45476639 45476639 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:45476639C>A ENST00000372172.4 - 1 362 c.291G>T c.(289-291)gaG>gaT p.E97D NM_024602.5 NP_078878.3 Q5T447 HECD3_HUMAN HECT domain containing E3 ubiquitin protein ligase 3 97 proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm ubiquitin-protein ligase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1) 28 Acute lymphoblastic leukemia(166;0.155) CGCGCCGGAGCTCAATGCTGT 0.746000 3 14 0.004672 0.0049325 0.004672 1 0 ACTRT1 139741 broad.mit.edu 37 X 127185641 127185641 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:127185641C>G ENST00000371124.3 - 1 741 c.545G>C c.(544-546)tGt>tCt p.C182S NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 182 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 CCCTGCCATACAGAGTTTGGT 0.552000 5 174 0 0 0.014758 0 0 CD101 9398 broad.mit.edu 37 1 117559875 117559875 + Silent SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:117559875G>A ENST00000256652.4 + 5 1450 c.1392G>A c.(1390-1392)ggG>ggA p.G464G CD101_ENST00000369470.1_Silent_p.G464G NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4 NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2 Q93033 IGSF2_HUMAN CD101 molecule 464 Ig-like C2-type 4. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CTGGCATGGGGCAGGATGGCA 0.587000 5 86 0 0 0.014758 0 0 LSAMP 4045 broad.mit.edu 37 3 116163796 116163796 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:116163796G>C ENST00000490035.1 - 1 582 c.83C>G c.(82-84)cCt>cGt p.P28R LSAMP_ENST00000539563.1_Missense_Mutation_p.P25R NM_002338.3 NP_002329.2 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 28 cell adhesion|nervous system development anchored to membrane|plasma membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) GCTGCGAACAGGCAGTCCTGT 0.582000 8 84 0 0 0.003080 0 0 GLDC 2731 broad.mit.edu 37 9 6553455 6553455 + Silent SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr9:6553455C>A ENST00000321612.6 - 20 2520 c.2370G>T c.(2368-2370)cgG>cgT p.R790R NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 790 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) CATCCTCATTCCGCTTTAGTG 0.483000 76 81 5.85233e-21 8.30193e-21 0.014410 1 0 IL16 3603 broad.mit.edu 37 15 81585315 81585315 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr15:81585315G>C ENST00000394660.2 + 12 2199 c.1839G>C c.(1837-1839)aaG>aaC p.K613N IL16_ENST00000302987.4_Missense_Mutation_p.K613N NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 613 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 ACCCTCAGAAGAGTCTGGAAG 0.502000 15 75 0 0 0.006122 0 0 MYOCD 93649 broad.mit.edu 37 17 12666854 12666854 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:12666854T>A ENST00000425538.1 + 14 3054 c.2854T>A c.(2854-2856)Ttt>Att p.F952I MYOCD_ENST00000343344.4_Missense_Mutation_p.F904I|RP11-1090M7.1_ENST00000584772.1_RNA NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 904 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CACACCAGGCTTTAGCGCCCT 0.517000 8 101 0 0 0.006214 0 0 COMMD3-BMI1 100532731 broad.mit.edu 37 10 22606898 22606898 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:22606898G>T ENST00000602390.1 + 2 234 c.225G>T c.(223-225)aaG>aaT p.K75N COMMD3_ENST00000483684.1_3'UTR|COMMD3-BMI1_ENST00000463409.2_3'UTR|COMMD3_ENST00000376836.3_Missense_Mutation_p.K75N NM_001204062.1 NP_001190991.1 P35226 BMI1_HUMAN 0 hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex RING-like zinc finger domain binding|zinc ion binding AGGCAGGAAAGCACCGAGCTG 0.333000 5 31 0.000602214 0.000657304 0.014758 1 0 ZNF354A 6940 broad.mit.edu 37 5 178139800 178139800 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:178139800C>T ENST00000335815.2 - 5 1276 c.1079G>A c.(1078-1080)gGc>gAc p.G360D NM_005649.2 NP_005640.2 O60765 Z354A_HUMAN zinc finger protein 354A 360 regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2) 19 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.185) AAAGGTGTTGCCACATTCATT 0.418000 4 152 0 0 0.014758 0 0 SETDB1 9869 broad.mit.edu 37 1 150913870 150913870 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:150913870C>T ENST00000271640.5 + 5 703 c.513C>T c.(511-513)gtC>gtT p.V171V SETDB1_ENST00000368963.1_Silent_p.V171V|SETDB1_ENST00000368962.2_Silent_p.V171V|SETDB1_ENST00000368969.4_Silent_p.V171V|SETDB1_ENST00000459773.1_Intron NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 171 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) TGGATGCTGTCAACAAGAAGA 0.428000 28 83 0 0 0.009535 0 0 MYL10 93408 broad.mit.edu 37 7 101259549 101259549 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:101259549C>A ENST00000223167.4 - 6 661 c.484G>T c.(484-486)Gcc>Tcc p.A162S NM_138403.4 NP_612412.2 Q9BUA6 MYL10_HUMAN myosin, light chain 10, regulatory 162 EF-hand 2. mitochondrion calcium ion binding breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 12 ACTTTGAAGGCGTGGAGAATG 0.557000 5 21 0.000602214 0.000657304 0.014758 1 0 LST3 0 broad.mit.edu 37 12 21201840 21201840 + Splice_Site SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:21201840G>T ENST00000381541.3 + 9 1395 c.1331_splice c.e9+1 p.G444_splice SLCO1B7_ENST00000421593.2_Splice_Site_p.G397_splice|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Splice_Site_p.G444_splice|SLCO1B3_ENST00000553473.1_Intron GACCTATGATGGGTTTGTATA 0.318000 12 73 0.00010058 0.000113039 0.013537 1 0 VPRBP 9730 broad.mit.edu 37 3 51457358 51457358 + Silent SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:51457358T>C ENST00000335891.5 - 7 1728 c.1719A>G c.(1717-1719)ccA>ccG p.P573P Q9Y4B6 VPRBP_HUMAN Vpr (HIV-1) binding protein 1022 interspecies interaction between organisms cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) AGGTGGCAACTGGATTCTTGC 0.483000 10 190 0 0 0.008291 0 0 SOS1 6654 broad.mit.edu 37 2 39294821 39294821 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:39294821T>A ENST00000426016.1 - 3 247 c.161A>T c.(160-162)cAa>cTa p.Q54L SOS1_ENST00000395038.2_Missense_Mutation_p.Q54L|SOS1_ENST00000402219.2_Missense_Mutation_p.Q54L|SOS1_ENST00000428721.2_5'UTR Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 54 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) ATTTAATAATTGCAAAATTAA 0.343000 Noonan syndrome 4 183 0 0 0.009096 0 0 PGP 283871 broad.mit.edu 37 16 2264177 2264177 + Missense_Mutation SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr16:2264177T>C ENST00000333503.7 - 1 631 c.602A>G c.(601-603)gAc>gGc p.D201G NM_001042371.2 NP_001035830.1 A6NDG6 PGP_HUMAN phosphoglycolate phosphatase 201 carbohydrate metabolic process phosphoglycolate phosphatase activity skin(1) 1 AAGCCGGTTGTCCATGTTGGT 0.697000 2 4 0 0 0.004672 0 0 ZNF23 7571 broad.mit.edu 37 16 71482972 71482972 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr16:71482972A>T ENST00000393539.2 - 6 1769 c.956T>A c.(955-957)gTt>gAt p.V319D RP11-510M2.10_ENST00000576258.1_RNA|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000428724.2_Missense_Mutation_p.V261D|ZNF23_ENST00000417828.1_Missense_Mutation_p.V319D|ZNF23_ENST00000357254.4_Missense_Mutation_p.V319D|ZNF23_ENST00000564528.1_Missense_Mutation_p.V261D|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000358700.2_3'UTR NM_145911.1 NP_666016.1 P17027 ZNF23_HUMAN zinc finger protein 23 319 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1) 29 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) TTTTGCATTAACATTGAACGC 0.413000 21 174 0 0 0.008871 0 0 MTG2 26164 broad.mit.edu 37 20 60773887 60773887 + Silent SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr20:60773887G>A ENST00000370823.3 + 5 684 c.666G>A c.(664-666)aaG>aaA p.K222K MTG2_ENST00000436421.2_Intron|MTG2_ENST00000461411.1_3'UTR|MTG2_ENST00000536470.1_5'UTR NM_015666.3 NP_056481.1 mitochondrial ribosome-associated GTPase 2 TGGAGCTCAAGACGGTGGCCC 0.572000 4 37 0 0 0.014758 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55290079 55290079 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:55290079G>T ENST00000336077.6 + 5 720 c.680G>T c.(679-681)aGt>aTt p.S227I KIR2DL3_ENST00000434419.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.S227I|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron NM_014218.2 NP_055033.2 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 227 immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CCTTCAAATAGTTGGCCTTCA 0.502000 78 175 9.86815e-39 1.44944e-38 0.014410 1 0 KCNH1 3756 broad.mit.edu 37 1 211192455 211192455 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:211192455C>T ENST00000367007.4 - 6 871 c.702G>A c.(700-702)ttG>ttA p.L234L KCNH1_ENST00000271751.4_Silent_p.L234L NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 234 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) TATAAGGGACCAAGATGGCTG 0.433000 32 125 0 0 0.010818 0 0 NASP 4678 broad.mit.edu 37 1 46073179 46073179 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:46073179T>A ENST00000350030.3 + 6 683 c.596T>A c.(595-597)gTt>gAt p.V199D NASP_ENST00000372052.4_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.V135D|NASP_ENST00000402363.3_Missense_Mutation_p.V201D|NASP_ENST00000351223.3_Intron NM_002482.3 NP_002473.2 P49321 NASP_HUMAN nuclear autoantigenic sperm protein (histone-binding) 199 Glu-rich (acidic). blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport cytoplasm|nucleus Hsp90 protein binding breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 17 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211) CAGGAAAAAGTTGACTTGACT 0.453000 5 100 0 0 0.014758 0 0 AMPD1 270 broad.mit.edu 37 1 115220954 115220954 + Splice_Site SNP A A G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:115220954A>G ENST00000369538.3 - 7 1226 c.1179_splice c.e7+1 p.A393_splice AMPD1_ENST00000353928.6_Splice_Site_p.A364_splice|AMPD1_ENST00000520113.2_Splice_Site_p.A397_splice NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 364 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) TTCAACCTACAGCATGAACAT 0.413000 20 182 0 0 0.010504 0 0 RYR1 6261 broad.mit.edu 37 19 38976231 38976231 + Splice_Site SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:38976231T>C ENST00000355481.4 + 34 5067 c.4934_splice c.e34-1 p.C1646_splice RYR1_ENST00000359596.3_Splice_Site_p.C1646_splice|RYR1_ENST00000360985.3_Splice_Site_p.C1646_splice NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1646 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTGCTGCAGGTGCATGGACAT 0.597000 9 143 0 0 0.006214 0 0 GAS2L3 283431 broad.mit.edu 37 12 100994245 100994245 + Missense_Mutation SNP A A C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:100994245A>C ENST00000539410.1 + 3 490 c.104A>C c.(103-105)tAc>tCc p.Y35S GAS2L3_ENST00000537247.1_5'UTR|GAS2L3_ENST00000547754.1_Missense_Mutation_p.Y35S|GAS2L3_ENST00000266754.5_Missense_Mutation_p.Y35S Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 35 cell cycle arrest endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 GTTTGTCAGTACGATGAGTGG 0.443000 7 274 0 0 0.001984 0 0 UGT1A7 54577 broad.mit.edu 37 2 234591160 234591160 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:234591160C>A ENST00000373426.3 + 1 577 c.577C>A c.(577-579)Ctt>Att p.L193I UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron NM_019077.2 NP_061950.2 NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1) 33 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746) TGTCCCCAGACTTCTCTTAGG 0.458000 70 419 5.97199e-22 8.49936e-22 0.014410 1 0 OVOL2 58495 broad.mit.edu 37 20 18022289 18022289 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr20:18022289G>C ENST00000278780.6 - 3 642 c.400C>G c.(400-402)Ctg>Gtg p.L134V OVOL2_ENST00000483661.1_5'UTR NM_021220.2 NP_067043.2 Q9BRP0 OVOL2_HUMAN ovo-like zinc finger 2 134 negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent nucleus DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3) 6 TGACGGTTCAGCATGCGCTGC 0.602000 6 60 0 0 0.001984 0 0 ADCY2 108 broad.mit.edu 37 5 7820767 7820767 + Missense_Mutation SNP A A G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:7820767A>G ENST00000338316.4 + 24 3177 c.3088A>G c.(3088-3090)Agg>Ggg p.R1030G ADCY2_ENST00000537121.1_Missense_Mutation_p.R850G NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 1030 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 TGTGGCCAGTAGGATGGACAG 0.488000 10 83 0 0 0.006214 0 0 CUL4A 8451 broad.mit.edu 37 13 113907476 113907476 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr13:113907476G>T ENST00000451881.1 + 16 1668 c.1419G>T c.(1417-1419)ttG>ttT p.L473F CUL4A_ENST00000375440.4_Missense_Mutation_p.L573F|CUL4A_ENST00000375441.3_Missense_Mutation_p.L473F|CUL4A_ENST00000326335.4_Missense_Mutation_p.L473F NM_001278513.1|NM_003589.2 NP_001265442.1|NP_003580.1 Q13619 CUL4A_HUMAN cullin 4A 573 cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1) 17 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) AAACTACTTTGGGACATGCTG 0.294000 28 136 2.48696e-23 3.55105e-23 0.015359 1 0 FH 2271 broad.mit.edu 37 1 241663856 241663856 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:241663856C>A ENST00000366560.3 - 9 1309 c.1271G>T c.(1270-1272)gGg>gTg p.G424V NM_000143.3 NP_000134.2 P07954 FUMH_HUMAN fumarate hydratase 424 fumarate metabolic process|tricarboxylic acid cycle cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex fumarate hydratase activity biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2) 26 Ovarian(103;0.103) all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118) OV - Ovarian serous cystadenocarcinoma(106;0.0214) Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109) TGAAGCATCCCCCAGCAGCCT 0.448000 """Mis, N, F""" """lieomyomatosis, renal""" Hereditary Leiomyomatosis and Renal Cell Cancer 39 169 9.84934e-19 1.37701e-18 0.010771 1 0 DMBT1 1755 broad.mit.edu 37 10 124377659 124377659 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:124377659A>T ENST00000368909.3 + 38 4737 c.4631A>T c.(4630-4632)aAc>aTc p.N1544I DMBT1_ENST00000368956.2_Missense_Mutation_p.N916I|DMBT1_ENST00000359586.6_Missense_Mutation_p.N395I|DMBT1_ENST00000338354.3_Missense_Mutation_p.N1544I|DMBT1_ENST00000368955.3_Missense_Mutation_p.N1534I|DMBT1_ENST00000344338.3_Missense_Mutation_p.N1534I|DMBT1_ENST00000330163.4_Missense_Mutation_p.N916I NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1544 SRCR 12. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) AATGATGCCAACGTGGTCTGC 0.607000 51 393 0 0 0.014410 0 0 PEX5L 51555 broad.mit.edu 37 3 179615932 179615932 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:179615932G>C ENST00000467460.1 - 3 526 c.196C>G c.(196-198)Cag>Gag p.Q66E PEX5L_ENST00000392649.3_Missense_Mutation_p.Q23E|PEX5L_ENST00000464614.1_Missense_Mutation_p.Q23E|PEX5L_ENST00000263962.8_Missense_Mutation_p.Q64E|PEX5L_ENST00000465751.1_Missense_Mutation_p.Q42E|PEX5L_ENST00000468741.1_Intron|PEX5L_ENST00000476138.1_Missense_Mutation_p.Q23E|PEX5L_ENST00000485199.1_Intron|PEX5L_ENST00000472994.1_Intron NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 66 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) CTGCCCACCTGTGATGTCATA 0.428000 14 108 0 0 0.024245 0 0 BRINP3 339479 broad.mit.edu 37 1 190195428 190195428 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:190195428C>T ENST00000367462.3 - 6 976 c.745G>A c.(745-747)Gac>Aac p.D249N FAM5C_ENST00000534846.1_Missense_Mutation_p.D147N|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 249 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TGAAGATAGTCTGGGAGAAGT 0.333000 7 70 0 0 0.004482 0 0 OR2T34 127068 broad.mit.edu 37 1 248738047 248738047 + Silent SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:248738047C>A ENST00000328782.2 - 1 33 c.12G>T c.(10-12)ggG>ggT p.G4G NM_001001821.1 NP_001001821.1 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, member 34 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AAGTCTGATTCCCTGAGCACA 0.453000 8 243 2.17888e-05 2.49711e-05 0.006214 1 0 TMEM169 92691 broad.mit.edu 37 2 216960765 216960765 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:216960765G>T ENST00000454545.1 + 3 405 c.79G>T c.(79-81)Gct>Tct p.A27S TMEM169_ENST00000437356.2_Missense_Mutation_p.A27S|TMEM169_ENST00000406027.2_Missense_Mutation_p.A27S|TMEM169_ENST00000295658.4_Missense_Mutation_p.A27S NM_001142310.1 NP_001135782.1 Q96HH4 TM169_HUMAN transmembrane protein 169 27 integral to membrane breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2) 13 Renal(323;0.0651) Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGCTGTGGCTGCTGCCCTGGC 0.557000 9 95 7.93312e-07 9.54385e-07 0.020292 1 0 TRIM48 79097 broad.mit.edu 37 11 55032389 55032389 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:55032389G>A ENST00000417545.2 + 2 144 c.58G>A c.(58-60)Gga>Aga p.G20R NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 4 intracellular zinc ion binding p.G20R(1)|p.G4R(1) endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 CATGAATTCTGGAATCTCGCA 0.468000 8 206 0 0 0.004482 0 0 COLGALT2 23127 broad.mit.edu 37 1 183920218 183920218 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:183920218C>G ENST00000361927.4 - 8 1430 c.1059G>C c.(1057-1059)aaG>aaC p.K353N COLGALT2_ENST00000367520.3_Missense_Mutation_p.K90N|COLGALT2_ENST00000546159.1_Missense_Mutation_p.K353N NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 CCCGCCTGTCCTTTCTGCGTT 0.428000 9 398 0 0 0.012319 0 0 TBX3 6926 broad.mit.edu 37 12 115120697 115120697 + Silent SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:115120697G>T ENST00000349155.2 - 1 1272 c.309C>A c.(307-309)ccC>ccA p.P103P TBX3_ENST00000257566.3_Silent_p.P103P NM_005996.3 NP_005987.3 O15119 TBX3_HUMAN T-box 3 103 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) GGTGCACCTTGGGGTCGTCCT 0.617000 16 84 8.00594e-06 9.32242e-06 0.007413 1 0 ATP11C 286410 broad.mit.edu 37 X 138880885 138880885 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:138880885T>A ENST00000370557.1 - 9 1755 c.728A>T c.(727-729)aAt>aTt p.N243I ATP11C_ENST00000370543.1_Missense_Mutation_p.N246I|ATP11C_ENST00000327569.3_Missense_Mutation_p.N246I|ATP11C_ENST00000361648.2_Missense_Mutation_p.N246I|ATP11C_ENST00000359686.2_Missense_Mutation_p.N246I Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 246 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) CAGCAAGAGATTTTCAGGTCC 0.378000 21 101 0 0 0.018920 0 0 PRAME 23532 broad.mit.edu 37 22 22892305 22892305 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr22:22892305G>A ENST00000543184.1 - 4 1658 c.796C>T c.(796-798)Ctc>Ttc p.L266F PRAME_ENST00000405655.3_Missense_Mutation_p.L266F|PRAME_ENST00000398743.2_Missense_Mutation_p.L266F|PRAME_ENST00000539862.1_Missense_Mutation_p.L250F|PRAME_ENST00000424204.2_Missense_Mutation_p.L250F|PRAME_ENST00000402697.1_Missense_Mutation_p.L266F|PRAME_ENST00000398741.1_Missense_Mutation_p.L266F NM_206953.1 NP_996836.1 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 266 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) TGGGAGAGGAGGAGTCTACGC 0.498000 12 62 0 0 0.013537 0 0 TBC1D4 9882 broad.mit.edu 37 13 75886873 75886873 + Splice_Site SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr13:75886873C>G ENST00000377636.3 - 13 2730 c.e13+1 TBC1D4_ENST00000425511.1_Splice_Site|TBC1D4_ENST00000377625.2_Splice_Site|TBC1D4_ENST00000431480.2_Splice_Site NM_014832.2 NP_055647.2 O60343 TBCD4_HUMAN TBC1 domain family, member 4 cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) GCAACACAGACCTTGCTGTTG 0.478000 5 104 0 0 0.014758 0 0 DNAH7 56171 broad.mit.edu 37 2 196822080 196822080 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:196822080T>A ENST00000312428.6 - 19 3083 c.2983A>T c.(2983-2985)Agc>Tgc p.S995C NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 995 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TCTGGAGAGCTGAAAATGGGC 0.488000 14 157 0 0 0.020292 0 0 NIT1 4817 broad.mit.edu 37 1 161089615 161089615 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:161089615T>A ENST00000368008.1 + 5 523 c.464T>A c.(463-465)gTa>gAa p.V155E NIT1_ENST00000496861.1_3'UTR|NIT1_ENST00000368009.2_Missense_Mutation_p.V155E|NIT1_ENST00000368007.4_Missense_Mutation_p.V140E|NIT1_ENST00000392190.5_Missense_Mutation_p.V119E NM_001185092.1 NP_001172021.1 Q86X76 NIT1_HUMAN nitrilase 1 155 CN hydrolase. nitrogen compound metabolic process mitochondrion nitrilase activity NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1) 12 all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GTAGGGGCAGTAGTGGCCACT 0.498000 OREG0013937 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 67 0 0 0.015359 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41742176 41742176 + Silent SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr22:41742176G>T ENST00000352645.4 + 14 1886 c.1629G>T c.(1627-1629)ctG>ctT p.L543L ZC3H7B_ENST00000351589.4_Silent_p.L543L NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 559 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CCAAGCTCCTGAAGGAGCACC 0.657000 6 16 8.12818e-05 9.14683e-05 0.001984 1 0 USP24 23358 broad.mit.edu 37 1 55637289 55637289 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:55637289C>A ENST00000294383.6 - 5 764 c.765G>T c.(763-765)tgG>tgT p.W255C USP24_ENST00000407756.1_Missense_Mutation_p.W143C NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 255 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 ACACTTCTGCCCAATTCCTTT 0.313000 6 21 0.000157383 0.000175071 0.003080 1 0 MYH13 8735 broad.mit.edu 37 17 10248827 10248827 + Missense_Mutation SNP T T G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:10248827T>G ENST00000418404.3 - 13 1533 c.1370A>C c.(1369-1371)tAc>tCc p.Y457S MYH13_ENST00000570743.1_Missense_Mutation_p.Y457S|MYH13_ENST00000252172.4_Missense_Mutation_p.Y457S Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 457 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CCCGATGAAGTACTGCCTGGG 0.502000 5 221 0 0 0.014758 0 0 LECT1 11061 broad.mit.edu 37 13 53277900 53277900 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr13:53277900C>T ENST00000448904.2 - 7 942 c.832G>A c.(832-834)Gaa>Aaa p.E278K LECT1_ENST00000377962.3_Missense_Mutation_p.E279K NM_001011705.1|NM_007015.2 NP_001011705.1|NP_008946.1 O75829 LECT1_HUMAN leukocyte cell derived chemotaxin 1 279 cartilage development|proteoglycan metabolic process endomembrane system|extracellular region|integral to membrane NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 15 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.38e-08) CAGATTCCTTCGTGATCCAGT 0.453000 5 97 0 0 0.003080 0 0 MYPN 84665 broad.mit.edu 37 10 69918275 69918275 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:69918275G>C ENST00000358913.5 + 7 1838 c.1350G>C c.(1348-1350)caG>caC p.Q450H MYPN_ENST00000354393.2_Missense_Mutation_p.Q175H|MYPN_ENST00000373675.3_Missense_Mutation_p.Q450H|MYPN_ENST00000540630.1_Missense_Mutation_p.Q450H NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 450 Ig-like 2.|Interaction with CARP. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 CTGAGGGTCAGCTGGTTGTCT 0.358000 4 75 0 0 0.009096 0 0 ARHGAP12 94134 broad.mit.edu 37 10 32097632 32097632 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:32097632G>C ENST00000375250.5 - 17 2462 c.2221C>G c.(2221-2223)Cag>Gag p.Q741E ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.Q771E|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.Q719E|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.Q719E|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.Q766E NM_001270696.1 NP_001257625.1 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 771 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2) 31 Prostate(175;0.0199) TTTGGCAACTGTCTGATTAGG 0.428000 25 251 0 0 0.006320 0 0 MYH1 4619 broad.mit.edu 37 17 10409183 10409183 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:10409183C>A ENST00000226207.5 - 19 2214 c.2120G>T c.(2119-2121)cGc>cTc p.R707L CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 707 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CCTGCAGATGCGGATGCCTTC 0.438000 4 78 1.23904e-05 1.42941e-05 0.014758 1 0 ZNF165 7718 broad.mit.edu 37 6 28056965 28056965 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:28056965G>A ENST00000377325.1 + 4 1731 c.1175G>A c.(1174-1176)cGa>cAa p.R392Q NM_003447.3 NP_003438.1 P49910 ZN165_HUMAN zinc finger protein 165 392 viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R392Q(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AGACATCGGCGAATTCACACT 0.453000 34 140 0 0 0.019004 0 0 DENND5B 160518 broad.mit.edu 37 12 31605212 31605212 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:31605212C>T ENST00000389082.5 - 5 1555 c.1291G>A c.(1291-1293)Gac>Aac p.D431N DENND5B_ENST00000354285.4_Missense_Mutation_p.D453N|DENND5B_ENST00000306833.6_Missense_Mutation_p.D466N|DENND5B_ENST00000536562.1_Missense_Mutation_p.D466N NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 431 integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 TTCTTTTTGTCATTGACCAAG 0.458000 24 194 0 0 0.016522 0 0 CD1E 913 broad.mit.edu 37 1 158324257 158324257 + Nonsense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:158324257G>A ENST00000368160.3 + 2 149 c.149G>A c.(148-150)tGg>tAg p.W50* CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368155.3_Nonsense_Mutation_p.W50*|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000434258.1_Nonsense_Mutation_p.W48*|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368156.1_Nonsense_Mutation_p.W50*|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368161.3_Nonsense_Mutation_p.W50*|CD1E_ENST00000368165.3_Nonsense_Mutation_p.W50*|CD1E_ENST00000368163.3_Nonsense_Mutation_p.W50*|CD1E_ENST00000368167.3_Nonsense_Mutation_p.W50*|CD1E_ENST00000452291.2_Intron NM_001042583.2 NP_001036048.1 P15812 CD1E_HUMAN CD1e molecule 50 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) AACCACAGCTGGGCACACAGT 0.577000 55 201 0 0 0.014410 0 0 ZNF430 80264 broad.mit.edu 37 19 21239788 21239788 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:21239788G>C ENST00000261560.5 + 5 855 c.674G>C c.(673-675)aGa>aCa p.R225T NM_001172671.1|NM_025189.3 NP_001166142.1|NP_079465.3 Q9H8G1 ZN430_HUMAN zinc finger protein 430 225 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 CAACATAAAAGAATTCATATT 0.328000 5 27 0 0 0.014758 0 0 ABCB5 340273 broad.mit.edu 37 7 20767983 20767983 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:20767983C>T ENST00000404938.2 + 23 3424 c.2772C>T c.(2770-2772)ttC>ttT p.F924F ABCB5_ENST00000258738.6_Silent_p.F479F NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 479 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GTTATGCATTCAGCCATGCCT 0.393000 9 187 0 0 0.010729 0 0 DDX60L 91351 broad.mit.edu 37 4 169342946 169342946 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:169342946C>A ENST00000511577.1 - 17 2606 c.2359G>T c.(2359-2361)Gat>Tat p.D787Y DDX60L_ENST00000260184.7_Missense_Mutation_p.D787Y|DDX60L_ENST00000505890.1_Missense_Mutation_p.D787Y Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 787 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) ACCCCGACATCGCTCTCCCTC 0.458000 70 299 2.72187e-29 3.9711e-29 0.014410 1 0 CPS1 1373 broad.mit.edu 37 2 211504768 211504768 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:211504768G>T ENST00000233072.5 + 24 3140 c.2944G>T c.(2944-2946)Ggt>Tgt p.G982C CPS1_ENST00000430249.2_Missense_Mutation_p.G988C|CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000451903.2_Missense_Mutation_p.G531C NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 982 G -> D (in CPS1D). carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) GCTAGGCTGTGGTCCATATCA 0.313000 22 165 1.64293e-13 2.22204e-13 0.018920 1 0 GLI3 2737 broad.mit.edu 37 7 42007333 42007333 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:42007333T>A ENST00000395925.3 - 14 2376 c.2292A>T c.(2290-2292)caA>caT p.Q764H GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 764 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 TTCTCCTGGCTTGCAAAGCAA 0.498000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 17 182 0 0 0.028581 0 0 ANO5 203859 broad.mit.edu 37 11 22294402 22294402 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:22294402A>T ENST00000324559.8 + 19 2419 c.2102A>T c.(2101-2103)aAt>aTt p.N701I ANO5_ENST00000532043.1_3'UTR NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 701 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CTCATAAATAATATTGTAGAG 0.383000 5 293 0 0 0.014758 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74507415 74507415 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:74507415C>A ENST00000354431.4 - 7 1391 c.1200G>T c.(1198-1200)ttG>ttT p.L400F LRRIQ3_ENST00000395089.1_Missense_Mutation_p.L400F NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 400 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TACTCCGCTCCAATCGTATGT 0.358000 29 265 3.65163e-15 5.00089e-15 0.006320 1 0 C4orf26 152816 broad.mit.edu 37 4 76489658 76489658 + Missense_Mutation SNP A A C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:76489658A>C ENST00000435974.2 + 3 464 c.446A>C c.(445-447)gAg>gCg p.E149A C4orf26_ENST00000311623.4_3'UTR NM_001206981.1 NP_001193910.1 Q17RF5 CD026_HUMAN chromosome 4 open reading frame 26 0 extracellular region p.E149G(1) kidney(1)|large_intestine(4)|stomach(1) 6 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) GAGAGGGAAGAGAAACCCAAA 0.383000 22 175 0 0 0.016522 0 0 HMGCS1 3157 broad.mit.edu 37 5 43293064 43293064 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:43293064C>G ENST00000325110.6 - 9 1401 c.1195G>C c.(1195-1197)Gat>Cat p.D399H HMGCS1_ENST00000433297.2_Missense_Mutation_p.D399H NM_001098272.2 NP_001091742.1 Q01581 HMCS1_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) 399 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1) 15 GTTATTTTATCAAGAGCAGAC 0.348000 3 37 0 0 0.009096 0 0 KCNH7 90134 broad.mit.edu 37 2 163374397 163374397 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:163374397G>C ENST00000332142.5 - 4 834 c.735C>G c.(733-735)gaC>gaG p.D245E KCNH7_ENST00000328032.4_Missense_Mutation_p.D245E|KCNH7_ENST00000477019.1_5'UTR NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 245 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) GGTAGAGTCGGTCCCATTGCC 0.478000 20 224 0 0 0.014323 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900542 151900542 + Missense_Mutation SNP A A G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:151900542A>G ENST00000393900.3 - 3 612 c.259T>C c.(259-261)Tcc>Ccc p.S87P MAGEA12_ENST00000393869.3_Missense_Mutation_p.S87P|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Missense_Mutation_p.S87P NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 87 breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) TCGTTGCTGGAGCCCTCATCG 0.552000 7 145 0 0 0.003080 0 0 SLC39A12 221074 broad.mit.edu 37 10 18254557 18254557 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:18254557C>T ENST00000377369.2 + 4 962 c.689C>T c.(688-690)cCa>cTa p.P230L SLC39A12_ENST00000539911.1_Missense_Mutation_p.P96L|SLC39A12_ENST00000377374.4_Missense_Mutation_p.P230L|SLC39A12_ENST00000377371.3_Missense_Mutation_p.P230L NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 230 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 TTGCCTTCCCCAGACTACTTT 0.438000 22 123 0 0 0.010504 0 0 OR10A5 144124 broad.mit.edu 37 11 6867338 6867338 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:6867338G>C ENST00000299454.4 + 1 456 c.425G>C c.(424-426)cGg>cCg p.R142P OR10A5_ENST00000379831.2_Missense_Mutation_p.R146P Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CAAAGGACACGGGCCAAACTG 0.542000 5 157 0 0 0.004482 0 0 CPXM2 119587 broad.mit.edu 37 10 125521609 125521609 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:125521609C>A ENST00000241305.3 - 11 1710 c.1556G>T c.(1555-1557)gGc>gTc p.G519V CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 519 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CACCAGCTCGCCGCCCTGCAG 0.637000 19 174 4.35082e-09 5.57288e-09 0.010504 1 0 SPTA1 6708 broad.mit.edu 37 1 158617372 158617372 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:158617372G>T ENST00000368148.3 - 27 4033 c.3853C>A c.(3853-3855)Cta>Ata p.L1285I SPTA1_ENST00000368147.3_Missense_Mutation_p.L1285I NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1285 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GCCTCATTTAGGCTCTCCTTA 0.547000 44 180 1.00953e-15 1.3891e-15 0.013114 1 0 KCTD8 386617 broad.mit.edu 37 4 44176935 44176935 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:44176935C>G ENST00000360029.3 - 2 1577 c.1294G>C c.(1294-1296)Gag>Cag p.E432Q NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 432 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 CTTAGCTTCTCACAGACTTTC 0.413000 HNSCC(17;0.042) 33 610 0 0 0.015359 0 0 AHNAK 79026 broad.mit.edu 37 11 62284652 62284652 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:62284652G>A ENST00000378024.4 - 5 17511 c.17237C>T c.(17236-17238)tCa>tTa p.S5746L AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'UTR|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 5746 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GCTGGCCTTTGAACTTTTCAG 0.483000 11 148 0 0 0.008291 0 0 COL6A6 131873 broad.mit.edu 37 3 130285829 130285829 + Silent SNP A A C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:130285829A>C ENST00000358511.6 + 4 1597 c.1566A>C c.(1564-1566)acA>acC p.T522T COL6A6_ENST00000453409.2_Silent_p.T522T NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 522 Nonhelical region.|VWFA 3. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TGAATTTCACACTGAGTCTGT 0.453000 8 72 0 0 0.003080 0 0 NLRP5 126206 broad.mit.edu 37 19 56549486 56549486 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:56549486A>T ENST00000390649.3 + 10 2711 c.2711A>T c.(2710-2712)aAc>aTc p.N904I NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 904 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CTGGCAGGAAACAAGGTGACA 0.547000 13 112 0 0 0.016723 0 0 ZNF347 84671 broad.mit.edu 37 19 53644588 53644588 + Nonsense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:53644588G>C ENST00000452676.2 - 5 1922 c.1496C>G c.(1495-1497)tCa>tGa p.S499* ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Nonsense_Mutation_p.S499*|ZNF347_ENST00000334197.7_Nonsense_Mutation_p.S498* NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 498 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) AGTTAGGTTTGAATGTGCTCT 0.403000 31 205 0 0 0.013726 0 0 FAT4 79633 broad.mit.edu 37 4 126373442 126373442 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:126373442C>A ENST00000394329.3 + 9 11284 c.11271C>A c.(11269-11271)aaC>aaA p.N3757K FAT4_ENST00000335110.5_Missense_Mutation_p.N2055K NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3757 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ATGAAGAGAACAATAGAACGT 0.438000 6 158 0.00116845 0.00125644 0.021553 1 0 HTR1A 3350 broad.mit.edu 37 5 63256369 63256369 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:63256369G>A ENST00000323865.3 - 1 1411 c.1178C>T c.(1177-1179)tCt>tTt p.S393F RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 393 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GTTAAGCAGAGAGTTGGAGTA 0.507000 26 603 0 0 0.021523 0 0 SPEF2 79925 broad.mit.edu 37 5 35792520 35792520 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:35792520G>C ENST00000440995.2 + 31 4511 c.4511G>C c.(4510-4512)aGt>aCt p.S1504T SPEF2_ENST00000356031.3_Missense_Mutation_p.S1509T|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Missense_Mutation_p.S306T Q9C093 SPEF2_HUMAN sperm flagellar 2 1509 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AACTTTCCTAGTAATTGGATG 0.333000 11 400 0 0 0.013537 0 0 GABRA6 2559 broad.mit.edu 37 5 161128507 161128507 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:161128507C>A ENST00000523217.1 + 9 1302 c.1060C>A c.(1060-1062)Cct>Act p.P354T GABRA6_ENST00000274545.5_Missense_Mutation_p.P364T NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 364 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TCCACAGCATCCTGACTCCAA 0.358000 TCGA Ovarian(5;0.080) 28 336 9.78485e-24 1.40174e-23 0.013726 1 0 GPR112 139378 broad.mit.edu 37 X 135430793 135430793 + Missense_Mutation SNP C C T rs146283448 TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:135430793C>T ENST00000394143.1 + 6 5219 c.4928C>T c.(4927-4929)aCg>aTg p.T1643M GPR112_ENST00000412101.1_Missense_Mutation_p.T1438M|GPR112_ENST00000394141.1_Missense_Mutation_p.T1438M|GPR112_ENST00000287534.4_Missense_Mutation_p.T1580M|GPR112_ENST00000370652.1_Missense_Mutation_p.T1643M NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1643 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ATCACACCTACGACCTTTCTC 0.468000 28 1050 0 0 0.027356 0 0 RAD23A 5886 broad.mit.edu 37 19 13063662 13063662 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:13063662G>A ENST00000586534.1 + 8 1034 c.973G>A c.(973-975)Gag>Aag p.E325K RAD23A_ENST00000316856.3_Missense_Mutation_p.E324K|RAD23A_ENST00000592268.1_Intron|RAD23A_ENST00000541222.1_Missense_Mutation_p.E160K P54725 RD23A_HUMAN RAD23 homolog A (S. cerevisiae) 325 HIV-1 vpr binding.|UBA 2. interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process nucleus|proteasome complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 AGAAGCTATAGAGAGGGTAAG 0.602000 Nucleotide excision repair (NER) 6 71 0 0 0.001984 0 0 MADD 8567 broad.mit.edu 37 11 47304430 47304430 + Missense_Mutation SNP A A G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:47304430A>G ENST00000342922.4 + 10 2129 c.1772A>G c.(1771-1773)cAc>cGc p.H591R MADD_ENST00000402799.1_Missense_Mutation_p.H591R|MADD_ENST00000407859.3_Missense_Mutation_p.H591R|MADD_ENST00000349238.3_Missense_Mutation_p.H591R|MADD_ENST00000406482.1_Missense_Mutation_p.H591R|MADD_ENST00000402192.2_Missense_Mutation_p.H591R|MADD_ENST00000311027.5_Missense_Mutation_p.H591R|MADD_ENST00000395344.3_Missense_Mutation_p.H591R|MADD_ENST00000395336.3_Missense_Mutation_p.H591R NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 591 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) CAGCCTATCCACTATCGCGTC 0.517000 7 46 0 0 0.016723 0 0 FANCM 57697 broad.mit.edu 37 14 45645649 45645649 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr14:45645649C>T ENST00000267430.5 + 14 3777 c.3692C>T c.(3691-3693)aCc>aTc p.T1231I FANCM_ENST00000542564.2_Missense_Mutation_p.T1205I NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1231 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding p.T1231I(1) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 TTTTCTGTTACCTTTGATTTA 0.338000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 10 64 0 0 0.006214 0 0 PTPLA 9200 broad.mit.edu 37 10 17632430 17632430 + Missense_Mutation SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:17632430T>C ENST00000361271.3 - 7 837 c.800A>G c.(799-801)tAt>tGt p.Y267C NM_014241.3 NP_055056.3 B0YJ81 HACD1_HUMAN protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A 267 fatty acid biosynthetic process|multicellular organismal development|signal transduction endoplasmic reticulum membrane|integral to membrane lyase activity|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1) 13 CATATGAAAATAGAGTTGTGG 0.318000 4 154 0 0 0.009096 0 0 GC 2638 broad.mit.edu 37 4 72631257 72631257 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:72631257C>G ENST00000273951.8 - 4 708 c.365G>C c.(364-366)tGc>tCc p.C122S GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Missense_Mutation_p.C122S|GC_ENST00000504199.1_Missense_Mutation_p.C141S NM_000583.3|NM_001204306.1 NP_000574.2|NP_001191235.1 P02774 VTDB_HUMAN group-specific component (vitamin D binding protein) 122 Albumin 1. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 45 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) AGCAGCCATGCAGAGCTTTCG 0.507000 7 179 0 0 0.003080 0 0 SLC35G2 80723 broad.mit.edu 37 3 136573446 136573446 + Silent SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:136573446T>C ENST00000446465.2 + 2 772 c.144T>C c.(142-144)ttT>ttC p.F48F RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.F48F|RP11-85F14.5_ENST00000474250.1_RNA NM_025246.2 NP_079522.2 Q8TBE7 TMM22_HUMAN solute carrier family 35, member G2 48 Golgi apparatus|integral to membrane ATGGAAATTTTATGGAGGAAA 0.403000 16 546 0 0 0.007413 0 0 COPG1 22820 broad.mit.edu 37 3 128987441 128987441 + Silent SNP G G A rs36085946 TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:128987441G>A ENST00000314797.6 + 17 1856 c.1752G>A c.(1750-1752)gcG>gcA p.A584A NM_016128.3 NP_057212.1 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 584 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity TGGCCACGGCGCCCATGGCAG 0.552000 12 88 0 0 0.016723 0 0 CA6 765 broad.mit.edu 37 1 9022659 9022659 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:9022659C>A ENST00000377443.2 + 5 519 c.515C>A c.(514-516)cCt>cAt p.P172H CA6_ENST00000377442.2_Missense_Mutation_p.P112H|CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377436.3_Missense_Mutation_p.P172H NM_001215.3 NP_001206.2 P23280 CAH6_HUMAN carbonic anhydrase VI 172 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5) 16 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) AAGAATTACCCTGAAAACACT 0.498000 15 160 1.5739e-10 2.06767e-10 0.028581 1 0 PLCL2 23228 broad.mit.edu 37 3 17052825 17052825 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:17052825G>C ENST00000418129.2 + 2 2074 c.1609G>C c.(1609-1611)Gac>Cac p.D537H PLCL2_ENST00000432376.1_Missense_Mutation_p.D537H|PLCL2_ENST00000396755.2_Missense_Mutation_p.D537H NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 663 PI-PLC X-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 AAATCCAGGGGACTTTGTAAA 0.398000 7 177 0 0 0.003080 0 0 ABCG4 64137 broad.mit.edu 37 11 119025542 119025542 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr11:119025542C>T ENST00000307417.3 + 6 967 c.603C>T c.(601-603)ctC>ctT p.L201L ABCG4_ENST00000531739.1_Silent_p.L201L|ABCG4_ENST00000449422.2_Silent_p.L201L NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 201 ABC transporter. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CAGCCCTGCTCTCTGGCGGGC 0.627000 4 175 0 0 0.009096 0 0 NOA1 84273 broad.mit.edu 37 4 57843023 57843023 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:57843023C>T ENST00000264230.4 - 1 1966 c.729G>A c.(727-729)ctG>ctA p.L243L NM_032313.2 NP_115689.1 Q8NC60 CD014_HUMAN nitric oxide associated 1 243 GTP binding CCAGCACGATCAGCTGCTTGG 0.711000 13 70 0 0 0.020292 0 0 POU4F3 5459 broad.mit.edu 37 5 145719677 145719677 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:145719677C>T ENST00000230732.4 + 2 776 c.687C>T c.(685-687)tgC>tgT p.C229C CTC-359M8.1_ENST00000515598.1_RNA NM_002700.2 NP_002691.1 Q15319 PO4F3_HUMAN POU class 4 homeobox 3 229 POU-specific. sensory perception of sound|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCACCATCTGCAGGTTCGAGT 0.637000 21 159 0 0 0.012319 0 0 BBS9 27241 broad.mit.edu 37 7 33313482 33313482 + Missense_Mutation SNP C C A rs140396972 TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr7:33313482C>A ENST00000242067.6 + 9 1451 c.930C>A c.(928-930)aaC>aaA p.N310K BBS9_ENST00000396127.2_Missense_Mutation_p.N310K|BBS9_ENST00000355070.2_Missense_Mutation_p.N310K|BBS9_ENST00000350941.3_Missense_Mutation_p.N310K|BBS9_ENST00000354265.4_Missense_Mutation_p.N310K|BBS9_ENST00000425508.2_Missense_Mutation_p.N265K NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 310 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) ATCATAATAACATGCTGCATA 0.358000 Bardet-Biedl syndrome 8 86 0.000157383 0.000175071 0.003080 1 0 PSG7 5676 broad.mit.edu 37 19 43439716 43439716 + RNA SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:43439716T>A ENST00000406070.2 - 0 366 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) CAGGCCCATATTTAATTATTT 0.418000 123 883 0 0 0.014410 0 0 ABCC11 85320 broad.mit.edu 37 16 48226495 48226495 + Nonsense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr16:48226495G>T ENST00000394747.1 - 19 2991 c.2642C>A c.(2641-2643)tCa>tAa p.S881* ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000356608.2_Nonsense_Mutation_p.S881*|ABCC11_ENST00000353782.5_Nonsense_Mutation_p.S881*|ABCC11_ENST00000394748.1_Nonsense_Mutation_p.S881* NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 881 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GAAAATCCCTGAGGAGCAGAC 0.587000 36 116 8.01111e-26 1.16101e-25 0.010771 1 0 UBBP4 23666 broad.mit.edu 37 17 21731271 21731271 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:21731271C>G ENST00000584755.1 + 2 970 c.573C>G c.(571-573)atC>atG p.I191M UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 TCCCCCCGATCAGCAGAGGCT 0.547000 4 69 0 0 0.009096 0 0 ZNF197 10168 broad.mit.edu 37 3 44688007 44688007 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:44688007G>A ENST00000383745.2 + 6 979 c.794G>A c.(793-795)aGg>aAg p.R265K RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383744.4_Missense_Mutation_p.R265K NM_001024855.1 NP_001020026.1 O14709 ZN197_HUMAN zinc finger protein 197 0 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) aggaggcagaggaacaaataa 0.383000 6 45 0 0 0.001984 0 0 KDR 3791 broad.mit.edu 37 4 55958791 55958791 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:55958791G>A ENST00000263923.4 - 22 3357 c.3062C>T c.(3061-3063)tCg>tTg p.S1021L NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 1021 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TACCTTTCGCGATGCCAAGAA 0.458000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 17 122 0 0 0.004990 0 0 COL9A2 1298 broad.mit.edu 37 1 40775972 40775972 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:40775972C>A ENST00000372748.3 - 14 798 c.702G>T c.(700-702)agG>agT p.R234S NM_001852.3 NP_001843.1 Q14055 CO9A2_HUMAN collagen, type IX, alpha 2 234 Triple-helical region 3 (COL3). axon guidance|skeletal system development collagen type IX endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) CTGGGTAGCCCCTGATGCCCT 0.537000 9 88 1.5842e-08 2.0085e-08 0.016723 1 0 ASIC2 40 broad.mit.edu 37 17 31355401 31355401 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:31355401G>T ENST00000225823.2 - 4 1869 c.997C>A c.(997-999)Ctg>Atg p.L333M ASIC2_ENST00000359872.6_Missense_Mutation_p.L282M|ASIC2_ENST00000448983.1_5'UTR NM_183377.1 NP_899233.1 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 282 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) GGTGGGGGCAGGTATGTGAGC 0.512000 11 72 4.36969e-10 5.67213e-10 0.016723 1 0 LRRK2 120892 broad.mit.edu 37 12 40745422 40745422 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:40745422A>T ENST00000298910.7 + 44 6521 c.6463A>T c.(6463-6465)Atg>Ttg p.M2155L NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 2155 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TGTTGAATGCATGGTTGCTAC 0.408000 13 67 0 0 0.016723 0 0 TMC1 117531 broad.mit.edu 37 9 75403352 75403352 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr9:75403352C>A ENST00000297784.5 + 14 1522 c.982C>A c.(982-984)Cct>Act p.P328T TMC1_ENST00000340019.3_Missense_Mutation_p.P328T|TMC1_ENST00000396237.3_Missense_Mutation_p.P328T NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 328 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 GATCGGCAATCCTGAAACAGC 0.393000 5 176 0.0215528 0.0223482 0.021553 1 0 LRRFIP1 9208 broad.mit.edu 37 2 238671518 238671518 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:238671518G>C ENST00000244815.5 + 10 1330 c.1090G>C c.(1090-1092)Gtt>Ctt p.V364L LRRFIP1_ENST00000392000.4_Missense_Mutation_p.V388L|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.V332L|LRRFIP1_ENST00000308482.9_Intron NM_004735.3 NP_004726.2 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting protein 1 388 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|cytoskeleton|nucleus DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 29 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) CACAGTACAGGTTGAGTCAAA 0.498000 5 76 0 0 0.014758 0 0 CCDC39 339829 broad.mit.edu 37 3 180377327 180377327 + Missense_Mutation SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:180377327A>T ENST00000273654.4 - 12 1522 c.903T>A c.(901-903)caT>caA p.H301Q CCDC39_ENST00000442201.2_Missense_Mutation_p.H217Q Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 217 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) GTCTTTCATTATGAATCTTAC 0.358000 15 154 0 0 0.028581 0 0 RXFP1 59350 broad.mit.edu 37 4 159533309 159533309 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:159533309C>T ENST00000307765.5 + 7 815 c.564C>T c.(562-564)ttC>ttT p.F188F RXFP1_ENST00000470033.1_Silent_p.F155F|RXFP1_ENST00000343542.5_Silent_p.F188F|RXFP1_ENST00000460056.2_Silent_p.F107F|RXFP1_ENST00000448688.2_Silent_p.F107F NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 188 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) GAATAACCTTCCTGAAGCCGG 0.299000 28 325 0 0 0.010818 0 0 WNK1 65125 broad.mit.edu 37 12 991215 991215 + Silent SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:991215A>T ENST00000537687.1 + 14 4771 c.4128A>T c.(4126-4128)tcA>tcT p.S1376S WNK1_ENST00000530271.2_Silent_p.S1614S|WNK1_ENST00000535572.1_Silent_p.S869S|WNK1_ENST00000315939.6_Silent_p.S1116S|WNK1_ENST00000340908.4_Silent_p.S709S NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1116 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) AAAAAACTTCACGCCCAAAAT 0.363000 3 15 0 0 0.009096 0 0 CA5A 763 broad.mit.edu 37 16 87960443 87960443 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr16:87960443C>T ENST00000309893.2 - 2 316 c.251G>A c.(250-252)aGg>aAg p.R84K CA5A_ENST00000568801.1_5'UTR NM_001739.1 NP_001730.1 P35218 CAH5A_HUMAN carbonic anhydrase VA, mitochondrial 84 one-carbon metabolic process mitochondrial matrix carbonate dehydratase activity|zinc ion binding large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(80;0.0513) ATAGGAGACCCTGAGTGGCTT 0.597000 3 13 0 0 0.004672 0 0 PAQR8 85315 broad.mit.edu 37 6 52268418 52268418 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:52268418C>T ENST00000442253.2 + 2 581 c.407C>T c.(406-408)tCa>tTa p.S136L PAQR8_ENST00000360726.3_Missense_Mutation_p.S136L NM_133367.4 NP_588608.1 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member VIII 136 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2) 17 Lung NSC(77;0.0875) CAGTCCAAGTCAGAGCTCTCC 0.537000 33 215 0 0 0.027894 0 0 PRKD1 5587 broad.mit.edu 37 14 30108094 30108094 + Missense_Mutation SNP T T G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr14:30108094T>G ENST00000331968.5 - 5 942 c.713A>C c.(712-714)gAg>gCg p.E238A PRKD1_ENST00000551644.1_5'UTR|PRKD1_ENST00000415220.2_Missense_Mutation_p.E246A NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 238 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) AATAAACGACTCTGATGGTGA 0.338000 9 129 0 0 0.013537 0 0 CD244 51744 broad.mit.edu 37 1 160806015 160806015 + Frame_Shift_Del DEL C C - TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr1:160806015delC ENST00000368034.4 - 6 1041 c.864delG c.(862-864)ggfs p.G288fs CD244_ENST00000322302.7_Frame_Shift_Del_p.G196fs|CD244_ENST00000481677.1_Intron|CD244_ENST00000368033.3_Frame_Shift_Del_p.G293fs|CD244_ENST00000368032.2_Frame_Shift_Del_p.G288fs NM_001166663.1|NM_001166664.1|NM_016382.3 NP_001160135.1|NP_001160136.1|NP_057466.1 Q9BZW8 CD244_HUMAN CD244 molecule, natural killer cell receptor 2B4 293 blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 18 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) AGATGGTGCTCCCCCCTCCAG 0.507 19 49 --- --- --- --- RGPD3 653489 broad.mit.edu 37 2 107041229 107041230 + Frame_Shift_Ins INS - - C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr2:107041229_107041230insC ENST00000409886.3 - 20 3280_3281 c.3193_3194insG c.(3193-3195)aaafs p.K1065fs RGPD3_ENST00000304514.7_Frame_Shift_Ins_p.K1065fs NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1065 RanBD1 1. intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 AAATAGTTTTACCCCCTGTGAA 0.391 7 725 --- --- --- --- SCN10A 6336 broad.mit.edu 37 3 38738896 38738899 + Frame_Shift_Del DEL AGCT AGCT - TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:38738896_38738899delAGCT ENST00000449082.2 - 27 5811_5814 c.5812_5815delAGCT c.(5812-5817)cafs p.SS1938fs NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1938 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TTTTGTATTGAGCTAGATGTCCTC 0.475 59 264 --- --- --- --- IFRD2 7866 broad.mit.edu 37 3 50326997 50326998 + Frame_Shift_Ins INS - - C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr3:50326997_50326998insC ENST00000436390.1 - 10 1156_1157 c.659_660insG c.(658-660)gagfs p.E220fs IFRD2_ENST00000429673.2_Frame_Shift_Ins_p.E284fs|IFRD2_ENST00000417626.2_Frame_Shift_Ins_p.E220fs|IFRD2_ENST00000336089.4_Frame_Shift_Ins_p.E386fs Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 284 binding breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) TTGTGGAGCTGCCCCCCAAGCC 0.604 2 4 --- --- --- --- NKX3-2 579 broad.mit.edu 37 4 13545701 13545702 + Frame_Shift_Ins INS - - C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr4:13545701_13545702insC ENST00000382438.5 - 1 972_973 c.337_338insG c.(337-339)cagfs p.Q113fs NM_001189.3 NP_001180.1 P78367 NKX32_HUMAN NK3 homeobox 2 113 negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(1)|lung(4)|prostate(1) 7 ggccccgctggccccccgcgcg 0.743 2 4 --- --- --- --- MYO10 4651 broad.mit.edu 37 5 16701082 16701083 + Frame_Shift_Ins INS - - C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:16701082_16701083insC ENST00000513610.1 - 25 3875_3876 c.3421_3422insG c.(3421-3423)gcafs p.A1141fs MYO10_ENST00000505695.1_Frame_Shift_Ins_p.A480fs|MYO10_ENST00000274203.9_Frame_Shift_Ins_p.A498fs|MYO10_ENST00000427430.2_Frame_Shift_Ins_p.A498fs|MYO10_ENST00000515803.1_Frame_Shift_Ins_p.A480fs NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1141 axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity p.A1141V(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 CGAGGACTGCGCCCCCTCAGAG 0.609 2 4 --- --- --- --- PCDHA9 9752 broad.mit.edu 37 5 140229258 140229259 + Frame_Shift_Ins INS - - G rs138948867 byFrequency TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:140229258_140229259insG ENST00000378122.3 + 1 1902_1903 c.1178_1179insG c.(1177-1179)gccfs p.A393fs PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Frame_Shift_Ins_p.A393fs|PCDHA4_ENST00000530339.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGCCCCACGTCCCCTTCAAGC 0.569 7 85 --- --- --- --- ATP10B 23120 broad.mit.edu 37 5 160071224 160071224 + Frame_Shift_Del DEL G G - TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr5:160071224delG ENST00000327245.5 - 9 1635 c.789delC c.(787-789)ggfs p.G263fs NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 263 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CACAGCCAAAGCCAGTCCTGG 0.517 8 136 --- --- --- --- BAI3 577 broad.mit.edu 37 6 69349117 69349117 + Frame_Shift_Del DEL G G - TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr6:69349117delG ENST00000370598.1 + 3 1371 c.550delG c.(550-552)ggfs p.G184fs NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 184 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) ATCAGAAAATGGGAGAACAGA 0.418 47 206 --- --- --- --- RP11-10H3.1 0 broad.mit.edu 37 8 50103332 50103333 + RNA INS - - CTTC rs79172779 by1000genomes TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr8:50103332_50103333insCTTC ENST00000518222.1 + 0 271 ttccttccttcctttcttcctt 0.416 2 4 --- --- --- --- SHB 6461 broad.mit.edu 37 9 38068518 38068519 + Frame_Shift_Ins INS - - G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr9:38068518_38068519insG ENST00000377707.3 - 1 689_690 c.124_125insC c.(124-126)ggcfs p.G42fs RP11-613M10.9_ENST00000540557.1_Frame_Shift_Ins_p.G42fs|SHB_ENST00000377700.4_Frame_Shift_Ins_p.G42fs NM_003028.2 NP_003019.2 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein B 42 Mediates interaction with LAT, FAK1, JAK1 and JAK3. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1) 11 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) CGGCACGGCCTGGGGGGGCTGC 0.752 2 4 --- --- --- --- CUBN 8029 broad.mit.edu 37 10 17110603 17110603 + Splice_Site DEL C C - TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr10:17110603delC ENST00000377833.4 - 20 2857 c.e20+1 NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CAGTCTCTTACCCAAATCCTC 0.328 7 403 --- --- --- --- SCARB1 949 broad.mit.edu 37 12 125263027 125263028 + Frame_Shift_Ins INS - - G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:125263027_125263028insG ENST00000339570.5 - 12 1702_1703 c.1506_1507insC c.(1504-1509)ccgcccfs p.P503fs SCARB1_ENST00000376788.1_3'UTR|SCARB1_ENST00000415380.2_3'UTR|SCARB1_ENST00000261693.6_3'UTR NM_001082959.1 NP_001076428.1 Q8WTV0 SCRB1_HUMAN scavenger receptor class B, member 1 0 adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing caveola 1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1) 17 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395) Phosphatidylserine(DB00144) GCTGTGGGGCTGGGGGGCTGTC 0.683 2 4 --- --- --- --- ZNF10 7556 broad.mit.edu 37 12 133732811 133732812 + Frame_Shift_Ins INS - - T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr12:133732811_133732812insT ENST00000248211.6 + 5 1201_1202 c.979_980insT c.(979-981)aaafs p.K327fs ZNF10_ENST00000426665.2_Frame_Shift_Ins_p.K327fs|ZNF268_ENST00000416488.1_Intron|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000402932.2_Frame_Shift_Ins_p.K193fs NM_015394.4 NP_056209.2 P21506 ZNF10_HUMAN zinc finger protein 10 327 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) TAAAGAATGTGGAAAATCCTTC 0.411 23 135 --- --- --- --- TPTE2P1 646405 broad.mit.edu 37 13 25539162 25539163 + RNA INS - - AC rs57755956 TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr13:25539162_25539163insAC ENST00000429698.1 - 0 282 ACACAGAAAAGacacacacaca 0.406 2 4 --- --- --- --- FREM2 341640 broad.mit.edu 37 13 39446959 39446960 + Frame_Shift_Ins INS - - G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr13:39446959_39446960insG ENST00000280481.7 + 17 8280_8281 c.8064_8065insG c.(8062-8067)gtgaggfs p.R2689fs NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2689 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CCGTGGGGGTAGGAGGCTGGCA 0.495 9 238 --- --- --- --- SNORA11 677799 broad.mit.edu 37 14 70270922 70270922 + RNA DEL T T - rs11429169 TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr14:70270922delT ENST00000408133.1 - 0 126 ATGGATTCTCTTTTTTTTTTT 0.353 4 8 --- --- --- --- KIF26A 26153 broad.mit.edu 37 14 104642924 104642925 + Frame_Shift_Ins INS - - C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr14:104642924_104642925insC ENST00000315264.7 + 11 3760_3761 c.3382_3383insC c.(3382-3384)cccfs p.P1128fs KIF26A_ENST00000423312.2_Frame_Shift_Ins_p.P1267fs Q9ULI4 KI26A_HUMAN kinesin family member 26A 1267 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) CACACTTGGCTCCCCCCGGCTG 0.693 2 4 --- --- --- --- RP11-208K4.1 0 broad.mit.edu 37 15 48244722 48244725 + RNA DEL TGTG TGTG - rs34501558 TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr15:48244722_48244725delTGTG ENST00000560900.1 + 0 195 TAACCTCATCtgtgtgtgtgtgtg 0.431 2 4 --- --- --- --- TRIM25 7706 broad.mit.edu 37 17 54978829 54978830 + Frame_Shift_Ins INS - - T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr17:54978829_54978830insT ENST00000316881.4 - 4 1086_1087 c.1037_1038insA c.(1036-1038)agafs p.R346fs TRIM25_ENST00000537230.1_Frame_Shift_Ins_p.R346fs NM_005082.4 NP_005073.2 Q14258 TRI25_HUMAN tripartite motif containing 25 346 Interaction with influenza A virus NS1. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus cell junction|cytosol|nucleus sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(9;6.15e-08) GCTTCAGCTCGTTTTTGAGGTC 0.564 7 940 --- --- --- --- ZNF43 7594 broad.mit.edu 37 19 22001953 22001953 + Frame_Shift_Del DEL T T - TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:22001953delT ENST00000594012.1 - 5 570 c.56delA c.(55-57)cgfs p.Q20fs ZNF43_ENST00000598288.1_Frame_Shift_Del_p.Q20fs|ZNF43_ENST00000354959.4_Frame_Shift_Del_p.Q26fs|ZNF43_ENST00000595461.1_Frame_Shift_Del_p.Q20fs|ZNF43_ENST00000598381.1_Frame_Shift_Del_p.Q20fs NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 26 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) TAAATTCTGCTGTGCAATGTC 0.393 19 227 --- --- --- --- ZNF816 125893 broad.mit.edu 37 19 53453459 53453460 + Frame_Shift_Del DEL GT GT - TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr19:53453459_53453460delGT ENST00000357666.4 - 5 1868_1869 c.1568_1569delAC c.(1567-1569)cfs p.H523fs ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Frame_Shift_Del_p.H523fs NM_001031665.2 NP_001026835.1 Q0VGE8 ZN816_HUMAN zinc finger protein 816 523 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 GTCTTTCAAGGTGTGATCTGCG 0.406 9 221 --- --- --- --- IL10RB 3588 broad.mit.edu 37 21 34668489 34668489 + Splice_Site DEL T T - TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chr21:34668489delT ENST00000290200.2 + 7 913 c.804_splice c.e7-1 p.F269_splice NM_000628.4 NP_000619.3 interleukin 10 receptor, beta endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 CCCTCCACAGTTTTTGGGCCA 0.378 7 606 --- --- --- --- NRK 203447 broad.mit.edu 37 X 105152792 105152792 + Frame_Shift_Del DEL G G - TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6cb3d63-5a55-4eba-84d2-a25917c7b18e bff97ed8-5168-4367-8f15-29849ce29f87 g.chrX:105152792delG ENST00000428173.2 + 13 1465 c.1162delG c.(1162-1164)ggfs p.G388fs NRK_ENST00000243300.9_Frame_Shift_Del_p.G387fs Q7Z2Y5 NRK_HUMAN Nik related kinase 387 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 AGTCCTGCATGGGGAACCCTC 0.532 HNSCC(51;0.14) 15 95 --- --- --- ---