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 EEF1A1 1915 broad.mit.edu 37 6 74229717 74229717 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:74229717G>A ENST00000316292.9 - 1 1024 c.33C>T c.(31-33)gtC>gtT p.V11V EEF1A1_ENST00000331523.2_Silent_p.V11V|EEF1A1_ENST00000309268.6_Silent_p.V11V NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 11 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 GTCCAATGACGACAATGTTGA 0.418000 15 127 0 0 0.146539 0 0 TCTN1 79600 broad.mit.edu 37 12 111078307 111078307 + Silent SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:111078307G>C ENST00000551590.1 + 8 1119 c.963G>C c.(961-963)gtG>gtC p.V321V HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397655.3_Silent_p.V307V|TCTN1_ENST00000377654.3_Silent_p.V143V|TCTN1_ENST00000551555.2_3'UTR|TCTN1_ENST00000397659.4_Silent_p.V321V Q2MV58 TECT1_HUMAN tectonic family member 1 321 multicellular organismal development extracellular region NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1) 15 GCCTTTGCGTGAATGTTGTTC 0.542000 16 101 0 0 0.049695 0 0 ZER1 10444 broad.mit.edu 37 9 131515013 131515013 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:131515013C>T ENST00000291900.2 - 5 1268 c.862G>A c.(862-864)Ggc>Agc p.G288S NM_006336.2 NP_006327.2 Q7Z7L7 ZER1_HUMAN zyg-11 related, cell cycle regulator 288 ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 15 ATCATGTGGCCAGAGATGTCC 0.577000 3 78 0 0 0.115264 0 0 NDC1 55706 broad.mit.edu 37 1 54233687 54233687 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:54233687C>T ENST00000371429.3 - 18 2579 c.1981G>A c.(1981-1983)Gaa>Aaa p.E661K NDC1_ENST00000234725.8_Missense_Mutation_p.E546K|NDC1_ENST00000537333.1_Missense_Mutation_p.E326K|NDC1_ENST00000540001.1_3'UTR NM_001168551.1|NM_018087.4 NP_001162023.1|NP_060557.3 NDC1 transmembrane nucleoporin TTCTGATGTTCTGCAGATGCT 0.338000 9 73 0 0 0.080935 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84606906 84606906 + Silent SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:84606906C>G ENST00000344803.2 + 4 1568 c.1521C>G c.(1519-1521)ctC>ctG p.L507L NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 TCTGGGGTCTCCCATCTTTGC 0.438000 30 83 0 0 0.116897 0 0 GNAI1 2770 broad.mit.edu 37 7 79764544 79764544 + Missense_Mutation SNP T T C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:79764544T>C ENST00000351004.3 + 1 441 c.68T>C c.(67-69)cTc>cCc p.L23P GNAI1_ENST00000490206.1_3'UTR NM_002069.5 NP_002060.4 P63096 GNAI1_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 23 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody|nucleus G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 19 GACCGCAACCTCCGTGAGGAC 0.731000 9 12 0 0 0.058154 0 0 BBX 56987 broad.mit.edu 37 3 107492201 107492201 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:107492201G>A ENST00000415149.2 + 11 1960 c.1633G>A c.(1633-1635)Gac>Aac p.D545N BBX_ENST00000416476.2_Intron|BBX_ENST00000402543.1_Missense_Mutation_p.D545N|BBX_ENST00000325805.8_Missense_Mutation_p.D545N|BBX_ENST00000406780.1_Missense_Mutation_p.D545N NM_001142568.1|NM_020235.5 NP_001136040.1|NP_064620.2 Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 545 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) GAAATCCTCAGACACCACCAA 0.428000 20 54 0 0 0.098360 0 0 DST 667 broad.mit.edu 37 6 56470575 56470575 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:56470575C>T ENST00000370754.5 - 39 8751 c.8752G>A c.(8752-8754)Gaa>Aaa p.E2918K DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.E2414K|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Missense_Mutation_p.E2740K|DST_ENST00000370769.4_Missense_Mutation_p.E2740K|DST_ENST00000361203.3_Missense_Mutation_p.E2740K|DST_ENST00000370788.2_Intron Q03001 DYST_HUMAN dystonin 2740 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) GTACCTAATTCAGAAGTTGAA 0.333000 15 53 0 0 0.119110 0 0 ESPNP 284729 broad.mit.edu 37 1 17017742 17017742 + RNA SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:17017742G>A ENST00000492551.1 - 0 1985 NR_026567.1 TCCGCAGGAGGTCCCACCTCC 0.657000 6 28 0 0 0.029380 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36278704 36278704 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:36278704C>T ENST00000007510.4 + 21 3381 c.3237C>T c.(3235-3237)ctC>ctT p.L1079L ARHGAP33_ENST00000314737.5_Silent_p.L918L|ARHGAP33_ENST00000378944.5_Silent_p.L915L O14559 RHG33_HUMAN Rho GTPase activating protein 33 1079 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 CTGCACCACTCGACAGGGGAG 0.672000 39 100 0 0 0.086207 0 0 MARCH7 64844 broad.mit.edu 37 2 160604337 160604337 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:160604337C>T ENST00000259050.3 + 5 658 c.536C>T c.(535-537)tCa>tTa p.S179L MARCH7_ENST00000539065.1_Missense_Mutation_p.S123L|MARCH7_ENST00000409175.1_Missense_Mutation_p.S179L|MARCH7_ENST00000409591.1_Missense_Mutation_p.S141L|MARCH7_ENST00000473749.1_3'UTR NM_022826.2 NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase 179 Ser-rich. ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 AGAGTTCCTTCATATTCACAA 0.328000 58 67 0 0 0.139131 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:178936091G>A ENST00000263967.3 + 10 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(881)|p.E545Q(18) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 102 64 0 0 0.139131 0 0 GPKOW 27238 broad.mit.edu 37 X 48972603 48972603 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:48972603C>G ENST00000156109.5 - 7 1066 c.988G>C c.(988-990)Gag>Cag p.E330Q NM_015698.4 NP_056513.2 Q92917 GPKOW_HUMAN G patch domain and KOW motifs 330 nucleus nucleic acid binding breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2) 21 CGCTTCCTCTCTGAGTTGTCC 0.572000 11 126 0 0 0.105934 0 0 UPP2 151531 broad.mit.edu 37 2 158971685 158971685 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:158971685G>C ENST00000605860.1 + 6 470 c.424G>C c.(424-426)Gag>Cag p.E142Q UPP2_ENST00000005756.4_Missense_Mutation_p.E85Q|UPP2_ENST00000409859.4_Missense_Mutation_p.E142Q|UPP2_ENST00000460456.1_Intron O95045 UPP2_HUMAN uridine phosphorylase 2 85 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process cytosol|type III intermediate filament uridine phosphorylase activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 GCTCGGGTTTGAGGAAGCTGA 0.463000 15 179 0 0 0.146539 0 0 DPY19L2 283417 broad.mit.edu 37 12 63974572 63974572 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:63974572G>C ENST00000324472.4 - 19 1953 c.1770C>G c.(1768-1770)atC>atG p.I590M DPY19L2_ENST00000413230.2_Missense_Mutation_p.I37M NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 590 multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) AAATGCCAAAGATAACCTTCT 0.373000 29 86 0 0 0.134883 0 0 CRY1 1407 broad.mit.edu 37 12 107393468 107393468 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:107393468C>T ENST00000008527.5 - 7 1865 c.998G>A c.(997-999)gGc>gAc p.G333D NM_004075.3 NP_004066.1 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 333 FAD-binding. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1) 29 GCCTGTCCGGCCTTCCGCCCA 0.473000 27 45 0 0 0.099896 0 0 FGD1 2245 broad.mit.edu 37 X 54476730 54476730 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:54476730C>G ENST00000375135.3 - 13 2753 c.2020G>C c.(2020-2022)Gag>Cag p.E674Q NM_004463.2 NP_004454.2 P98174 FGD1_HUMAN FYVE, RhoGEF and PH domain containing 1 674 PH 1. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 TTCTCCTCCTCAGTCCTTGGG 0.478000 15 235 0 0 0.146539 0 0 NLRC5 84166 broad.mit.edu 37 16 57060138 57060138 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr16:57060138C>T ENST00000436936.1 + 6 1508 c.1283C>T c.(1282-1284)tCt>tTt p.S428F NLRC5_ENST00000308149.7_Missense_Mutation_p.S428F|NLRC5_ENST00000539144.1_Missense_Mutation_p.S428F|NLRC5_ENST00000262510.6_Missense_Mutation_p.S428F Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 428 NACHT. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) CCAGGCCAGTCTGTGGCCCTC 0.637000 72 111 0 0 0.139131 0 0 PTCHD3 374308 broad.mit.edu 37 10 27700799 27700799 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr10:27700799C>T ENST00000438700.3 - 2 1266 c.1149G>A c.(1147-1149)gtG>gtA p.V383V NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 383 SSD. spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 ACACAGGGATCACAGTCACAG 0.358000 10 58 0 0 0.069234 0 0 RASGRF2 5924 broad.mit.edu 37 5 80390809 80390809 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:80390809C>G ENST00000265080.4 + 12 1820 c.1753C>G c.(1753-1755)Cag>Gag p.Q585E NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 585 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|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TGACATCAGTCAGGTAAGAAA 0.383000 14 75 0 0 0.105934 0 0 FFAR2 2867 broad.mit.edu 37 19 35941408 35941408 + Silent SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:35941408C>G ENST00000599180.1 + 2 872 c.792C>G c.(790-792)ctC>ctG p.L264L FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Silent_p.L264L O15552 FFAR2_HUMAN free fatty acid receptor 2 264 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) TCAGTTCACTCAACGCCAGTC 0.582000 53 196 0 0 0.139131 0 0 SWAP70 23075 broad.mit.edu 37 11 9735026 9735026 + Missense_Mutation SNP T T C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:9735026T>C ENST00000318950.6 + 3 357 c.254T>C c.(253-255)tTt>tCt p.F85S SWAP70_ENST00000447399.2_Intron NM_015055.2 NP_055870.2 Q9UH65 SWP70_HUMAN SWAP switching B-cell complex 70kDa subunit 85 cytoplasm|lamellipodium|nucleus|plasma membrane calcium ion binding|DNA binding NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1) 11 all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649) CAAGACAACTTTGACAAGATT 0.358000 47 86 0 0 0.117977 0 0 LMLN 89782 broad.mit.edu 37 3 197712706 197712706 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:197712706G>C ENST00000330198.4 + 8 896 c.874G>C c.(874-876)Gat>Cat p.D292H LMLN_ENST00000420910.2_Missense_Mutation_p.D292H|LMLN_ENST00000482695.1_Missense_Mutation_p.D240H|LMLN_ENST00000332636.5_Missense_Mutation_p.D240H NM_033029.3 NP_149018.2 Q96KR4 LMLN_HUMAN leishmanolysin-like (metallopeptidase M8 family) 292 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) CCATGATAAAGATGGAAATCC 0.403000 26 278 0 0 0.054565 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29884920 29884920 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr16:29884920G>A ENST00000308713.5 - 13 2762 c.2235C>T c.(2233-2235)ctC>ctT p.L745L SEZ6L2_ENST00000346932.5_Silent_p.L631L|SEZ6L2_ENST00000350527.3_Silent_p.L675L|SEZ6L2_ENST00000537485.1_Silent_p.L701L NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 745 Sushi 4. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGTAGCAGGTGAGCATGGCTG 0.687000 11 65 0 0 0.080935 0 0 MXRA5 25878 broad.mit.edu 37 X 3228112 3228112 + Missense_Mutation SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:3228112C>A ENST00000217939.6 - 7 8286 c.8132G>T c.(8131-8133)tGc>tTc p.C2711F NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2711 Ig-like C2-type 11. 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) CTCCATCCTGCATACATAGGT 0.607000 36 112 3.11337e-16 3.36643e-16 0.054565 1 0 KIAA1279 26128 broad.mit.edu 37 10 70775627 70775627 + Nonsense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr10:70775627G>T ENST00000361983.4 + 7 1423 c.1321G>T c.(1321-1323)Gag>Tag p.E441* NM_015634.3 NP_056449.1 Q96EK5 KBP_HUMAN KIAA1279 441 cell differentiation|mitochondrial transport|nervous system development mitochondrion kinesin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 14 AACTGACATGGAGAGACGGTG 0.433000 64 127 6.56249e-45 7.38701e-45 0.139131 1 0 BOC 91653 broad.mit.edu 37 3 112968688 112968688 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:112968688G>T ENST00000495514.1 + 3 743 c.39G>T c.(37-39)agG>agT p.R13S BOC_ENST00000355385.3_Missense_Mutation_p.R13S|BOC_ENST00000484034.1_Missense_Mutation_p.R13S|BOC_ENST00000273395.4_Missense_Mutation_p.R13S|BOC_ENST00000485230.1_Missense_Mutation_p.R13S Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 13 cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) GAGGAATGAGGCCTGAGGTCA 0.552000 16 126 3.62473e-10 3.84362e-10 0.062417 1 0 PTPN13 5783 broad.mit.edu 37 4 87705639 87705639 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr4:87705639G>A ENST00000436978.1 + 38 6541 c.6061G>A c.(6061-6063)Gaa>Aaa p.E2021K PTPN13_ENST00000427191.2_Missense_Mutation_p.E1997K|PTPN13_ENST00000411767.2_Missense_Mutation_p.E2016K|PTPN13_ENST00000511467.1_Missense_Mutation_p.E2021K|PTPN13_ENST00000316707.6_Missense_Mutation_p.E1825K NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 2016 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) AGAAATAAATGAAATATCGTA 0.378000 4 37 0 0 0.009096 0 0 SOX14 8403 broad.mit.edu 37 3 137484129 137484129 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:137484129C>T ENST00000306087.1 + 1 551 c.503C>T c.(502-504)tCc>tTc p.S168F NM_004189.3 NP_004180.1 O95416 SOX14_HUMAN SRY (sex determining region Y)-box 14 168 negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent nucleus sequence-specific DNA binding large_intestine(2)|lung(12) 14 CCCTACGCGTCCACCCTGGGC 0.687000 9 11 0 0 0.058154 0 0 KCNJ15 3772 broad.mit.edu 37 21 39671931 39671931 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr21:39671931C>T ENST00000398930.1 + 4 1102 c.748C>T c.(748-750)Ctg>Ttg p.L250L KCNJ15_ENST00000328656.3_Silent_p.L250L|KCNJ15_ENST00000398932.1_Silent_p.L250L|KCNJ15_ENST00000398938.2_Silent_p.L250L|KCNJ15_ENST00000398934.1_Silent_p.L250L Q99712 IRK15_HUMAN potassium inwardly-rectifying channel, subfamily J, member 15 250 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 CTTCCTCATTCTGCCCATGAC 0.557000 35 66 0 0 0.059317 0 0 IFT140 9742 broad.mit.edu 37 16 1608111 1608111 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr16:1608111C>T ENST00000426508.2 - 19 2587 c.2224G>A c.(2224-2226)Gag>Aag p.E742K IFT140_ENST00000439987.2_5'UTR NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) 742 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) GGCTCCACCTCGTCTTCTCTG 0.567000 17 242 0 0 0.038395 0 0 HSPG2 3339 broad.mit.edu 37 1 22158995 22158995 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:22158995C>T ENST00000374695.3 - 81 11279 c.11200G>A c.(11200-11202)Gag>Aag p.E3734K NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 3734 Laminin G-like 1. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CACCGGAACTCGGGCCTTCCC 0.632000 16 103 0 0 0.146539 0 0 FAM47A 158724 broad.mit.edu 37 X 34148687 34148687 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:34148687G>A ENST00000346193.3 - 1 1760 c.1709C>T c.(1708-1710)tCg>tTg p.S570L NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 570 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 GGGAGGCTCCGAGAATTGATG 0.522000 10 125 0 0 0.058154 0 0 CFTR 1080 broad.mit.edu 37 7 117232003 117232003 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:117232003G>A ENST00000003084.6 + 14 1914 c.1782G>A c.(1780-1782)ctG>ctA p.L594L CFTR_ENST00000454343.1_Silent_p.L533L NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 594 ABC transporter 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TCTGTAAACTGATGGCTAACA 0.259000 Cystic Fibrosis 12 108 0 0 0.080935 0 0 MIA3 375056 broad.mit.edu 37 1 222801826 222801826 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:222801826G>C ENST00000344922.5 + 4 1289 c.1264G>C c.(1264-1266)Gat>Cat p.D422H MIA3_ENST00000344507.1_Missense_Mutation_p.D422H|MIA3_ENST00000344441.6_Missense_Mutation_p.D422H|MIA3_ENST00000470521.1_3'UTR NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 422 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) ATTAGTCCCAGATAGCAAACA 0.383000 16 144 0 0 0.132662 0 0 RPL4 6124 broad.mit.edu 37 15 66791763 66791763 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr15:66791763C>T ENST00000307961.6 - 10 1358 c.1266G>A c.(1264-1266)gaG>gaA p.E422E RPL4_ENST00000568588.1_Silent_p.E328E NM_000968.3 NP_000959.2 P36578 RL4_HUMAN ribosomal protein L4 422 Lys-rich. endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1) 17 CAGGCTTCTTCTCCTCTGTAG 0.413000 9 156 0 0 0.105934 0 0 SHC4 399694 broad.mit.edu 37 15 49176472 49176472 + Silent SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr15:49176472G>T ENST00000332408.4 - 4 1241 c.813C>A c.(811-813)ctC>ctA p.L271L NM_203349.3 NP_976224.3 Q6S5L8 SHC4_HUMAN SHC (Src homology 2 domain containing) family, member 4 271 PID. intracellular signal transduction cell junction|postsynaptic membrane breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 29 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) TCATCAATGTGAGACTGCATG 0.338000 18 63 2.94398e-08 3.09189e-08 0.043863 1 0 CENPO 79172 broad.mit.edu 37 2 25039552 25039552 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:25039552G>C ENST00000380834.2 + 6 1057 c.632G>C c.(631-633)aGa>aCa p.R211T CENPO_ENST00000260662.1_Missense_Mutation_p.R211T|CENPO_ENST00000395845.2_Intron|CENPO_ENST00000473706.1_Missense_Mutation_p.R205T Q9BU64 CENPO_HUMAN centromere protein O 211 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) CCCTTGCAGAGAAACCCACTG 0.493000 267 573 0 0 0.139131 0 0 GLS2 27165 broad.mit.edu 37 12 56865620 56865620 + Splice_Site SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:56865620C>T ENST00000311966.4 - 17 1867 c.1588_splice c.e17-1 p.G530_splice NM_013267.2 NP_037399.2 Q9UI32 GLSL_HUMAN glutaminase 2 (liver, mitochondrial) 530 cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TTCGATGTGTCCTAGGAATAT 0.483000 69 150 0 0 0.139131 0 0 NALCN 259232 broad.mit.edu 37 13 101756771 101756771 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr13:101756771C>T ENST00000251127.6 - 25 2845 c.2764G>A c.(2764-2766)Gag>Aag p.E922K NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 922 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) AACACATACTCAGCAATCTGA 0.423000 6 101 0 0 0.021553 0 0 AIM1L 55057 broad.mit.edu 37 1 26648788 26648788 + Silent SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:26648788C>G ENST00000527815.1 - 18 2191 c.2142G>C c.(2140-2142)gtG>gtC p.V714V AIM1L_ENST00000308182.5_Silent_p.V543V NM_001039775.3 NP_001034864.2 Q8N1P7 AIM1L_HUMAN absent in melanoma 1-like 543 sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) GGGGTCCAATCACCTGTAGGC 0.632000 7 98 0 0 0.029380 0 0 UNC5D 137970 broad.mit.edu 37 8 35631911 35631911 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr8:35631911G>T ENST00000287272.2 + 15 2386 c.2366G>T c.(2365-2367)aGa>aTa p.R789I UNC5D_ENST00000416672.1_Missense_Mutation_p.R863I|UNC5D_ENST00000449677.1_Missense_Mutation_p.R434I|UNC5D_ENST00000420357.1_Missense_Mutation_p.R791I|UNC5D_ENST00000404895.2_Missense_Mutation_p.R858I|UNC5D_ENST00000453357.2_Missense_Mutation_p.R853I Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 858 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TACTCCATCAGACAGCGGATT 0.473000 32 83 1.30897e-18 1.44382e-18 0.144211 1 0 MAP3K5 4217 broad.mit.edu 37 6 136888996 136888996 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:136888996G>A ENST00000359015.4 - 26 3894 c.3534C>T c.(3532-3534)ttC>ttT p.F1178F MAP3K5_ENST00000355845.4_Silent_p.F425F NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 1178 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) ATGCAAGGCTGAAATGTGGCC 0.408000 48 106 0 0 0.139131 0 0 P4HTM 54681 broad.mit.edu 37 3 49040007 49040007 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:49040007C>G ENST00000343546.4 + 4 1070 c.702C>G c.(700-702)atC>atG p.I234M P4HTM_ENST00000468374.1_3'UTR|P4HTM_ENST00000383729.4_Missense_Mutation_p.I234M NM_177938.2 NP_808807.2 Q9NXG6 P4HTM_HUMAN prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) 234 EF-hand 2. endoplasmic reticulum membrane|integral to membrane calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 21 Vitamin C(DB00126) ACGCCGCGATCAAGGCTGACC 0.562000 53 52 0 0 0.139131 0 0 PLXNA3 55558 broad.mit.edu 37 X 153689684 153689684 + Silent SNP C C T rs149751983 TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:153689684C>T ENST00000369682.3 + 3 1015 c.840C>T c.(838-840)atC>atT p.I280I NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 280 Sema. axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AATTCCCCATCGGCTGCTCCT 0.637000 27 198 0 0 0.139131 0 0 KIAA1407 57577 broad.mit.edu 37 3 113724682 113724682 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:113724682G>A ENST00000295878.3 - 10 1687 c.1541C>T c.(1540-1542)gCa>gTa p.A514V KIAA1407_ENST00000545063.1_Missense_Mutation_p.A345V NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 514 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 ATTGCCAGGTGCACTCAGAGA 0.542000 39 566 0 0 0.098360 0 0 CFAP221 200373 broad.mit.edu 37 2 120369265 120369265 + Nonsense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:120369265C>T ENST00000602047.1 + 14 1512 c.400C>T c.(400-402)Cag>Tag p.Q134* PCDP1_ENST00000413369.3_Nonsense_Mutation_p.Q420*|PCDP1_ENST00000597189.1_3'UTR Q4G0U5 PCDP1_HUMAN 420 cilium calmodulin binding Colorectal(110;0.196) TGAGGAATTTCAGCGACTTAA 0.333000 18 46 0 0 0.049695 0 0 KANTR 102723508 broad.mit.edu 37 X 53171977 53171977 + RNA SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:53171977G>C ENST00000604849.1 + 0 540 ATACATACCTGATGGCTAACC 0.488000 10 36 0 0 0.069234 0 0 FLG 2312 broad.mit.edu 37 1 152278805 152278805 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:152278805G>T ENST00000368799.1 - 3 8592 c.8557C>A c.(8557-8559)Cac>Aac p.H2853N FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2853 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) GACCCTGAGTGCCTGGAGCCG 0.572000 Ichthyosis 241 1212 3.38734e-80 3.84249e-80 0.139131 1 0 NXPH2 11249 broad.mit.edu 37 2 139429126 139429126 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:139429126C>T ENST00000272641.3 - 2 267 c.161G>A c.(160-162)aGt>aAt p.S54N NM_007226.2 NP_009157.1 O95156 NXPH2_HUMAN neurexophilin 2 54 II. neuropeptide signaling pathway extracellular region endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3) 22 BRCA - Breast invasive adenocarcinoma(221;0.101) GCGCAGGGGACTGATGATCCT 0.572000 89 179 0 0 0.139131 0 0 CRAMP1L 57585 broad.mit.edu 37 16 1706343 1706343 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr16:1706343G>A ENST00000397412.3 + 10 1684 c.1585G>A c.(1585-1587)Gaa>Aaa p.E529K CRAMP1L_ENST00000262317.4_Intron|LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.E529K|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.E526K Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 529 nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 GACCCCTGCAGAAGGCAGGGA 0.677000 10 19 0 0 0.069234 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077743 19077743 + Silent SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:19077743G>T ENST00000329773.2 - 2 294 c.207C>A c.(205-207)ctC>ctA p.L69L NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 69 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 CGGCCAGGCTGAGGACGTAGA 0.537000 13 123 6.31663e-08 6.60238e-08 0.132662 1 0 DBN1 1627 broad.mit.edu 37 5 176899143 176899143 + Missense_Mutation SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:176899143C>A ENST00000292385.5 - 2 678 c.69G>T c.(67-69)gaG>gaT p.E23D DBN1_ENST00000309007.5_Intron|DBN1_ENST00000393565.1_Intron NM_080881.2 NP_543157.1 Q16643 DREB_HUMAN drebrin 1 0 ADF-H. actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity actomyosin|cytoplasm|dendrite actin binding|profilin binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2) 25 all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025) 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) GAGCTTGTCTCTCGCGTCCAT 0.667000 8 50 2.74318e-10 2.92295e-10 0.058154 1 0 GALNTL5 168391 broad.mit.edu 37 7 151684344 151684344 + Silent SNP G G C rs140077291 TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:151684344G>C ENST00000392800.2 + 5 890 c.636G>C c.(634-636)ctG>ctC p.L212L GALNTL5_ENST00000431418.2_Silent_p.L212L NM_145292.3 NP_660335.2 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 212 Catalytic subdomain A. Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) GAGCAAGGCTGATTGGAGCTT 0.468000 22 69 0 0 0.062417 0 0 TFRC 7037 broad.mit.edu 37 3 195782122 195782122 + Silent SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:195782122C>G ENST00000360110.4 - 17 1897 c.1728G>C c.(1726-1728)ctG>ctC p.L576L TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Silent_p.L294L|TFRC_ENST00000420415.1_Silent_p.L495L|TFRC_ENST00000392396.3_Silent_p.L576L NM_001128148.1 NP_001121620.1 P02786 TFR1_HUMAN transferrin receptor 576 Ligand-binding. cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) TCCTCTCAATCAGTTCCTTAT 0.468000 T BCL6 NHL 40 312 0 0 0.098360 0 0 ZBTB20 26137 broad.mit.edu 37 3 114069347 114069347 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:114069347G>A ENST00000462705.1 - 11 2180 c.1359C>T c.(1357-1359)ttC>ttT p.F453F ZBTB20_ENST00000357258.3_Silent_p.F453F|ZBTB20_ENST00000393785.2_Silent_p.F453F|ZBTB20_ENST00000474710.1_Silent_p.F526F|ZBTB20_ENST00000481632.1_Silent_p.F453F|ZBTB20_ENST00000471418.1_Silent_p.F453F|ZBTB20_ENST00000464560.1_Silent_p.F453F NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 526 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) GTGGCAGGCTGAAGAGGAAAG 0.642000 32 170 0 0 0.064281 0 0 THBS3 7059 broad.mit.edu 37 1 155167907 155167907 + Silent SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:155167907G>T ENST00000368378.3 - 18 2199 c.2179C>A c.(2179-2181)Cgg>Agg p.R727R THBS3_ENST00000457183.2_Silent_p.R607R|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000428962.2_3'UTR|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000541576.1_Silent_p.R124R|THBS3_ENST00000541990.1_Silent_p.R256R NM_001252607.1|NM_007112.4 NP_001239536.1|NP_009043.1 P49746 TSP3_HUMAN thrombospondin 3 727 TSP C-terminal. cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TGATAGGCCCGAAAATCCGTA 0.552000 3 95 0.115264 0.116057 0.115264 1 0 GEMIN8 54960 broad.mit.edu 37 X 14038649 14038649 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:14038649G>A ENST00000380523.4 - 4 338 c.20C>T c.(19-21)tCa>tTa p.S7L GEMIN8_ENST00000398355.3_Missense_Mutation_p.S7L|GEMIN8_ENST00000460203.1_5'UTR NM_017856.2 NP_060326.1 Q9NWZ8 GEMI8_HUMAN gem (nuclear organelle) associated protein 8 7 spliceosomal snRNP assembly Cajal body|cytoplasm|SMN complex|spliceosomal complex protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 9 TTTCGATGTTGATGCCTACAA 0.408000 28 217 0 0 0.116897 0 0 POLR1E 64425 broad.mit.edu 37 9 37503070 37503070 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:37503070G>A ENST00000377792.3 + 11 1605 c.1317G>A c.(1315-1317)ctG>ctA p.L439L POLR1E_ENST00000442009.2_Silent_p.L307L|POLR1E_ENST00000377798.4_Silent_p.L377L Q9GZS1 RPA49_HUMAN polymerase (RNA) I polypeptide E, 53kDa 439 rRNA transcription cell junction|cytoplasm|nucleolus DNA binding|DNA-directed RNA polymerase activity|protein binding autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1) 12 GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229) CCATGAGGCTGAAGATCTCCA 0.542000 41 201 0 0 0.086207 0 0 NUP37 79023 broad.mit.edu 37 12 102492898 102492898 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:102492898G>A ENST00000552283.1 - 5 574 c.435C>T c.(433-435)gaC>gaT p.D145D NUP37_ENST00000543021.1_5'UTR|NUP37_ENST00000251074.1_Silent_p.D145D Q8NFH4 NUP37_HUMAN nucleoporin 37kDa 145 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding endometrium(3)|large_intestine(3)|lung(10)|ovary(1) 17 AGGTGTGATCGTCACTCACAC 0.343000 34 62 0 0 0.064281 0 0 FBXL13 222235 broad.mit.edu 37 7 102665558 102665558 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:102665558C>G ENST00000393772.2 - 6 873 c.447G>C c.(445-447)gaG>gaC p.E149D FBXL13_ENST00000379305.3_Missense_Mutation_p.E149D|FBXL13_ENST00000456695.1_Missense_Mutation_p.E149D|FBXL13_ENST00000455112.2_Missense_Mutation_p.E149D|FBXL13_ENST00000436908.1_Missense_Mutation_p.E149D|FBXL13_ENST00000379306.3_Missense_Mutation_p.E149D|FBXL13_ENST00000379308.3_Missense_Mutation_p.E149D|FBXL13_ENST00000313221.4_Missense_Mutation_p.E149D|FBXL13_ENST00000471074.1_5'UTR Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 149 p.E149E(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 ATTTTAGAGTCTCATCTACAA 0.333000 6 36 0 0 0.021553 0 0 SFN 2810 broad.mit.edu 37 1 27189782 27189782 + Missense_Mutation SNP A A G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:27189782A>G ENST00000339276.4 + 1 150 c.79A>G c.(79-81)Aaa>Gaa p.K27E NM_006142.3 NP_006133.1 P31947 1433S_HUMAN stratifin 27 DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria cytoplasm|extracellular space|nucleus protein domain specific binding|protein kinase C inhibitor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2) 9 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215) AGCCTTCATGAAAGGCGCCGT 0.617000 31 68 0 0 0.054565 0 0 NPY5R 4889 broad.mit.edu 37 4 164271639 164271639 + Nonsense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr4:164271639C>T ENST00000515560.1 + 4 1736 c.214C>T c.(214-216)Cag>Tag p.Q72* NPY5R_ENST00000338566.3_Nonsense_Mutation_p.Q72*|NPY5R_ENST00000506953.1_Nonsense_Mutation_p.Q72* Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 72 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) AAAGCGTAATCAGAAGACTAC 0.398000 84 335 0 0 0.139131 0 0 EFNA4 1945 broad.mit.edu 37 1 155039242 155039242 + Silent SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:155039242C>G ENST00000368409.3 + 2 243 c.150C>G c.(148-150)ctC>ctG p.L50L EFNA4_ENST00000359751.4_Silent_p.L50L|EFNA4_ENST00000427683.2_Silent_p.L50L|EFNA3_ENST00000556931.1_Intron|EFNA3_ENST00000505139.1_Intron NM_005227.2 NP_005218.1 ephrin-A4 breast(1)|endometrium(1)|large_intestine(1)|ovary(1) 4 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) AGCTGGGCCTCAACGATTACC 0.627000 25 48 0 0 0.091800 0 0 OR4K15 81127 broad.mit.edu 37 14 20444245 20444245 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:20444245C>G ENST00000305051.5 + 1 643 c.568C>G c.(568-570)Ctg>Gtg p.L190V NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 190 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) CACTGTTAATCTGCCATTTTG 0.438000 78 219 0 0 0.139131 0 0 PTPN23 25930 broad.mit.edu 37 3 47451515 47451515 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:47451515G>A ENST00000265562.4 + 20 2304 c.2227G>A c.(2227-2229)Gag>Aag p.E743K PTPN23_ENST00000431726.1_Missense_Mutation_p.E617K NM_015466.2 NP_056281.1 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 23 743 Pro-rich. cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AGACCCCCCTGAGGAGCTGCG 0.682000 9 6 0 0 0.069234 0 0 KANSL2 54934 broad.mit.edu 37 12 49075374 49075374 + Silent SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:49075374C>A ENST00000550347.1 - 1 634 c.591G>T c.(589-591)ggG>ggT p.G197G KANSL2_ENST00000420613.2_Silent_p.G14G|KANSL2_ENST00000357861.3_5'UTR|KANSL2_ENST00000553086.1_Silent_p.G14G Q9H9L4 CL041_HUMAN KAT8 regulatory NSL complex subunit 2 14 GAGTGATCCTCCCCCGATTGG 0.517000 12 86 7.93312e-07 8.2527e-07 0.119110 1 0 SLC9C2 284525 broad.mit.edu 37 1 173552647 173552647 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:173552647C>G ENST00000367714.3 - 6 1060 c.638G>C c.(637-639)aGa>aCa p.R213T SLC9C2_ENST00000536496.1_Missense_Mutation_p.R111T|RP3-436N22.3_ENST00000431459.1_RNA NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 213 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity GCTCCTACCTCTAAAAATAGA 0.294000 8 104 0 0 0.038147 0 0 TMEM132D 121256 broad.mit.edu 37 12 129566558 129566558 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:129566558C>G ENST00000422113.2 - 7 1995 c.1669G>C c.(1669-1671)Gag>Cag p.E557Q TMEM132D_ENST00000389441.4_Missense_Mutation_p.E95Q NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 557 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) TCCTCCTCCTCTTCACTGTCC 0.642000 18 96 0 0 0.069288 0 0 HOOK1 51361 broad.mit.edu 37 1 60331554 60331554 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:60331554C>T ENST00000371208.3 + 19 2012 c.1755C>T c.(1753-1755)atC>atT p.I585I HOOK1_ENST00000395561.2_Silent_p.I543I|HOOK1_ENST00000465876.1_3'UTR NM_015888.4 NP_056972.1 Q9UJC3 HOOK1_HUMAN hook microtubule-tethering protein 1 585 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport FHF complex|microtubule identical protein binding biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1) 29 all_cancers(7;0.000129) TACAAAAGATCAATGAACTTG 0.274000 31 50 0 0 0.144211 0 0 CABIN1 23523 broad.mit.edu 37 22 24439409 24439409 + Missense_Mutation SNP T T C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr22:24439409T>C ENST00000398319.2 + 6 774 c.389T>C c.(388-390)aTt>aCt p.I130T CABIN1_ENST00000405822.2_Missense_Mutation_p.I130T|CABIN1_ENST00000263119.5_Missense_Mutation_p.I130T NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 130 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 TGGTATAAGATTGGACATGTG 0.552000 43 111 0 0 0.139131 0 0 CPS1 1373 broad.mit.edu 37 2 211521293 211521293 + Silent SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:211521293C>A ENST00000233072.5 + 30 3799 c.3603C>A c.(3601-3603)gtC>gtA p.V1201V CPS1_ENST00000451903.2_Silent_p.V750V|CPS1_ENST00000430249.2_Silent_p.V1207V NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 1201 ATP-grasp 2. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) ATGCAGGTGTCCACTCGGGAG 0.413000 103 57 1.1777e-47 1.32907e-47 0.139131 1 0 SPZ1 84654 broad.mit.edu 37 5 79617264 79617264 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:79617264C>G ENST00000296739.4 + 1 1475 c.1230C>G c.(1228-1230)ttC>ttG p.F410L NM_032567.3 NP_115956.3 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 410 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2) 26 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) ATACCCAGTTCAATATTCATG 0.378000 24 86 0 0 0.116897 0 0 SSX1 6756 broad.mit.edu 37 X 48117190 48117190 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:48117190G>T ENST00000376919.3 + 3 215 c.79G>T c.(79-81)Gat>Tat p.D27Y NM_001278691.1|NM_005635.2 NP_001265620.1|NP_005626.1 Q16384 SSX1_HUMAN synovial sarcoma, X breakpoint 1 27 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|transcription corepressor activity SS18/SSX1(1169)|SS18L1/SSX1(2) endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 9 GGCCTTTGATGATATTGCCAC 0.388000 T SS18 synovial sarcoma 12 26 0.010729 0.0109029 0.080935 1 0 DCAF5 8816 broad.mit.edu 37 14 69520744 69520744 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:69520744C>T ENST00000341516.5 - 9 2806 c.2659G>A c.(2659-2661)Gaa>Aaa p.E887K DCAF5_ENST00000554215.1_Missense_Mutation_p.E805K|DCAF5_ENST00000557386.1_Missense_Mutation_p.E886K|DCAF5_ENST00000556847.1_Missense_Mutation_p.E805K NM_003861.2 NP_003852.1 Q96JK2 DCAF5_HUMAN DDB1 and CUL4 associated factor 5 887 CUL4 RING ubiquitin ligase complex breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2) 29 CAGGCCATTTCAGACCCGCAA 0.567000 19 193 0 0 0.055883 0 0 UGGT2 55757 broad.mit.edu 37 13 96592328 96592328 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr13:96592328C>G ENST00000376747.3 - 16 1765 c.1695G>C c.(1693-1695)aaG>aaC p.K565N NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 565 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 TTTGATCCTTCTTCACTTTTT 0.279000 5 126 0 0 0.014758 0 0 TTC17 55761 broad.mit.edu 37 11 43419614 43419614 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:43419614G>A ENST00000039989.4 + 8 1023 c.1009G>A c.(1009-1011)Gct>Act p.A337T TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.A337T NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 337 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 GAGGAAGCATGCTGTCCTATG 0.453000 31 74 0 0 0.050027 0 0 SERBP1 26135 broad.mit.edu 37 1 67889986 67889986 + Nonsense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:67889986G>A ENST00000370995.2 - 5 800 c.715C>T c.(715-717)Cag>Tag p.Q239* SERBP1_ENST00000370994.4_Intron|SERBP1_ENST00000484880.1_Intron|SERBP1_ENST00000370990.5_Nonsense_Mutation_p.Q233*|SERBP1_ENST00000361219.6_Intron Q8NC51 PAIRB_HUMAN SERPINE1 mRNA binding protein 1 239 regulation of mRNA stability nucleus|perinuclear region of cytoplasm mRNA 3'-UTR binding|protein binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2) 13 ATTTGTTTCTGAATGTATTTG 0.363000 10 117 0 0 0.058154 0 0 ZNF273 10793 broad.mit.edu 37 7 64363754 64363754 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:64363754G>A ENST00000476120.1 + 1 130 c.59G>A c.(58-60)aGa>aAa p.R20K ZNF273_ENST00000527278.1_Intron|ZNF273_ENST00000545510.1_5'UTR|ZNF273_ENST00000319636.5_Intron NM_021148.2 NP_066971.2 Q14593 ZN273_HUMAN zinc finger protein 273 20 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(55;0.0295)|all_lung(88;0.0691) GGTATTGGGAGATCCACAGCT 0.597000 49 90 0 0 0.139131 0 0 NRK 203447 broad.mit.edu 37 X 105149322 105149322 + Silent SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:105149322C>G ENST00000428173.2 + 10 1134 c.831C>G c.(829-831)gtC>gtG p.V277V NRK_ENST00000243300.9_Silent_p.V277V Q7Z2Y5 NRK_HUMAN Nik related kinase 277 Protein kinase. 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 CTCCCACAGTCAAATCCAGCG 0.373000 HNSCC(51;0.14) 6 35 0 0 0.021553 0 0 WNK3 65267 broad.mit.edu 37 X 54319739 54319739 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:54319739C>G ENST00000354646.2 - 9 2153 c.1715G>C c.(1714-1716)gGa>gCa p.G572A WNK3_ENST00000375159.2_Missense_Mutation_p.G572A|WNK3_ENST00000375169.3_Missense_Mutation_p.G572A NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 572 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 TGATGCAGCTCCTGCCTCAGA 0.393000 15 118 0 0 0.146539 0 0 PAG1 55824 broad.mit.edu 37 8 81905367 81905367 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr8:81905367G>A ENST00000220597.4 - 4 806 c.96C>T c.(94-96)ttC>ttT p.F32F NM_018440.3 NP_060910.3 Q9NWQ8 PAG1_HUMAN phosphoprotein associated with glycosphingolipid microdomains 1 32 epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding|SH3/SH2 adaptor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2) 11 Lung NSC(7;5.76e-06)|all_lung(9;2e-05) BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197) GGAAGATGAGGAAGGTGATGA 0.542000 3 56 0 0 0.009096 0 0 CLEC3B 7123 broad.mit.edu 37 3 45077096 45077096 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:45077096G>C ENST00000296130.4 + 3 469 c.289G>C c.(289-291)Gac>Cac p.D97H CLEC3B_ENST00000490386.1_3'UTR|CLEC3B_ENST00000428034.1_Missense_Mutation_p.D55H NM_003278.2 NP_003269.2 P05452 TETN_HUMAN C-type lectin domain family 3, member B 97 C-type lectin. skeletal system development extracellular space protein binding|sugar binding endometrium(1)|lung(3) 4 BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGCCAGCGAGGACTGCATCTC 0.632000 15 29 0 0 0.038395 0 0 ATF7IP 55729 broad.mit.edu 37 12 14649234 14649234 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:14649234G>A ENST00000544627.1 + 14 3694 c.3374G>A c.(3373-3375)gGa>gAa p.G1125E ATF7IP_ENST00000536444.1_Missense_Mutation_p.G1116E|ATF7IP_ENST00000540793.1_Missense_Mutation_p.G1117E|ATF7IP_ENST00000261168.4_Missense_Mutation_p.G1117E Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 1117 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 GGATCAACAGGACCTCAGCTC 0.388000 16 33 0 0 0.043863 0 0 OR51L1 119682 broad.mit.edu 37 11 5020494 5020494 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:5020494C>T ENST00000321543.1 + 1 282 c.282C>T c.(280-282)atC>atT p.I94I NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CTCCAGAGATCCAGGCAAGTG 0.478000 98 192 0 0 0.139131 0 0 BCL6 604 broad.mit.edu 37 3 187447044 187447044 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:187447044G>A ENST00000406870.2 - 5 1515 c.1149C>T c.(1147-1149)ctC>ctT p.L383L RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Silent_p.L383L|BCL6_ENST00000450123.2_Silent_p.L383L|RP11-211G3.3_ENST00000449623.1_Intron NM_001706.4 NP_001697.2 P41182 BCL6_HUMAN B-cell CLL/lymphoma 6 383 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 40 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) TGAGGCTGTTGAGCACGATGA 0.607000 """T, Mis""" """IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3""" """NHL, CLL""" 22 903 0 0 0.055883 0 0 DST 667 broad.mit.edu 37 6 56458614 56458614 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:56458614C>T ENST00000370754.5 - 48 12479 c.12480G>A c.(12478-12480)ttG>ttA p.L4160L DST_ENST00000421834.2_Silent_p.L1894L|DST_ENST00000446842.2_Silent_p.L3656L|DST_ENST00000244364.6_Silent_p.L1568L|DST_ENST00000312431.6_Silent_p.L3980L|DST_ENST00000370769.4_Silent_p.L3982L|DST_ENST00000361203.3_Silent_p.L3980L|DST_ENST00000370788.2_Silent_p.L1894L Q03001 DYST_HUMAN dystonin 3980 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) TGATGTATCTCAAGTCACCTT 0.438000 37 364 0 0 0.086207 0 0 IRGQ 126298 broad.mit.edu 37 19 44097009 44097009 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:44097009C>G ENST00000422989.1 - 3 1196 c.1041G>C c.(1039-1041)gaG>gaC p.E347D IRGQ_ENST00000601520.1_5'UTR|L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000602269.1_Missense_Mutation_p.E347D NM_001007561.2 NP_001007562.1 Q8WZA9 IRGQ_HUMAN immunity-related GTPase family, Q 347 protein binding endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3) 18 Prostate(69;0.0199) CCTTGGGATTCTCCATCTTGC 0.587000 8 359 0 0 0.047766 0 0 SLC26A8 116369 broad.mit.edu 37 6 35980010 35980010 + Splice_Site SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:35980010C>G ENST00000490799.1 - 3 681 c.328_splice c.e3+1 p.G110_splice SLC26A8_ENST00000394602.2_Splice_Site_p.G110_splice|SLC26A8_ENST00000355574.2_Splice_Site_p.G110_splice NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 110 cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 TCTTCCTTACCTTGGGGAACT 0.418000 28 454 0 0 0.125774 0 0 GNAT3 346562 broad.mit.edu 37 7 80091924 80091924 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:80091924C>G ENST00000398291.3 - 6 707 c.614G>C c.(613-615)aGa>aCa p.R205T CD36_ENST00000435819.1_Intron NM_001102386.1 NP_001095856.1 A8MTJ3 GNAT3_HUMAN guanine nucleotide binding protein, alpha transducing 3 205 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(1)|large_intestine(2)|lung(5)|ovary(1) 9 TCTCTCAGATCTCTGTCCACC 0.373000 5 101 0 0 0.014758 0 0 LRP6 4040 broad.mit.edu 37 12 12312019 12312019 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:12312019G>C ENST00000261349.4 - 12 2611 c.2535C>G c.(2533-2535)atC>atG p.I845M LRP6_ENST00000543091.1_Missense_Mutation_p.I845M NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 845 Beta-propeller 3. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) CCGTCCAGTAGATATAATCTT 0.483000 16 41 0 0 0.033300 0 0 KIF15 56992 broad.mit.edu 37 3 44844322 44844322 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:44844322G>C ENST00000326047.4 + 14 1675 c.1526G>C c.(1525-1527)aGa>aCa p.R509T KIF15_ENST00000425755.1_Missense_Mutation_p.R144T NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 509 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) CACCACCCCAGAGTTGCAAAG 0.383000 18 100 0 0 0.043863 0 0 FCGBP 8857 broad.mit.edu 37 19 40357470 40357470 + Silent SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:40357470G>C ENST00000221347.6 - 34 15850 c.15843C>G c.(15841-15843)gtC>gtG p.V5281V NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 5281 VWFD 13. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGCAGATCTGGACTTCGGCAA 0.572000 10 76 0 0 0.058154 0 0 LSS 4047 broad.mit.edu 37 21 47636350 47636350 + Missense_Mutation SNP C C T rs150614553 TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr21:47636350C>T ENST00000397728.3 - 7 814 c.736G>A c.(736-738)Gtt>Att p.V246I LSS_ENST00000522411.1_Missense_Mutation_p.V235I|LSS_ENST00000356396.4_Missense_Mutation_p.V246I|LSS_ENST00000464357.1_5'UTR|LSS_ENST00000457828.2_Missense_Mutation_p.V166I NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 246 cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) CTCAGCCGAACGGCGTAGCAG 0.652000 34 48 0 0 0.069456 0 0 TRPM5 29850 broad.mit.edu 37 11 2434782 2434782 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:2434782C>T ENST00000452833.1 - 13 1941 c.1933G>A c.(1933-1935)Gca>Aca p.A645T TRPM5_ENST00000155858.6_Missense_Mutation_p.A643T|TRPM5_ENST00000528453.1_Missense_Mutation_p.A643T|TRPM5_ENST00000533060.1_Missense_Mutation_p.A643T Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, subfamily M, member 5 643 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) GGCGTGCCTGCGGCCATGTCC 0.647000 6 31 0 0 0.038147 0 0 RGS14 10636 broad.mit.edu 37 5 176795809 176795809 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:176795809C>T ENST00000408923.3 + 9 1129 c.941C>T c.(940-942)tCc>tTc p.S314F NM_006480.4 NP_006471.2 O43566 RGS14_HUMAN regulator of G-protein signaling 14 314 Necessary for interaction with RABGEF1 (By similarity).|RBD 1. chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1) 12 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) 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) GGCACAGCCTCCTTGGCCCTG 0.592000 OREG0017086 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 41 0 0 0.125774 0 0 TMEM132B 114795 broad.mit.edu 37 12 126135268 126135268 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:126135268G>C ENST00000299308.3 + 7 1676 c.1668G>C c.(1666-1668)aaG>aaC p.K556N TMEM132B_ENST00000535886.1_Missense_Mutation_p.K68N NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 556 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) ATGAGGAGAAGAAGGGACGAG 0.552000 4 103 0 0 0.009096 0 0 RPP30 10556 broad.mit.edu 37 10 92655643 92655643 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr10:92655643G>C ENST00000413330.1 + 9 621 c.586G>C c.(586-588)Gaa>Caa p.E196Q RPP30_ENST00000371703.3_Missense_Mutation_p.E196Q|RPP30_ENST00000489806.1_3'UTR NM_001104546.1 NP_001098016.1 P78346 RPP30_HUMAN ribonuclease P/MRP 30kDa subunit 196 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 8 TCAGCCTTTAGAAATAAGAGG 0.274000 15 127 0 0 0.043863 0 0 TUBAL3 79861 broad.mit.edu 37 10 5435546 5435546 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr10:5435546G>C ENST00000380419.3 - 4 1312 c.1275C>G c.(1273-1275)ttC>ttG p.F425L TUBAL3_ENST00000479328.1_Missense_Mutation_p.F385L NM_024803.2 NP_079079.1 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 425 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3) 25 TGGCCTCCAAGAACTCTGCTT 0.532000 12 92 0 0 0.093190 0 0 LRIT2 340745 broad.mit.edu 37 10 85982250 85982250 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr10:85982250G>C ENST00000372113.4 - 3 1084 c.1079C>G c.(1078-1080)tCg>tGg p.S360W LRIT2_ENST00000538192.1_Missense_Mutation_p.S370W NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 360 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 ATTGCCCTCCGAGGGGATGGA 0.552000 3 61 0 0 0.115264 0 0 KMT2E 55904 broad.mit.edu 37 7 104702697 104702697 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:104702697C>T ENST00000334877.4 + 4 692 c.158C>T c.(157-159)tCa>tTa p.S53L KMT2E_ENST00000476671.1_Missense_Mutation_p.S53L|KMT2E_ENST00000257745.4_Missense_Mutation_p.S53L|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000311117.3_Missense_Mutation_p.S53L lysine (K)-specific methyltransferase 2E TCACATCATTCACACAGTTAC 0.398000 59 221 0 0 0.139131 0 0 RFFL 117584 broad.mit.edu 37 17 33348692 33348692 + Nonsense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:33348692G>A ENST00000315249.7 - 3 511 c.289C>T c.(289-291)Cag>Tag p.Q97* RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000268850.7_Nonsense_Mutation_p.Q97*|RFFL_ENST00000584655.1_Nonsense_Mutation_p.Q97*|RFFL_ENST00000415395.2_Nonsense_Mutation_p.Q97*|RFFL_ENST00000378516.2_Nonsense_Mutation_p.Q97*|RFFL_ENST00000447669.2_Nonsense_Mutation_p.Q97*|RFFL_ENST00000413582.2_Nonsense_Mutation_p.Q97*|RFFL_ENST00000394597.2_Nonsense_Mutation_p.Q97* Q8WZ73 RFFL_HUMAN ring finger and FYVE-like domain containing E3 ubiquitin protein ligase 97 apoptosis membrane ligase activity|zinc ion binding kidney(1)|large_intestine(2)|lung(3) 6 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) TCCTCTCGCTGAAAGGCTGTA 0.512000 16 128 0 0 0.043863 0 0 WTAP 9589 broad.mit.edu 37 6 160176375 160176375 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:160176375G>A ENST00000358372.4 + 8 2680 c.923G>A c.(922-924)gGg>gAg p.G308E SOD2_ENST00000546087.1_Intron NM_001270531.1|NM_004906.4 NP_001257460.1|NP_004897.2 Q15007 FL2D_HUMAN Wilms tumor 1 associated protein 308 cell cycle|mRNA processing|RNA splicing nuclear membrane|nucleolus central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 18 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) TCTTCTCCAGGGAATGGTAAT 0.507000 30 71 0 0 0.116897 0 0 PLD1 5337 broad.mit.edu 37 3 171431715 171431715 + Silent SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:171431715C>G ENST00000356327.5 - 9 949 c.879G>C c.(877-879)acG>acC p.T293T PLD1_ENST00000342215.6_Silent_p.T293T|PLD1_ENST00000351298.4_Silent_p.T293T|PLD1_ENST00000340989.4_Silent_p.T293T NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 293 PH. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity p.T293T(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) TTCCATATTTCGTTTCTGTCT 0.338000 215 145 0 0 0.139131 0 0 CAPZA1 829 broad.mit.edu 37 1 113212164 113212164 + Splice_Site SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:113212164G>T ENST00000263168.3 + 9 1329 c.e9-1 CAPZA1_ENST00000476936.1_Splice_Site NM_006135.2 NP_006126.1 P52907 CAZA1_HUMAN capping protein (actin filament) muscle Z-line, alpha 1 actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly cytosol|extracellular region|F-actin capping protein complex|WASH complex actin binding breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1) 9 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCCTTCATTAGAATGAAGCCC 0.323000 15 68 1.52009e-12 1.62761e-12 0.132662 1 0 FLOT2 2319 broad.mit.edu 37 17 27209040 27209040 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:27209040C>T ENST00000394906.2 - 10 948 c.871G>A c.(871-873)Gag>Aag p.E291K FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Missense_Mutation_p.E236K|FLOT2_ENST00000394908.4_Missense_Mutation_p.E236K Q14254 FLOT2_HUMAN flotillin 2 236 cell adhesion|epidermis development cell surface|endocytic vesicle|endosome|membrane fraction endometrium(3)|lung(6)|prostate(1)|urinary_tract(1) 11 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) AACTGGGCCTCAGCTGTCTGT 0.572000 18 54 0 0 0.033300 0 0 TUBAL3 79861 broad.mit.edu 37 10 5437411 5437411 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr10:5437411G>A ENST00000380419.3 - 3 312 c.275C>T c.(274-276)tCa>tTa p.S92L TUBAL3_ENST00000479328.1_Missense_Mutation_p.S52L NM_024803.2 NP_079079.1 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 92 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3) 25 GTGGAAGAGTGAACGGTGCTG 0.592000 32 225 0 0 0.050027 0 0 SMOC2 64094 broad.mit.edu 37 6 169053734 169053734 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:169053734G>A ENST00000354536.5 + 11 1364 c.1144G>A c.(1144-1146)Gaa>Aaa p.E382K SMOC2_ENST00000356284.2_Missense_Mutation_p.E371K NM_022138.2 NP_071421.1 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 371 EF-hand 1. signal transduction basement membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) CGGCAAAAAGGAAATCAAACC 0.443000 34 103 0 0 0.050027 0 0 ZNF486 90649 broad.mit.edu 37 19 20308540 20308540 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:20308540G>C ENST00000335117.8 + 4 1078 c.1021G>C c.(1021-1023)Gag>Cag p.E341Q CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA NM_052852.3 NP_443084.2 Q96H40 ZN486_HUMAN zinc finger protein 486 341 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 TAGTAAACATGAGAAGATTCA 0.398000 23 53 0 0 0.062417 0 0 POLR2A 5430 broad.mit.edu 37 17 7417029 7417029 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:7417029C>G ENST00000322644.6 + 29 5845 c.5446C>G c.(5446-5448)Cca>Gca p.P1816A NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 1816 52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN]. mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) ACCACAGTCTCCAACCTATAC 0.577000 146 279 0 0 0.139131 0 0 HCRTR2 3062 broad.mit.edu 37 6 55113511 55113511 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:55113511G>T ENST00000370862.3 + 2 634 c.298G>T c.(298-300)Gat>Tat p.D100Y NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 100 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TTCTCTGGCTGATGTGCTCGT 0.453000 32 235 6.00712e-18 6.60934e-18 0.050027 1 0 SFN 2810 broad.mit.edu 37 1 27190331 27190331 + Nonsense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:27190331G>T ENST00000339276.4 + 1 699 c.628G>T c.(628-630)Gag>Tag p.E210* NM_006142.3 NP_006133.1 P31947 1433S_HUMAN stratifin 210 DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria cytoplasm|extracellular space|nucleus protein domain specific binding|protein kinase C inhibitor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2) 9 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215) CACCCTCAGCGAGGACTCCTA 0.617000 50 114 3.86236e-30 4.32545e-30 0.139131 1 0 OR4N2 390429 broad.mit.edu 37 14 20295739 20295739 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:20295739C>T ENST00000568211.1 + 1 132 c.132C>T c.(130-132)ctC>ctT p.L44L OR4N2_ENST00000315947.1_Silent_p.L44L Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GAAATTTTCTCATTATTTTCA 0.448000 118 271 0 0 0.139131 0 0 COL6A6 131873 broad.mit.edu 37 3 130361868 130361868 + Splice_Site SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:130361868G>A ENST00000358511.6 + 30 5258 c.e30+1 COL6A6_ENST00000453409.2_Splice_Site NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GACCGCAGTCGTAAGTACCCT 0.393000 13 80 0 0 0.038395 0 0 KIAA1456 57604 broad.mit.edu 37 8 12878578 12878578 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr8:12878578C>T ENST00000524591.2 + 5 879 c.390C>T c.(388-390)gtC>gtT p.V130V KIAA1456_ENST00000447063.2_Intron NM_001099677.1|NM_020844.2 NP_001093147.1|NP_065895.2 Q9P272 K1456_HUMAN KIAA1456 130 methyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 TGGCCAGGGTCTTAGTTCCCG 0.418000 3 20 0 0 0.115264 0 0 TCP1 6950 broad.mit.edu 37 6 160200096 160200096 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:160200096G>A ENST00000321394.7 - 12 1932 c.1652C>T c.(1651-1653)tCt>tTt p.S551F ACAT2_ENST00000541436.1_3'UTR|TCP1_ENST00000544255.1_Missense_Mutation_p.S327F|TCP1_ENST00000392168.2_Missense_Mutation_p.S396F|TCP1_ENST00000420894.2_3'UTR NM_030752.2 NP_110379.2 P17987 TCPA_HUMAN t-complex 1 551 'de novo' posttranslational protein folding|tubulin complex assembly cell junction|Golgi apparatus ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(2) 10 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) AAGGGCTCCAGAGTGAACAGC 0.318000 22 90 0 0 0.083992 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79058055 79058055 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr15:79058055C>T ENST00000388820.4 - 19 4408 c.4198G>A c.(4198-4200)Gaa>Aaa p.E1400K NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1400 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 GGCCCCGCTTCAGCCAGGCTG 0.692000 15 154 0 0 0.146539 0 0 ZNF628 89887 broad.mit.edu 37 19 55994342 55994342 + Missense_Mutation SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:55994342C>A ENST00000598519.1 + 3 2335 c.1782C>A c.(1780-1782)ttC>ttA p.F594L ZNF628_ENST00000391718.2_Missense_Mutation_p.F590L NM_033113.2 NP_149104.3 Q5EBL2 ZN628_HUMAN zinc finger protein 628 590 nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|lung(2) 7 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0531) AGCGGCCCTTCCGCTGCCCGC 0.711000 4 29 0.00909568 0.00926451 0.009096 1 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 82 0 0 0.009096 0 0 BBX 56987 broad.mit.edu 37 3 107492169 107492169 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:107492169G>C ENST00000415149.2 + 11 1928 c.1601G>C c.(1600-1602)aGa>aCa p.R534T BBX_ENST00000416476.2_Intron|BBX_ENST00000402543.1_Missense_Mutation_p.R534T|BBX_ENST00000325805.8_Missense_Mutation_p.R534T|BBX_ENST00000406780.1_Missense_Mutation_p.R534T NM_001142568.1|NM_020235.5 NP_001136040.1|NP_064620.2 Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 534 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) GTGAAATCAAGAGAGAAGAAA 0.438000 7 51 0 0 0.104719 0 0 PTPRS 5802 broad.mit.edu 37 19 5274263 5274263 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:5274263G>A ENST00000372412.4 - 3 417 c.184C>T c.(184-186)Cca>Tca p.P62S PTPRS_ENST00000357368.4_Missense_Mutation_p.P62S|PTPRS_ENST00000587303.1_Missense_Mutation_p.P62S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.P62S|PTPRS_ENST00000590509.1_Missense_Mutation_p.P62S|PTPRS_ENST00000592099.1_Missense_Mutation_p.P62S|PTPRS_ENST00000262963.6_Missense_Mutation_p.P62S|PTPRS_ENST00000353284.2_Missense_Mutation_p.P62S|PTPRS_ENST00000348075.2_Missense_Mutation_p.P62S Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 62 Ig-like C2-type 1. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GTCACTCGTGGCTTGGGGTCA 0.607000 20 50 0 0 0.049695 0 0 CCDC141 285025 broad.mit.edu 37 2 179733905 179733905 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:179733905C>G ENST00000420890.2 - 15 2450 c.2333G>C c.(2332-2334)aGa>aCa p.R778T CCDC141_ENST00000295723.5_Missense_Mutation_p.R203T NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 203 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) ATCCTGGATTCTCTCTTTCTG 0.418000 6 254 0 0 0.021553 0 0 GRPR 2925 broad.mit.edu 37 X 16142343 16142343 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:16142343C>T ENST00000380289.2 + 1 665 c.267C>T c.(265-267)ctC>ctT p.L89L NM_005314.2 NP_005305.1 P30550 GRPR_HUMAN gastrin-releasing peptide receptor 89 cell proliferation integral to plasma membrane bombesin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3) 25 Hepatocellular(33;0.183) ACCTGCTCCTCCTAATAACGT 0.483000 OREG0019682 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 349 0 0 0.125774 0 0 PDE3A 5139 broad.mit.edu 37 12 20806970 20806970 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:20806970C>G ENST00000359062.3 + 15 3055 c.3015C>G c.(3013-3015)atC>atG p.I1005M PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 1005 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) AATCCTTCATCTCTCACATTG 0.498000 11 75 0 0 0.069234 0 0 MLLT4 4301 broad.mit.edu 37 6 168276155 168276155 + Nonsense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:168276155C>G ENST00000366806.2 + 5 861 c.719C>G c.(718-720)tCa>tGa p.S240* MLLT4_ENST00000392112.1_Nonsense_Mutation_p.S239*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.S240*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.S239*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.S240*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.S240*|MLLT4_ENST00000447894.2_Nonsense_Mutation_p.S240* P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 240 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) TTTCGGAGCTCAGATGGGCGG 0.438000 T MLL AL 53 341 0 0 0.139131 0 0 SORBS2 8470 broad.mit.edu 37 4 186545444 186545444 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr4:186545444G>A ENST00000431808.1 - 14 1690 c.1127C>T c.(1126-1128)tCt>tTt p.S376F SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.S476F|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.S376F|SORBS2_ENST00000418609.1_Missense_Mutation_p.S280F|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000449407.2_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 376 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) GATTTTGGGAGAGACGGTTTC 0.537000 42 77 0 0 0.111260 0 0 HDAC11 79885 broad.mit.edu 37 3 13538259 13538259 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:13538259C>T ENST00000295757.3 + 4 459 c.276C>T c.(274-276)atC>atT p.I92I HDAC11_ENST00000437379.2_Silent_p.I64I|HDAC11_ENST00000433119.1_Silent_p.I64I|HDAC11_ENST00000522202.1_Intron|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000446613.2_Intron NM_024827.3 NP_079103.2 Q96DB2 HDA11_HUMAN histone deacetylase 11 92 Histone deacetylase. regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex|plasma membrane histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3) 13 TTGCTACCATCACAGAAATCC 0.572000 OREG0015411 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 87 0 0 0.014758 0 0 RXRB 6257 broad.mit.edu 37 6 33165572 33165572 + Nonsense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:33165572G>A ENST00000374680.3 - 4 998 c.787C>T c.(787-789)Cag>Tag p.Q263* RXRB_ENST00000374685.4_Nonsense_Mutation_p.Q263*|RXRB_ENST00000544186.1_Nonsense_Mutation_p.Q73*|RXRB_ENST00000413614.2_Nonsense_Mutation_p.Q167* NM_001270401.1|NM_021976.4 NP_001257330.1|NP_068811.1 P28702 RXRB_HUMAN retinoid X receptor, beta 263 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2) 15 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) AGGCACTTCTGATAGCGGCAG 0.577000 6 69 0 0 0.038147 0 0 ZIK1 284307 broad.mit.edu 37 19 58101557 58101557 + Silent SNP T T G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:58101557T>G ENST00000597850.1 + 4 593 c.378T>G c.(376-378)gtT>gtG p.V126V ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Silent_p.V113V|ZIK1_ENST00000599456.1_Silent_p.V71V NM_001010879.2 NP_001010879.2 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 1 126 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CATACTTGGTTGGAGAATGTA 0.463000 41 84 0 0 0.117977 0 0 POLR3A 11128 broad.mit.edu 37 10 79753020 79753020 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr10:79753020C>G ENST00000372371.3 - 20 2859 c.2722G>C c.(2722-2724)Gat>Cat p.D908H NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 908 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 DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) GCTGCAGGATCTAAGCCATCT 0.413000 19 228 0 0 0.055883 0 0 EIF1 10209 broad.mit.edu 37 17 39847033 39847033 + Splice_Site SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:39847033G>A ENST00000469257.1 + 4 443 c.e4-1 EIF1_ENST00000591776.1_Splice_Site|EIF1_ENST00000310837.4_Splice_Site|JUP_ENST00000540235.1_Intron P41567 EIF1_HUMAN eukaryotic translation initiation factor 1 regulation of translational initiation|response to stress cytoplasm translation initiation factor activity haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1) 5 Breast(137;0.000307) BRCA - Breast invasive adenocarcinoma(4;0.0677) TGTCTTTTCAGATTGGACTGG 0.443000 37 120 0 0 0.092188 0 0 SRSF5 6430 broad.mit.edu 37 14 70235606 70235606 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:70235606G>A ENST00000553521.1 + 5 1742 c.289G>A c.(289-291)Gat>Aat p.D97N SRSF5_ENST00000554021.1_Missense_Mutation_p.D97N|SRSF5_ENST00000555349.1_Missense_Mutation_p.D97N|SRSF5_ENST00000394366.2_Missense_Mutation_p.D97N|SRSF5_ENST00000553548.1_Missense_Mutation_p.D97N|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000557154.1_Missense_Mutation_p.D97N|SRSF5_ENST00000451983.2_Missense_Mutation_p.D97N|SRSF5_ENST00000553635.1_Missense_Mutation_p.D94N Q13243 SRSF5_HUMAN serine/arginine-rich splicing factor 5 97 mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding large_intestine(1)|liver(1) 2 ACCTCGAAATGATAGACGGTA 0.453000 28 108 0 0 0.125774 0 0 TUBBP1 92755 broad.mit.edu 37 8 30209896 30209896 + RNA SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr8:30209896G>C ENST00000518096.1 + 0 508 GAAGGAGGCAGAGAGCTGTGA 0.582000 21 74 0 0 0.055883 0 0 NLE1 54475 broad.mit.edu 37 17 33469078 33469078 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:33469078G>A ENST00000442241.4 - 2 121 c.82C>T c.(82-84)Ctg>Ttg p.L28L NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000360831.5_Silent_p.L28L|NLE1_ENST00000586869.1_5'UTR NM_001014445.1|NM_018096.3 NP_001014445.1|NP_060566.2 Q9NVX2 NLE1_HUMAN notchless homolog 1 (Drosophila) 28 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) GAACCCAGCAGCTGCCCGCCC 0.687000 7 26 0 0 0.029380 0 0 SLC6A13 6540 broad.mit.edu 37 12 351877 351877 + Silent SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:351877G>C ENST00000343164.4 - 4 433 c.381C>G c.(379-381)gtC>gtG p.V127V SLC6A13_ENST00000445055.2_Intron NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 127 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) TGATGTAGTAGACGTTGAGGA 0.577000 4 11 0 0 0.009096 0 0 SMG7 9887 broad.mit.edu 37 1 183511286 183511286 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:183511286C>T ENST00000367537.3 + 15 1773 c.1578C>T c.(1576-1578)ccC>ccT p.P526P SMG7_ENST00000347615.2_Silent_p.P497P|SMG7_ENST00000515829.2_Silent_p.P497P|SMG7_ENST00000507469.1_Silent_p.P497P|SMG7_ENST00000456731.2_Silent_p.P455P|SMG7_ENST00000508461.1_Silent_p.P455P Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 497 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 TGGAAGACCCCAGTGAAGCCA 0.418000 107 200 0 0 0.139131 0 0 ASZ1 136991 broad.mit.edu 37 7 117060270 117060270 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:117060270C>T ENST00000284629.2 - 4 449 c.387G>A c.(385-387)ttG>ttA p.L129L NM_130768.2 NP_570124.1 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper domain containing 1 129 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1) 24 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) CTACACACTTCAAGATCTGTT 0.338000 18 120 0 0 0.069288 0 0 ZNF142 7701 broad.mit.edu 37 2 219510998 219510998 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:219510998C>T ENST00000411696.2 - 6 2126 c.1347G>A c.(1345-1347)ctG>ctA p.L449L ZNF142_ENST00000449707.1_Silent_p.L449L P52746 ZN142_HUMAN zinc finger protein 142 449 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TGGAGTGGGTCAGCATGTGCT 0.527000 22 70 0 0 0.055883 0 0 BMP15 9210 broad.mit.edu 37 X 50659550 50659550 + Silent SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:50659550G>T ENST00000252677.3 + 2 1122 c.1122G>T c.(1120-1122)ggG>ggT p.G374G NM_005448.2 NP_005439.2 O95972 BMP15_HUMAN bone morphogenetic protein 15 374 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1) 26 Ovarian(276;0.236) AGGCAAATGGGAGTATTTTGT 0.468000 61 208 4.96213e-28 5.54294e-28 0.139131 1 0 AGO1 26523 broad.mit.edu 37 1 36384759 36384759 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:36384759G>T ENST00000373204.4 + 18 2582 c.2369G>T c.(2368-2370)cGa>cTa p.R790L AGO1_ENST00000373206.1_Missense_Mutation_p.R715L NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 ACTTACGTACGATGCACACGC 0.552000 17 35 4.75885e-15 5.12043e-15 0.033300 1 0 ZNF559 84527 broad.mit.edu 37 19 9452472 9452472 + Silent SNP A A G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:9452472A>G ENST00000393883.2 + 6 993 c.345A>G c.(343-345)agA>agG p.R115R ZNF559_ENST00000603380.1_Silent_p.R115R|ZNF559_ENST00000587557.1_Silent_p.R179R|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000585352.1_3'UTR|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Silent_p.R35R|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000592896.1_3'UTR|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592504.1_3'UTR|ZNF177_ENST00000446085.4_Intron NM_001202412.1 NP_001189341.1 Q9BR84 ZN559_HUMAN zinc finger protein 559 115 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1) 26 CTTACTTTAGAAAGAAAACCT 0.373000 10 82 0 0 0.069234 0 0 USH2A 7399 broad.mit.edu 37 1 215848781 215848781 + Nonsense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:215848781G>A ENST00000366943.2 - 63 12858 c.12472C>T c.(12472-12474)Cag>Tag p.Q4158* USH2A_ENST00000307340.3_Nonsense_Mutation_p.Q4158* O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4158 Fibronectin type-III 27. 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) GGAGCCAGCTGAGAGTCTGGA 0.532000 HNSCC(13;0.011) 6 70 0 0 0.029380 0 0 PPFIA1 8500 broad.mit.edu 37 11 70170534 70170534 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:70170534C>T ENST00000253925.7 + 3 506 c.291C>T c.(289-291)ctC>ctT p.L97L AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.L97L NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 97 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) CTAAAGAACTCAATGTATGCA 0.403000 20 341 0 0 0.043863 0 0 OR6B3 150681 broad.mit.edu 37 2 240985469 240985469 + Silent SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:240985469G>C ENST00000319423.4 - 1 20 c.21C>G c.(19-21)acC>acG p.T7T NM_173351.1 NP_775486.1 Q8NGW1 OR6B3_HUMAN olfactory receptor, family 6, subfamily B, member 3 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1) 18 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) TGCCGACCCTGGTGACATTCT 0.602000 29 19 0 0 0.134883 0 0 ABCB1 5243 broad.mit.edu 37 7 87214929 87214929 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:87214929C>T ENST00000265724.3 - 5 602 c.185G>A c.(184-186)gGg>gAg p.G62E ABCB1_ENST00000543898.1_Missense_Mutation_p.G62E NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 62 ABC transmembrane type-1 1. 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) AAGTCCAGCCCCATGGATGAT 0.393000 26 58 0 0 0.099896 0 0 FGF17 8822 broad.mit.edu 37 8 21900473 21900473 + Splice_Site SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr8:21900473C>G ENST00000359441.3 + 1 537 c.35_splice c.e1+1 p.L12_splice FGF17_ENST00000518533.1_Splice_Site_p.L12_splice NM_003867.2 NP_003858.1 O60258 FGF17_HUMAN fibroblast growth factor 17 12 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development extracellular space growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 8 Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618) CAACCTCACTCTGTAAGTGTG 0.657000 11 16 0 0 0.093190 0 0 GPBP1 65056 broad.mit.edu 37 5 56531816 56531816 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:56531816G>A ENST00000424459.3 + 6 1709 c.435G>A c.(433-435)gaG>gaA p.E145E GPBP1_ENST00000454432.2_Silent_p.E145E|GPBP1_ENST00000264779.6_Silent_p.E152E|GPBP1_ENST00000511209.1_Silent_p.E152E|GPBP1_ENST00000514387.2_5'UTR|GPBP1_ENST00000538707.1_Silent_p.E152E|GPBP1_ENST00000506184.2_Silent_p.E145E NM_022913.3 NP_075064.1 Q86WP2 GPBP1_HUMAN GC-rich promoter binding protein 1 145 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 19 Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222) OV - Ovarian serous cystadenocarcinoma(10;7.64e-39) CTGAGTATGAGAGAGAACCAA 0.318000 9 136 0 0 0.069234 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378495 31378495 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:31378495G>C ENST00000297142.3 - 2 710 c.388C>G c.(388-390)Ctg>Gtg p.L130V NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 130 Helix-loop-helix motif. cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 ATTTTGGACAGTTTCTGGGTT 0.483000 41 77 0 0 0.086207 0 0 ETFA 2108 broad.mit.edu 37 15 76584999 76584999 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr15:76584999G>T ENST00000557943.1 - 3 309 c.229C>A c.(229-231)Ctg>Atg p.L77M ETFA_ENST00000560726.1_Intron|ETFA_ENST00000433983.2_Missense_Mutation_p.L28M|ETFA_ENST00000559602.1_Intron NM_000126.3 NP_000117.1 P13804 ETFA_HUMAN electron-transfer-flavoprotein, alpha polypeptide 77 respiratory electron transport chain|transport mitochondrial matrix electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 TGAGCCACCAGAACTTTTGCT 0.358000 33 176 1.60099e-16 1.744e-16 0.074837 1 0 NEIL2 252969 broad.mit.edu 37 8 11643525 11643525 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr8:11643525C>G ENST00000284503.6 + 5 1341 c.742C>G c.(742-744)Ctc>Gtc p.L248V NEIL2_ENST00000436750.3_Missense_Mutation_p.L248V|NEIL2_ENST00000403422.3_Missense_Mutation_p.L187V|NEIL2_ENST00000455213.2_Missense_Mutation_p.L248V|NEIL2_ENST00000528323.1_Missense_Mutation_p.L132V NM_145043.2 NP_659480.1 Q969S2 NEIL2_HUMAN nei endonuclease VIII-like 2 (E. coli) 248 base-excision repair|nucleotide-excision repair nucleus damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 all_epithelial(15;0.103) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.166) TCCCCTTTCTCTCGGTTCAGT 0.552000 Base excision repair (BER), DNA glycosylases 9 456 0 0 0.058154 0 0 C9orf131 138724 broad.mit.edu 37 9 35044713 35044713 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:35044713C>T ENST00000312292.5 + 2 2134 c.2087C>T c.(2086-2088)cCa>cTa p.P696L C9orf131_ENST00000421362.2_Missense_Mutation_p.P648L|C9orf131_ENST00000354479.5_Missense_Mutation_p.P623L NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 696 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) ACTCCTCTACCAGAGCCACAC 0.552000 14 84 0 0 0.119110 0 0 IGHV3-11 28450 broad.mit.edu 37 14 106573666 106573666 + RNA SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:106573666C>G ENST00000390601.2 - 0 134 AAACCCAGCTCAGCCCAAACT 0.483000 12 319 0 0 0.119110 0 0 CPA6 57094 broad.mit.edu 37 8 68419035 68419035 + Nonsense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr8:68419035C>T ENST00000297770.4 - 6 838 c.623G>A c.(622-624)tGg>tAg p.W208* CPA6_ENST00000297769.4_Nonsense_Mutation_p.W60*|CPA6_ENST00000518549.1_Nonsense_Mutation_p.W208* NM_020361.4 NP_065094.3 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 208 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) TTTTACAAACCACTGACAAAA 0.403000 51 69 0 0 0.139131 0 0 AHNAK 79026 broad.mit.edu 37 11 62286923 62286923 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:62286923G>C ENST00000378024.4 - 5 15240 c.14966C>G c.(14965-14967)gCt>gGt p.A4989G AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4989 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) CTTGATGTCAGCTTTGGGGCT 0.453000 12 203 0 0 0.080935 0 0 HCN4 10021 broad.mit.edu 37 15 73659999 73659999 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr15:73659999C>T ENST00000261917.3 - 1 1606 c.613G>A c.(613-615)Gag>Aag p.E205K NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 205 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) AGGCGCACCTCGGCCTCCGGG 0.682000 7 61 0 0 0.038147 0 0 GALNT2 2590 broad.mit.edu 37 1 230338990 230338990 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:230338990G>A ENST00000366672.4 + 3 400 c.328G>A c.(328-330)Gat>Aat p.D110N GALNT2_ENST00000543760.1_Missense_Mutation_p.D72N|GALNT2_ENST00000541865.1_Missense_Mutation_p.D20N NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) 110 immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) GGTGGAGAGTGATAAGCTTCG 0.547000 32 152 0 0 0.144211 0 0 ARHGAP6 395 broad.mit.edu 37 X 11187736 11187736 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:11187736C>G ENST00000337414.4 - 9 2570 c.1698G>C c.(1696-1698)caG>caC p.Q566H ARHGAP6_ENST00000534860.1_Missense_Mutation_p.Q391H|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.Q375H|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.Q363H|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.Q566H|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.Q363H|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.Q598H NM_013427.2 NP_038286.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 566 Rho-GAP. 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 CTGATGACTTCTGCTTGTGCA 0.438000 29 214 0 0 0.125774 0 0 FNDC1 84624 broad.mit.edu 37 6 159659662 159659662 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:159659662G>A ENST00000297267.9 + 13 4345 c.4145G>A c.(4144-4146)cGg>cAg p.R1382Q FNDC1_ENST00000340366.6_Missense_Mutation_p.R1319Q NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1382 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) AATCCTCTTCGGATTAAACTA 0.388000 8 20 0 0 0.058154 0 0 LSAMP 4045 broad.mit.edu 37 3 115561400 115561400 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:115561400C>G ENST00000490035.1 - 5 1174 c.675G>C c.(673-675)aaG>aaC p.K225N LSAMP_ENST00000539563.1_Missense_Mutation_p.K222N|LSAMP_ENST00000498645.1_5'UTR NM_002338.3 NP_002329.2 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 225 Ig-like C2-type 3. 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) CTTCATTGCTCTTGGATTCTG 0.498000 19 122 0 0 0.055883 0 0 NAPRT1 93100 broad.mit.edu 37 8 144659478 144659478 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr8:144659478C>T ENST00000449291.2 - 4 823 c.529G>A c.(529-531)Gat>Aat p.D177N NAPRT1_ENST00000435154.3_Missense_Mutation_p.D177N|NAPRT1_ENST00000426292.3_Missense_Mutation_p.D177N|NAPRT1_ENST00000276844.7_Missense_Mutation_p.D177N|RP11-661A12.9_ENST00000531730.1_RNA Q6XQN6 PNCB_HUMAN nicotinate phosphoribosyltransferase domain containing 1 177 nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process cytosol|Golgi apparatus|nucleus nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146) AGGCCCCCATCGGGGCCCTGA 0.692000 16 4 0 0 0.146539 0 0 SPAG7 9552 broad.mit.edu 37 17 4862900 4862900 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:4862900C>T ENST00000573366.1 - 7 1318 c.460G>A c.(460-462)Gag>Aag p.E154K SPAG7_ENST00000575142.1_3'UTR|SPAG7_ENST00000206020.3_Missense_Mutation_p.E205K O75391 SPAG7_HUMAN sperm associated antigen 7 205 nucleus nucleic acid binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1) 10 TTCATAGCCTCTTCAATGGAG 0.617000 79 129 0 0 0.139131 0 0 ARID1A 8289 broad.mit.edu 37 1 27106087 27106087 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:27106087G>C ENST00000324856.7 + 20 6069 c.5698G>C c.(5698-5700)Gat>Cat p.D1900H ARID1A_ENST00000374152.2_Missense_Mutation_p.D1517H|ARID1A_ENST00000540690.1_Missense_Mutation_p.D228H|ARID1A_ENST00000457599.2_Missense_Mutation_p.D1683H NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1900 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.D1900N(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCCCCCACCTGATGGACCTCC 0.587000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 6 88 0 0 0.029380 0 0 TPTE 7179 broad.mit.edu 37 21 10959802 10959802 + Splice_Site SNP T T C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr21:10959802T>C ENST00000298232.7 - 7 487 c.e7-2 TPTE_ENST00000415664.2_Splice_Site|TPTE_ENST00000342420.5_Intron|TPTE_ENST00000361285.4_Splice_Site NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GCTAACACACTTTAGCCACCA 0.318000 23 91 0 0 0.091800 0 0 ERI3 79033 broad.mit.edu 37 1 44820585 44820585 + Silent SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:44820585C>G ENST00000372257.2 - 1 295 c.114G>C c.(112-114)ccG>ccC p.P38P ERI3_ENST00000495828.1_5'UTR NM_024066.1 NP_076971.1 O43414 ERI3_HUMAN ERI1 exoribonuclease family member 3 38 intracellular exonuclease activity|metal ion binding|nucleic acid binding endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GCCCCCAACTCGGGCCCATCC 0.697000 4 42 0 0 0.009096 0 0 SPAG7 9552 broad.mit.edu 37 17 4862903 4862903 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:4862903C>T ENST00000573366.1 - 7 1315 c.457G>A c.(457-459)Gaa>Aaa p.E153K SPAG7_ENST00000575142.1_3'UTR|SPAG7_ENST00000206020.3_Missense_Mutation_p.E204K O75391 SPAG7_HUMAN sperm associated antigen 7 204 nucleus nucleic acid binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1) 10 ATAGCCTCTTCAATGGAGCGT 0.617000 75 129 0 0 0.139131 0 0 SPZ1 84654 broad.mit.edu 37 5 79616896 79616896 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:79616896G>A ENST00000296739.4 + 1 1107 c.862G>A c.(862-864)Ggt>Agt p.G288S NM_032567.3 NP_115956.3 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 288 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2) 26 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) TAATGGAGTCGGTTTCCAAAC 0.413000 51 70 0 0 0.139131 0 0 ZNF142 7701 broad.mit.edu 37 2 219510915 219510915 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:219510915C>T ENST00000411696.2 - 6 2209 c.1430G>A c.(1429-1431)cGa>cAa p.R477Q ZNF142_ENST00000449707.1_Missense_Mutation_p.R477Q P52746 ZN142_HUMAN zinc finger protein 142 477 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TGCATGTTTTCGCATGTGCAC 0.512000 21 93 0 0 0.049695 0 0 NPTN 27020 broad.mit.edu 37 15 73862516 73862516 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr15:73862516C>T ENST00000351217.6 - 5 1659 c.741G>A c.(739-741)agG>agA p.R247R NPTN_ENST00000562924.1_Silent_p.R247R|NPTN_ENST00000345330.4_Silent_p.R363R|NPTN_ENST00000563691.1_Silent_p.R363R|NPTN_ENST00000542234.1_Silent_p.R158R|NPTN_ENST00000545878.1_Silent_p.R363R NM_001161364.1|NM_017455.3 NP_001154836.1|NP_059429.1 Q9Y639 NPTN_HUMAN neuroplastin 363 Ig-like 3. elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation integral to membrane|plasma membrane|presynaptic membrane cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 13 CTGGCCTCTTCCTCTTCTCAT 0.512000 42 285 0 0 0.117977 0 0 EPHA2 1969 broad.mit.edu 37 1 16458218 16458218 + Missense_Mutation SNP C C T rs2291806 TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:16458218C>T ENST00000358432.5 - 14 2627 c.2473G>A c.(2473-2475)Gag>Aag p.E825K NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 825 Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding p.E825*(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) GCACCCACCTCGTGGTTGGAC 0.587000 11 87 0 0 0.093190 0 0 TOP2B 7155 broad.mit.edu 37 3 25670595 25670595 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:25670595G>A ENST00000435706.2 - 14 1917 c.1716C>T c.(1714-1716)ttC>ttT p.F572F TOP2B_ENST00000264331.4_Silent_p.F577F Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa 577 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 TGTGATGGATGAAATTAATAA 0.274000 43 49 0 0 0.139131 0 0 CHD3 1107 broad.mit.edu 37 17 7812049 7812049 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:7812049G>T ENST00000380358.4 + 36 5474 c.5473G>T c.(5473-5475)Gat>Tat p.D1825Y CHD3_ENST00000330494.7_Missense_Mutation_p.D1766Y|CHD3_ENST00000358181.4_Missense_Mutation_p.D1732Y NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1766 Required for interaction with PCNT. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CATCCAGAATGATGCTCAATT 0.443000 26 218 4.72057e-08 4.9459e-08 0.091800 1 0 PRR14 78994 broad.mit.edu 37 16 30666894 30666894 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr16:30666894G>A ENST00000542965.2 + 9 1842 c.1386G>A c.(1384-1386)atG>atA p.M462I PRR14_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Missense_Mutation_p.M462I Q9BWN1 PRR14_HUMAN proline rich 14 462 breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 18 Colorectal(24;0.103) TTACACCAATGGGACTGCCTC 0.522000 7 39 0 0 0.038147 0 0 FRY 10129 broad.mit.edu 37 13 32818298 32818298 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr13:32818298G>C ENST00000380250.3 + 47 7303 c.6807G>C c.(6805-6807)aaG>aaC p.K2269N NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2269 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) AAGTTCTGAAGACAATTGAAA 0.438000 23 115 0 0 0.076483 0 0 CUL1 8454 broad.mit.edu 37 7 148485666 148485666 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:148485666G>C ENST00000325222.4 + 14 1776 c.1497G>C c.(1495-1497)gaG>gaC p.E499D CUL1_ENST00000602748.1_Missense_Mutation_p.E499D|CUL1_ENST00000409469.1_Missense_Mutation_p.E499D NM_003592.2 NP_003583.2 Q13616 CUL1_HUMAN cullin 1 499 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) GCGGGTTCGAGTACACCTCTA 0.398000 60 120 0 0 0.139131 0 0 IGHV3OR16-9 28307 broad.mit.edu 37 16 32077580 32077580 + RNA SNP A A G rs28541432 by1000genomes TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr16:32077580A>G ENST00000354689.6 + 0 195 RP11-1166P10.6_ENST00000566806.1_RNA ACTCTGTGAAAGGCCGATTCA 0.517000 7 435 0 0 0.047766 0 0 UNC79 57578 broad.mit.edu 37 14 94103615 94103615 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:94103615G>C ENST00000553484.1 + 34 6107 c.5953G>C c.(5953-5955)Gac>Cac p.D1985H UNC79_ENST00000256339.4_Missense_Mutation_p.D1786H|UNC79_ENST00000555664.1_Missense_Mutation_p.D1924H|UNC79_ENST00000393151.2_Missense_Mutation_p.D1963H Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1963 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 cctaaaccctgacctggaggg 0.488000 15 56 0 0 0.043863 0 0 SLC3A2 6520 broad.mit.edu 37 11 62656097 62656097 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:62656097C>G ENST00000377892.1 + 13 2142 c.1918C>G c.(1918-1920)Ctt>Gtt p.L640V SLC3A2_ENST00000377891.2_Missense_Mutation_p.L610V|SLC3A2_ENST00000338663.7_Missense_Mutation_p.L508V|SLC3A2_ENST00000377890.2_Missense_Mutation_p.L609V|SLC3A2_ENST00000377889.2_Missense_Mutation_p.L547V|SLC3A2_ENST00000535296.1_Missense_Mutation_p.L578V|SLC3A2_ENST00000536981.1_Missense_Mutation_p.L154V P08195 4F2_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 2 609 blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2) 22 GGGCTCCCCTCTTGAGCTGGA 0.667000 63 119 0 0 0.139131 0 0 MSLNL 401827 broad.mit.edu 37 16 823207 823207 + Silent SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr16:823207G>T ENST00000293892.3 - 10 2060 c.2061C>A c.(2059-2061)ctC>ctA p.L687L MSLNL_ENST00000442466.1_Silent_p.L336L Q96KJ4 MSLNL_HUMAN mesothelin-like 336 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 GGTTGGTTCTGAGGATGCAGC 0.627000 11 137 1.61879e-10 1.72907e-10 0.093190 1 0 TRIM14 9830 broad.mit.edu 37 9 100862396 100862396 + Silent SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:100862396G>C ENST00000341469.2 - 3 363 c.354C>G c.(352-354)ctC>ctG p.L118L TRIM14_ENST00000342043.3_Silent_p.L118L|TRIM14_ENST00000375098.3_Silent_p.L118L NM_014788.2 NP_055603.2 Q14142 TRI14_HUMAN tripartite motif containing 14 118 cytoplasm|intracellular zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(62;0.0559) GTAGTAATCTGAGTTCAGTGA 0.443000 48 238 0 0 0.139131 0 0 FBN1 2200 broad.mit.edu 37 15 48796097 48796097 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr15:48796097C>G ENST00000316623.5 - 17 2455 c.2000G>C c.(1999-2001)aGa>aCa p.R667T NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 667 TB 3. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) ACACTGGCCTCTCTTGTATCC 0.488000 13 112 0 0 0.105934 0 0 MUC17 140453 broad.mit.edu 37 7 100678729 100678729 + Silent SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:100678729C>G ENST00000306151.4 + 3 4096 c.4032C>G c.(4030-4032)gtC>gtG p.V1344V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1344 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GTATACCTGTCAACACCACAC 0.458000 134 293 0 0 0.139131 0 0 MDN1 23195 broad.mit.edu 37 6 90494802 90494802 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:90494802G>C ENST00000369393.3 - 9 1493 c.1378C>G c.(1378-1380)Cat>Gat p.H460D MDN1_ENST00000428876.1_Missense_Mutation_p.H460D Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 460 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AAAGTAGCATGACTGTTTAGC 0.378000 6 344 0 0 0.029380 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30689980 30689980 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr22:30689980G>A ENST00000215790.7 - 7 989 c.825C>T c.(823-825)ttC>ttT p.F275F TBC1D10A_ENST00000403477.3_Silent_p.F282F|RP1-130H16.18_ENST00000447976.1_Silent_p.F149F|TBC1D10A_ENST00000403362.1_Silent_p.F187F NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 275 Rab-GAP TBC. intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 AGGCGCACATGAACCATTCTG 0.592000 22 152 0 0 0.062417 0 0 UBXN11 91544 broad.mit.edu 37 1 26620764 26620764 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:26620764G>A ENST00000374222.1 - 9 955 c.491C>T c.(490-492)tCa>tTa p.S164L UBXN11_ENST00000374217.2_Missense_Mutation_p.S131L|UBXN11_ENST00000535108.1_Missense_Mutation_p.S6L|UBXN11_ENST00000374221.3_Missense_Mutation_p.S164L|UBXN11_ENST00000436301.2_Missense_Mutation_p.S89L|UBXN11_ENST00000357089.4_Missense_Mutation_p.S131L|UBXN11_ENST00000314675.7_Intron|UBXN11_ENST00000374223.1_Intron Q5T124 UBX11_HUMAN UBX domain protein 11 164 cytoplasm|cytoskeleton endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 CTTGCTCTCTGAGTCCTCCTG 0.617000 55 96 0 0 0.139131 0 0 CIDEA 1149 broad.mit.edu 37 18 12264384 12264384 + Nonsense_Mutation SNP G G T rs139948292 TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr18:12264384G>T ENST00000320477.9 + 3 327 c.262G>T c.(262-264)Gag>Tag p.E88* CIDEA_ENST00000521296.1_3'UTR NM_001279.3 NP_001270.1 O60543 CIDEA_HUMAN cell death-inducing DFFA-like effector a 88 CIDE-N. DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis mitochondrial envelope|nucleus protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2) 13 GGACACAGAAGAGTTCTTTCA 0.512000 33 64 1.61788e-16 1.75804e-16 0.050027 1 0 BMP15 9210 broad.mit.edu 37 X 50659551 50659551 + Missense_Mutation SNP A A T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:50659551A>T ENST00000252677.3 + 2 1123 c.1123A>T c.(1123-1125)Agt>Tgt p.S375C NM_005448.2 NP_005439.2 O95972 BMP15_HUMAN bone morphogenetic protein 15 375 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1) 26 Ovarian(276;0.236) GGCAAATGGGAGTATTTTGTA 0.468000 60 210 0 0 0.139131 0 0 UGCG 7357 broad.mit.edu 37 9 114695273 114695273 + Missense_Mutation SNP T T A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:114695273T>A ENST00000374279.3 + 9 1631 c.1181T>A c.(1180-1182)gTa>gAa p.V394E NM_003358.1 NP_003349.1 Q16739 CEGT_HUMAN UDP-glucose ceramide glucosyltransferase 394 epidermis development|glucosylceramide biosynthetic process Golgi membrane|integral to membrane|membrane fraction ceramide glucosyltransferase activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(323;0.0433) Miglustat(DB00419) ATCCTAGATGTATAACTACAG 0.333000 33 94 0 0 0.050027 0 0 CILP2 148113 broad.mit.edu 37 19 19656361 19656361 + Silent SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:19656361C>A ENST00000586018.1 + 8 3127 c.3025C>A c.(3025-3027)Cgg>Agg p.R1009R CILP2_ENST00000291495.4_Silent_p.R1003R Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 1003 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 GTTCGACCAGCGGCAGGTGGA 0.682000 16 15 5.35267e-07 5.58152e-07 0.043863 1 0 PHF20 51230 broad.mit.edu 37 20 34526853 34526853 + Silent SNP C C T rs17347322 byFrequency TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr20:34526853C>T ENST00000374012.3 + 16 2664 c.2535C>T c.(2533-2535)cgC>cgT p.R845R PHF20_ENST00000439301.1_3'UTR Q9BVI0 PHF20_HUMAN PHD finger protein 20 845 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(12;0.00631)|all_lung(11;0.0145) AGAAGCCCCGCGCCTATTACC 0.632000 4 73 0 0 0.021553 0 0 ANKS6 203286 broad.mit.edu 37 9 101540657 101540657 + Missense_Mutation SNP T T C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:101540657T>C ENST00000353234.4 - 7 1465 c.1418A>G c.(1417-1419)cAg>cGg p.Q473R ANKS6_ENST00000375019.2_Missense_Mutation_p.Q172R|ANKS6_ENST00000540940.1_Missense_Mutation_p.Q278R|ANKS6_ENST00000375018.1_Missense_Mutation_p.Q473R Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain containing 6 473 endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 21 Acute lymphoblastic leukemia(62;0.0527) GGGCAGCGTCTGCATCAGTTT 0.587000 31 38 0 0 0.050027 0 0 GPR113 165082 broad.mit.edu 37 2 26534512 26534512 + Missense_Mutation SNP C C T rs148160413 byFrequency TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:26534512C>T ENST00000333478.6 - 8 2069 c.1487G>A c.(1486-1488)cGg>cAg p.R496Q GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Missense_Mutation_p.R626Q|GPR113_ENST00000311519.1_Missense_Mutation_p.R695Q|GPR113_ENST00000541401.1_Missense_Mutation_p.R298Q NM_153835.3 NP_722577.2 Q8IZF5 GP113_HUMAN G protein-coupled receptor 113 695 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTGAAGGCCCGGTCACCTGC 0.577000 13 27 0 0 0.105934 0 0 CCDC43 124808 broad.mit.edu 37 17 42757999 42757999 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:42757999C>G ENST00000315286.8 - 4 449 c.441G>C c.(439-441)gaG>gaC p.E147D CCDC43_ENST00000457422.2_Intron|C17orf104_ENST00000588805.1_Intron|CCDC43_ENST00000588210.1_Missense_Mutation_p.E150D NM_144609.2 NP_653210.2 Q96MW1 CCD43_HUMAN coiled-coil domain containing 43 147 lung(2) 2 Prostate(33;0.0322) AATCATCCTTCTCATCTGCTT 0.408000 26 165 0 0 0.125774 0 0 P2RX1 5023 broad.mit.edu 37 17 3803019 3803019 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:3803019C>T ENST00000225538.3 - 8 1058 c.784G>A c.(784-786)Gac>Aac p.D262N NM_002558.2 NP_002549.1 P51575 P2RX1_HUMAN purinergic receptor P2X, ligand-gated ion channel, 1 262 platelet activation integral to plasma membrane calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 13 LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173) CAGTCCAGGTCACAGTGCCAG 0.542000 7 109 0 0 0.029380 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217279529 217279529 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:217279529G>C ENST00000357276.4 + 3 432 c.102G>C c.(100-102)caG>caC p.Q34H SMARCAL1_ENST00000358207.5_Missense_Mutation_p.Q34H NM_014140.3 NP_054859.2 Q9NZC9 SMAL1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 34 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) AACAGCATCAGAGGACTAGCT 0.522000 Schimke Immuno-Osseous Dysplasia 53 105 0 0 0.139131 0 0 USP42 84132 broad.mit.edu 37 7 6193669 6193669 + Silent SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:6193669G>C ENST00000306177.5 + 15 2642 c.2484G>C c.(2482-2484)gcG>gcC p.A828A NM_032172.2 NP_115548.1 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 828 Pro-rich. cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 35 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) CAGGCGATGCGAGCCCGTTGT 0.716000 9 66 0 0 0.058154 0 0 UBN2 254048 broad.mit.edu 37 7 138969091 138969091 + Nonsense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:138969091C>G ENST00000288561.8 + 15 3440 c.3191C>G c.(3190-3192)tCa>tGa p.S1064* UBN2_ENST00000473989.2_Nonsense_Mutation_p.S1147* NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 1147 Ser-rich. NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 CAGGCCCCCTCAAAGCTAACA 0.473000 3 93 0 0 0.009096 0 0 SYT11 23208 broad.mit.edu 37 1 155838359 155838359 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:155838359G>A ENST00000368324.4 + 2 891 c.638G>A c.(637-639)aGa>aAa p.R213K SYT11_ENST00000539162.1_Intron NM_152280.4 NP_689493.3 Q9BT88 SYT11_HUMAN synaptotagmin XI 213 C2 1. cell junction|synaptic vesicle membrane protein binding|transporter activity p.R213T(1) breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) GTGAAGACCAGAGTGCTGCGG 0.572000 5 144 0 0 0.014758 0 0 PLVAP 83483 broad.mit.edu 37 19 17476503 17476503 + Silent SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:17476503G>C ENST00000252590.4 - 3 832 c.771C>G c.(769-771)ctC>ctG p.L257L NM_031310.1 NP_112600.1 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 257 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GGGGATGGTAGAGGTTGTAAC 0.607000 5 130 0 0 0.021553 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27834627 27834627 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:27834627C>T ENST00000331442.3 - 1 732 c.681G>A c.(679-681)taG>taA p.*227* NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 0 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 CGCCAGCTTCCTACTTCTTTT 0.517000 15 23 0 0 0.132662 0 0 EED 8726 broad.mit.edu 37 11 85979511 85979511 + Nonsense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:85979511C>T ENST00000263360.6 + 9 1560 c.874C>T c.(874-876)Cag>Tag p.Q292* EED_ENST00000351625.6_Nonsense_Mutation_p.Q292*|EED_ENST00000327320.4_Nonsense_Mutation_p.Q292*|EED_ENST00000528180.1_Intron NM_003797.3 NP_003788.2 O75530 EED_HUMAN embryonic ectoderm development 292 Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|identical protein binding haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 21 Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092) ATTTATTTCTCAGAAAATCCA 0.299000 71 71 0 0 0.139131 0 0 CCDC73 493860 broad.mit.edu 37 11 32675537 32675537 + Missense_Mutation SNP T T G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:32675537T>G ENST00000335185.5 - 11 864 c.821A>C c.(820-822)cAa>cCa p.Q274P CCDC73_ENST00000534415.1_5'UTR NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 274 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) TTTTTCTTCTTGAATATGGGT 0.259000 12 25 0 0 0.132662 0 0 BBX 56987 broad.mit.edu 37 3 107492081 107492081 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:107492081G>C ENST00000415149.2 + 11 1840 c.1513G>C c.(1513-1515)Gat>Cat p.D505H BBX_ENST00000416476.2_Intron|BBX_ENST00000402543.1_Missense_Mutation_p.D505H|BBX_ENST00000325805.8_Missense_Mutation_p.D505H|BBX_ENST00000406780.1_Missense_Mutation_p.D505H NM_001142568.1|NM_020235.5 NP_001136040.1|NP_064620.2 Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 505 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) GAAACTTGGAGATACCCCTCG 0.458000 110 69 0 0 0.139131 0 0 ESPL1 9700 broad.mit.edu 37 12 53687204 53687204 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:53687204G>C ENST00000257934.4 + 31 6400 c.6309G>C c.(6307-6309)aaG>aaC p.K2103N ESPL1_ENST00000552462.1_Missense_Mutation_p.K2103N NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 2103 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 CCCGACTCAAGTATCTTATTG 0.557000 21 89 0 0 0.069288 0 0 TP53BP1 7158 broad.mit.edu 37 15 43749026 43749026 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr15:43749026C>G ENST00000263801.3 - 12 2017 c.1765G>C c.(1765-1767)Gat>Cat p.D589H TP53BP1_ENST00000382044.4_Missense_Mutation_p.D594H|TP53BP1_ENST00000450115.2_Missense_Mutation_p.D594H|TP53BP1_ENST00000382039.3_Missense_Mutation_p.D594H NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 589 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) TCTGTATCATCTCCCTTTGTT 0.403000 Other conserved DNA damage response genes 70 156 0 0 0.139131 0 0 SNRNP35 11066 broad.mit.edu 37 12 123950297 123950297 + Silent SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:123950297C>G ENST00000526639.2 + 2 789 c.210C>G c.(208-210)gtC>gtG p.V70V SNRNP35_ENST00000350887.5_Silent_p.V70V|SNRNP35_ENST00000412157.2_Silent_p.V75V|SNRNP35_ENST00000527158.2_Intron NM_022717.2 NP_073208.1 Q16560 U1SBP_HUMAN small nuclear ribonucleoprotein 35kDa (U11/U12) 70 RRM. mRNA processing U12-type spliceosomal complex nucleotide binding|RNA binding NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 8 TAAAGGAAGTCTTTTCCCGCT 0.517000 27 46 0 0 0.125774 0 0 TLN1 7094 broad.mit.edu 37 9 35720452 35720452 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:35720452C>G ENST00000314888.9 - 12 1614 c.1261G>C c.(1261-1263)Gag>Cag p.E421Q TLN1_ENST00000540444.1_Missense_Mutation_p.E421Q NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 421 Interaction with LAYN (By similarity). axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) ACTGAGTCCTCCAGCATAGTA 0.488000 44 461 0 0 0.139131 0 0 LHX6 26468 broad.mit.edu 37 9 124979413 124979413 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:124979413C>G ENST00000394319.4 - 5 720 c.616G>C c.(616-618)Gag>Cag p.E206Q LHX6_ENST00000373754.2_Missense_Mutation_p.E177Q|LHX6_ENST00000373755.2_Missense_Mutation_p.E177Q|LHX6_ENST00000541397.2_Missense_Mutation_p.E195Q|LHX6_ENST00000340587.3_Missense_Mutation_p.E206Q|LHX6_ENST00000559895.1_5'UTR NM_014368.4 NP_055183.2 Q9UPM6 LHX6_HUMAN LIM homeobox 6 177 cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(5) 8 AGCACCTTCTCCTCGACCAGG 0.647000 19 108 0 0 0.038395 0 0 CBL 867 broad.mit.edu 37 11 119103214 119103214 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:119103214C>T ENST00000264033.4 + 2 628 c.252C>T c.(250-252)atC>atT p.I84I NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 84 4H.|Cbl-PTB. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) CACCTTATATCTTAGACCTGC 0.428000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 7 67 0 0 0.029380 0 0 FAM120C 54954 broad.mit.edu 37 X 54112314 54112314 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:54112314C>T ENST00000375180.2 - 13 2729 c.2673G>A c.(2671-2673)caG>caA p.Q891Q FAM120C_ENST00000328235.4_Intron NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 891 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 CAAGGATGCTCTGTCTCATCT 0.478000 54 74 0 0 0.139131 0 0 PRRC2A 7916 broad.mit.edu 37 6 31597336 31597336 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:31597336G>A ENST00000376033.2 + 14 2202 c.1968G>A c.(1966-1968)ctG>ctA p.L656L PRRC2A_ENST00000376007.4_Silent_p.L656L NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 656 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 AGCAGCTCCTGAagcagcagc 0.557000 145 239 0 0 0.139131 0 0 MARCH10 162333 broad.mit.edu 37 17 60814396 60814396 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:60814396G>C ENST00000544856.2 - 7 1208 c.830C>G c.(829-831)tCc>tGc p.S277C RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.S278C|MARCH10_ENST00000311269.5_Missense_Mutation_p.S278C|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.S316C Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 278 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 TGACAAAATGGAATAAAAGTC 0.488000 101 376 0 0 0.139131 0 0 DRC1 92749 broad.mit.edu 37 2 26679336 26679336 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:26679336C>G ENST00000288710.2 + 17 2248 c.2174C>G c.(2173-2175)tCt>tGt p.S725C NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) CAGATCAACTCTGAACTGCAA 0.557000 10 68 0 0 0.080935 0 0 EDEM2 55741 broad.mit.edu 37 20 33730263 33730263 + Nonsense_Mutation SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr20:33730263C>A ENST00000540582.1 - 8 875 c.154G>T c.(154-156)Gaa>Taa p.E52* EDEM2_ENST00000374492.3_Nonsense_Mutation_p.E93*|EDEM2_ENST00000542871.1_5'UTR|EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000374491.2_Nonsense_Mutation_p.E56* Q9BV94 EDEM2_HUMAN ER degradation enhancer, mannosidase alpha-like 2 93 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 22 BRCA - Breast invasive adenocarcinoma(18;0.00936) CTTTGGAATTCTGAGACATTC 0.448000 14 65 2.32078e-09 2.4491e-09 0.132662 1 0 SEC24C 9632 broad.mit.edu 37 10 75529650 75529650 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr10:75529650G>T ENST00000339365.2 + 21 2901 c.2739G>T c.(2737-2739)aaG>aaT p.K913N SEC24C_ENST00000540668.1_Missense_Mutation_p.K161N|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000535742.1_Missense_Mutation_p.K161N|SEC24C_ENST00000411652.2_Missense_Mutation_p.K794N|SEC24C_ENST00000345254.4_Missense_Mutation_p.K913N NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 913 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) GTGTGTTGAAGAGTGATGTCC 0.463000 46 266 1.56793e-16 1.71224e-16 0.139131 1 0 ZFP36L1 677 broad.mit.edu 37 14 69256568 69256568 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:69256568G>A ENST00000439696.2 - 2 1000 c.699C>T c.(697-699)agC>agT p.S233S ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Silent_p.S233S NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 233 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) GGTCATCGGCGCTCAGAATAG 0.627000 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 269 0 0 0.116897 0 0 SPTB 6710 broad.mit.edu 37 14 65233386 65233386 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:65233386G>C ENST00000542895.1 - 32 6499 c.6403C>G c.(6403-6405)Cac>Gac p.H2135D SPTB_ENST00000556626.1_Intron|SPTB_ENST00000389721.5_Missense_Mutation_p.H2135D|SPTB_ENST00000389722.3_Intron P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 2135 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TAGTAGGGGTGAGAGGGCTCT 0.652000 41 233 0 0 0.080422 0 0 ERBB2 2064 broad.mit.edu 37 17 37880180 37880180 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:37880180G>C ENST00000406381.2 + 21 2644 c.2134G>C c.(2134-2136)Gat>Cat p.D712H ERBB2_ENST00000584601.1_Missense_Mutation_p.D712H|ERBB2_ENST00000269571.5_Missense_Mutation_p.D742H|ERBB2_ENST00000584450.1_Missense_Mutation_p.D742H|ERBB2_ENST00000541774.1_Missense_Mutation_p.D727H|ERBB2_ENST00000540147.1_Missense_Mutation_p.D712H|ERBB2_ENST00000445658.2_Missense_Mutation_p.D466H NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 742 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CTGGATCCCTGATGGGGAGAA 0.502000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 4 67 0 0 0.021553 0 0 SERPINB3 6317 broad.mit.edu 37 18 61328411 61328411 + Missense_Mutation SNP C C G rs148776258 byFrequency TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr18:61328411C>G ENST00000283752.5 - 2 183 c.40G>C c.(40-42)Gac>Cac p.D14H SERPINB3_ENST00000332821.8_Missense_Mutation_p.D14H|SERPINB11_ENST00000489748.1_RNA NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 14 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 TGGAACAGGTCGAACATGAAC 0.428000 87 226 0 0 0.139131 0 0 GABRR2 2570 broad.mit.edu 37 6 89974233 89974233 + Silent SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:89974233G>C ENST00000402938.3 - 8 1117 c.984C>G c.(982-984)ctC>ctG p.L328L GABRR2_ENST00000602399.1_Silent_p.L353L P28476 GBRR2_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 2 353 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1) 21 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) AGCTGACCCAGAGGTAGATGT 0.592000 22 95 0 0 0.062417 0 0 COL6A3 1293 broad.mit.edu 37 2 238255176 238255176 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:238255176C>T ENST00000295550.4 - 32 7514 c.7062G>A c.(7060-7062)caG>caA p.Q2354Q COL6A3_ENST00000347401.3_Silent_p.Q2153Q|COL6A3_ENST00000346358.4_Silent_p.Q2154Q|COL6A3_ENST00000472056.1_Silent_p.Q1747Q|COL6A3_ENST00000409809.1_Silent_p.Q2148Q|COL6A3_ENST00000353578.4_Silent_p.Q2148Q NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2354 Collagen-like 5.|Triple-helical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GGTCTCCCTTCTGTCCAACTA 0.507000 39 34 0 0 0.104719 0 0 PLG 5340 broad.mit.edu 37 6 161134091 161134091 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:161134091G>A ENST00000308192.9 + 5 544 c.481G>A c.(481-483)Ggg>Agg p.G161R PLG_ENST00000462918.1_3'UTR NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 161 Kringle 1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CGATCCGCAGGGGCCCTGGTG 0.478000 74 154 0 0 0.139131 0 0 ALOX15 246 broad.mit.edu 37 17 4542786 4542786 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:4542786G>A ENST00000570836.1 - 3 372 c.276C>T c.(274-276)gtC>gtT p.V92V ALOX15_ENST00000574640.1_Silent_p.V53V|ALOX15_ENST00000293761.3_Silent_p.V92V|ALOX15_ENST00000545513.1_Silent_p.V114V P16050 LOX15_HUMAN arachidonate 15-lipoxygenase 92 PLAT. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) AAGGGAACCTGACCTCGTCCC 0.647000 19 85 0 0 0.049695 0 0 FOXJ2 55810 broad.mit.edu 37 12 8196363 8196363 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:8196363G>A ENST00000162391.3 + 4 1620 c.475G>A c.(475-477)Gat>Aat p.D159N FOXJ2_ENST00000428177.2_Missense_Mutation_p.D159N NM_018416.2 NP_060886.1 Q9P0K8 FOXJ2_HUMAN forkhead box J2 159 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) TCCAGATGATGATGTAAGTTC 0.493000 19 268 0 0 0.049695 0 0 NLGN1 22871 broad.mit.edu 37 3 173322762 173322762 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:173322762G>C ENST00000457714.1 + 3 803 c.374G>C c.(373-375)aGa>aCa p.R125T NLGN1_ENST00000361589.4_Missense_Mutation_p.R125T|NLGN1_ENST00000545397.1_Missense_Mutation_p.R125T|NLGN1_ENST00000401917.3_Missense_Mutation_p.R125T NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 125 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) ATTGATGGCAGATTGCCAGAA 0.433000 26 542 0 0 0.116897 0 0 RBMXL1 494115 broad.mit.edu 37 1 89448482 89448482 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:89448482C>G ENST00000399794.2 - 3 1743 c.1028G>C c.(1027-1029)aGa>aCa p.R343T RBMXL1_ENST00000321792.5_Missense_Mutation_p.R343T|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron NM_001162536.2 NP_001156008.1 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 343 Ser-rich. nucleotide binding|RNA binding TCTTTCTTGTCTGCCAACCCT 0.512000 75 245 0 0 0.139131 0 0 OR51T1 401665 broad.mit.edu 37 11 4904108 4904108 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:4904108G>A ENST00000380378.1 + 1 1060 c.1060G>A c.(1060-1062)Gat>Aat p.D354N MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.D327N|MMP26_ENST00000380390.1_Intron NM_001004759.1 NP_001004759.1 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, member 1 327 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GGGAAGATGGGATTGAAGGTA 0.468000 13 84 0 0 0.105934 0 0 CCDC64 92558 broad.mit.edu 37 12 120530923 120530923 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:120530923C>T ENST00000397558.2 + 9 1680 c.1680C>T c.(1678-1680)atC>atT p.I560I CCDC64_ENST00000546857.1_3'UTR|CCDC64_ENST00000446727.2_Silent_p.I231I|CCDC64_ENST00000257583.4_Silent_p.I257I NM_207311.2 NP_997194.2 Q6ZP65 BICR1_HUMAN coiled-coil domain containing 64 560 Golgi to secretory granule transport|neuron projection development centrosome dynactin binding|Rab GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGCCCAGCATCGCTGAAGGCA 0.602000 5 35 0 0 0.014758 0 0 BDKRB1 623 broad.mit.edu 37 14 96730571 96730571 + Silent SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:96730571G>C ENST00000216629.6 + 3 1158 c.552G>C c.(550-552)ctG>ctC p.L184L BDKRB1_ENST00000553356.1_Silent_p.L184L|RP11-404P21.3_ENST00000553638.1_RNA NM_000710.3 NP_000701.2 P46663 BKRB1_HUMAN bradykinin receptor B1 184 elevation of cytosolic calcium ion concentration endoplasmic reticulum|integral to plasma membrane bradykinin receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1) 16 all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226) TCCCAGATCTGAACATCACCG 0.592000 32 175 0 0 0.050027 0 0 PCNX 22990 broad.mit.edu 37 14 71485846 71485846 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:71485846C>T ENST00000304743.2 + 12 3563 c.3117C>T c.(3115-3117)ctC>ctT p.L1039L PCNX_ENST00000439984.3_Silent_p.L928L|PCNX_ENST00000238570.5_Silent_p.L1039L NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 1039 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) AGTTCTGCCTCGTCATAGCCA 0.423000 48 323 0 0 0.139131 0 0 AGBL5 60509 broad.mit.edu 37 2 27278716 27278716 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:27278716G>A ENST00000360131.4 + 7 1234 c.1075G>A c.(1075-1077)Gat>Aat p.D359N AGBL5_ENST00000323064.8_Missense_Mutation_p.D359N NM_021831.5 NP_068603.4 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 359 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTCCCTCCTGATGCTCCTGT 0.527000 25 118 0 0 0.099896 0 0 PHYHD1 254295 broad.mit.edu 37 9 131704017 131704017 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:131704017C>T ENST00000308941.5 + 12 1299 c.879C>T c.(877-879)ctC>ctT p.L293L PHYHD1_ENST00000353176.5_3'UTR|PHYHD1_ENST00000372592.3_3'UTR|PHYHD1_ENST00000421063.2_3'UTR|RP11-101E3.5_ENST00000482796.1_Intron NM_174933.3 NP_777593.2 phytanoyl-CoA dioxygenase domain containing 1 central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3) 10 CAGGAGCCCTCGCCCCTCCCG 0.592000 27 107 0 0 0.134883 0 0 NOC2L 26155 broad.mit.edu 37 1 892498 892498 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:892498G>A ENST00000327044.6 - 3 384 c.335C>T c.(334-336)tCc>tTc p.S112F NOC2L_ENST00000487214.1_5'UTR NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog (S. cerevisiae) 112 nucleolus protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 16 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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) ATCTGGCAGGGAGTGGAACGG 0.582000 66 389 0 0 0.139131 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502348 140502348 + Silent SNP A A G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:140502348A>G ENST00000194152.1 + 1 768 c.768A>G c.(766-768)ctA>ctG p.L256L NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 256 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAGCCCCCTAGACTCTCCAA 0.448000 57 161 0 0 0.139131 0 0 SDHA 6389 broad.mit.edu 37 5 226112 226112 + Missense_Mutation SNP T T C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:226112T>C ENST00000264932.6 + 5 686 c.571T>C c.(571-573)Tgt>Cgt p.C191R SDHA_ENST00000510361.1_Missense_Mutation_p.C143R|SDHA_ENST00000504309.1_Missense_Mutation_p.C191R NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 191 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) TCGGTGCTGCTGTGTGGCTGA 0.562000 Familial Paragangliomas 23 171 0 0 0.108266 0 0 ANGPTL2 23452 broad.mit.edu 37 9 129856193 129856193 + Missense_Mutation SNP T T A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:129856193T>A ENST00000373425.3 - 3 1447 c.830A>T c.(829-831)gAc>gTc p.D277V RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron|ANGPTL2_ENST00000373417.1_5'UTR|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000394022.3_Intron NM_012098.2 NP_036230.1 Q9UKU9 ANGL2_HUMAN angiopoietin-like 2 277 Fibrinogen C-terminal. multicellular organismal development|signal transduction extracellular space receptor binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1) 18 CTGCAGGCAGTCTCTCCATGG 0.617000 38 103 0 0 0.092188 0 0 TLR4 7099 broad.mit.edu 37 9 120476116 120476116 + Silent SNP T T C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:120476116T>C ENST00000355622.6 + 3 1811 c.1710T>C c.(1708-1710)agT>agC p.S570S TLR4_ENST00000394487.4_Silent_p.S530S|TLR4_ENST00000472304.1_3'UTR NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 570 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 TTCCAAGTAGTCTAGCTTTCT 0.413000 73 60 0 0 0.139131 0 0 FOSL2 2355 broad.mit.edu 37 2 28634820 28634820 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:28634820G>C ENST00000264716.4 + 4 1349 c.486G>C c.(484-486)gaG>gaC p.E162D FOSL2_ENST00000545753.1_Missense_Mutation_p.E123D|FOSL2_ENST00000379619.1_Missense_Mutation_p.E154D NM_005253.3 NP_005244.1 P15408 FOSL2_HUMAN FOS-like antigen 2 162 Leucine-zipper. cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155) TGGAGGAGGAGAAGTCAGGCC 0.557000 4 91 0 0 0.009096 0 0 GRM5 2915 broad.mit.edu 37 11 88300894 88300894 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:88300894G>C ENST00000418177.2 - 8 2324 c.1957C>G c.(1957-1959)Ctc>Gtc p.L653V GRM5_ENST00000305432.5_Missense_Mutation_p.L653V|GRM5_ENST00000305447.4_Missense_Mutation_p.L653V|GRM5_ENST00000393297.1_Missense_Mutation_p.L653V|GRM5_ENST00000455756.2_Missense_Mutation_p.L653V P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 653 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) GCTGGGGAGAGACCAATGCCA 0.493000 16 12 0 0 0.132662 0 0 LILRB5 10990 broad.mit.edu 37 19 54758747 54758747 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:54758747G>A ENST00000450632.1 - 6 1156 c.1079C>T c.(1078-1080)tCa>tTa p.S360L LILRB5_ENST00000345866.6_Missense_Mutation_p.S269L|LILRB5_ENST00000316219.5_Missense_Mutation_p.S369L|LILRB5_ENST00000449561.2_Missense_Mutation_p.S369L O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 369 Ig-like C2-type 4. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTGGTACTTTGACTTTAGACA 0.527000 7 84 0 0 0.029380 0 0 PCM1 5108 broad.mit.edu 37 8 17817912 17817912 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr8:17817912G>C ENST00000325083.8 + 15 2720 c.2281G>C c.(2281-2283)Gag>Cag p.E761Q PCM1_ENST00000519253.1_Missense_Mutation_p.E761Q|PCM1_ENST00000524226.1_Missense_Mutation_p.E762Q NM_006197.3 NP_006188.3 Q15154 PCM1_HUMAN pericentriolar material 1 761 centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) TGACATTCAGGAGAAAATTCA 0.333000 T """RET, JAK2""" """papillary thyroid, CML, MPD""" 27 63 0 0 0.099896 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140868963 140868963 + Silent SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:140868963G>C ENST00000252087.1 + 1 156 c.156G>C c.(154-156)ctG>ctC p.L52L PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000398587.2_Intron NM_018929.2|NM_032403.2|NM_032407.1 NP_061752.1|NP_115779.1|NP_115783.1 Q9Y5F6 PCDGM_HUMAN 52 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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) CTCAGGATCTGGGCTTAAAGA 0.582000 13 98 0 0 0.033300 0 0 ZBTB20 26137 broad.mit.edu 37 3 114070078 114070078 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:114070078C>T ENST00000462705.1 - 11 1449 c.628G>A c.(628-630)Gaa>Aaa p.E210K ZBTB20_ENST00000357258.3_Missense_Mutation_p.E210K|ZBTB20_ENST00000393785.2_Missense_Mutation_p.E210K|ZBTB20_ENST00000474710.1_Missense_Mutation_p.E283K|ZBTB20_ENST00000481632.1_Missense_Mutation_p.E210K|ZBTB20_ENST00000471418.1_Missense_Mutation_p.E210K|ZBTB20_ENST00000464560.1_Missense_Mutation_p.E210K NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 283 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) CTGGGGTCTTCCATGTGGTGG 0.662000 6 208 0 0 0.021553 0 0 CCP110 9738 broad.mit.edu 37 16 19543747 19543747 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr16:19543747G>C ENST00000396212.2 + 4 587 c.151G>C c.(151-153)Gag>Cag p.E51Q CCP110_ENST00000396208.2_Missense_Mutation_p.E51Q|CCP110_ENST00000381396.5_Missense_Mutation_p.E51Q NM_014711.4 NP_055526.3 O43303 CP110_HUMAN centriolar coiled coil protein 110kDa 51 CEP97 binding. centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 GCTTAACATTGAGAAAAGAAA 0.343000 16 66 0 0 0.132662 0 0 CLUH 23277 broad.mit.edu 37 17 2600219 2600219 + Missense_Mutation SNP T T A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:2600219T>A ENST00000570628.1 - 11 1970 c.1865A>T c.(1864-1866)aAg>aTg p.K622M CLUH_ENST00000538975.1_Missense_Mutation_p.K622M|CLUH_ENST00000435359.1_Missense_Mutation_p.K622M|CLUH_ENST00000575014.1_Missense_Mutation_p.K554M clustered mitochondria (cluA/CLU1) homolog GGCGGCCAGCTTCATAAAGAG 0.627000 6 8 0 0 0.021553 0 0 PLG 5340 broad.mit.edu 37 6 161134092 161134092 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:161134092G>A ENST00000308192.9 + 5 545 c.482G>A c.(481-483)gGg>gAg p.G161E PLG_ENST00000462918.1_3'UTR NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 161 Kringle 1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GATCCGCAGGGGCCCTGGTGC 0.483000 74 155 0 0 0.139131 0 0 TOX4 9878 broad.mit.edu 37 14 21963395 21963395 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:21963395C>G ENST00000405508.1 + 9 1925 c.1649C>G c.(1648-1650)tCt>tGt p.S550C TOX4_ENST00000448790.2_Missense_Mutation_p.S527C|TOX4_ENST00000262709.3_Missense_Mutation_p.S550C O94842 TOX4_HUMAN TOX high mobility group box family member 4 550 chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) CAGGTTGAGTCTCCTTCTCAG 0.483000 63 168 0 0 0.139131 0 0 HERC1 8925 broad.mit.edu 37 15 63966767 63966767 + Missense_Mutation SNP T T A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr15:63966767T>A ENST00000443617.2 - 38 7707 c.7620A>T c.(7618-7620)gaA>gaT p.E2540D NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 2540 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 TGTGGCCATTTTCAGCCAGAA 0.483000 9 18 0 0 0.058154 0 0 SLC9A7 84679 broad.mit.edu 37 X 46466624 46466624 + Silent SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:46466624C>A ENST00000328306.4 - 17 1966 c.1941G>T c.(1939-1941)ctG>ctT p.L647L SLC9A7_ENST00000464933.1_5'UTR NM_001257291.1|NM_032591.2 NP_001244220.1|NP_115980.1 Q96T83 SL9A7_HUMAN solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 647 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 21 CTTCCTCTCTCAGTGGCTCTT 0.498000 9 78 0.00829132 0.00846486 0.069234 1 0 CCDC30 728621 broad.mit.edu 37 1 43021987 43021987 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:43021987G>T ENST00000428554.2 + 12 1729 c.586G>T c.(586-588)Gtg>Ttg p.V196L CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000390640.4_Intron|CCDC30_ENST00000342022.4_Missense_Mutation_p.V196L|CCDC30_ENST00000340612.4_Missense_Mutation_p.V196L Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 196 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 TGAGGAAATTGTGAGGCTTAG 0.463000 15 37 1.49906e-05 1.54844e-05 0.119110 1 0 PTCH2 8643 broad.mit.edu 37 1 45296710 45296710 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:45296710C>T ENST00000447098.2 - 6 634 c.623G>A c.(622-624)cGc>cAc p.R208H PTCH2_ENST00000372192.3_Missense_Mutation_p.R208H NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 208 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) GATATCCGGGCGGCCGCTGAG 0.612000 Basal Cell Nevus syndrome 19 28 0 0 0.038395 0 0 TRAV8-6 28680 broad.mit.edu 37 14 22447304 22447304 + RNA SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:22447304G>C ENST00000390443.3 + 0 505 CCTTCCACTTGAGGAAACCCT 0.478000 26 93 0 0 0.099896 0 0 HIBADH 11112 broad.mit.edu 37 7 27689115 27689115 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:27689115C>T ENST00000265395.2 - 2 435 c.229G>A c.(229-231)Gag>Aag p.E77K NM_152740.3 NP_689953.1 P31937 3HIDH_HUMAN 3-hydroxyisobutyrate dehydrogenase 77 branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process mitochondrial matrix 3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1) 12 GBM - Glioblastoma multiforme(3;0.0368) NADH(DB00157) TCTTGAAACTCTTTGCAGGCA 0.353000 26 49 0 0 0.116897 0 0 SPAG7 9552 broad.mit.edu 37 17 4863614 4863614 + Splice_Site SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:4863614C>A ENST00000573366.1 - 4 948 c.e4-1 SPAG7_ENST00000575142.1_Splice_Site|SPAG7_ENST00000206020.3_Splice_Site O75391 SPAG7_HUMAN sperm associated antigen 7 nucleus nucleic acid binding|protein binding p.?(1) central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1) 10 CACATCATGTCTGGGATGGGA 0.567000 31 46 2.52449e-32 2.8344e-32 0.092188 1 0 SELL 6402 broad.mit.edu 37 1 169672451 169672451 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:169672451C>T ENST00000236147.4 - 6 1096 c.936G>A c.(934-936)aaG>aaA p.K312K SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron NM_000655.4 NP_000646.2 P14151 LYAM1_HUMAN selectin L 299 Sushi 2. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response integral to plasma membrane glycosphingolipid binding|heparin binding|protease binding|sugar binding p.K299N(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 15 all_hematologic(923;0.208) AAATGGTTTTCTTCTTCCCAA 0.423000 3 51 0 0 0.115264 0 0 ATG2B 55102 broad.mit.edu 37 14 96777489 96777489 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:96777489C>T ENST00000359933.4 - 28 5019 c.4126G>A c.(4126-4128)Gat>Aat p.D1376N ATG2B_ENST00000261834.5_5'UTR NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1376 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) GGCTTCATATCTGCCTTGTTA 0.448000 35 347 0 0 0.064281 0 0 SNTA1 6640 broad.mit.edu 37 20 32026798 32026798 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr20:32026798G>A ENST00000217381.2 - 2 616 c.345C>T c.(343-345)tcC>tcT p.S115S NM_003098.2 NP_003089.1 Q13424 SNTA1_HUMAN syntrophin, alpha 1 115 PDZ.|PH 1. muscle contraction cell junction|cytoplasm|cytoskeleton|sarcolemma actin binding|calmodulin binding breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1) 13 TGAAGATCTTGGAAATGAGAA 0.517000 15 214 0 0 0.146539 0 0 ZNF835 90485 broad.mit.edu 37 19 57175754 57175754 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:57175754G>A ENST00000537055.2 - 2 1044 c.813C>T c.(811-813)atC>atT p.I271I NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 CCTCCGTGTGGATGCGCTGGT 0.682000 6 4 0 0 0.029380 0 0 SNHG14 104472715 broad.mit.edu 37 15 25429464 25429464 + RNA SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr15:25429464G>C ENST00000424208.1 + 0 450 SNORD115-8_ENST00000363856.1_RNA NR_003305.1 GGTCAATGATGAGAACCTTAC 0.517000 8 382 0 0 0.038147 0 0 CCDC63 160762 broad.mit.edu 37 12 111336787 111336787 + Silent SNP C C T rs141258896 TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:111336787C>T ENST00000308208.5 + 10 1442 c.1200C>T c.(1198-1200)taC>taT p.Y400Y CCDC63_ENST00000552694.1_Silent_p.Y321Y|CCDC63_ENST00000545036.1_Silent_p.Y360Y NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 400 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 AGAGCAAGTACGGGGAGGTCA 0.512000 16 74 0 0 0.033300 0 0 AC008103.5 0 broad.mit.edu 37 22 18842450 18842450 + RNA SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr22:18842450G>C ENST00000412938.1 + 0 2208 GAGTGGCTCAGAGCGGGGCTC 0.627000 2 13 0 0 0.115264 0 0 MYLPF 29895 broad.mit.edu 37 16 30387201 30387201 + Missense_Mutation SNP T T C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr16:30387201T>C ENST00000322861.7 + 2 145 c.64T>C c.(64-66)Ttc>Ctc p.F22L NM_013292.3 NP_037424.2 Q96A32 MLRS_HUMAN myosin light chain, phosphorylatable, fast skeletal muscle 22 skeletal muscle tissue development muscle myosin complex calcium ion binding|structural constituent of muscle large_intestine(2)|lung(4) 6 Colorectal(24;0.193) CTTCTCCATGTTCGACCAGAC 0.592000 11 41 0 0 0.080935 0 0 MYO1F 4542 broad.mit.edu 37 19 8601428 8601428 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:8601428C>G ENST00000338257.8 - 18 2120 c.1853G>C c.(1852-1854)aGa>aCa p.R618T NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 618 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 GAAGCCGGCTCTGCGCACCCT 0.652000 39 81 0 0 0.074837 0 0 ICAM1 3383 broad.mit.edu 37 19 10395132 10395132 + Nonsense_Mutation SNP G G T rs143008699 TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:10395132G>T ENST00000264832.3 + 5 1304 c.979G>T c.(979-981)Gag>Tag p.E327* ICAM1_ENST00000423829.2_Nonsense_Mutation_p.E105*|CTD-2369P2.5_ENST00000592893.1_RNA NM_000201.2 NP_000192.2 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 327 Ig-like C2-type 4. adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity p.E327K(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) AGAAGGGACCGAGGTGACAGT 0.642000 44 91 1.41504e-22 1.57665e-22 0.124865 1 0 ACSL4 2182 broad.mit.edu 37 X 108904860 108904860 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:108904860G>T ENST00000340800.2 - 15 2224 c.1720C>A c.(1720-1722)Cta>Ata p.L574I ACSL4_ENST00000348502.6_Missense_Mutation_p.L533I|ACSL4_ENST00000469796.2_Missense_Mutation_p.L574I NM_022977.2 NP_075266.1 O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 574 fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2) 22 Icosapent(DB00159)|Troglitazone(DB00197) AACTTCACTAGATCTTTCTTA 0.358000 21 143 1.37657e-19 1.52604e-19 0.062417 1 0 CHST5 23563 broad.mit.edu 37 16 75563522 75563522 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr16:75563522C>G ENST00000336257.3 - 3 2155 c.761G>C c.(760-762)tGg>tCg p.W254S CHST5_ENST00000541075.1_Missense_Mutation_p.W260S|RP11-77K12.7_ENST00000460606.1_3'UTR NM_024533.4 NP_078809.2 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 254 N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24 GGCCTCCACCCACTTGCCGTT 0.731000 31 68 0 0 0.050027 0 0 PTPRK 5796 broad.mit.edu 37 6 128643138 128643138 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:128643138G>C ENST00000525459.1 - 3 769 c.541C>G c.(541-543)Ctc>Gtc p.L181V PTPRK_ENST00000368227.3_Intron|PTPRK_ENST00000368226.4_Intron|PTPRK_ENST00000532331.1_Intron|PTPRK_ENST00000368210.3_Intron|PTPRK_ENST00000524481.1_Intron|PTPRK_ENST00000368215.3_Intron|PTPRK_ENST00000368207.3_Intron|PTPRK_ENST00000368213.5_Intron Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 0 MAM. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) CATATAGTGAGAACTGATGAC 0.428000 8 47 0 0 0.038147 0 0 KIAA1429 25962 broad.mit.edu 37 8 95507153 95507153 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr8:95507153C>T ENST00000297591.5 - 20 4651 c.4576G>A c.(4576-4578)Gat>Aat p.D1526N KIAA1429_ENST00000437199.1_3'UTR NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1526 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TTCAACTGATCATCCATGACA 0.318000 32 359 0 0 0.074837 0 0 DLGAP5 9787 broad.mit.edu 37 14 55643828 55643828 + Missense_Mutation SNP T T C rs139172891 TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:55643828T>C ENST00000247191.2 - 8 1217 c.1001A>G c.(1000-1002)aAt>aGt p.N334S DLGAP5_ENST00000395425.2_Missense_Mutation_p.N334S NM_014750.4 NP_055565.3 Q15398 DLGP5_HUMAN discs, large (Drosophila) homolog-associated protein 5 334 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 44 CAAAAAAGCATTGGCACTTCT 0.378000 30 64 0 0 0.050027 0 0 BBX 56987 broad.mit.edu 37 3 107492069 107492069 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:107492069G>C ENST00000415149.2 + 11 1828 c.1501G>C c.(1501-1503)Gag>Cag p.E501Q BBX_ENST00000416476.2_Intron|BBX_ENST00000402543.1_Missense_Mutation_p.E501Q|BBX_ENST00000325805.8_Missense_Mutation_p.E501Q|BBX_ENST00000406780.1_Missense_Mutation_p.E501Q NM_001142568.1|NM_020235.5 NP_001136040.1|NP_064620.2 Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 501 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.E501Q(1) breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) CTGGGGCATAGAGAAACTTGG 0.473000 115 72 0 0 0.139131 0 0 C18orf21 83608 broad.mit.edu 37 18 33554876 33554876 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr18:33554876G>C ENST00000592875.1 + 3 764 c.118G>C c.(118-120)Gaa>Caa p.E40Q C18orf21_ENST00000333234.5_5'UTR NM_031446.4 NP_113634.3 Q32NC0 CR021_HUMAN chromosome 18 open reading frame 21 40 endometrium(1)|kidney(1)|large_intestine(1)|skin(2) 5 GAGCACTTTTGAAGAAACGTG 0.353000 25 118 0 0 0.108266 0 0 S1PR3 1903 broad.mit.edu 37 9 91617111 91617111 + Silent SNP C C T rs138808274 TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:91617111C>T ENST00000375846.3 + 1 5691 c.996C>T c.(994-996)ctC>ctT p.L332L S1PR3_ENST00000358157.2_Silent_p.L332L Q99500 S1PR3_HUMAN sphingosine-1-phosphate receptor 3 332 anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1) 34 AGCCTGCGCTCGACCCAAGCA 0.632000 6 79 0 0 0.029380 0 0 KLRG1 10219 broad.mit.edu 37 12 9161668 9161668 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:9161668C>T ENST00000266551.4 + 4 470 c.455C>T c.(454-456)tCa>tTa p.S152L KLRG1_ENST00000356986.3_Missense_Mutation_p.S152L|KLRG1_ENST00000538029.1_3'UTR NM_005810.3 NP_005801.3 Q96E93 KLRG1_HUMAN killer cell lectin-like receptor subfamily G, member 1 152 C-type lectin. cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response integral to membrane receptor activity|sugar binding breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1) 8 CTAAACTTCTCAAGGTAAGGG 0.443000 18 24 0 0 0.038395 0 0 MYOM3 127294 broad.mit.edu 37 1 24432564 24432564 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:24432564C>G ENST00000330966.7 - 5 571 c.409G>C c.(409-411)Gag>Cag p.E137Q MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Missense_Mutation_p.E136Q|MYOM3_ENST00000329601.7_Missense_Mutation_p.E136Q Q5VTT5 MYOM3_HUMAN myomesin 3 136 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) ACCTTCTCCTCTGTCTGGAGG 0.617000 7 36 0 0 0.038147 0 0 CACNB3 784 broad.mit.edu 37 12 49219528 49219528 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:49219528C>T ENST00000301050.2 + 9 917 c.718C>T c.(718-720)Cgc>Tgc p.R240C CACNB3_ENST00000547230.1_Missense_Mutation_p.R199C|CACNB3_ENST00000536187.2_Missense_Mutation_p.R239C|CACNB3_ENST00000540990.1_Missense_Mutation_p.R227C|CACNB3_ENST00000547392.1_Missense_Mutation_p.R213C NM_000725.3 NP_000716.2 P54284 CACB3_HUMAN calcium channel, voltage-dependent, beta 3 subunit 240 axon guidance|membrane depolarization|synaptic transmission cytosol|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1) 12 Verapamil(DB00661) CATCATTGAGCGCTCCTCTGC 0.572000 20 77 0 0 0.062417 0 0 NAB2 4665 broad.mit.edu 37 12 57485044 57485044 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:57485044G>C ENST00000300131.3 + 2 598 c.220G>C c.(220-222)Gag>Cag p.E74Q NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.E74Q|NAB2_ENST00000342556.6_Missense_Mutation_p.E74Q NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 74 NCD1. cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 GCAGCTGTGTGAGGCGGGTGA 0.632000 25 219 0 0 0.125774 0 0 LDLR 3949 broad.mit.edu 37 19 11231182 11231182 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:11231182G>A ENST00000558518.1 + 14 2311 c.2124G>A c.(2122-2124)atG>atA p.M708I LDLR_ENST00000455727.2_Missense_Mutation_p.M540I|LDLR_ENST00000557933.1_Missense_Mutation_p.M708I|LDLR_ENST00000545707.1_Intron|LDLR_ENST00000535915.1_Missense_Mutation_p.M667I|LDLR_ENST00000558013.1_Missense_Mutation_p.M708I NM_000527.4|NM_001195798.1 NP_000518.1|NP_001182727.1 P01130 LDLR_HUMAN low density lipoprotein receptor 708 EGF-like 3. cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.?(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) CCAGGGACATGAGGAGCTGCC 0.627000 12 67 0 0 0.105934 0 0 LRSAM1 90678 broad.mit.edu 37 9 130253536 130253536 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:130253536G>C ENST00000323301.4 + 19 2069 c.1465G>C c.(1465-1467)Gag>Cag p.E489Q LRSAM1_ENST00000373322.1_Missense_Mutation_p.E489Q|LRSAM1_ENST00000373324.4_Intron|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000300417.6_Missense_Mutation_p.E489Q NM_138361.5 NP_612370.3 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif containing 1 489 negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2) 16 GACACAGCTGGAGTTAAAGAG 0.483000 11 95 0 0 0.069234 0 0 KMT2D 8085 broad.mit.edu 37 12 49443980 49443980 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:49443980G>C ENST00000301067.7 - 11 3390 c.3391C>G c.(3391-3393)Ccg>Gcg p.P1131A NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TGTGAACCCGGAGCATCAATC 0.637000 22 30 0 0 0.076483 0 0 SDAD1 55153 broad.mit.edu 37 4 76886972 76886972 + Missense_Mutation SNP A A G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr4:76886972A>G ENST00000356260.5 - 13 1167 c.1049T>C c.(1048-1050)gTa>gCa p.V350A SDAD1_ENST00000513089.1_5'UTR|SDAD1_ENST00000395711.4_Missense_Mutation_p.V313A NM_018115.2 NP_060585.2 Q9NVU7 SDA1_HUMAN SDA1 domain containing 1 350 protein transport|ribosomal large subunit biogenesis nucleolus protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GATCTTGGTTACTTCTGAAAA 0.473000 37 108 0 0 0.069456 0 0 ELMOD3 84173 broad.mit.edu 37 2 85598302 85598302 + Nonsense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:85598302G>T ENST00000315658.7 + 7 713 c.454G>T c.(454-456)Gaa>Taa p.E152* ELMOD3_ENST00000428955.2_Nonsense_Mutation_p.E152*|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409890.2_Nonsense_Mutation_p.E152*|ELMOD3_ENST00000409344.3_Nonsense_Mutation_p.E152*|ELMOD3_ENST00000409013.3_Nonsense_Mutation_p.E152*|ELMOD3_ENST00000393852.4_Nonsense_Mutation_p.E152* NM_032213.4 NP_115589.2 Q96FG2 ELMD3_HUMAN ELMO/CED-12 domain containing 3 152 phagocytosis cytoskeleton endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 12 CCTTCGGGAAGAAAGGGACTT 0.587000 11 128 0.000978159 0.00100565 0.080935 1 0 LINGO1 84894 broad.mit.edu 37 15 77906720 77906720 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr15:77906720G>A ENST00000355300.6 - 2 1703 c.1529C>T c.(1528-1530)gCc>gTc p.A510V LINGO1_ENST00000561030.1_Missense_Mutation_p.A504V NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 510 Ig-like C2-type. negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 ATGCAGGTGGGCGGGCATGGA 0.657000 21 71 0 0 0.055883 0 0 NUDT19 390916 broad.mit.edu 37 19 33183421 33183421 + Silent SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:33183421C>G ENST00000397061.3 + 1 555 c.555C>G c.(553-555)ctC>ctG p.L185L NM_001105570.1 NP_001099040.1 A8MXV4 NUD19_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 19 185 Nudix hydrolase. mitochondrion|peroxisome hydrolase activity|metal ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 Esophageal squamous(110;0.137) GCGCCCACCTCGACTGCACAC 0.721000 5 8 0 0 0.014758 0 0 INTS10 55174 broad.mit.edu 37 8 19709251 19709251 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr8:19709251C>G ENST00000397977.3 + 17 2466 c.2068C>G c.(2068-2070)Ctg>Gtg p.L690V NM_018142.2 NP_060612.2 Q9NVR2 INT10_HUMAN integrator complex subunit 10 690 snRNA processing integrator complex protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 20 Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215) TGGAGAGAATCTGATGGTGGT 0.557000 18 120 0 0 0.038395 0 0 C15orf39 56905 broad.mit.edu 37 15 75500848 75500848 + Missense_Mutation SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr15:75500848C>A ENST00000360639.2 + 2 2779 c.2459C>A c.(2458-2460)tCt>tAt p.S820Y C15orf39_ENST00000394987.4_Missense_Mutation_p.S820Y|C15orf39_ENST00000567617.1_Missense_Mutation_p.S820Y Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 820 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 AAGCTGCTGTCTCAGCTGCAG 0.677000 3 21 0.115264 0.116057 0.115264 1 0 INTS2 57508 broad.mit.edu 37 17 59968949 59968949 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:59968949C>T ENST00000444766.3 - 14 1899 c.1824G>A c.(1822-1824)tcG>tcA p.S608S INTS2_ENST00000251334.6_Silent_p.S600S NM_020748.2 NP_065799.1 Q9H0H0 INT2_HUMAN integrator complex subunit 2 608 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding p.S608S(1) NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 GATTAGATTTCGACGCAGGAG 0.373000 66 114 0 0 0.139131 0 0 PFKFB1 5207 broad.mit.edu 37 X 54971904 54971904 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:54971904C>G ENST00000375006.3 - 10 1136 c.1066G>C c.(1066-1068)Gat>Cat p.D356H PFKFB1_ENST00000374992.2_Missense_Mutation_p.D156H|PFKFB1_ENST00000545676.1_Missense_Mutation_p.D291H NM_002625.2 NP_002616.2 P16118 F261_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 356 Fructose-2,6-bisphosphatase. energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1) 24 CGATATTTATCTTGGTCTCGC 0.478000 5 70 0 0 0.038147 0 0 STON2 85439 broad.mit.edu 37 14 81743896 81743896 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:81743896C>T ENST00000555447.1 - 6 2171 c.1759G>A c.(1759-1761)Gac>Aac p.D587N STON2_ENST00000267540.2_Missense_Mutation_p.D587N NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 587 MHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) ATCTGGTTGTCTCCTTTGCTC 0.507000 14 152 0 0 0.105934 0 0 TECTA 7007 broad.mit.edu 37 11 120998984 120998984 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:120998984G>A ENST00000392793.1 + 9 2569 c.2298G>A c.(2296-2298)ctG>ctA p.L766L TECTA_ENST00000264037.2_Silent_p.L766L O75443 TECTA_HUMAN tectorin alpha 766 VWFD 2. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CTGCTTGGCTGCGGGGACTTC 0.587000 21 63 0 0 0.055883 0 0 HABP4 22927 broad.mit.edu 37 9 99227683 99227683 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:99227683C>T ENST00000375249.4 + 3 652 c.577C>T c.(577-579)Cgc>Tgc p.R193C HABP4_ENST00000375251.3_Intron NM_014282.2 NP_055097.2 Q5JVS0 HABP4_HUMAN hyaluronan binding protein 4 193 platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|extracellular region|nucleus protein binding NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214) AGGGGGTATGCGCGGCAGAGG 0.483000 6 290 0 0 0.021553 0 0 CD163L1 283316 broad.mit.edu 37 12 7556331 7556331 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:7556331G>A ENST00000313599.3 - 6 1265 c.1208C>T c.(1207-1209)gCc>gTc p.A403V CD163L1_ENST00000396630.1_Missense_Mutation_p.A403V|CD163L1_ENST00000416109.2_Missense_Mutation_p.A413V Q9NR16 C163B_HUMAN CD163 molecule-like 1 403 SRCR 4. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 AACCACAAGGGCTTGTTCATT 0.443000 86 137 0 0 0.139131 0 0 PRR14 78994 broad.mit.edu 37 16 30666893 30666893 + Missense_Mutation SNP T T A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr16:30666893T>A ENST00000542965.2 + 9 1841 c.1385T>A c.(1384-1386)aTg>aAg p.M462K PRR14_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Missense_Mutation_p.M462K Q9BWN1 PRR14_HUMAN proline rich 14 462 breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 18 Colorectal(24;0.103) CTTACACCAATGGGACTGCCT 0.517000 7 39 0 0 0.038147 0 0 LRRC10 376132 broad.mit.edu 37 12 70004349 70004349 + Silent SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:70004349C>A ENST00000361484.3 - 1 593 c.270G>T c.(268-270)ctG>ctT p.L90L NM_201550.2 NP_963844.2 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 90 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) CCACCTGGGGCAGAGCCTTGA 0.562000 23 56 3.62473e-10 3.84362e-10 0.062417 1 0 MAGEB1 4112 broad.mit.edu 37 X 30269381 30269381 + Nonsense_Mutation SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:30269381C>A ENST00000378981.3 + 4 1092 c.771C>A c.(769-771)taC>taA p.Y257* MAGEB1_ENST00000397550.1_Nonsense_Mutation_p.Y257*|MAGEB1_ENST00000397548.2_Nonsense_Mutation_p.Y257* NM_002363.4 NP_002354.2 P43366 MAGB1_HUMAN melanoma antigen family B, 1 257 MAGE. p.Y257Y(1) NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 32 ATCTGAAGTACGAGCAGGTGC 0.493000 35 85 2.42023e-17 2.6562e-17 0.059317 1 0 RGS12 6002 broad.mit.edu 37 4 3441262 3441262 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr4:3441262C>T ENST00000344733.5 + 18 5099 c.4195C>T c.(4195-4197)Cgg>Tgg p.R1399W RGS12_ENST00000338806.4_Missense_Mutation_p.R751W NM_198229.2 NP_937872.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 1399 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GGCGCCCGGGCGGGATGGTGG 0.647000 21 32 0 0 0.062417 0 0 DNAH9 1770 broad.mit.edu 37 17 11835359 11835359 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:11835359C>T ENST00000262442.3 + 64 12202 c.12134C>T c.(12133-12135)aCg>aTg p.T4045M DNAH9_ENST00000454412.2_Missense_Mutation_p.T3969M|DNAH9_ENST00000396001.2_Missense_Mutation_p.T357M NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 4045 AAA 6 (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) TCTCGGGAGACGGAGTTTAAG 0.498000 10 475 0 0 0.093190 0 0 USE1 55850 broad.mit.edu 37 19 17330509 17330509 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:17330509G>A ENST00000445667.2 + 8 727 c.667G>A c.(667-669)Gag>Aag p.E223K USE1_ENST00000596136.1_3'UTR|USE1_ENST00000263897.5_Missense_Mutation_p.E223K|USE1_ENST00000379776.4_3'UTR Q9NZ43 USE1_HUMAN unconventional SNARE in the ER 1 homolog (S. cerevisiae) 223 lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane protein binding breast(2)|endometrium(1)|lung(3) 6 AGAGCGTCTGGAGCAGCACAC 0.522000 32 74 0 0 0.064281 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50656807 50656807 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr22:50656807G>A ENST00000248846.5 - 23 5083 c.4979C>T c.(4978-4980)tCt>tTt p.S1660F TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1660 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) GAACTGCACAGAGCCGGCCAT 0.657000 14 59 0 0 0.033300 0 0 NDRG3 57446 broad.mit.edu 37 20 35299789 35299789 + Silent SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr20:35299789C>G ENST00000373803.2 - 9 599 c.543G>C c.(541-543)ctG>ctC p.L181L NDRG3_ENST00000349004.1_Silent_p.L181L|NDRG3_ENST00000373773.3_Silent_p.L86L|NDRG3_ENST00000359675.2_Silent_p.L169L|NDRG3_ENST00000540765.1_Silent_p.L77L Q9UGV2 NDRG3_HUMAN NDRG family member 3 181 cell differentiation|negative regulation of cell growth|spermatogenesis cytoplasm endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Myeloproliferative disorder(115;0.00878) CATTGGTTGTCAGGCCAGAGA 0.378000 35 56 0 0 0.059317 0 0 KIAA1279 26128 broad.mit.edu 37 10 70748834 70748834 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr10:70748834G>C ENST00000361983.4 + 1 348 c.246G>C c.(244-246)gaG>gaC p.E82D NM_015634.3 NP_056449.1 Q96EK5 KBP_HUMAN KIAA1279 82 cell differentiation|mitochondrial transport|nervous system development mitochondrion kinesin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 14 AGGTGGTGGAGCCCGAGGGGC 0.731000 3 46 0 0 0.115264 0 0 STAM 8027 broad.mit.edu 37 10 17730107 17730107 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr10:17730107C>G ENST00000377524.3 + 5 594 c.379C>G c.(379-381)Cta>Gta p.L127V STAM_ENST00000540523.1_Missense_Mutation_p.L16V NM_003473.3 NP_003464.1 Q92783 STAM1_HUMAN signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 127 VHS. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane SH3/SH2 adaptor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 26 ACAGCTTAGTCTAATATCAGC 0.363000 11 256 0 0 0.069234 0 0 DEPDC5 9681 broad.mit.edu 37 22 32215016 32215016 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr22:32215016G>A ENST00000400246.1 + 22 1817 c.1675G>A c.(1675-1677)Gag>Aag p.E559K DEPDC5_ENST00000536766.1_Missense_Mutation_p.E531K|DEPDC5_ENST00000400248.1_Missense_Mutation_p.E559K|DEPDC5_ENST00000400249.2_Missense_Mutation_p.E559K|DEPDC5_ENST00000382111.2_Missense_Mutation_p.E559K|DEPDC5_ENST00000382112.3_Missense_Mutation_p.E559K|DEPDC5_ENST00000266091.3_Missense_Mutation_p.E559K|DEPDC5_ENST00000535622.1_Missense_Mutation_p.E559K|DEPDC5_ENST00000382105.2_Missense_Mutation_p.E559K O75140 DEPD5_HUMAN DEP domain containing 5 559 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 AGATGTCCTGGAGAACATGAT 0.498000 5 151 0 0 0.014758 0 0 DNM1P46 196968 broad.mit.edu 37 15 100340355 100340355 + RNA SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr15:100340355C>G ENST00000341853.1 - 0 571 NR_003260.1 GAAGCAGCATCTCGTCGCGCC 0.612000 4 31 0 0 0.009096 0 0 IGDCC4 57722 broad.mit.edu 37 15 65702644 65702644 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr15:65702644G>C ENST00000352385.2 - 3 644 c.435C>G c.(433-435)ttC>ttG p.F145L NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 145 Ig-like C2-type 2. integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 GGTGCAGAGAGAAGTCTGCGA 0.557000 15 113 0 0 0.132662 0 0 STAG3 10734 broad.mit.edu 37 7 99778218 99778218 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:99778218G>C ENST00000426455.1 + 2 446 c.39G>C c.(37-39)aaG>aaC p.K13N STAG3_ENST00000394018.2_Missense_Mutation_p.K13N|STAG3_ENST00000317296.5_Missense_Mutation_p.K13N Q9UJ98 STAG3_HUMAN stromal antigen 3 13 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GAGATACCAAGAGGGCCTTGT 0.522000 135 276 0 0 0.139131 0 0 BTK 695 broad.mit.edu 37 X 100615599 100615599 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:100615599C>T ENST00000308731.7 - 8 896 c.733G>A c.(733-735)Gag>Aag p.E245K BTK_ENST00000372880.1_Missense_Mutation_p.E245K NM_000061.2 NP_000052.1 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 245 SH3. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TTGCTTTCCTCCAAGATAAAA 0.478000 Agammaglobulinemia, X-linked 6 180 0 0 0.029380 0 0 PHRF1 57661 broad.mit.edu 37 11 607897 607897 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:607897C>T ENST00000264555.5 + 14 2569 c.2441C>T c.(2440-2442)tCa>tTa p.S814L PHRF1_ENST00000416188.2_Missense_Mutation_p.S813L|PHRF1_ENST00000413872.2_Missense_Mutation_p.S812L|PHRF1_ENST00000533464.1_Missense_Mutation_p.S810L NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 814 RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 GAGAACCCCTCACCCCTCTTC 0.617000 8 145 0 0 0.038147 0 0 TSR3 115939 broad.mit.edu 37 16 1400230 1400230 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr16:1400230G>C ENST00000007390.2 - 4 638 c.532C>G c.(532-534)Cca>Gca p.P178A NM_001001410.2 NP_001001410.1 TSR3, 20S rRNA accumulation, homolog (S. cerevisiae) GCAAGGTCTGGAAAGCCTGAC 0.592000 5 47 0 0 0.014758 0 0 DCHS2 54798 broad.mit.edu 37 4 155252756 155252756 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr4:155252756G>C ENST00000357232.3 - 10 2343 c.2344C>G c.(2344-2346)Ctg>Gtg p.L782V DCHS2_ENST00000339452.1_Intron NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 782 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) tcacagaaCAGAGACTTGAGA 0.483000 12 27 0 0 0.105934 0 0 ADNP 23394 broad.mit.edu 37 20 49510939 49510939 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr20:49510939C>G ENST00000396029.3 - 5 879 c.312G>C c.(310-312)agG>agC p.R104S ADNP_ENST00000371602.4_Missense_Mutation_p.R104S|ADNP_ENST00000349014.3_Missense_Mutation_p.R104S|ADNP_ENST00000396032.3_Missense_Mutation_p.R104S NM_015339.2 NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 104 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 TAAGGAGAATCCTATTTTCAA 0.408000 32 160 0 0 0.050027 0 0 DCP2 167227 broad.mit.edu 37 5 112337070 112337070 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:112337070C>G ENST00000389063.2 + 6 800 c.602C>G c.(601-603)tCt>tGt p.S201C DCP2_ENST00000543319.1_5'UTR|DCP2_ENST00000515408.1_Missense_Mutation_p.S201C NM_152624.5 NP_689837.2 Q8IU60 DCP2_HUMAN decapping mRNA 2 201 Nudix hydrolase. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding endometrium(3)|large_intestine(6)|lung(1) 10 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171) GAGTGGTTCTCTATTGAGAAA 0.333000 40 167 0 0 0.098360 0 0 GPR179 440435 broad.mit.edu 37 17 36486529 36486529 + Missense_Mutation SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:36486529C>A ENST00000342292.4 - 11 2943 c.2923G>T c.(2923-2925)Gcc>Tcc p.A975S NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 975 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) ggtgccagggcaggggctggg 0.612000 22 43 3.10358e-05 3.19829e-05 0.069288 1 0 BCHE 590 broad.mit.edu 37 3 165547864 165547864 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:165547864G>C ENST00000264381.3 - 2 1124 c.958C>G c.(958-960)Ccg>Gcg p.P320A BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 320 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) TCCACGGTCGGACCAAAGTTT 0.373000 22 171 0 0 0.055883 0 0 DEAF1 10522 broad.mit.edu 37 11 687928 687928 + Missense_Mutation SNP T T A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:687928T>A ENST00000382409.3 - 4 1131 c.647A>T c.(646-648)aAg>aTg p.K216M DEAF1_ENST00000338675.6_Missense_Mutation_p.K216M NM_021008.2 NP_066288.2 O75398 DEAF1_HUMAN DEAF1 transcription factor 216 SAND. embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|extracellular region|nucleus protein binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) GAGCCTGTTCTTGTACAGAGT 0.522000 17 84 0 0 0.049695 0 0 ZNF273 10793 broad.mit.edu 37 7 64388515 64388515 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:64388515C>T ENST00000476120.1 + 4 880 c.809C>T c.(808-810)gCc>gTc p.A270V ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.A205V NM_021148.2 NP_066971.2 Q14593 ZN273_HUMAN zinc finger protein 273 270 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(55;0.0295)|all_lung(88;0.0691) TGTGGCAAAGCCTTTAACCAG 0.328000 35 76 0 0 0.050027 0 0 SPATA5 166378 broad.mit.edu 37 4 123855341 123855341 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr4:123855341G>A ENST00000274008.3 + 5 664 c.595G>A c.(595-597)Gat>Aat p.D199N SPATA5_ENST00000422835.2_3'UTR NM_145207.2 NP_660208.2 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 199 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 GAAAGGGGCAGATGGCATGAT 0.468000 6 124 0 0 0.021553 0 0 OPN1MW2 728458 broad.mit.edu 37 X 153496185 153496185 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:153496185G>T ENST00000369929.4 + 5 973 c.913G>T c.(913-915)Gcc>Tcc p.A305S NM_001048181.2 NP_001041646.1 opsin 1 (cone pigments), medium-wave-sensitive 2 haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1) 6 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TTTGATGGCTGCCCTGCCGGC 0.552000 87 374 1.84561e-53 2.0882e-53 0.139131 1 0 PCDHA9 9752 broad.mit.edu 37 5 140230180 140230180 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:140230180G>A ENST00000378122.3 + 1 2824 c.2100G>A c.(2098-2100)ctG>ctA p.L700L PCDHA9_ENST00000532602.1_Silent_p.L700L|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_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) ACGTGTACCTGATCATCGCCA 0.662000 7 103 0 0 0.029380 0 0 GOLGB1 2804 broad.mit.edu 37 3 121395796 121395796 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:121395796C>G ENST00000393667.3 - 17 9231 c.9121G>C c.(9121-9123)Gac>Cac p.D3041H GOLGB1_ENST00000340645.5_Missense_Mutation_p.D3036H NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 3036 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TTTAAGCTGTCATTGAGCTGG 0.423000 14 217 0 0 0.119110 0 0 ETV4 2118 broad.mit.edu 37 17 41622708 41622708 + Nonsense_Mutation SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:41622708C>A ENST00000319349.5 - 3 386 c.88G>T c.(88-90)Gaa>Taa p.E30* ETV4_ENST00000591713.1_Nonsense_Mutation_p.E30*|ETV4_ENST00000538265.1_5'UTR|ETV4_ENST00000393664.2_Nonsense_Mutation_p.E30*|ETV4_ENST00000545954.1_5'UTR|RP11-392O1.4_ENST00000588996.1_RNA|ETV4_ENST00000545089.1_Nonsense_Mutation_p.E30* NM_001079675.2 NP_001073143.1 P43268 ETV4_HUMAN ets variant 4 30 positive regulation of transcription, DNA-dependent nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2) ovary(2)|upper_aerodigestive_tract(1) 3 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0798) ATCAGCGCTTCGCGCAAGCTC 0.647000 T """EWSR1, TMPRSS2, DDX5, KLK2, CANT1""" """Ewing sarcoma, Prostate carcinoma""" 7 19 0.00198382 0.00203006 0.029380 1 0 ARHGAP4 393 broad.mit.edu 37 X 153178174 153178174 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:153178174C>T ENST00000370028.3 - 13 1699 c.1642G>A c.(1642-1644)Gac>Aac p.D548N ARHGAP4_ENST00000350060.5_Missense_Mutation_p.D508N|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.D330N|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.D487N|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.D485N NM_001164741.1 NP_001158213.1 P98171 RHG04_HUMAN Rho GTPase activating protein 4 508 Rho-GAP. apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TTCTCCATGTCTCCCCCAAAG 0.557000 44 360 0 0 0.139131 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37535627 37535627 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr20:37535627G>T ENST00000299824.1 + 8 1017 c.828G>T c.(826-828)caG>caT p.Q276H PPP1R16B_ENST00000373331.2_Missense_Mutation_p.Q234H NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 276 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) TTCAGATGCAGATGGCAGAGC 0.532000 17 163 4.63292e-17 5.07195e-17 0.049695 1 0 DLGAP5 9787 broad.mit.edu 37 14 55625360 55625360 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:55625360C>G ENST00000247191.2 - 14 1969 c.1753G>C c.(1753-1755)Gag>Cag p.E585Q DLGAP5_ENST00000395425.2_Missense_Mutation_p.E585Q NM_014750.4 NP_055565.3 Q15398 DLGP5_HUMAN discs, large (Drosophila) homolog-associated protein 5 585 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 44 CTAATTCTCTCTCTCATTGCA 0.393000 40 87 0 0 0.139131 0 0 SLC32A1 140679 broad.mit.edu 37 20 37356988 37356988 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr20:37356988G>A ENST00000217420.1 + 2 1547 c.1284G>A c.(1282-1284)ctG>ctA p.L428L NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 428 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) ACGGGCGCCTGAAGTCCTGGG 0.652000 13 40 0 0 0.093190 0 0 NABP2 79035 broad.mit.edu 37 12 56620162 56620162 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:56620162C>T ENST00000380198.2 + 5 893 c.395C>T c.(394-396)tCa>tTa p.S132L NABP2_ENST00000267023.4_Missense_Mutation_p.S132L|NABP2_ENST00000341463.5_Missense_Mutation_p.S132L nucleic acid binding protein 2 AGCAACCCTTCAGCTTCCCAG 0.537000 25 143 0 0 0.045705 0 0 CCDC63 160762 broad.mit.edu 37 12 111345227 111345227 + Missense_Mutation SNP A A G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:111345227A>G ENST00000308208.5 + 12 1881 c.1639A>G c.(1639-1641)Agc>Ggc p.S547G CCDC63_ENST00000552694.1_Missense_Mutation_p.S468G|CCDC63_ENST00000545036.1_Missense_Mutation_p.S507G NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 547 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 GCGCGGAGACAGCCTGCCTGA 0.517000 7 50 0 0 0.029380 0 0 HTR1A 3350 broad.mit.edu 37 5 63256428 63256428 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:63256428G>A ENST00000323865.3 - 1 1352 c.1119C>T c.(1117-1119)agC>agT p.S373S RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 373 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) TGTGGCAGCTGCTCTCGCAGA 0.542000 94 167 0 0 0.139131 0 0 DIAPH1 1729 broad.mit.edu 37 5 140955833 140955833 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:140955833C>G ENST00000253811.6 - 14 1565 c.1425G>C c.(1423-1425)gaG>gaC p.E475D DIAPH1_ENST00000398557.4_Missense_Mutation_p.E475D|DIAPH1_ENST00000520569.1_Missense_Mutation_p.E421D|DIAPH1_ENST00000518047.1_Missense_Mutation_p.E466D|DIAPH1_ENST00000398562.2_Missense_Mutation_p.E466D|DIAPH1_ENST00000398566.3_Missense_Mutation_p.E466D|DIAPH1_ENST00000389054.3_Missense_Mutation_p.E475D|DIAPH1_ENST00000389057.5_Missense_Mutation_p.E466D O60610 DIAP1_HUMAN diaphanous-related formin 1 475 regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTCAGATTTCTCCACCTTTG 0.363000 36 145 0 0 0.092188 0 0 SNORA76C 677842 broad.mit.edu 37 17 62223821 62223821 + RNA SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:62223821G>C ENST00000408535.2 + 0 123 NR_002995.1 TTTTAACCGCGAGCGACAAGA 0.602000 34 190 0 0 0.139131 0 0 BBX 56987 broad.mit.edu 37 3 107492134 107492134 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:107492134G>C ENST00000415149.2 + 11 1893 c.1566G>C c.(1564-1566)ttG>ttC p.L522F BBX_ENST00000416476.2_Intron|BBX_ENST00000402543.1_Missense_Mutation_p.L522F|BBX_ENST00000325805.8_Missense_Mutation_p.L522F|BBX_ENST00000406780.1_Missense_Mutation_p.L522F NM_001142568.1|NM_020235.5 NP_001136040.1|NP_064620.2 Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 522 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) GAAGCATTTTGGATGCCAAGC 0.468000 34 56 0 0 0.139131 0 0 TOP1 7150 broad.mit.edu 37 20 39742733 39742733 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr20:39742733G>C ENST00000361337.2 + 15 1826 c.1576G>C c.(1576-1578)Gag>Cag p.E526Q RP1-1J6.2_ENST00000454626.1_RNA NM_003286.2 NP_003277.1 P11387 TOP1_HUMAN topoisomerase (DNA) I 526 DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) ATATGTGGTAGAGTTTGACTT 0.468000 T NUP98 AML* 10 157 0 0 0.080935 0 0 KCNF1 3754 broad.mit.edu 37 2 11053214 11053214 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:11053214C>T ENST00000295082.1 + 1 1152 c.662C>T c.(661-663)aCg>aTg p.T221M NM_002236.4 NP_002227.2 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, member 1 221 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) GAGCACCCGACGCTGGAGAAC 0.637000 16 36 0 0 0.043863 0 0 SPICE1 152185 broad.mit.edu 37 3 113187686 113187686 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:113187686G>C ENST00000295872.4 - 9 1071 c.812C>G c.(811-813)tCt>tGt p.S271C NM_144718.3 NP_653319.1 Q8N0Z3 SPICE_HUMAN spindle and centriole associated protein 1 271 cell division|mitosis centriole|spindle protein binding NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 AGTCTCAGTAGATTCTTCAGG 0.418000 25 162 0 0 0.091800 0 0 PRPF6 24148 broad.mit.edu 37 20 62648154 62648154 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr20:62648154G>C ENST00000535781.1 + 12 1714 c.1603G>C c.(1603-1605)Gag>Cag p.E535Q ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron O94906 PRP6_HUMAN pre-mRNA processing factor 6 535 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) GATTGGGATTGAGGAGGAAGA 0.542000 7 75 0 0 0.047766 0 0 TTN 7273 broad.mit.edu 37 2 179403524 179403524 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:179403524G>A ENST00000589042.1 - 354 99256 c.99032C>T c.(99031-99033)tCc>tTc p.S33011F TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S24138F|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S24071F|TTN_ENST00000342992.6_Missense_Mutation_p.S30443F|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S31370F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S23946F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31370 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) ACTATCTTTGGATATTGAAAG 0.383000 37 249 0 0 0.064281 0 0 PTPRS 5802 broad.mit.edu 37 19 5274264 5274264 + Missense_Mutation SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:5274264C>A ENST00000372412.4 - 3 416 c.183G>T c.(181-183)aaG>aaT p.K61N PTPRS_ENST00000357368.4_Missense_Mutation_p.K61N|PTPRS_ENST00000587303.1_Missense_Mutation_p.K61N|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.K61N|PTPRS_ENST00000590509.1_Missense_Mutation_p.K61N|PTPRS_ENST00000592099.1_Missense_Mutation_p.K61N|PTPRS_ENST00000262963.6_Missense_Mutation_p.K61N|PTPRS_ENST00000353284.2_Missense_Mutation_p.K61N|PTPRS_ENST00000348075.2_Missense_Mutation_p.K61N Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 61 Ig-like C2-type 1. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) TCACTCGTGGCTTGGGGTCAC 0.602000 20 52 2.4624e-09 2.59231e-09 0.049695 1 0 KALRN 8997 broad.mit.edu 37 3 124376308 124376308 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:124376308G>C ENST00000360013.3 + 40 6000 c.5873G>C c.(5872-5874)aGa>aCa p.R1958T KALRN_ENST00000428018.2_Missense_Mutation_p.R229T|KALRN_ENST00000291478.4_Missense_Mutation_p.R261T|KALRN_ENST00000393496.1_Missense_Mutation_p.R299T|KALRN_ENST00000459915.1_Missense_Mutation_p.R50T NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1957 DH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TTCATGAAGAGAATAGAAGAA 0.453000 4 129 0 0 0.009096 0 0 RECQL5 9400 broad.mit.edu 37 17 73658604 73658604 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:73658604C>T ENST00000420326.2 - 4 885 c.726G>A c.(724-726)ctG>ctA p.L242L RECQL5_ENST00000584999.1_Silent_p.L242L|RECQL5_ENST00000423245.2_Silent_p.L215L|RECQL5_ENST00000340830.5_Silent_p.L242L|RECQL5_ENST00000317905.5_Silent_p.L242L NM_001003715.3|NM_001003716.3 NP_001003715.1|NP_001003716.1 O94762 RECQ5_HUMAN RecQ protein-like 5 242 Helicase C-terminal. DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) AGAAGTCCTTCAGGTTCCCAT 0.512000 Other identified genes with known or suspected DNA repair function 223 410 0 0 0.139131 0 0 SUSD2 56241 broad.mit.edu 37 22 24580746 24580746 + Nonsense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr22:24580746C>G ENST00000358321.3 + 5 881 c.620C>G c.(619-621)tCa>tGa p.S207* NM_019601.3 NP_062547.1 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 207 immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 ATGCCCTACTCACAGGAGTGG 0.607000 11 52 0 0 0.080935 0 0 JAK2 3717 broad.mit.edu 37 9 5029862 5029862 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:5029862C>T ENST00000381652.3 + 4 800 c.306C>T c.(304-306)ttC>ttT p.F102F JAK2_ENST00000539801.1_Silent_p.F102F NM_004972.3 NP_004963.1 O60674 JAK2_HUMAN Janus kinase 2 102 FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity). actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1) 32998 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) ACCATGTCTTCCATATAGATG 0.363000 1 """T, Mis, O""" """ETV6, PCM1, BCR""" """ALL, AML, MPD, CML""" Polycythemia Vera, Familial 24 252 0 0 0.099896 0 0 ERCC8 1161 broad.mit.edu 37 5 60183269 60183269 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:60183269C>G ENST00000426742.2 - 12 1380 c.946G>C c.(946-948)Gag>Cag p.E316Q ERCC8_ENST00000543101.1_Missense_Mutation_p.E221Q|ERCC8_ENST00000462279.1_5'UTR|ERCC8_ENST00000265038.5_Missense_Mutation_p.E374Q Q13216 ERCC8_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 8 374 positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|transcription-coupled nucleotide-excision repair Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction protein binding|protein complex binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 14 Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077) ATATTTACCTCATCATCATCA 0.348000 33 96 0 0 0.045705 0 0 WDR77 79084 broad.mit.edu 37 1 111989744 111989744 + Nonsense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:111989744G>A ENST00000235090.5 - 4 672 c.466C>T c.(466-468)Cag>Tag p.Q156* WDR77_ENST00000497278.1_5'UTR|WDR77_ENST00000411751.2_Intron NM_024102.2 NP_077007.1 Q9BQA1 MEP50_HUMAN WD repeat domain 77 156 ncRNA metabolic process|spliceosomal snRNP assembly cytosol|nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) ACCACCTGCTGAGCAAGGTCC 0.388000 31 116 0 0 0.050027 0 0 DNAH5 1767 broad.mit.edu 37 5 13864529 13864529 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:13864529G>A ENST00000265104.4 - 28 4677 c.4573C>T c.(4573-4575)Ctg>Ttg p.L1525L CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1525 Stem (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) TTATATTTCAGAAGAGGTGCC 0.408000 Kartagener syndrome 13 176 0 0 0.105934 0 0 PLK2 10769 broad.mit.edu 37 5 57755707 57755707 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:57755707C>T ENST00000274289.3 - 1 380 c.80G>A c.(79-81)gGa>gAa p.G27E NM_001252226.1|NM_006622.3 NP_001239155.1|NP_006613.2 Q9NYY3 PLK2_HUMAN polo-like kinase 2 27 positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2) 26 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) CGAGTCCGCTCCGCAACCCTT 0.682000 4 35 0 0 0.021553 0 0 GNA15 2769 broad.mit.edu 37 19 3148635 3148635 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:3148635C>T ENST00000262958.3 + 2 450 c.192C>T c.(190-192)atC>atT p.I64I AC005264.2_ENST00000587587.1_RNA NM_002068.2 NP_002059.2 P30679 GNA15_HUMAN guanine nucleotide binding protein (G protein), alpha 15 (Gq class) 64 activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184) AGATGCGGATCATCCACGGCG 0.657000 4 8 0 0 0.009096 0 0 DEPDC5 9681 broad.mit.edu 37 22 32210996 32210996 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr22:32210996G>C ENST00000400246.1 + 21 1606 c.1464G>C c.(1462-1464)gaG>gaC p.E488D DEPDC5_ENST00000536766.1_Missense_Mutation_p.E460D|DEPDC5_ENST00000400248.1_Missense_Mutation_p.E488D|DEPDC5_ENST00000400249.2_Missense_Mutation_p.E488D|DEPDC5_ENST00000382111.2_Missense_Mutation_p.E488D|DEPDC5_ENST00000382112.3_Missense_Mutation_p.E488D|DEPDC5_ENST00000266091.3_Missense_Mutation_p.E488D|DEPDC5_ENST00000535622.1_Missense_Mutation_p.E488D|DEPDC5_ENST00000382105.2_Missense_Mutation_p.E488D|DEPDC5_ENST00000400242.3_Missense_Mutation_p.E488D O75140 DEPD5_HUMAN DEP domain containing 5 488 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 GAGAGCGAGAGAGTCACAGTC 0.532000 5 169 0 0 0.029380 0 0 NRXN1 9378 broad.mit.edu 37 2 50850564 50850564 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:50850564G>T ENST00000404971.1 - 7 2460 c.1121C>A c.(1120-1122)tCt>tAt p.S374Y NRXN1_ENST00000406859.3_Missense_Mutation_p.S341Y|NRXN1_ENST00000401669.2_Missense_Mutation_p.S341Y|NRXN1_ENST00000402717.3_Missense_Mutation_p.S341Y|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.S341Y|NRXN1_ENST00000406316.2_Missense_Mutation_p.S341Y NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 341 Laminin G-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) AATGACCAGAGAGACAGCTCC 0.438000 30 146 5.8336e-16 6.29226e-16 0.059317 1 0 FDPS 2224 broad.mit.edu 37 1 155279994 155279994 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:155279994G>A ENST00000356657.6 + 3 499 c.337G>A c.(337-339)Gag>Aag p.E113K FDPS_ENST00000447866.1_Missense_Mutation_p.E47K|RP11-21N7.2_ENST00000429648.1_RNA|FDPS_ENST00000368356.4_Missense_Mutation_p.E113K|FDPS_ENST00000487002.1_3'UTR NM_001135821.1 NP_001129293.1 P14324 FPPS_HUMAN farnesyl diphosphate synthase 113 cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process cytosol|nucleus dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399) CCGGCTCAAGGAGGTGAGGGA 0.517000 9 67 0 0 0.047766 0 0 WAPAL 23063 broad.mit.edu 37 10 88260338 88260338 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr10:88260338G>A ENST00000298767.5 - 3 1134 c.662C>T c.(661-663)tCa>tTa p.S221L NM_015045.2 NP_055860.1 Q7Z5K2 WAPL_HUMAN wings apart-like homolog (Drosophila) 221 Mediates interaction with the cohesin complex. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 TTCTGATGGTGATTCTGGCCT 0.373000 39 335 0 0 0.092188 0 0 GPRASP1 9737 broad.mit.edu 37 X 101911992 101911992 + Nonsense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:101911992C>T ENST00000537097.1 + 6 3964 c.3151C>T c.(3151-3153)Cag>Tag p.Q1051* GPRASP1_ENST00000444152.1_Nonsense_Mutation_p.Q1051*|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Nonsense_Mutation_p.Q1051*|GPRASP1_ENST00000415986.1_Nonsense_Mutation_p.Q1051* NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 1051 OPRD1-binding. cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GGTCACTGTTCAGTTCAAGCC 0.532000 147 243 0 0 0.139131 0 0 CAPS 828 broad.mit.edu 37 19 5914740 5914740 + Silent SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:5914740C>A ENST00000588776.1 + 3 2875 c.508C>A c.(508-510)Cgg>Agg p.R170R CAPS_ENST00000222125.5_Silent_p.R84R|CAPS_ENST00000452990.2_Silent_p.R84R Q13938 CAYP1_HUMAN calcyphosine 84 EF-hand 4. intracellular signal transduction cytoplasm calcium ion binding cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1) 4 GGAGTTCCTTCGGGCGCTGCG 0.667000 30 109 2.61193e-14 2.80352e-14 0.144211 1 0 CHST5 23563 broad.mit.edu 37 16 75563052 75563052 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr16:75563052C>G ENST00000336257.3 - 3 2625 c.1231G>C c.(1231-1233)Gac>Cac p.D411H CHST5_ENST00000541075.1_Missense_Mutation_p.D417H|RP11-77K12.7_ENST00000460606.1_3'UTR NM_024533.4 NP_078809.2 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 411 N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24 AGTTCTCAGTCAGGCGATGCC 0.662000 14 28 0 0 0.146539 0 0 MRC2 9902 broad.mit.edu 37 17 60758228 60758228 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:60758228G>A ENST00000303375.5 + 17 2943 c.2541G>A c.(2539-2541)gcG>gcA p.A847A NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 847 C-type lectin 5. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 CCACGTGGGCGCAGGCGCAGC 0.667000 3 46 0 0 0.009096 0 0 HAP1 9001 broad.mit.edu 37 17 39881246 39881246 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:39881246C>G ENST00000393939.2 - 10 1501 c.1492G>C c.(1492-1494)Gag>Cag p.E498Q HAP1_ENST00000347901.4_Missense_Mutation_p.E523Q|HAP1_ENST00000341193.5_Missense_Mutation_p.E506Q|HAP1_ENST00000310778.5_Missense_Mutation_p.E575Q|JUP_ENST00000540235.1_Intron P54257 HAP1_HUMAN huntingtin-associated protein 1 558 Glu-rich. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) ACCCCTTCCTCAGCCGGCACC 0.627000 187 410 0 0 0.139131 0 0 TCEA2 6919 broad.mit.edu 37 20 62701226 62701226 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr20:62701226C>T ENST00000395053.3 + 6 724 c.569C>T c.(568-570)gCt>gTt p.A190V TCEA2_ENST00000361317.2_Intron|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000343484.5_Intron Q15560 TCEA2_HUMAN transcription elongation factor A (SII), 2 0 TFIIS central. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent transcription elongation factor complex DNA binding|protein binding|translation elongation factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7) 12 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) AGTCAGGAGGCTGCCTGGCCT 0.652000 OREG0026140 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 35 0 0 0.038395 0 0 TRAV8-6 28680 broad.mit.edu 37 14 22447272 22447272 + RNA SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:22447272G>C ENST00000390443.3 + 0 473 TTTTGAGGCTGAATTTAACAA 0.468000 OREG0022573 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 132 0 0 0.098360 0 0 CCNB3 85417 broad.mit.edu 37 X 50089689 50089689 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:50089689C>T ENST00000376042.1 + 10 3991 c.3693C>T c.(3691-3693)atC>atT p.I1231I CCNB3_ENST00000276014.7_Silent_p.I1231I|CCNB3_ENST00000348603.2_Silent_p.I127I|CCNB3_ENST00000376038.1_Silent_p.I127I Q8WWL7 CCNB3_HUMAN cyclin B3 1231 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) TTGTGTACATCTGTGATGATA 0.463000 21 189 0 0 0.062417 0 0 COL16A1 1307 broad.mit.edu 37 1 32160810 32160810 + Missense_Mutation SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:32160810C>A ENST00000373672.3 - 11 1474 c.958G>T c.(958-960)Gtc>Ttc p.V320F COL16A1_ENST00000373668.3_Missense_Mutation_p.V320F|COL16A1_ENST00000271069.6_Missense_Mutation_p.V320F NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 320 Nonhelical region 10 (NC10). cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) GCACCATGGACACAGGGCGGA 0.627000 12 46 3.07112e-06 3.18728e-06 0.080935 1 0 COL6A1 1291 broad.mit.edu 37 21 47422131 47422131 + Splice_Site SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr21:47422131G>C ENST00000361866.3 + 32 2180 c.e32-1 COL6A1_ENST00000498614.1_Splice_Site NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) TTGCTATGCAGAGCCATCAAG 0.711000 2 13 0 0 0.115264 0 0 BAGE2 85319 broad.mit.edu 37 21 11038916 11038916 + RNA SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr21:11038916G>A ENST00000470054.1 - 0 1287 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGGGGAGGAAGACACATCTGC 0.428000 47 412 0 0 0.139131 0 0 SVEP1 79987 broad.mit.edu 37 9 113243615 113243615 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:113243615C>T ENST00000401783.2 - 12 2608 c.2272G>A c.(2272-2274)Gat>Aat p.D758N SVEP1_ENST00000374469.1_Missense_Mutation_p.D735N|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.D758N|SVEP1_ENST00000374461.1_Missense_Mutation_p.D735N NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 758 Sushi 4. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TCTGTGAAATCATAGCCCTCC 0.413000 6 45 0 0 0.021553 0 0 HAP1 9001 broad.mit.edu 37 17 39881154 39881154 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:39881154C>T ENST00000393939.2 - 10 1593 c.1584G>A c.(1582-1584)atG>atA p.M528I HAP1_ENST00000347901.4_Missense_Mutation_p.M553I|HAP1_ENST00000341193.5_Missense_Mutation_p.M536I|HAP1_ENST00000310778.5_Missense_Mutation_p.M605I|JUP_ENST00000540235.1_Intron P54257 HAP1_HUMAN huntingtin-associated protein 1 605 Glu-rich. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) TCACCACGTTCATCCGCGTTG 0.607000 184 319 0 0 0.139131 0 0 RABGAP1 23637 broad.mit.edu 37 9 125772653 125772653 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:125772653G>C ENST00000373647.4 + 11 1529 c.1395G>C c.(1393-1395)aaG>aaC p.K465N NM_012197.3 NP_036329.3 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 465 cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 GGGAGAGAAAGAATAATACTG 0.318000 33 128 0 0 0.045705 0 0 MED13 9969 broad.mit.edu 37 17 60060429 60060429 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:60060429G>C ENST00000397786.2 - 16 3011 c.2935C>G c.(2935-2937)Caa>Gaa p.Q979E NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 979 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 GTATGAGTTTGAGGTGTATAA 0.418000 9 62 0 0 0.069234 0 0 ARHGEF16 27237 broad.mit.edu 37 1 3394440 3394440 + Splice_Site SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:3394440C>G ENST00000378378.4 + 11 1880 c.1473_splice c.e11-1 p.S492_splice ARHGEF16_ENST00000413250.2_Splice_Site_p.S196_splice|ARHGEF16_ENST00000378373.1_Splice_Site_p.S204_splice|ARHGEF16_ENST00000378371.2_Splice_Site_p.S204_splice NM_014448.3 NP_055263.2 Q5VV41 ARHGG_HUMAN Rho guanine nucleotide exchange factor (GEF) 16 492 activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity lung(6)|ovary(1) 7 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) TCCCCCCAGTCCCTCCCACTG 0.637000 15 79 0 0 0.038395 0 0 RTF1 23168 broad.mit.edu 37 15 41762577 41762577 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr15:41762577G>T ENST00000389629.4 + 7 1024 c.1012G>T c.(1012-1014)Gat>Tat p.D338Y NM_015138.4 NP_055953.3 Q92541 RTF1_HUMAN Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) 338 Glu-rich. histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent nucleoplasm protein binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 18 all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119) ATCATCGTCTGATGAAGAAGA 0.443000 41 369 9.39024e-22 1.04362e-21 0.111260 1 0 OR6B3 150681 broad.mit.edu 37 2 240985470 240985470 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:240985470G>T ENST00000319423.4 - 1 19 c.20C>A c.(19-21)aCc>aAc p.T7N NM_173351.1 NP_775486.1 Q8NGW1 OR6B3_HUMAN olfactory receptor, family 6, subfamily B, member 3 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1) 18 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) GCCGACCCTGGTGACATTCTC 0.597000 28 18 2.65835e-16 2.88152e-16 0.125774 1 0 AJAP1 55966 broad.mit.edu 37 1 4772109 4772109 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:4772109C>T ENST00000378191.4 + 2 560 c.179C>T c.(178-180)cCg>cTg p.P60L AJAP1_ENST00000378190.3_Missense_Mutation_p.P60L|AJAP1_ENST00000466761.1_3'UTR NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 60 cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane p.P60L(1) endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) ccgccccggccgccccggcTG 0.731000 25 75 0 0 0.125774 0 0 ARFIP1 27236 broad.mit.edu 37 4 153784795 153784795 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr4:153784795C>T ENST00000451320.2 + 3 295 c.131C>T c.(130-132)tCa>tTa p.S44L ARFIP1_ENST00000353617.2_Missense_Mutation_p.S44L|ARFIP1_ENST00000511289.1_3'UTR|ARFIP1_ENST00000405727.2_Missense_Mutation_p.S44L|ARFIP1_ENST00000429148.2_Intron|ARFIP1_ENST00000356064.3_Missense_Mutation_p.S44L P53367 ARFP1_HUMAN ADP-ribosylation factor interacting protein 1 44 intracellular protein transport|regulation of protein secretion cytosol|Golgi membrane ARFIP1/FHDC1(2) cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 14 all_hematologic(180;0.093) CTTGGTCTCTCAGAAACCCAA 0.358000 12 106 0 0 0.093190 0 0 CTAGE1 64693 broad.mit.edu 37 18 19996658 19996658 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr18:19996658C>T ENST00000391403.2 - 1 1220 c.1117G>A c.(1117-1119)Gag>Aag p.E373K NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 373 integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) CATTTTTCCTCTACTATTAAT 0.368000 17 109 0 0 0.033300 0 0 NUP210L 91181 broad.mit.edu 37 1 153984740 153984740 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:153984740C>T ENST00000368559.3 - 34 4831 c.4760G>A c.(4759-4761)aGa>aAa p.R1587K NUP210L_ENST00000271854.3_Missense_Mutation_p.R1587K|NUP210L_ENST00000368553.1_Missense_Mutation_p.R520K NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 1587 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) GACACCATTTCTGCCAGTGGT 0.383000 14 172 0 0 0.038395 0 0 BBX 56987 broad.mit.edu 37 3 107491933 107491933 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:107491933G>C ENST00000415149.2 + 11 1692 c.1365G>C c.(1363-1365)aaG>aaC p.K455N BBX_ENST00000416476.2_Intron|BBX_ENST00000402543.1_Missense_Mutation_p.K455N|BBX_ENST00000325805.8_Missense_Mutation_p.K455N|BBX_ENST00000406780.1_Missense_Mutation_p.K455N NM_001142568.1|NM_020235.5 NP_001136040.1|NP_064620.2 Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 455 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) AGAAAAAGAAGAAAAGCAAAA 0.388000 160 77 0 0 0.139131 0 0 SLC10A7 84068 broad.mit.edu 37 4 147431156 147431156 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr4:147431156G>T ENST00000432059.2 - 3 475 c.229C>A c.(229-231)Cag>Aag p.Q77K SLC10A7_ENST00000335472.7_Missense_Mutation_p.Q77K|SLC10A7_ENST00000394062.3_Missense_Mutation_p.Q77K|SLC10A7_ENST00000394059.4_Missense_Mutation_p.Q77K|SLC10A7_ENST00000511374.1_Intron|SLC10A7_ENST00000264986.3_Intron|SLC10A7_ENST00000507030.1_Missense_Mutation_p.Q77K|SLC10A7_ENST00000511315.1_5'UTR Q0GE19 NTCP7_HUMAN solute carrier family 10, member 7 77 integral to membrane bile acid:sodium symporter activity endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1) 16 all_hematologic(180;0.151) GTAAAGATCTGAATAAAAAGA 0.353000 29 50 1.30897e-18 1.44382e-18 0.144211 1 0 USP3 9960 broad.mit.edu 37 15 63866568 63866568 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr15:63866568G>T ENST00000268049.7 + 12 1320 c.996G>T c.(994-996)aaG>aaT p.K332N USP3_ENST00000540797.1_Missense_Mutation_p.K310N|USP3_ENST00000539772.1_Missense_Mutation_p.K105N|USP3_ENST00000558285.1_Missense_Mutation_p.K337N|USP3-AS1_ENST00000560350.1_RNA|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000536001.1_3'UTR|USP3_ENST00000380324.3_Missense_Mutation_p.K354N|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000559711.1_Missense_Mutation_p.K265N Q9Y6I4 UBP3_HUMAN ubiquitin specific peptidase 3 354 DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process nuclear chromatin histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(3)|large_intestine(7)|lung(4) 14 GBM - Glioblastoma multiforme(80;0.0187) AGCGCTCTAAGAATCAAGAAA 0.323000 4 77 0.00116845 0.00119848 0.021553 1 0 ZZEF1 23140 broad.mit.edu 37 17 4015950 4015950 + Missense_Mutation SNP A A C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:4015950A>C ENST00000381638.2 - 5 1143 c.1019T>G c.(1018-1020)gTc>gGc p.V340G ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 340 DOC. calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 ATAGCCAGTGACATTGCTGGG 0.512000 31 69 0 0 0.064281 0 0 BBX 56987 broad.mit.edu 37 3 107492191 107492191 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:107492191G>A ENST00000415149.2 + 11 1950 c.1623G>A c.(1621-1623)gaG>gaA p.E541E BBX_ENST00000416476.2_Intron|BBX_ENST00000402543.1_Silent_p.E541E|BBX_ENST00000325805.8_Silent_p.E541E|BBX_ENST00000406780.1_Silent_p.E541E NM_001142568.1|NM_020235.5 NP_001136040.1|NP_064620.2 Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 541 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) TGTCAAAGGAGAAATCCTCAG 0.433000 18 51 0 0 0.139131 0 0 YIPF1 54432 broad.mit.edu 37 1 54332512 54332512 + Silent SNP T T C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:54332512T>C ENST00000072644.1 - 8 903 c.567A>G c.(565-567)aaA>aaG p.K189K YIPF1_ENST00000371399.1_Silent_p.K6K|YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000539954.1_Silent_p.K214K NM_018982.4 NP_061855.1 Q9Y548 YIPF1_HUMAN Yip1 domain family, member 1 189 integral to membrane|transport vesicle endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2) 19 TGTTCATAACTTTGCTGTTTC 0.458000 8 82 0 0 0.047766 0 0 CAMK2B 816 broad.mit.edu 37 7 44281890 44281890 + Missense_Mutation SNP A A G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:44281890A>G ENST00000395749.2 - 10 822 c.746T>C c.(745-747)aTc>aCc p.I249T CAMK2B_ENST00000258682.6_Missense_Mutation_p.I249T|CAMK2B_ENST00000440254.2_Missense_Mutation_p.I249T|CAMK2B_ENST00000395747.2_Missense_Mutation_p.I249T|CAMK2B_ENST00000353625.4_Missense_Mutation_p.I249T|CAMK2B_ENST00000350811.3_Missense_Mutation_p.I249T|CAMK2B_ENST00000347193.4_Missense_Mutation_p.I249T|CAMK2B_ENST00000346990.4_Missense_Mutation_p.I249T|CAMK2B_ENST00000502837.2_Missense_Mutation_p.I120T|CAMK2B_ENST00000358707.3_Missense_Mutation_p.I249T|CAMK2B_ENST00000457475.1_Missense_Mutation_p.I249T NM_001220.4 NP_001211.3 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II beta 249 Protein kinase. interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 CATCTGGTTGATGAGGTTTTT 0.627000 45 95 0 0 0.139131 0 0 APPL1 26060 broad.mit.edu 37 3 57291322 57291322 + Silent SNP A A G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:57291322A>G ENST00000288266.3 + 15 1443 c.1296A>G c.(1294-1296)ggA>ggG p.G432G NM_012096.2 NP_036228.1 Q9UKG1 DP13A_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 432 apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import cytosol|early endosome membrane|microsome|nucleus|vesicle membrane protein kinase B binding breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144) GATCCTTAGGATCTGAGTCTA 0.433000 70 41 0 0 0.139131 0 0 ZNF331 55422 broad.mit.edu 37 19 54080952 54080952 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:54080952G>A ENST00000253144.9 + 7 2471 c.1138G>A c.(1138-1140)Gaa>Aaa p.E380K ZNF331_ENST00000511154.1_Missense_Mutation_p.E380K|ZNF331_ENST00000411977.2_Missense_Mutation_p.E380K|ZNF331_ENST00000449416.1_Missense_Mutation_p.E380K|ZNF331_ENST00000513999.1_Missense_Mutation_p.E380K|ZNF331_ENST00000512387.1_Missense_Mutation_p.E380K|ZNF331_ENST00000511593.2_Missense_Mutation_p.E380K NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 380 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) CCACACAGGCGAAACCCCGTA 0.498000 T ? follicular thyroid adenoma 31 56 0 0 0.045705 0 0 ANKLE2 23141 broad.mit.edu 37 12 133306305 133306305 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:133306305C>G ENST00000539605.1 - 10 8941 c.2257G>C c.(2257-2259)Gag>Cag p.E753Q ANKLE2_ENST00000542282.1_Missense_Mutation_p.E170Q|ANKLE2_ENST00000542657.1_Missense_Mutation_p.E170Q|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000357997.5_Missense_Mutation_p.E815Q Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 815 cytoplasm|integral to membrane|nuclear envelope NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2) 45 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) CTGGTGACCTCGAGCTGATCC 0.597000 10 154 0 0 0.080935 0 0 MFSD2A 84879 broad.mit.edu 37 1 40422867 40422867 + Nonsense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:40422867C>T ENST00000372809.5 + 2 345 c.202C>T c.(202-204)Cag>Tag p.Q68* MFSD2A_ENST00000420632.2_Intron|MFSD2A_ENST00000372811.5_Nonsense_Mutation_p.Q68* NM_001136493.1 NP_001129965.1 Q8NA29 MFS2A_HUMAN major facilitator superfamily domain containing 2A 68 transmembrane transport endoplasmic reticulum membrane|integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 TTTCTTCCTTCAGATCTACCT 0.527000 150 284 0 0 0.139131 0 0 STON2 85439 broad.mit.edu 37 14 81743806 81743806 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:81743806C>T ENST00000555447.1 - 6 2261 c.1849G>A c.(1849-1851)Gac>Aac p.D617N STON2_ENST00000267540.2_Missense_Mutation_p.D617N NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 617 MHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) ACGAGGATGTCATTGAGGCCC 0.532000 17 142 0 0 0.038395 0 0 PHKG2 5261 broad.mit.edu 37 16 30767526 30767526 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr16:30767526C>G ENST00000563588.1 + 7 819 c.580C>G c.(580-582)Cta>Gta p.L194V PHKG2_ENST00000424889.3_Missense_Mutation_p.L194V|PHKG2_ENST00000328273.7_Missense_Mutation_p.L194V NM_000294.2 NP_000285.1 P15735 PHKG2_HUMAN phosphorylase kinase, gamma 2 (testis) 194 Protein kinase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity ovary(1)|skin(1) 2 Colorectal(24;0.198) CCCAGGGTATCTAGCGCCAGA 0.597000 77 183 0 0 0.139131 0 0 CROCCP2 84809 broad.mit.edu 37 1 16960898 16960913 + RNA DEL GTGTGTGTGTGTGTGC GTGTGTGTGTGTGTGC - rs71703041 by1000genomes TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:16960898_16960913delGTGTGTGTGTGTGTGC ENST00000412962.1 - 0 16 gtgtgtgtgtgtgtgtgtgtgtgtgcgcgtgtgtgA 0.431 2 4 --- --- --- --- FGGY 55277 broad.mit.edu 37 1 59812016 59812017 + Frame_Shift_Ins INS - - G rs145440779 by1000genomes TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:59812016_59812017insG ENST00000371218.4 + 4 595_596 c.411_412insG c.(409-414)gtggggfs p.VG137fs FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Intron NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 137 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) TCCAGTACGTCGGGGGGGTGAT 0.500 11 68 --- --- --- --- FNDC7 163479 broad.mit.edu 37 1 109275982 109275990 + In_Frame_Del DEL TTACAGCAC TTACAGCAC - TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:109275982_109275990delTTACAGCAC ENST00000370017.3 + 10 2245_2253 c.1968_1976delTTACAGCAC c.(1966-1977)aat>aa p.NYST656del FNDC7_ENST00000271311.2_In_Frame_Del_p.NYST657del NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 657 Fibronectin type-III 8. 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) GCTCTGCCAATTACAGCACTGACCTCTAT 0.531 58 158 --- --- --- --- KDM5B 10765 broad.mit.edu 37 1 202742383 202742383 + Frame_Shift_Del DEL A A - TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:202742383delA ENST00000367265.3 - 4 1603 c.439delT c.(439-441)gcfs p.C147fs KDM5B_ENST00000367264.2_Frame_Shift_Del_p.C147fs NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 147 ARID. negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 CTATCCTTGCAAACAACTGCA 0.388 41 87 --- --- --- --- LRPPRC 10128 broad.mit.edu 37 2 44174430 44174430 + Frame_Shift_Del DEL A A - TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:44174430delA ENST00000260665.7 - 20 2102 c.2045delT c.(2044-2046)cafs p.L682fs NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 682 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GAGTTGCTTTAGGACATCTCT 0.299 26 54 --- --- --- --- ARHGAP15 55843 broad.mit.edu 37 2 144381721 144381727 + Frame_Shift_Del DEL CGACAGC CGACAGC - rs138120208 TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:144381721_144381727delCGACAGC ENST00000295095.6 + 12 1190_1196 c.1023_1029delCGACAGC c.(1021-1029)gafs p.DDS341fs NM_018460.3 NP_060930.3 Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 341 Rho-GAP. regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) TGAATTTGGACGACAGCCAGTGGGAGG 0.449 27 47 --- --- --- --- HSPD1 3329 broad.mit.edu 37 2 198353732 198353732 + Frame_Shift_Del DEL C C - TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:198353732delC ENST00000388968.3 - 9 1476 c.1209delG c.(1207-1209)gtfs p.V403fs HSPD1_ENST00000345042.2_Frame_Shift_Del_p.V403fs NM_002156.4 NP_002147.2 P10809 CH60_HUMAN heat shock 60kDa protein 1 (chaperonin) 403 'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1) 17 Epithelial(96;0.225) TTACCTTCAGCACAGCCACTC 0.363 51 133 --- --- --- --- BBX 56987 broad.mit.edu 37 3 107492152 107492152 + Frame_Shift_Del DEL G G - TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:107492152delG ENST00000415149.2 + 11 1911 c.1584delG c.(1582-1584)aafs p.K530fs BBX_ENST00000402543.1_Frame_Shift_Del_p.K530fs|BBX_ENST00000416476.2_Intron|BBX_ENST00000325805.8_Frame_Shift_Del_p.K530fs|BBX_ENST00000406780.1_Frame_Shift_Del_p.K530fs NM_001142568.1|NM_020235.5 NP_001136040.1|NP_064620.2 Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 530 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) AGCCACCAAAGAAAAAAGTGA 0.448 41 93 --- --- --- --- DBR1 51163 broad.mit.edu 37 3 137880741 137880743 + In_Frame_Del DEL TCG TCG - rs2622736 byFrequency TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:137880741_137880743delTCG ENST00000260803.4 - 8 1776_1778 c.1623_1625delCGA c.(1621-1626)gat>ga p.DD541del DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 541 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 TTAAGCTGCATCGTCATCATCAT 0.394 8 440 --- --- --- --- CCNG2 901 broad.mit.edu 37 4 78081937 78081939 + In_Frame_Del DEL GAA GAA - TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr4:78081937_78081939delGAA ENST00000316355.5 + 4 696_698 c.340_342delGAA c.(340-342)del p.E115del CCNG2_ENST00000354403.5_In_Frame_Del_p.E115del|CCNG2_ENST00000395640.1_In_Frame_Del_p.E115del|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000502280.1_In_Frame_Del_p.E115del|CCNG2_ENST00000509972.1_In_Frame_Del_p.E115del NM_004354.2 NP_004345.1 Q16589 CCNG2_HUMAN cyclin G2 115 cell cycle checkpoint|cell division|mitosis cytoplasm breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 TAGAATAGTTGAAGAAGACTGCA 0.365 71 183 --- --- --- --- PODXL 5420 broad.mit.edu 37 7 131241029 131241030 + In_Frame_Ins INS - - GGCGAC rs11277659 by1000genomes TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:131241029_131241030insGGCGAC ENST00000541194.1 - 1 346_347 c.89_90insGTCGCC c.(88-90)ctc>cGTCGCCtc p.29_30insRR PODXL_ENST00000322985.9_In_Frame_Ins_p.29_30insRR|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000378555.3_In_Frame_Ins_p.29_30insRR|PODXL_ENST00000537928.1_In_Frame_Ins_p.29_30insRR NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 29 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.P30_S31delPS(2) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) CATTCTGGGAGggcgacggcga 0.752 5 8 --- --- --- --- RP11-10H3.1 0 broad.mit.edu 37 8 50103381 50103382 + RNA INS - - CTTT TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr8:50103381_50103382insCTTT ENST00000518222.1 + 0 271 ccccactctccctttctttctt 0.386 2 4 --- --- --- --- CSMD3 114788 broad.mit.edu 37 8 113697953 113697953 + Frame_Shift_Del DEL G G - TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr8:113697953delG ENST00000297405.5 - 15 2408 c.2164delC c.(2164-2166)tgfs p.L722fs CSMD3_ENST00000343508.3_Frame_Shift_Del_p.L682fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.L618fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.L722fs NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 722 CUB 4. 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 AAGTTAGACAGGCAGGGAACT 0.318 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 108 99 --- --- --- --- PRUNE2 158471 broad.mit.edu 37 9 79320938 79320939 + Frame_Shift_Ins INS - - CCAT TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:79320938_79320939insCCAT ENST00000428286.1 - 8 6374_6375 c.5174_5175insATGG c.(5173-5175)ggafs p.-1724fs PRUNE2_ENST00000376718.3_Frame_Shift_Ins_p.-2083fs Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CAGGATTCTCACCATCTGCTTT 0.490 46 261 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651191 1651199 + In_Frame_Del DEL GGCTGTGGA GGCTGTGGA - rs71025763 TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:1651191_1651199delGGCTGTGGA ENST00000399676.2 + 1 159_167 c.121_129delGGCTGTGGA c.(121-129)del p.GCG47del NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 47 keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ctgtggctccggctgtggaggctgtgggg 0.713 11 54 --- --- --- --- NRIP3 56675 broad.mit.edu 37 11 9009738 9009744 + Frame_Shift_Del DEL TTCGTCT TTCGTCT - rs150007282 TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:9009738_9009744delTTCGTCT ENST00000309166.3 - 2 373_379 c.260_266delAGACGAA c.(259-267)acfs p.KTN87fs NRIP3_ENST00000531090.1_Frame_Shift_Del_p.KTN87fs NM_020645.2 NP_065696.1 Q9NQ35 NRIP3_HUMAN nuclear receptor interacting protein 3 87 proteolysis aspartic-type endopeptidase activity large_intestine(1)|lung(4)|skin(1)|stomach(1) 7 Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241) ATTGAGTTTGTTCGTCTTAGAGGCCCA 0.483 57 208 --- --- --- --- RP11-807H22.7 0 broad.mit.edu 37 11 71918385 71918386 + RNA INS - - A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:71918385_71918386insA ENST00000378140.3 - 0 195 aggaaggaaggaaggaaggaag 0.450 2 4 --- --- --- --- TFCP2 7024 broad.mit.edu 37 12 51504737 51504739 + In_Frame_Del DEL GAT GAT - TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:51504737_51504739delGAT ENST00000307660.4 - 5 1205_1207 c.485_487delATC c.(484-489)gct>g p.DP162del TFCP2_ENST00000548115.1_In_Frame_Del_p.DP162del|TFCP2_ENST00000257915.5_In_Frame_Del_p.DP162del|TFCP2_ENST00000549867.1_In_Frame_Del_p.DP162del NM_001173453.1 NP_001166924.1 Q12800 TFCP2_HUMAN transcription factor CP2 162 DNA-binding. regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 23 TTAGCCCTAGGATCGATTATACC 0.409 84 234 --- --- --- --- RECQL5 9400 broad.mit.edu 37 17 73626918 73626919 + Splice_Site INS - - TG rs142406301 by1000genomes TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:73626918_73626919insTG ENST00000317905.5 - 12 1745 c.e12-1 RECQL5_ENST00000443199.2_Splice_Site|RECQL5_ENST00000423245.2_Splice_Site NM_004259.6 NP_004250.4 O94762 RECQ5_HUMAN RecQ protein-like 5 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding p.?(1) breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) CAGTTCTCATCTGTGGGGGGGG 0.644 Other identified genes with known or suspected DNA repair function 4 8 --- --- --- --- AC008984.2 0 broad.mit.edu 37 19 54843564 54843565 + RNA INS - - C rs144647366 by1000genomes TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:54843564_54843565insC ENST00000507363.1 - 0 430 CGGCTGCTCCTCCCCAGGCTGC 0.723 3 3 --- --- --- --- MIR646HG 284757 broad.mit.edu 37 20 58889874 58889875 + RNA INS - - CATT TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr20:58889874_58889875insCATT ENST00000432910.1 + 0 332 NR_046099.1 atccatcctcccatcctcccat 0.545 2 4 --- --- --- ---