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 ZBED2 79413 broad.mit.edu 37 3 111312476 111312476 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr3:111312476C>T ENST00000317012.4 - 2 1581 c.573G>A c.(571-573)atG>atA p.M191I CD96_ENST00000352690.4_Intron|CD96_ENST00000438817.2_Intron|CD96_ENST00000283285.5_Intron NM_024508.4 NP_078784.2 Q9BTP6 ZBED2_HUMAN zinc finger, BED-type containing 2 191 DNA binding|metal ion binding large_intestine(3)|lung(1)|skin(2) 6 CCTTCCACTTCATCTCCAGGA 0.557000 7 56 0 0 0.000157383 0 0 EPSTI1 94240 broad.mit.edu 37 13 43462503 43462503 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr13:43462503G>A ENST00000313640.7 - 13 1180 c.1116C>T c.(1114-1116)gaC>gaT p.D372D EPSTI1_ENST00000313624.7_3'UTR NM_001002264.2 NP_001002264.1 Q96J88 ESIP1_HUMAN epithelial stromal interaction 1 (breast) 0 endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1) 17 Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858) TGACTGCACGGTCAAGTGTGT 0.428000 15 41 0 0 0.000308642 0 0 TAAR9 134860 broad.mit.edu 37 6 132859650 132859650 + RNA SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:132859650G>A ENST00000434551.1 + 0 222 NM_175057.3 NP_778227.3 Q96RI9 TAAR9_HUMAN trace amine associated receptor 9 (gene/pseudogene) plasma membrane G-protein coupled receptor activity Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816) TTGCGTCGCTGGCCTGTGCTG 0.498000 7 73 0 0 0.000157383 0 0 DNAH3 55567 broad.mit.edu 37 16 20975459 20975459 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr16:20975459G>A ENST00000261383.3 - 53 9746 c.9747C>T c.(9745-9747)tcC>tcT p.S3249S DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3249 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TGTTACCCTTGGACATGGAGA 0.433000 25 133 0 0 0.000586117 0 0 ZNF831 128611 broad.mit.edu 37 20 57829603 57829603 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr20:57829603G>A ENST00000371030.2 + 5 4839 c.4839G>A c.(4837-4839)agG>agA p.R1613R NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1613 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GTGACGGTAGGAAACGTCAGG 0.493000 7 65 0 0 8.12818e-05 0 0 C1QTNF9B 387911 broad.mit.edu 37 13 24470978 24470978 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr13:24470978C>T ENST00000382137.3 - 1 216 c.148G>A c.(148-150)Ggt>Agt p.G50S C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.G50S|C1QTNF9B_ENST00000382145.1_Missense_Mutation_p.G50S|C1QTNF9B_ENST00000382057.3_Missense_Mutation_p.G50S NM_001007537.1 NP_001007538.1 B2RNN3 C1T9B_HUMAN C1q and tumor necrosis factor related protein 9B 50 Collagen-like 1. collagen breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1) 6 CCTTTGTCACCCTTCGCTCCG 0.532000 5 28 0 0 0.000274275 0 0 FAT3 120114 broad.mit.edu 37 11 92592355 92592355 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:92592355G>A ENST00000298047.6 + 20 11542 c.11525G>A c.(11524-11526)gGa>gAa p.G3842E FAT3_ENST00000409404.2_Missense_Mutation_p.G3842E|FAT3_ENST00000525166.1_Missense_Mutation_p.G3692E|FAT3_ENST00000533797.1_Missense_Mutation_p.G177E Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3842 Laminin G-like. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGCTTTGCTGGAAACAGTTAC 0.388000 TCGA Ovarian(4;0.039) 47 277 0 0 0.000781405 0 0 CPEB2 132864 broad.mit.edu 37 4 15009173 15009173 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr4:15009173G>A ENST00000538197.1 + 2 1907 c.1907G>A c.(1906-1908)aGa>aAa p.R636K CPEB2_ENST00000507071.1_Missense_Mutation_p.R199K|CPEB2_ENST00000259997.5_Missense_Mutation_p.R199K|CPEB2_ENST00000541112.1_Missense_Mutation_p.R636K|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000442003.2_Missense_Mutation_p.R636K|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000382401.3_Missense_Mutation_p.R199K|CPEB2_ENST00000382395.3_Missense_Mutation_p.R199K|CPEB2_ENST00000345451.3_Missense_Mutation_p.R199K NM_001177382.1 NP_001170853.1 Q7Z5Q1 CPEB2_HUMAN cytoplasmic polyadenylation element binding protein 2 199 regulation of translation cytoplasm nucleotide binding|RNA binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3) 14 AATGTGTTCAGAACAGACAAC 0.368000 7 49 0 0 8.12818e-05 0 0 GRM8 2918 broad.mit.edu 37 7 126410017 126410017 + Missense_Mutation SNP T T C TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:126410017T>C ENST00000339582.2 - 7 2067 c.1259A>G c.(1258-1260)cAc>cGc p.H420R GRM8_ENST00000444921.2_Missense_Mutation_p.H420R|GRM8_ENST00000405249.1_Missense_Mutation_p.H420R|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.H420R O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 420 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) GAGATCTTTGTGCATATTGTG 0.428000 HNSCC(24;0.065) 5 41 0 0 0.00116845 0 0 CER1 9350 broad.mit.edu 37 9 14720113 14720113 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr9:14720113G>A ENST00000380911.3 - 2 823 c.779C>T c.(778-780)tCc>tTc p.S260F NM_005454.2 NP_005445.1 O95813 CER1_HUMAN cerberus 1, DAN family BMP antagonist 260 BMP signaling pathway extracellular space cytokine activity endometrium(2)|large_intestine(3)|lung(6) 11 GBM - Glioblastoma multiforme(50;3.16e-06) TGGGATAAAGGAATCCTGGGA 0.468000 9 47 0 0 0.000673444 0 0 EPHA10 284656 broad.mit.edu 37 1 38227053 38227053 + Missense_Mutation SNP C C A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:38227053C>A ENST00000319637.6 - 3 940 c.874G>T c.(874-876)Ggg>Tgg p.G292W EPHA10_ENST00000373048.4_Intron|EPHA10_ENST00000427468.2_Intron NM_173641.2 NP_775912.2 Q5JZY3 EPHAA_HUMAN EPH receptor A10 0 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) ACTCCCACCCCACGGCCCCCA 0.652000 12 48 2.32078e-09 1.18692e-08 0.000308642 1 0 OR6C74 254783 broad.mit.edu 37 12 55641806 55641806 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr12:55641806C>T ENST00000343870.4 + 1 825 c.735C>T c.(733-735)gtC>gtT p.V245V NM_001005490.1 NP_001005490.1 A6NCV1 O6C74_HUMAN olfactory receptor, family 6, subfamily C, member 74 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 12 ACATGGTGGTCGTGTCCATTT 0.388000 7 98 0 0 0.000157383 0 0 DNAJC5B 85479 broad.mit.edu 37 8 66963846 66963846 + Missense_Mutation SNP G G A rs141686243 TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr8:66963846G>A ENST00000276570.5 + 3 351 c.64G>A c.(64-66)Gaa>Aaa p.E22K DNAJC5B_ENST00000519330.1_3'UTR NM_033105.4 NP_149096.2 Q9UF47 DNJ5B_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 beta 22 J. protein folding membrane heat shock protein binding|unfolded protein binding p.E22K(2) endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3) 20 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) AGCTCTATACGAAATTCTTGG 0.398000 10 72 0 0 0.000442599 0 0 TXNL1 9352 broad.mit.edu 37 18 54293650 54293650 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr18:54293650G>A ENST00000217515.6 - 2 341 c.137C>T c.(136-138)tCt>tTt p.S46F TXNL1_ENST00000590954.1_Missense_Mutation_p.S46F|TXNL1_ENST00000540155.1_5'UTR NM_004786.2 NP_004777.1 O43396 TXNL1_HUMAN thioredoxin-like 1 46 Thioredoxin. cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport cytoplasm electron carrier activity|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211) ATTACTCATAGAACTGAATGC 0.348000 20 135 0 0 0.00047179 0 0 NR2E3 10002 broad.mit.edu 37 15 72105937 72105937 + RNA SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr15:72105937G>A ENST00000398840.2 + 0 1145 Q9Y5X4 NR2E3_HUMAN nuclear receptor subfamily 2, group E, member 3 phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|endometrium(1)|lung(1) 3 GACCCCCACGGAGTTTGCCTG 0.607000 7 33 0 0 8.12818e-05 0 0 RP1L1 94137 broad.mit.edu 37 8 10465906 10465906 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr8:10465906G>A ENST00000382483.3 - 4 5925 c.5702C>T c.(5701-5703)cCa>cTa p.P1901L NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1901 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TTCTGACTCTGGCTGGACCTC 0.597000 9 118 0 0 0.000673444 0 0 ROPN1L 83853 broad.mit.edu 37 5 10461368 10461368 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr5:10461368C>T ENST00000503804.1 + 5 1011 c.490C>T c.(490-492)Ccc>Tcc p.P164S ROPN1L_ENST00000510520.1_3'UTR|ROPN1L_ENST00000274134.4_Missense_Mutation_p.P164S Q96C74 ROP1L_HUMAN rhophilin associated tail protein 1-like 164 ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1) 14 CGCTCGCATCCCCTTCAAGAC 0.567000 13 80 0 0 0.00185496 0 0 CELSR3 1951 broad.mit.edu 37 3 48688421 48688421 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr3:48688421G>A ENST00000544264.1 - 15 6554 c.6274C>T c.(6274-6276)Cac>Tac p.H2092Y CELSR3_ENST00000164024.4_Missense_Mutation_p.H2092Y Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 2092 Laminin EGF-like. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TGCCCGCTGTGGGGTGCACAT 0.657000 6 47 0 0 0.00116845 0 0 ST3GAL3 6487 broad.mit.edu 37 1 44360080 44360080 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:44360080C>T ENST00000262915.3 + 7 712 c.535C>T c.(535-537)Ctg>Ttg p.L179L ST3GAL3_ENST00000372372.2_Silent_p.L148L|ST3GAL3_ENST00000361746.4_Silent_p.L179L|ST3GAL3_ENST00000372374.2_Silent_p.L79L|ST3GAL3_ENST00000372366.1_Silent_p.L109L|ST3GAL3_ENST00000372377.4_Silent_p.L110L|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000361812.4_Silent_p.L125L|ST3GAL3_ENST00000372368.2_Silent_p.L164L|ST3GAL3_ENST00000361392.4_Silent_p.L110L|ST3GAL3_ENST00000361400.4_Silent_p.L94L|ST3GAL3_ENST00000372367.1_Silent_p.L109L|ST3GAL3_ENST00000351035.3_Silent_p.L148L|ST3GAL3_ENST00000347631.2_Silent_p.L125L|ST3GAL3_ENST00000533933.1_Silent_p.L110L|ST3GAL3_ENST00000332628.6_Silent_p.L79L|ST3GAL3_ENST00000372362.2_Silent_p.L110L|ST3GAL3_ENST00000330208.2_Silent_p.L110L|ST3GAL3_ENST00000372365.1_Silent_p.L110L|ST3GAL3_ENST00000372375.2_Silent_p.L164L|ST3GAL3_ENST00000545417.1_Silent_p.L125L|ST3GAL3_ENST00000353126.3_Silent_p.L110L|ST3GAL3_ENST00000372369.1_Silent_p.L110L|ST3GAL3_ENST00000335430.6_Silent_p.L94L|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000531993.1_Silent_p.L94L|ST3GAL3_ENST00000531451.1_Silent_p.L94L|ST3GAL3_ENST00000528371.1_Silent_p.L94L NM_174963.3 NP_777623.2 Q11203 SIAT6_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 3 110 protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane N-acetyllactosaminide alpha-2,3-sialyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1) 19 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0518) ACCCATGTTCCTGGATGACTC 0.507000 24 175 0 0 0.00178596 0 0 TMEM255A 55026 broad.mit.edu 37 X 119438286 119438286 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chrX:119438286G>A ENST00000371369.4 - 2 345 c.119C>T c.(118-120)tCc>tTc p.S40F TMEM255A_ENST00000440464.1_Missense_Mutation_p.S40F|TMEM255A_ENST00000309720.5_Missense_Mutation_p.S40F NM_001104544.1 NP_001098014.1 transmembrane protein 255A AATTAACACGGACACAATAAG 0.443000 12 37 0 0 0.00136819 0 0 ZIM3 114026 broad.mit.edu 37 19 57646475 57646475 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr19:57646475C>T ENST00000269834.1 - 5 1615 c.1230G>A c.(1228-1230)caG>caA p.Q410Q NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 410 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TATGAGTTTTCTGATGGCTAT 0.383000 15 155 0 0 0.000566183 0 0 TBXAS1 6916 broad.mit.edu 37 7 139636089 139636089 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:139636089C>T ENST00000263552.6 + 9 974 c.436C>T c.(436-438)Cct>Tct p.P146S TBXAS1_ENST00000425687.1_Missense_Mutation_p.P78S|TBXAS1_ENST00000414508.2_Missense_Mutation_p.P146S|TBXAS1_ENST00000411653.1_Missense_Mutation_p.P145S|TBXAS1_ENST00000448866.1_Missense_Mutation_p.P145S|TBXAS1_ENST00000436047.2_Missense_Mutation_p.P146S|TBXAS1_ENST00000458722.1_Missense_Mutation_p.P145S|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000416849.2_Missense_Mutation_p.P146S|TBXAS1_ENST00000336425.5_Missense_Mutation_p.P145S NM_001130966.2 NP_001124438.1 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 145 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) TGCTTTCAGTCCTGAAAAGCT 0.483000 27 184 0 0 0.00106085 0 0 ALMS1 7840 broad.mit.edu 37 2 73653612 73653612 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:73653612C>T ENST00000264448.6 + 6 1380 c.1269C>T c.(1267-1269)gtC>gtT p.V423V ALMS1_ENST00000377715.1_Silent_p.V423V|ALMS1_ENST00000409009.1_Silent_p.V381V NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 423 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 AGTCTGACGTCATTACTCTGG 0.403000 28 228 0 0 0.001512 0 0 KIAA2018 205717 broad.mit.edu 37 3 113375292 113375292 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr3:113375292G>A ENST00000316407.4 - 7 5647 c.5237C>T c.(5236-5238)cCc>cTc p.P1746L KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.P1746L NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 1746 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 ATTACTCTGGGGCTGTTGACT 0.428000 15 67 0 0 0.000219431 0 0 PCNXL4 64430 broad.mit.edu 37 14 60591538 60591538 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr14:60591538C>T ENST00000406854.1 + 9 3203 c.2649C>T c.(2647-2649)taC>taT p.Y883Y PCNXL4_ENST00000317623.4_Silent_p.Y649Y|PCNXL4_ENST00000535349.1_Silent_p.Y90Y|PCNXL4_ENST00000406949.1_Silent_p.Y649Y|PCNXL4_ENST00000404681.2_Silent_p.Y883Y pecanex-like 4 (Drosophila) TATTAGGATACCCTGCTGTTG 0.413000 18 145 0 0 0.00074312 0 0 TYROBP 7305 broad.mit.edu 37 19 36395500 36395500 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr19:36395500G>A ENST00000585901.2 - 5 424 c.406C>T c.(406-408)Ctc>Ttc p.L136F TYROBP_ENST00000544690.2_Missense_Mutation_p.L94F|TYROBP_ENST00000424586.3_Missense_Mutation_p.L93F|TYROBP_ENST00000262629.4_Missense_Mutation_p.L105F|TYROBP_ENST00000589517.1_Missense_Mutation_p.L104F O43914 TYOBP_HUMAN TYRO protein tyrosine kinase binding protein 105 axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response integral to plasma membrane|intracellular identical protein binding|receptor signaling protein activity NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1) 8 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGTGTGTTGAGGTCGCTGTAG 0.532000 5 27 0 0 8.12818e-05 0 0 BRINP3 339479 broad.mit.edu 37 1 190067958 190067958 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:190067958C>T ENST00000367462.3 - 8 1722 c.1491G>A c.(1489-1491)atG>atA p.M497I FAM5C_ENST00000534846.1_Missense_Mutation_p.M395I|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 497 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GCAGATATTTCATCTCGAGAT 0.498000 17 139 0 0 0.00121646 0 0 OR2A2 442361 broad.mit.edu 37 7 143807353 143807353 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:143807353G>A ENST00000408979.2 + 1 747 c.678G>A c.(676-678)aaG>aaA p.K226K NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) CCATCCTGAAGATCCAGACAA 0.507000 11 83 0 0 0.000673444 0 0 OR5AK2 390181 broad.mit.edu 37 11 56756415 56756415 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:56756415C>T ENST00000326855.2 + 1 69 c.27C>T c.(25-27)gtC>gtT p.V9V NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 GCACTGAAGTCACTGAATTCT 0.403000 24 136 0 0 0.000720815 0 0 PCDH18 54510 broad.mit.edu 37 4 138452705 138452705 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr4:138452705C>T ENST00000344876.4 - 1 924 c.538G>A c.(538-540)Gat>Aat p.D180N PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.D180N|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_5'UTR NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 180 Cadherin 2. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TTAAAAAAATCATTGGCAGAG 0.483000 9 54 0 0 0.000274275 0 0 PLA2G5 5322 broad.mit.edu 37 1 20417110 20417110 + Silent SNP C C T rs144012929 TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:20417110C>T ENST00000375108.3 + 5 610 c.342C>T c.(340-342)ctC>ctT p.L114L PLA2G5_ENST00000486277.1_3'UTR NM_000929.2 NP_000920.1 P39877 PA2G5_HUMAN phospholipase A2, group V 114 lipid catabolic process extracellular region calcium ion binding|calcium-dependent phospholipase A2 activity p.L114L(1) NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652) ACCGGAAGCTCGTCTACTGCC 0.567000 7 78 0 0 8.12818e-05 0 0 ZNF585B 92285 broad.mit.edu 37 19 37677377 37677377 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr19:37677377G>A ENST00000532828.2 - 5 1313 c.1062C>T c.(1060-1062)tcC>tcT p.S354S ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Silent_p.S299S|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 354 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CAGTACATATGGAAGATTTCT 0.403000 12 105 0 0 0.00136819 0 0 PHLDB1 23187 broad.mit.edu 37 11 118498078 118498078 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:118498078C>T ENST00000361417.2 + 7 950 c.539C>T c.(538-540)cCc>cTc p.P180L PHLDB1_ENST00000356063.5_Missense_Mutation_p.P180L NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 180 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) ACACGGGGACCCTCTGCCTGT 0.542000 8 42 0 0 0.000274275 0 0 ZNFX1 57169 broad.mit.edu 37 20 47870326 47870326 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr20:47870326G>A ENST00000396105.1 - 11 3228 c.2982C>T c.(2980-2982)atC>atT p.I994I ZNFX1_ENST00000371754.4_Silent_p.I994I|ZNFX1_ENST00000371752.1_Silent_p.I994I NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 994 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CCTTCTGTAGGATCTGGCGGT 0.557000 14 194 0 0 0.00152264 0 0 KLKB1 3818 broad.mit.edu 37 4 187178420 187178420 + Missense_Mutation SNP G G T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr4:187178420G>T ENST00000264690.6 + 14 1813 c.1626G>T c.(1624-1626)ttG>ttT p.L542F KLKB1_ENST00000513864.1_Intron NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 542 Peptidase S1. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) ATATTCCTTTGGTAACAAATG 0.318000 6 125 3.59834e-05 0.000182984 0.00116845 1 0 HIST2H2BA 337875 broad.mit.edu 37 1 120906358 120906358 + RNA SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:120906358G>A ENST00000430394.1 + 0 331 NR_027337.1 GCTGCCCGGCGAGCTGGCCAA 0.637000 6 29 0 0 8.12818e-05 0 0 MST1R 4486 broad.mit.edu 37 3 49940718 49940718 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr3:49940718G>A ENST00000296474.3 - 1 352 c.325C>T c.(325-327)Cca>Tca p.P109S CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.P109S NM_002447.2 NP_002438.2 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 109 Sema. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) TGGGGTCCTGGGCCACAGGCT 0.677000 7 43 0 0 8.12818e-05 0 0 SREBF2 6721 broad.mit.edu 37 22 42271552 42271552 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr22:42271552C>T ENST00000361204.4 + 7 1376 c.1210C>T c.(1210-1212)Cta>Tta p.L404L NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 404 Interaction with LMNA (By similarity). cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 TGCAGAGCTTCTAAAGGGCAT 0.507000 30 160 0 0 0.000339439 0 0 GPR152 390212 broad.mit.edu 37 11 67219361 67219361 + Missense_Mutation SNP A A G TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:67219361A>G ENST00000312457.2 - 1 839 c.835T>C c.(835-837)Tac>Cac p.Y279H NM_206997.1 NP_996880.1 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 279 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) TAGTCGGAGTAGACCAGGGCC 0.637000 9 46 0 0 0.000274275 0 0 BRD8 10902 broad.mit.edu 37 5 137501622 137501622 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr5:137501622C>T ENST00000254900.5 - 11 1544 c.1173G>A c.(1171-1173)aaG>aaA p.K391K BRD8_ENST00000455658.2_Silent_p.K350K|BRD8_ENST00000402931.1_Silent_p.K391K|BRD8_ENST00000411594.2_Silent_p.K394K|BRD8_ENST00000230901.5_Silent_p.K464K NM_139199.1 NP_631938.1 Q9H0E9 BRD8_HUMAN bromodomain containing 8 391 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CTAATTCTTCCTTCCCATCTA 0.438000 8 72 0 0 0.000157383 0 0 ADAP2 55803 broad.mit.edu 37 17 29276364 29276364 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr17:29276364C>T ENST00000330889.3 + 7 1052 c.717C>T c.(715-717)gcC>gcT p.A239A ADAP2_ENST00000580525.1_Silent_p.A245A NM_018404.2 NP_060874.1 Q9NPF8 ADAP2_HUMAN ArfGAP with dual PH domains 2 239 heart development|regulation of ARF GTPase activity mitochondrial envelope|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding p.?(1) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 TAAAAATGGCCTTTCCTGAAC 0.527000 5 71 0 0 0.00116845 0 0 VWA8 23078 broad.mit.edu 37 13 42142384 42142384 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr13:42142384G>A ENST00000379310.3 - 45 5735 c.5667C>T c.(5665-5667)atC>atT p.I1889I NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 AAATCTGAGGGATATCCTTGG 0.468000 11 75 0 0 0.000673444 0 0 ZNF804B 219578 broad.mit.edu 37 7 88956692 88956692 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:88956692G>A ENST00000333190.4 + 3 893 c.284G>A c.(283-285)cGa>cAa p.R95Q NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 95 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) GAATTTGCTCGAAATGTAGCT 0.338000 HNSCC(36;0.09) 9 40 0 0 0.000274275 0 0 TTN 7273 broad.mit.edu 37 2 179654155 179654155 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:179654155C>T ENST00000589042.1 - 13 2232 c.2008G>A c.(2008-2010)Gaa>Aaa p.E670K TTN_ENST00000460472.2_Missense_Mutation_p.E624K|TTN_ENST00000342175.6_Missense_Mutation_p.E624K|TTN_ENST00000591111.1_Missense_Mutation_p.E670K|TTN_ENST00000359218.5_Missense_Mutation_p.E624K|TTN_ENST00000360870.5_Missense_Mutation_p.E670K|TTN_ENST00000342992.6_Missense_Mutation_p.E670K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 670 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) AGTATTGTTTCTTGTTCTTTG 0.378000 10 82 0 0 0.000442599 0 0 ST3GAL3 6487 broad.mit.edu 37 1 44360079 44360079 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:44360079C>T ENST00000262915.3 + 7 711 c.534C>T c.(532-534)ttC>ttT p.F178F ST3GAL3_ENST00000372372.2_Silent_p.F147F|ST3GAL3_ENST00000361746.4_Silent_p.F178F|ST3GAL3_ENST00000372374.2_Silent_p.F78F|ST3GAL3_ENST00000372366.1_Silent_p.F108F|ST3GAL3_ENST00000372377.4_Silent_p.F109F|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000361812.4_Silent_p.F124F|ST3GAL3_ENST00000372368.2_Silent_p.F163F|ST3GAL3_ENST00000361392.4_Silent_p.F109F|ST3GAL3_ENST00000361400.4_Silent_p.F93F|ST3GAL3_ENST00000372367.1_Silent_p.F108F|ST3GAL3_ENST00000351035.3_Silent_p.F147F|ST3GAL3_ENST00000347631.2_Silent_p.F124F|ST3GAL3_ENST00000533933.1_Silent_p.F109F|ST3GAL3_ENST00000332628.6_Silent_p.F78F|ST3GAL3_ENST00000372362.2_Silent_p.F109F|ST3GAL3_ENST00000330208.2_Silent_p.F109F|ST3GAL3_ENST00000372365.1_Silent_p.F109F|ST3GAL3_ENST00000372375.2_Silent_p.F163F|ST3GAL3_ENST00000545417.1_Silent_p.F124F|ST3GAL3_ENST00000353126.3_Silent_p.F109F|ST3GAL3_ENST00000372369.1_Silent_p.F109F|ST3GAL3_ENST00000335430.6_Silent_p.F93F|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000531993.1_Silent_p.F93F|ST3GAL3_ENST00000531451.1_Silent_p.F93F|ST3GAL3_ENST00000528371.1_Silent_p.F93F NM_174963.3 NP_777623.2 Q11203 SIAT6_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 3 109 protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane N-acetyllactosaminide alpha-2,3-sialyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1) 19 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0518) CACCCATGTTCCTGGATGACT 0.507000 24 175 0 0 0.00178596 0 0 CEP164 22897 broad.mit.edu 37 11 117261579 117261579 + Missense_Mutation SNP G G A rs142184414 byFrequency TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:117261579G>A ENST00000278935.3 + 16 2168 c.2021G>A c.(2020-2022)cGa>cAa p.R674Q CEP164_ENST00000533706.1_3'UTR NM_014956.4 NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 674 Glu-rich. cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) TCCTGGCTCCGAGCTCAGGTC 0.597000 7 54 0 0 8.12818e-05 0 0 FCF1 51077 broad.mit.edu 37 14 75200829 75200829 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr14:75200829C>T ENST00000341162.4 + 7 558 c.504C>T c.(502-504)atC>atT p.I168I FCF1_ENST00000553615.1_Silent_p.I153I|FCF1_ENST00000534938.2_Silent_p.I156I NM_015962.4 NP_057046.1 Q9Y324 FCF1_HUMAN FCF1 rRNA-processing protein 168 rRNA processing nucleolus breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(234;0.0037) AAAGAAGAATCCGTAAGATTC 0.398000 5 47 0 0 0.000602214 0 0 STRC 161497 broad.mit.edu 37 15 43893725 43893725 + Missense_Mutation SNP G G A rs147990592 TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr15:43893725G>A ENST00000450892.2 - 24 4647 c.4570C>T c.(4570-4572)Cgt>Tgt p.R1524C STRC_ENST00000541030.1_Missense_Mutation_p.R751C NM_153700.2 NP_714544.1 Q7RTU9 STRC_HUMAN stereocilin 1524 sensory perception of sound cell surface p.R1524G(1) skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) TGCTCAGGACGAAATCCCCGG 0.532000 7 26 0 0 0.000274275 0 0 RTN1 6252 broad.mit.edu 37 14 60074019 60074019 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr14:60074019C>T ENST00000267484.5 - 4 2292 c.1957G>A c.(1957-1959)Gaa>Aaa p.E653K RTN1_ENST00000342503.4_Missense_Mutation_p.E85K|RTN1_ENST00000395090.1_Missense_Mutation_p.E70K|RTN1_ENST00000557422.1_5'UTR NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 653 Reticulon. neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) GGGTGGCCTTCGTCGGTTTTC 0.562000 5 23 0 0 0.00116845 0 0 PTPN21 11099 broad.mit.edu 37 14 88962767 88962767 + Nonsense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr14:88962767G>A ENST00000556564.1 - 10 1206 c.922C>T c.(922-924)Cag>Tag p.Q308* PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Nonsense_Mutation_p.Q308* NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 308 FERM. cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 AGGTTACACTGGTTTAGTCTG 0.333000 10 68 0 0 0.000673444 0 0 NOSTRIN 115677 broad.mit.edu 37 2 169684702 169684702 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:169684702G>A ENST00000444448.2 + 6 708 c.232G>A c.(232-234)Gga>Aga p.G78R NOSTRIN_ENST00000397209.2_Missense_Mutation_p.G50R|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.G78R|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.G50R|NOSTRIN_ENST00000397206.2_5'UTR|NOSTRIN_ENST00000445023.2_5'UTR|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.G78R Q8IVI9 NOSTN_HUMAN nitric oxide synthase trafficking 78 endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane protein binding kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 9 GGCCTCAGAGGGAATGAAATC 0.473000 6 65 0 0 8.12818e-05 0 0 EFEMP1 2202 broad.mit.edu 37 2 56098169 56098169 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:56098169G>A ENST00000394555.2 - 9 1525 c.1090C>T c.(1090-1092)Cct>Tct p.P364S EFEMP1_ENST00000394554.1_Missense_Mutation_p.P364S|EFEMP1_ENST00000355426.3_Missense_Mutation_p.P364S|EFEMP1_ENST00000424836.2_Missense_Mutation_p.P226S NM_001039348.2|NM_001039349.2 NP_001034437.1|NP_001034438.1 Q12805 FBLN3_HUMAN EGF containing fibulin-like extracellular matrix protein 1 364 EGF-like 6; calcium-binding (Potential).|Mediates interaction with TIMP3. negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity p.P364S(1) NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TCTTGACAAGGATTTCGTGGA 0.403000 6 55 0 0 0.00116845 0 0 FAM183B 340286 broad.mit.edu 37 7 38725506 38725506 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:38725506G>A ENST00000409072.3 - 2 1034 c.100C>T c.(100-102)Cac>Tac p.H34Y family with sequence similarity 183, member B endometrium(1)|lung(7) 8 TACTGCGTGTGGAGTTTCTGG 0.537000 5 54 0 0 0.00116845 0 0 BAZ2B 29994 broad.mit.edu 37 2 160294890 160294890 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:160294890G>A ENST00000392783.2 - 8 1712 c.1217C>T c.(1216-1218)cCt>cTt p.P406L BAZ2B_ENST00000392782.1_Missense_Mutation_p.P404L|BAZ2B_ENST00000355831.2_Missense_Mutation_p.P406L|BAZ2B_ENST00000343439.5_Missense_Mutation_p.P404L NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 406 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 AAGAACATCAGGAGAAGGAAC 0.348000 7 47 0 0 8.12818e-05 0 0 PIWIL1 9271 broad.mit.edu 37 12 130847340 130847340 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr12:130847340G>A ENST00000245255.3 + 17 2272 c.2000G>A c.(1999-2001)aGa>aAa p.R667K NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 667 Piwi.|RNA-binding (By similarity). gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) TTTCAGGATAGAGGACAGGAG 0.423000 9 50 0 0 0.000274275 0 0 DDHD2 23259 broad.mit.edu 37 8 38107265 38107265 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr8:38107265C>T ENST00000397166.2 + 11 1813 c.1288C>T c.(1288-1290)Cct>Tct p.P430S DDHD2_ENST00000520272.2_Missense_Mutation_p.P430S|DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000517385.1_Missense_Mutation_p.P49S NM_015214.2 NP_056029.2 O94830 DDHD2_HUMAN DDHD domain containing 2 430 SAM. lipid catabolic process centrosome hydrolase activity|metal ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2) 28 Colorectal(12;0.000442) all_lung(54;0.0657)|Lung NSC(58;0.175) BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977) AATAGGAATTCCTTTAGGACC 0.348000 6 35 0 0 0.00116845 0 0 CRISPLD1 83690 broad.mit.edu 37 8 75928806 75928806 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr8:75928806C>T ENST00000262207.4 + 7 1202 c.734C>T c.(733-735)tCa>tTa p.S245L CRISPLD1_ENST00000523524.1_Missense_Mutation_p.S57L|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.S59L NM_031461.5 NP_113649.1 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain containing 1 245 extracellular region biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) ACAGAAGGGTCAGACAGGTAT 0.358000 18 89 0 0 0.00074312 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146471374 146471374 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:146471374G>A ENST00000361727.3 + 2 625 c.109G>A c.(109-111)Gag>Aag p.E37K NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 37 F5/8 type C. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AAAATGTGATGAGCCACTTGT 0.443000 HNSCC(39;0.1) 10 28 0 0 0.00185496 0 0 C18orf25 147339 broad.mit.edu 37 18 43843018 43843018 + Silent SNP T T A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr18:43843018T>A ENST00000282059.6 + 5 1523 c.1149T>A c.(1147-1149)gcT>gcA p.A383A C18orf25_ENST00000321319.6_Silent_p.A322A NM_145055.3 NP_659492.1 Q96B23 CR025_HUMAN chromosome 18 open reading frame 25 383 central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1) 11 AGACTTGGGCTTCACCAGCAG 0.493000 5 36 0 0 0.000602214 0 0 DGKB 1607 broad.mit.edu 37 7 14661117 14661117 + Missense_Mutation SNP T T A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:14661117T>A ENST00000403951.2 - 15 1592 c.1173A>T c.(1171-1173)gaA>gaT p.E391D DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Missense_Mutation_p.E383D|DGKB_ENST00000402815.1_Missense_Mutation_p.E390D|DGKB_ENST00000406247.3_Missense_Mutation_p.E391D|DGKB_ENST00000258767.5_Missense_Mutation_p.E391D|DGKB_ENST00000399322.3_Missense_Mutation_p.E391D|DGKB_ENST00000444700.2_Missense_Mutation_p.E372D Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 391 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) TTGATTGTCTTTCCTGTAAAA 0.289000 8 16 0 0 0.000274275 0 0 HAO2 51179 broad.mit.edu 37 1 119927555 119927555 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:119927555C>T ENST00000361035.4 + 5 762 c.479C>T c.(478-480)tCc>tTc p.S160F HAO2_ENST00000325945.3_Missense_Mutation_p.S147F NM_001005783.1 NP_001005783.1 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 147 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) AGGGTAGAATCCCTAGGTTTC 0.463000 14 78 0 0 0.000422831 0 0 CDH23 64072 broad.mit.edu 37 10 73406389 73406389 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr10:73406389C>T ENST00000398809.4 + 14 1854 c.1464C>T c.(1462-1464)ttC>ttT p.F488F CDH23_ENST00000299366.7_Intron|CDH23_ENST00000461841.3_Silent_p.F533F|CDH23_ENST00000398842.3_Silent_p.F488F|CDH23_ENST00000224721.6_Intron NM_052836.3 NP_443068.1 Q9H251 CAD23_HUMAN cadherin-related 23 0 Cadherin 5. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GTCCCCGCTTCACTGCAGGGC 0.602000 7 63 0 0 0.000442599 0 0 PPM1E 22843 broad.mit.edu 37 17 57043082 57043082 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr17:57043082C>T ENST00000308249.2 + 3 740 c.611C>T c.(610-612)tCt>tTt p.S204F NM_014906.4 NP_055721.3 Q8WY54 PPM1E_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1E 213 protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) TTGGCCCGTTCTGTCTTCAGC 0.463000 39 218 0 0 0.000437636 0 0 C2orf16 84226 broad.mit.edu 37 2 27800558 27800558 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:27800558G>A ENST00000408964.2 + 1 1170 c.1119G>A c.(1117-1119)gaG>gaA p.E373E NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 373 p.E373D(1) breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) TGCAGGTAGAGAAAACTTTGC 0.463000 8 43 0 0 0.000274275 0 0 CNGB3 54714 broad.mit.edu 37 8 87666270 87666270 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr8:87666270C>T ENST00000320005.5 - 7 920 c.873G>A c.(871-873)agG>agA p.R291R NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 291 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 TGTAGTGTTTCCTTAGCTCAT 0.289000 7 59 0 0 8.12818e-05 0 0 LOC101929006 101929006 broad.mit.edu 37 6 29230729 29230729 + RNA SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:29230729G>A ENST00000441381.1 + 0 79 GTGATGCAAGGAAAATGAAAA 0.398000 9 37 0 0 0.000274275 0 0 ZNF2 7549 broad.mit.edu 37 2 95845936 95845936 + Nonsense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:95845936C>T ENST00000398107.2 + 3 589 c.67C>T c.(67-69)Caa>Taa p.Q23* ZNF2_ENST00000340539.5_Nonsense_Mutation_p.Q65*|ZNF2_ENST00000453539.2_Nonsense_Mutation_p.Q65*|ZNF2_ENST00000295210.6_Intron|ZNF2_ENST00000425369.1_Intron NM_001017396.1 NP_001017396.1 Q9BSG1 ZNF2_HUMAN zinc finger protein 2 65 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 12 Ovarian(717;0.00768) READ - Rectum adenocarcinoma(193;0.0222) TGTGATTTTCCAATTGAAGAG 0.463000 13 96 0 0 0.000219431 0 0 AXDND1 126859 broad.mit.edu 37 1 179462017 179462017 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:179462017G>A ENST00000367618.3 + 20 2706 c.2319G>A c.(2317-2319)atG>atA p.M773I NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 773 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 TAACAGCAATGGCTCTGAGTA 0.373000 10 55 0 0 0.000673444 0 0 EYA2 2139 broad.mit.edu 37 20 45644851 45644851 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr20:45644851C>T ENST00000327619.5 + 5 704 c.330C>T c.(328-330)tcC>tcT p.S110S EYA2_ENST00000317304.6_Silent_p.S110S|EYA2_ENST00000357410.3_Silent_p.S110S NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 110 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) TGAACCATTCCCCTGGCCAGA 0.532000 14 117 0 0 0.000308642 0 0 OR10A5 144124 broad.mit.edu 37 11 6867192 6867192 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:6867192C>T ENST00000299454.4 + 1 310 c.279C>T c.(277-279)atC>atT p.I93I OR10A5_ENST00000379831.2_Silent_p.I97I Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ACACAACCATCTCCTTCCTTG 0.493000 8 64 0 0 0.000442599 0 0 CENPJ 55835 broad.mit.edu 37 13 25484108 25484108 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr13:25484108C>T ENST00000381884.4 - 4 870 c.685G>A c.(685-687)Gaa>Aaa p.E229K CENPJ_ENST00000545981.1_Missense_Mutation_p.E229K NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 229 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) TATGTTTCTTCCTGGGTTGGG 0.473000 19 104 0 0 0.00121646 0 0 NPAS4 266743 broad.mit.edu 37 11 66191943 66191943 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:66191943C>T ENST00000311034.2 + 7 1758 c.1582C>T c.(1582-1584)Cat>Tat p.H528Y NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 528 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CAGCCCTGCCCATGAACAGCT 0.592000 13 134 0 0 0.000219431 0 0 DNAH5 1767 broad.mit.edu 37 5 13762921 13762921 + Silent SNP T T C TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr5:13762921T>C ENST00000265104.4 - 60 10295 c.10191A>G c.(10189-10191)aaA>aaG p.K3397K DNAH5_ENST00000504001.3_5'UTR NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3397 Stalk (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) CACATACGCGTTTAGCAGTTT 0.398000 Kartagener syndrome 5 73 0 0 8.12818e-05 0 0 IGHV1OR15-9 390531 broad.mit.edu 37 15 20170215 20170215 + RNA SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr15:20170215G>A ENST00000338912.5 - 0 56 GCTGTACCTGGGACTGGGCAC 0.557000 12 36 0 0 0.00185496 0 0 SNHG14 104472715 broad.mit.edu 37 15 25296640 25296640 + RNA SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr15:25296640C>T ENST00000549804.2 + 0 98 SNHG14_ENST00000552781.1_RNA|SNHG14_ENST00000547292.1_RNA|SNORD116-1_ENST00000384335.1_RNA ATGATGAGTCCCCTATAAAAA 0.473000 6 67 0 0 0.000157383 0 0 GHSR 2693 broad.mit.edu 37 3 172165933 172165933 + Missense_Mutation SNP G G A rs79053943 byFrequency TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr3:172165933G>A ENST00000241256.2 - 1 313 c.271C>T c.(271-273)Ctc>Ttc p.L91F GHSR_ENST00000427970.1_Missense_Mutation_p.L91F NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 91 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) AGGAAGATGAGCAGATCGGAG 0.607000 5 31 0 0 8.12818e-05 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 5 49 0 0 0.000602214 0 0 ABCA9 10350 broad.mit.edu 37 17 66981228 66981228 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr17:66981228G>A ENST00000340001.4 - 33 4461 c.4250C>T c.(4249-4251)cCc>cTc p.P1417L ABCA9_ENST00000453985.2_Missense_Mutation_p.P1379L|ABCA9_ENST00000370732.2_Missense_Mutation_p.P1417L NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 1417 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) GGTCTTCACGGGAGCCTTCAG 0.527000 5 62 0 0 0.000602214 0 0 FHOD3 80206 broad.mit.edu 37 18 33952695 33952695 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr18:33952695C>T ENST00000257209.4 + 3 447 c.325C>T c.(325-327)Cat>Tat p.H109Y FHOD3_ENST00000590592.1_Missense_Mutation_p.H109Y|FHOD3_ENST00000359247.4_Missense_Mutation_p.H109Y|FHOD3_ENST00000445677.1_Missense_Mutation_p.H109Y NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 109 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) TGTGAGGGTCCATGCCTGCAT 0.498000 4 16 0 0 0.00116845 0 0 KCNH2 3757 broad.mit.edu 37 7 150648860 150648860 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:150648860G>A ENST00000392968.2 - 5 2453 c.1333C>T c.(1333-1335)Cgc>Tgc p.R445C KCNH2_ENST00000430723.3_Missense_Mutation_p.R541C|KCNH2_ENST00000262186.5_Missense_Mutation_p.R541C|KCNH2_ENST00000330883.4_Missense_Mutation_p.R201C Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 541 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) TCTGAGTAGCGATCCAGCTTC 0.642000 4 23 0 0 0.00024832 0 0 PENK 5179 broad.mit.edu 37 8 57354177 57354177 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr8:57354177G>A ENST00000314922.3 - 2 534 c.458C>T c.(457-459)tCc>tTc p.S153F PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.S153F NM_006211.3 NP_006202.1 P01210 PENK_HUMAN proenkephalin 153 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity p.S153C(1) central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) CAGGTCTGAGGAATTGGCCAG 0.527000 19 76 0 0 0.00074312 0 0 ECE1 1889 broad.mit.edu 37 1 21551766 21551766 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:21551766C>T ENST00000415912.2 - 17 2094 c.1969G>A c.(1969-1971)Ggg>Agg p.G657R ECE1_ENST00000436918.2_Missense_Mutation_p.G673R|ECE1_ENST00000357071.4_Missense_Mutation_p.G661R|ECE1_ENST00000264205.6_Missense_Mutation_p.G670R|ECE1_ENST00000374893.6_Missense_Mutation_p.G673R NM_001113348.1 NP_001106819.1 P42892 ECE1_HUMAN endothelin converting enzyme 1 673 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) TTGAGACCCCCGTTGTCGGCG 0.647000 5 49 0 0 0.00116845 0 0 PPP1R16A 84988 broad.mit.edu 37 8 145722800 145722800 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr8:145722800C>T ENST00000292539.4 + 2 1140 c.223C>T c.(223-225)Ctt>Ttt p.L75F CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.L75F Q96I34 PP16A_HUMAN protein phosphatase 1, regulatory subunit 16A 75 plasma membrane protein binding NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1) 8 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CAGTGTTGTCCTTCTGGAGGC 0.657000 7 22 0 0 0.000157383 0 0 SLC6A4 6532 broad.mit.edu 37 17 28537552 28537552 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr17:28537552G>A ENST00000401766.2 - 10 1942 c.1430C>T c.(1429-1431)tCc>tTc p.S477F SLC6A4_ENST00000261707.3_Missense_Mutation_p.S477F P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 477 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) GGTGACCAGGGATCCAAAGAA 0.592000 8 47 0 0 0.000157383 0 0 SERPINF2 5345 broad.mit.edu 37 17 1657539 1657539 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr17:1657539C>T ENST00000324015.3 + 10 1264 c.1187C>T c.(1186-1188)gCc>gTc p.A396V SERPINF2_ENST00000382061.4_Missense_Mutation_p.A396V|SERPINF2_ENST00000450523.2_Missense_Mutation_p.A332V NM_000934.3 NP_000925.2 P08697 A2AP_HUMAN serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 396 acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) Streptokinase(DB00086) GCGGCGGCGGCCACCAGCATT 0.652000 15 95 0 0 0.000308642 0 0 ZDHHC13 54503 broad.mit.edu 37 11 19187864 19187864 + Missense_Mutation SNP A A G TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:19187864A>G ENST00000446113.2 + 14 1527 c.1406A>G c.(1405-1407)cAc>cGc p.H469R ZDHHC13_ENST00000399351.3_Missense_Mutation_p.H339R NM_019028.2 NP_061901.2 Q8IUH4 ZDH13_HUMAN zinc finger, DHHC-type containing 13 469 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 GGCAACCATCACTATTACATA 0.313000 5 34 0 0 0.000602214 0 0 PPP4R1 9989 broad.mit.edu 37 18 9557296 9557296 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr18:9557296G>A ENST00000400556.3 - 15 2186 c.2113C>T c.(2113-2115)Cca>Tca p.P705S PPP4R1_ENST00000400555.3_Missense_Mutation_p.P688S NM_001042388.2 NP_001035847.1 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 705 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity large_intestine(1)|skin(2) 3 TTAAAAATTGGAACCAGATCT 0.368000 26 229 0 0 0.00178596 0 0 SCN11A 11280 broad.mit.edu 37 3 38936347 38936347 + Nonsense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr3:38936347G>A ENST00000450244.1 - 15 2710 c.2512C>T c.(2512-2514)Cga>Tga p.R838* SCN11A_ENST00000456224.3_Nonsense_Mutation_p.R838*|SCN11A_ENST00000302328.3_Nonsense_Mutation_p.R838*|SCN11A_ENST00000444237.2_Nonsense_Mutation_p.R838* Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 838 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CGGCGGAATCGATCCAGTGCT 0.453000 10 61 0 0 0.000442599 0 0 CREBBP 1387 broad.mit.edu 37 16 3823810 3823810 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr16:3823810G>A ENST00000262367.5 - 13 3214 c.2405C>T c.(2404-2406)tCc>tTc p.S802F CREBBP_ENST00000382070.3_Missense_Mutation_p.S764F NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 802 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CGCCCCGCTGGATGACGGGAA 0.607000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 7 58 0 0 0.000157383 0 0 PDE10A 10846 broad.mit.edu 37 6 165792793 165792793 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:165792793G>A ENST00000366882.1 - 19 1999 c.1845C>T c.(1843-1845)atC>atT p.I615I PDE10A_ENST00000539869.2_Silent_p.I625I|PDE10A_ENST00000354448.4_Silent_p.I615I Q9Y233 PDE10_HUMAN phosphodiesterase 10A 615 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) CTTTGCGGATGATCTCAAGCA 0.418000 7 72 0 0 0.000442599 0 0 OR4K5 79317 broad.mit.edu 37 14 20388883 20388883 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr14:20388883C>T ENST00000315915.4 + 1 143 c.118C>T c.(118-120)Ctg>Ttg p.L40L NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGTCATTGTGCTGGGAAATCT 0.403000 15 113 0 0 0.000422831 0 0 ZNF229 7772 broad.mit.edu 37 19 44934623 44934623 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr19:44934623C>T ENST00000291187.4 - 6 637 c.315G>A c.(313-315)gaG>gaA p.E105E CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Silent_p.E111E|ZNF229_ENST00000591289.1_Intron NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 111 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) CACCTGCCACCTCTTCCCAGA 0.443000 7 48 0 0 8.12818e-05 0 0 FOXN2 3344 broad.mit.edu 37 2 48586237 48586237 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:48586237C>T ENST00000340553.3 + 4 850 c.589C>T c.(589-591)Ctt>Ttt p.L197F NM_002158.3 NP_002149.2 P32314 FOXN2_HUMAN forkhead box N2 197 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 13 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036) TAAACCCAATCTTATCCAGGC 0.353000 5 63 0 0 0.000602214 0 0 MED13 9969 broad.mit.edu 37 17 60060354 60060354 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr17:60060354G>A ENST00000397786.2 - 16 3086 c.3010C>T c.(3010-3012)Cca>Tca p.P1004S NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1004 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 GGGGTGGATGGAGAAGGAAGA 0.507000 6 37 0 0 0.000157383 0 0 LCT 3938 broad.mit.edu 37 2 136566908 136566908 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:136566908C>T ENST00000264162.2 - 8 3019 c.3009G>A c.(3007-3009)ctG>ctA p.L1003L NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1003 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) AGCCATTGATCAGCCTGTTGT 0.517000 5 44 0 0 0.000602214 0 0 MYLK 4638 broad.mit.edu 37 3 123419615 123419615 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr3:123419615G>A ENST00000360772.3 - 19 3078 c.2700C>T c.(2698-2700)ctC>ctT p.L900L MYLK_ENST00000475616.1_Silent_p.L900L|MYLK_ENST00000346322.5_Silent_p.L831L|MYLK_ENST00000360304.3_Silent_p.L900L|MYLK_ENST00000359169.1_Silent_p.L900L Q15746 MYLK_HUMAN myosin light chain kinase 900 5 X 28 AA approximate tandem repeats. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TCTTCCCCAGGAGGTCTCGGA 0.612000 5 48 0 0 0.000602214 0 0 TNIK 23043 broad.mit.edu 37 3 170786639 170786639 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr3:170786639G>A ENST00000436636.2 - 30 4041 c.3697C>T c.(3697-3699)Cat>Tat p.H1233Y TNIK_ENST00000488470.1_Missense_Mutation_p.H1178Y|TNIK_ENST00000460047.1_Missense_Mutation_p.H1170Y|TNIK_ENST00000369326.5_Missense_Mutation_p.H1211Y|TNIK_ENST00000357327.5_Missense_Mutation_p.H1204Y|TNIK_ENST00000284483.8_Missense_Mutation_p.H1225Y|TNIK_ENST00000341852.6_Missense_Mutation_p.H1149Y|TNIK_ENST00000470834.1_Missense_Mutation_p.H1196Y|TNIK_ENST00000538048.1_Missense_Mutation_p.H1185Y|TNIK_ENST00000475336.1_Missense_Mutation_p.H1141Y NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 1233 CNH. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GTACTTACATGAGATGGTATG 0.363000 7 39 0 0 0.000157383 0 0 NUP210L 91181 broad.mit.edu 37 1 153998161 153998161 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:153998161G>A ENST00000368559.3 - 30 4050 c.3979C>T c.(3979-3981)Ctc>Ttc p.L1327F NUP210L_ENST00000368553.1_Missense_Mutation_p.L260F|NUP210L_ENST00000271854.3_Missense_Mutation_p.L1327F NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 1327 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) AAACACTTGAGAACACGAGAA 0.468000 22 191 0 0 0.000295444 0 0 ADCK2 90956 broad.mit.edu 37 7 140373513 140373513 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:140373513C>T ENST00000072869.4 + 1 561 c.383C>T c.(382-384)aCc>aTc p.T128I ADCK2_ENST00000476491.1_Missense_Mutation_p.T128I NM_052853.3 NP_443085.2 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 128 integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) AGCGTCTCCACCCTCTGGCTC 0.627000 6 82 0 0 8.12818e-05 0 0 DBN1 1627 broad.mit.edu 37 5 176886132 176886132 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr5:176886132G>A ENST00000292385.5 - 12 1708 c.1099C>T c.(1099-1101)Cca>Tca p.P367S DBN1_ENST00000393563.4_Missense_Mutation_p.P97S|DBN1_ENST00000393565.1_Missense_Mutation_p.P411S|DBN1_ENST00000309007.5_Missense_Mutation_p.P365S|DBN1_ENST00000512501.1_Missense_Mutation_p.P97S NM_080881.2 NP_543157.1 Q16643 DREB_HUMAN drebrin 1 365 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) GGCAGTGGTGGAGGCTGCGAG 0.677000 10 70 0 0 0.000978159 0 0 KAT8 84148 broad.mit.edu 37 16 31141818 31141818 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr16:31141818G>A ENST00000543774.2 + 10 1383 c.1048G>A c.(1048-1050)Gag>Aag p.E350K KAT8_ENST00000448516.2_Missense_Mutation_p.E350K|KAT8_ENST00000219797.4_Missense_Mutation_p.E350K Q9H7Z6 MYST1_HUMAN K(lysine) acetyltransferase 8 350 histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex|MSL complex histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding CGGCTCCCCGGAGAAGCCACT 0.607000 6 22 0 0 8.12818e-05 0 0 ST18 9705 broad.mit.edu 37 8 53092745 53092745 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr8:53092745C>T ENST00000276480.7 - 9 897 c.214G>A c.(214-216)Gaa>Aaa p.E72K NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 72 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CTGCGGTCTTCTTGGCAGTCT 0.532000 18 150 0 0 0.000958276 0 0 SLCO1B7 338821 broad.mit.edu 37 12 21172247 21172247 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr12:21172247G>A ENST00000421593.2 + 2 151 c.151G>A c.(151-153)Gga>Aga p.G51R LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Intron NM_001009562.4 NP_001009562.3 solute carrier organic anion transporter family, member 1B7 (non-functional) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 GAAGTTAATTGGAATTGGTTG 0.328000 10 44 0 0 0.000442599 0 0 KCNE1 3753 broad.mit.edu 37 21 35821668 35821668 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr21:35821668C>T ENST00000337385.3 - 3 640 c.265G>A c.(265-267)Gag>Aag p.E89K KCNE1_ENST00000399289.3_Missense_Mutation_p.E89K|KCNE1_ENST00000399284.1_Missense_Mutation_p.E89K|KCNE1_ENST00000432085.1_Missense_Mutation_p.E89K|KCNE1_ENST00000399286.2_Missense_Mutation_p.E89K|KCNE1_ENST00000416357.2_Missense_Mutation_p.E89K NM_001270402.1|NM_001270403.1 NP_001257331.1|NP_001257332.1 P15382 KCNE1_HUMAN potassium voltage-gated channel, Isk-related family, member 1 89 blood circulation|membrane depolarization|muscle contraction|sensory perception of sound lysosome delayed rectifier potassium channel activity|potassium channel regulator activity large_intestine(4)|lung(1)|ovary(2) 7 Indapamide(DB00808) TTGTCCTTCTCTTGCCAGGCA 0.547000 42 370 0 0 0.00148497 0 0 ICA1L 130026 broad.mit.edu 37 2 203693608 203693608 + Missense_Mutation SNP A A G TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:203693608A>G ENST00000392237.2 - 3 282 c.125T>C c.(124-126)tTg>tCg p.L42S ICA1L_ENST00000358299.2_Missense_Mutation_p.L42S|ICA1L_ENST00000418208.1_Missense_Mutation_p.L42S|ICA1L_ENST00000425178.1_Missense_Mutation_p.L42S NM_138468.4 NP_612477.3 Q8NDH6 ICA1L_HUMAN islet cell autoantigen 1,69kDa-like 42 breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AGACGCCACCAAGTGCTCATC 0.398000 60 551 0 0 0.000781405 0 0 SCN2A 6326 broad.mit.edu 37 2 166234156 166234156 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:166234156G>A ENST00000375437.2 + 23 4594 c.4304G>A c.(4303-4305)cGa>cAa p.R1435Q SCN2A_ENST00000375427.2_Missense_Mutation_p.R1435Q|SCN2A_ENST00000283256.6_Missense_Mutation_p.R1435Q|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1435Q NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1435 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GTTGATTCACGAAATGTAAGT 0.269000 7 68 0 0 0.000274275 0 0 MGAM 8972 broad.mit.edu 37 7 141752605 141752605 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:141752605C>T ENST00000475668.2 + 26 3034 c.2980C>T c.(2980-2982)Cct>Tct p.P994S MGAM_ENST00000549489.2_Missense_Mutation_p.P994S O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 994 P-type 2. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TTCTGGAGTCCCTTTTTGCTA 0.418000 12 103 0 0 0.000422831 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73074358 73074358 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:73074358C>T ENST00000263674.3 + 15 5454 c.5104C>T c.(5104-5106)Ccc>Tcc p.P1702S NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1702 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 GCCTGGTGGTCCCTGCGGCAC 0.667000 5 22 0 0 0.000602214 0 0 UNC13C 440279 broad.mit.edu 37 15 54306429 54306429 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr15:54306429G>A ENST00000545554.1 + 1 1329 c.1329G>A c.(1327-1329)aaG>aaA p.K443K UNC13C_ENST00000537900.1_Silent_p.K443K|UNC13C_ENST00000260323.11_Silent_p.K443K Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 443 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AAATCAAGAAGAACAATTGGC 0.418000 24 113 0 0 0.00047179 0 0 FSTL4 23105 broad.mit.edu 37 5 132648406 132648406 + Nonsense_Mutation SNP G G A rs148048628 TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr5:132648406G>A ENST00000265342.7 - 6 916 c.667C>T c.(667-669)Cga>Tga p.R223* NM_015082.1 NP_055897.1 Q6MZW2 FSTL4_HUMAN follistatin-like 4 223 extracellular region calcium ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCGTCAAATCGGAGGAGGTCA 0.527000 5 39 0 0 0.00116845 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215844 20215844 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr14:20215844C>T ENST00000331723.1 + 1 258 c.258C>T c.(256-258)ttC>ttT p.F86F NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TAGGGGATTTCCTACAGCAGG 0.458000 5 52 0 0 0.00116845 0 0 UIMC1 51720 broad.mit.edu 37 5 176395770 176395770 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr5:176395770G>A ENST00000377219.2 - 6 1152 c.986C>T c.(985-987)cCt>cTt p.P329L UIMC1_ENST00000511320.1_Missense_Mutation_p.P329L|UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000377227.4_Missense_Mutation_p.P329L|UIMC1_ENST00000506128.1_Intron NM_016290.4 NP_057374.3 Q96RL1 UIMC1_HUMAN ubiquitin interaction motif containing 1 329 AIR. double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent BRCA1-A complex histone binding|K63-linked polyubiquitin binding NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 21 all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) Medulloblastoma(196;0.0145)|all_neural(177;0.0325) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GATCAGAGAAGGAGGTCTAGG 0.448000 18 81 0 0 0.000566183 0 0 FRMPD4 9758 broad.mit.edu 37 X 12736900 12736900 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chrX:12736900G>A ENST00000380682.1 + 16 4461 c.3955G>A c.(3955-3957)Gaa>Aaa p.E1319K NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 1319 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 CAAGATTAAGGAAACCACAGG 0.453000 15 42 0 0 0.000308642 0 0 TRIM55 84675 broad.mit.edu 37 8 67066444 67066444 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr8:67066444G>A ENST00000315962.4 + 9 1772 c.1399G>A c.(1399-1401)Ggg>Agg p.G467R TRIM55_ENST00000276573.7_Missense_Mutation_p.G467R|TRIM55_ENST00000353317.5_Intron|TRIM55_ENST00000350034.4_Intron NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 467 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) CGAAGGTCTGGGGCAAATAGG 0.562000 5 25 0 0 0.00116845 0 0 MUC17 140453 broad.mit.edu 37 7 100677629 100677629 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:100677629C>T ENST00000306151.4 + 3 2996 c.2932C>T c.(2932-2934)Cct>Tct p.P978S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 978 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) AACCTCGACTCCTAGTGAAGG 0.507000 24 182 0 0 0.000375601 0 0 SYTL4 94121 broad.mit.edu 37 X 99956480 99956480 + Nonsense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chrX:99956480C>T ENST00000372981.1 - 3 486 c.300G>A c.(298-300)tgG>tgA p.W100* SYTL4_ENST00000276141.6_Nonsense_Mutation_p.W100*|SYTL4_ENST00000455616.1_Nonsense_Mutation_p.W100*|SYTL4_ENST00000372989.1_Nonsense_Mutation_p.W100*|SYTL4_ENST00000263033.5_Nonsense_Mutation_p.W100*|SYTL4_ENST00000454200.2_Nonsense_Mutation_p.W100* Q96C24 SYTL4_HUMAN synaptotagmin-like 4 100 RabBD. exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCTTGCACCTCCAGGTACCAT 0.547000 13 32 0 0 0.000422831 0 0 OR4C15 81309 broad.mit.edu 37 11 55322146 55322146 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:55322146C>T ENST00000314644.2 + 1 364 c.364C>T c.(364-366)Ctg>Ttg p.L122L NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 CCTGTCCTTCCTGGATGCGTG 0.473000 HNSCC(20;0.049) 17 145 0 0 0.00074312 0 0 TLR7 51284 broad.mit.edu 37 X 12906163 12906163 + Missense_Mutation SNP T T C TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chrX:12906163T>C ENST00000380659.3 + 3 2675 c.2536T>C c.(2536-2538)Tcc>Ccc p.S846P NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 846 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) GTTCTCACTTTCCATATCTGT 0.443000 15 63 0 0 0.000422831 0 0 DZIP1 22873 broad.mit.edu 37 13 96293836 96293836 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr13:96293836C>T ENST00000347108.3 - 3 742 c.310G>A c.(310-312)Gag>Aag p.E104K DZIP1_ENST00000376829.2_Missense_Mutation_p.E104K|DZIP1_ENST00000361156.3_Missense_Mutation_p.E104K|DZIP1_ENST00000466027.1_5'UTR|DZIP1_ENST00000361396.2_Missense_Mutation_p.E104K Q86YF9 DZIP1_HUMAN DAZ interacting zinc finger protein 1 104 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) GGGCACTTCTCGTCTTCCAGC 0.602000 12 66 0 0 0.00185496 0 0 ACACA 31 broad.mit.edu 37 17 35598957 35598957 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr17:35598957G>A ENST00000353139.5 - 23 3425 c.2944C>T c.(2944-2946)Cta>Tta p.L982L ACACA_ENST00000394406.2_Silent_p.L945L|ACACA_ENST00000360679.3_Silent_p.L887L|ACACA_ENST00000335166.5_Silent_p.L867L NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 945 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TGGCTATCTAGGATGTTTGCA 0.423000 6 58 0 0 0.00116845 0 0 CCDC88C 440193 broad.mit.edu 37 14 91739956 91739956 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr14:91739956G>A ENST00000389857.6 - 30 5186 c.5100C>T c.(5098-5100)ttC>ttT p.F1700F CCDC88C_ENST00000331194.7_Silent_p.F224F NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 1700 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TGGCCTTTCGGAAGTAGTCAC 0.607000 10 41 0 0 0.00185496 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20369288 20369288 + RNA SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr19:20369288G>A ENST00000593655.1 - 0 199 TACGAAATTGGGATGACACGA 0.373000 18 92 0 0 0.000958276 0 0 FBXO9 26268 broad.mit.edu 37 6 52957292 52957292 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:52957292C>T ENST00000244426.6 + 7 921 c.749C>T c.(748-750)cCg>cTg p.P250L FBXO9_ENST00000370939.3_Missense_Mutation_p.P206L|FBXO9_ENST00000323557.7_Missense_Mutation_p.P240L NM_012347.4 NP_036479.1 Q9UK97 FBX9_HUMAN F-box protein 9 250 ubiquitin ligase complex ubiquitin-protein ligase activity kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1) 9 Lung NSC(77;0.103) AAACTTGTTCCGTACACGTCC 0.418000 13 123 0 0 0.000219431 0 0 SMPD2 6610 broad.mit.edu 37 6 109763198 109763198 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:109763198C>T ENST00000258052.3 + 4 605 c.246C>T c.(244-246)ctC>ctT p.L82L NM_003080.2 NP_003071.2 O60906 NSMA_HUMAN sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) 82 induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process integral to plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2) 8 all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548) Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566) GCAGTGGCCTCTGTGTCTTCT 0.517000 31 184 0 0 0.000953801 0 0 NCOA4 8031 broad.mit.edu 37 10 51585487 51585487 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr10:51585487C>T ENST00000452682.1 + 9 1886 c.1634C>T c.(1633-1635)aCt>aTt p.T545I NCOA4_ENST00000438493.1_Missense_Mutation_p.T545I|NCOA4_ENST00000414907.2_Missense_Mutation_p.T363I|NCOA4_ENST00000443446.1_Missense_Mutation_p.T529I|NCOA4_ENST00000374087.4_Missense_Mutation_p.T529I|NCOA4_ENST00000374082.1_Intron|NCOA4_ENST00000344348.6_Missense_Mutation_p.T529I|NCOA4_ENST00000430396.2_Missense_Mutation_p.T429I NM_001145260.1 NP_001138732.1 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 529 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1) 5 CCCATGAATACTTCCTGGTGT 0.498000 T RET papillary thyroid 10 91 0 0 0.000442599 0 0 ZBTB18 10472 broad.mit.edu 37 1 244217908 244217908 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:244217908C>T ENST00000358704.4 + 2 981 c.832C>T c.(832-834)Ctg>Ttg p.L278L NM_001278196.1|NM_006352.4|NM_205768.2 NP_001265125.1|NP_006343.2|NP_991331.1 zinc finger and BTB domain containing 18 GAGAAGCAACCTGGTGCAGGT 0.468000 7 50 0 0 0.000442599 0 0 OR1C1 26188 broad.mit.edu 37 1 247920941 247920941 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:247920941G>A ENST00000408896.2 - 1 1041 c.768C>T c.(766-768)atC>atT p.I256I NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AATAGACGGCGATGGCTGTGC 0.522000 7 43 0 0 8.12818e-05 0 0 ACR 49 broad.mit.edu 37 22 51178298 51178298 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr22:51178298C>T ENST00000216139.5 + 3 498 c.458C>T c.(457-459)tCg>tTg p.S153L ACR_ENST00000529621.1_Missense_Mutation_p.S153L NM_001097.2 NP_001088.2 P10323 ACRO_HUMAN acrosin 153 Peptidase S1. acrosome matrix dispersal|activation of adenylate cyclase activity acrosomal matrix|protein complex amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247) CCTCCCATTTCGTGTGGGCGC 0.547000 12 77 0 0 0.00136819 0 0 PNPO 55163 broad.mit.edu 37 17 46022027 46022027 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr17:46022027G>A ENST00000225573.4 + 3 414 c.309G>A c.(307-309)ggG>ggA p.G103G PNPO_ENST00000534893.1_Silent_p.G8G|PNPO_ENST00000544840.1_Silent_p.G103G|PNPO_ENST00000434554.2_Silent_p.G103G NM_018129.3 NP_060599.1 Q9NVS9 PNPO_HUMAN pyridoxamine 5'-phosphate oxidase 103 pyridoxine biosynthetic process cytosol FMN binding|pyridoxamine-phosphate oxidase activity endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1) 5 Pyridoxal Phosphate(DB00114) AGGGCTTCGGGAAAGATGGCT 0.502000 28 157 0 0 0.001512 0 0 TTBK1 84630 broad.mit.edu 37 6 43220587 43220587 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:43220587C>T ENST00000259750.4 + 3 302 c.219C>T c.(217-219)gtC>gtT p.V73V TTBK1_ENST00000304139.5_Silent_p.V22V NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 73 Protein kinase. cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CCAAGCAGGTCCTCAAGATGG 0.617000 9 56 0 0 0.000673444 0 0 KSR2 283455 broad.mit.edu 37 12 118198993 118198993 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr12:118198993G>A ENST00000425217.1 - 4 776 c.722C>T c.(721-723)aCc>aTc p.T241I KSR2_ENST00000339824.5_Missense_Mutation_p.T270I NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 270 Pro-rich. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CGGGGTCACGGTGGTGACGAT 0.721000 23 167 0 0 0.00047179 0 0 IDH1 3417 broad.mit.edu 37 2 209116179 209116179 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:209116179G>A ENST00000415913.1 - 3 478 c.97C>T c.(97-99)Ccc>Tcc p.P33S IDH1_ENST00000345146.2_Missense_Mutation_p.P33S|IDH1_ENST00000446179.1_Missense_Mutation_p.P33S O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 33 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.P33S(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TCCACGTAGGGAAAAATGAGT 0.423000 Mis gliobastoma 9 61 0 0 0.000274275 0 0 RPS6KA2 6196 broad.mit.edu 37 6 166862232 166862232 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:166862232C>T ENST00000510118.1 - 16 1727 c.1387G>A c.(1387-1389)Gac>Aac p.D463N RPS6KA2_ENST00000481261.2_Missense_Mutation_p.D349N|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.D438N|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.D349N|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.D446N Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 2 438 Protein kinase 2. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.D438N(1)|p.D446N(1) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) TACTCGGTGTCTGTGGCTTTA 0.587000 5 10 0 0 0.000602214 0 0 AAMP 14 broad.mit.edu 37 2 219134700 219134700 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:219134700G>A ENST00000248450.4 - 1 280 c.110C>T c.(109-111)cCg>cTg p.P37L AAMP_ENST00000444053.1_Missense_Mutation_p.P37L Q13685 AAMP_HUMAN angio-associated, migratory cell protein 37 angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration cell surface|cytoplasm|plasma membrane heparin binding haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1) 11 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGGGTCCGGCGGACCGGGATC 0.622000 16 95 0 0 0.000308642 0 0 TNFRSF8 943 broad.mit.edu 37 1 12175638 12175638 + Missense_Mutation SNP C C A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:12175638C>A ENST00000263932.2 + 8 1020 c.798C>A c.(796-798)gaC>gaA p.D266E TNFRSF8_ENST00000417814.2_Missense_Mutation_p.D155E NM_001243.3 NP_001234.2 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, member 8 266 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) CCTTAGATGACCTTGTGGAGA 0.572000 7 92 2.17888e-05 0.000111011 0.000442599 1 0 S1PR1 1901 broad.mit.edu 37 1 101705419 101705419 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:101705419G>A ENST00000305352.6 + 2 1254 c.879G>A c.(877-879)gcG>gcA p.A293A NM_001400.4 NP_001391.2 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 293 cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity p.A293A(1) NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 43 TCTTCAGAGCGGAGTACTTCC 0.562000 26 151 0 0 0.00106085 0 0 SCN10A 6336 broad.mit.edu 37 3 38770223 38770223 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr3:38770223C>T ENST00000449082.2 - 15 2449 c.2450G>A c.(2449-2451)cGa>cAa p.R817Q NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 817 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GATATTTTTTCGGTTGTTACG 0.537000 8 46 0 0 0.000274275 0 0 ALKBH2 121642 broad.mit.edu 37 12 109530455 109530455 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr12:109530455G>A ENST00000429722.2 - 2 500 c.137C>T c.(136-138)cCa>cTa p.P46L ALKBH2_ENST00000343075.3_Missense_Mutation_p.P46L|ALKBH2_ENST00000440112.2_Missense_Mutation_p.P46L NM_001145374.1 NP_001138846.1 Q6NS38 ALKB2_HUMAN alkB, alkylation repair homolog 2 (E. coli) 46 DNA dealkylation involved in DNA repair|oxidative DNA demethylation nucleoplasm cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(3)|large_intestine(1)|lung(3) 8 Vitamin C(DB00126) TCCATTCCCTGGGGCCTCTCT 0.582000 Direct reversal of damage 20 114 0 0 0.00121646 0 0 COBL 23242 broad.mit.edu 37 7 51095552 51095552 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:51095552C>T ENST00000395542.2 - 12 3671 c.3487G>A c.(3487-3489)Gac>Aac p.D1163N COBL_ENST00000265136.7_Missense_Mutation_p.D1081N O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 1081 WH2 2. NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) CAAATACTGTCTGTTTCATTT 0.498000 11 90 0 0 0.00136819 0 0 ROR1 4919 broad.mit.edu 37 1 64643408 64643408 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:64643408G>A ENST00000371079.1 + 9 2059 c.1684G>A c.(1684-1686)Gag>Aag p.E562K ROR1_ENST00000545203.1_Missense_Mutation_p.E13K NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 562 Protein kinase. E -> D (in a breast cancer sample; somatic mutation). transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 GGATCTCCATGAGTTCCTCAT 0.488000 12 69 0 0 0.000978159 0 0 HAVCR1 26762 broad.mit.edu 37 5 156459882 156459882 + Splice_Site SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr5:156459882C>T ENST00000517644.1 - 4 283 c.e4-1 HAVCR1_ENST00000339252.3_Silent_p.K323K|HAVCR1_ENST00000425854.1_Intron|HAVCR1_ENST00000522693.1_Intron|HAVCR1_ENST00000544197.1_Silent_p.K323K|HAVCR1_ENST00000523175.1_Silent_p.K323K Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 interspecies interaction between organisms integral to membrane receptor activity endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTTGAACCTCCTTTTTGAAGA 0.338000 40 221 0 0 0.000781405 0 0 SLC12A7 10723 broad.mit.edu 37 5 1060544 1060544 + Missense_Mutation SNP A A T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr5:1060544A>T ENST00000264930.5 - 21 2805 c.2762T>A c.(2761-2763)tTc>tAc p.F921Y NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 921 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) CTCGTAGGTGAAAGCAGATAT 0.552000 7 58 0 0 0.000157383 0 0 CSRP2BP 57325 broad.mit.edu 37 20 18143107 18143107 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr20:18143107G>A ENST00000278816.2 + 7 1839 c.1189G>A c.(1189-1191)Gtg>Atg p.V397M CSRP2BP_ENST00000489634.2_Missense_Mutation_p.V269M|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.V397M|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.V396M Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 397 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1) 34 TTCTGGGCCAGTGGTTGGGGT 0.532000 5 17 0 0 0.000602214 0 0 BRWD3 254065 broad.mit.edu 37 X 79999689 79999689 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chrX:79999689G>A ENST00000373275.4 - 8 871 c.655C>T c.(655-657)Cgt>Tgt p.R219C NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 219 p.R219C(1) breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 GAGTGTCCACGAAGTGTAGCA 0.403000 11 36 0 0 0.00185496 0 0 UBASH3A 53347 broad.mit.edu 37 21 43857599 43857599 + Splice_Site SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr21:43857599G>A ENST00000319294.6 + 11 1426 c.1393_splice c.e11-1 p.G465_splice UBASH3A_ENST00000291535.6_Splice_Site_p.G427_splice|UBASH3A_ENST00000398367.1_Splice_Site_p.G427_splice NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 465 Phosphatase-like. cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 ATTTTCCAGGGGACGCGCTAC 0.537000 9 44 0 0 0.000442599 0 0 SLC35F3 148641 broad.mit.edu 37 1 234452397 234452397 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:234452397C>T ENST00000366618.3 + 5 1023 c.878C>T c.(877-879)gCt>gTt p.A293V SLC35F3_ENST00000366617.3_Missense_Mutation_p.A224V NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 224 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) ATGACCTACGCTGATGGCTTC 0.582000 26 172 0 0 0.00047179 0 0 FPR1 2357 broad.mit.edu 37 19 52249918 52249918 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr19:52249918G>A ENST00000595042.1 - 3 471 c.330C>T c.(328-330)ttC>ttT p.F110F FPR1_ENST00000304748.4_Silent_p.F110F NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 110 activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) AGACACTTCCGAACAAGTTGA 0.542000 7 60 0 0 0.000157383 0 0 CATSPERB 79820 broad.mit.edu 37 14 92159768 92159768 + Nonsense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr14:92159768C>T ENST00000256343.3 - 8 828 c.672G>A c.(670-672)tgG>tgA p.W224* NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 224 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) TCATGTTAAACCATGTGGTAT 0.353000 9 64 0 0 0.000673444 0 0 FAM209A 200232 broad.mit.edu 37 20 55100954 55100954 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr20:55100954C>T ENST00000371328.3 + 2 667 c.344C>T c.(343-345)aCc>aTc p.T115I GCNT7_ENST00000243913.4_5'UTR|FAM209A_ENST00000481560.1_3'UTR NM_001012971.3 NP_001012989.2 family with sequence similarity 209, member A GCATTCAATACCTTAATGGAA 0.473000 7 78 0 0 0.000157383 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33751639 33751639 + Silent SNP T T C TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr5:33751639T>C ENST00000504830.1 - 3 839 c.504A>G c.(502-504)caA>caG p.Q168Q ADAMTS12_ENST00000352040.3_Silent_p.Q168Q|ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000515401.1_Silent_p.Q168Q NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 168 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 CATGTGGTAGTTGGAAAAATC 0.383000 HNSCC(64;0.19) 8 88 0 0 0.000157383 0 0 ZNF331 55422 broad.mit.edu 37 19 54080048 54080048 + Silent SNP C C T rs141196058 TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr19:54080048C>T ENST00000253144.9 + 7 1567 c.234C>T c.(232-234)tcC>tcT p.S78S ZNF331_ENST00000449416.1_Silent_p.S78S|ZNF331_ENST00000411977.2_Silent_p.S78S|ZNF331_ENST00000513999.1_Silent_p.S78S|ZNF331_ENST00000512387.1_Silent_p.S78S|ZNF331_ENST00000511593.2_Silent_p.S78S|ZNF331_ENST00000511154.1_Silent_p.S78S|ZNF331_ENST00000513265.1_Silent_p.S78S NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 78 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S78S(1) NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) GAAGTAAATCCCTTGGCCGTA 0.393000 T ? follicular thyroid adenoma 7 75 0 0 8.12818e-05 0 0 MUC16 94025 broad.mit.edu 37 19 9088334 9088334 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr19:9088334G>A ENST00000397910.4 - 1 3684 c.3481C>T c.(3481-3483)Cct>Tct p.P1161S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1161 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTGGGAGTAGGAGAAGAAGGA 0.488000 12 68 0 0 0.000219431 0 0 UBAC2 337867 broad.mit.edu 37 13 100020040 100020040 + Splice_Site SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr13:100020040G>A ENST00000376440.2 + 6 1205 c.e6-1 UBAC2_ENST00000460562.1_Splice_Site|UBAC2_ENST00000403766.3_Splice_Site NM_177967.3 NP_808882.1 Q8NBM4 UBAC2_HUMAN UBA domain containing 2 integral to membrane breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2) 10 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TCTCTTTTTAGGGAGGAATGA 0.463000 9 73 0 0 0.000274275 0 0 CEACAM5 1048 broad.mit.edu 37 19 42231208 42231208 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr19:42231208G>A ENST00000221992.6 + 9 2195 c.2081G>A c.(2080-2082)gGa>gAa p.G694E CEACAM5_ENST00000405816.1_Missense_Mutation_p.G694E|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.G693E NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 694 anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) ATCATGATTGGAGTGCTGGTT 0.478000 45 308 0 0 0.000781405 0 0 PTCD2 79810 broad.mit.edu 37 5 71618054 71618054 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr5:71618054G>A ENST00000380639.5 + 2 199 c.183G>A c.(181-183)aaG>aaA p.K61K PTCD2_ENST00000543322.1_Silent_p.K61K|PTCD2_ENST00000536805.1_5'UTR|PTCD2_ENST00000503868.1_Silent_p.K61K NM_024754.3 NP_079030.3 Q8WV60 PTCD2_HUMAN pentatricopeptide repeat domain 2 61 breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1) 11 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.73e-53) TTCAACAAAAGAAAGTGGCTG 0.284000 27 182 0 0 0.00178596 0 0 ATP13A4 84239 broad.mit.edu 37 3 193120522 193120522 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr3:193120522G>A ENST00000342695.4 - 30 3832 c.3510C>T c.(3508-3510)acC>acT p.T1170T ATP13A4_ENST00000392443.3_Silent_p.T1151T|ATP13A4_ENST00000400270.2_Silent_p.T186T|ATP13A4_ENST00000482964.1_5'UTR NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 1170 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CAGAGTGGGAGGTTTGGTTTA 0.468000 6 49 0 0 0.00116845 0 0 RYR2 6262 broad.mit.edu 37 1 237936894 237936894 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:237936894C>T ENST00000366574.2 + 87 12038 c.11721C>T c.(11719-11721)tcC>tcT p.S3907S RYR2_ENST00000360064.6_Silent_p.S3913S|RYR2_ENST00000542537.1_Silent_p.S3891S NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3907 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGAATTTCTCCAAAGCTATCC 0.348000 4 49 0 0 0.000602214 0 0 APOA4 337 broad.mit.edu 37 11 116691864 116691864 + Nonsense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:116691864G>A ENST00000357780.3 - 3 1024 c.910C>T c.(910-912)Cga>Tga p.R304* NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) ACCCGGCGTCGGAACTCCTCC 0.652000 37 260 0 0 0.00170553 0 0 MYCBP2 23077 broad.mit.edu 37 13 77672557 77672557 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr13:77672557G>A ENST00000407578.2 - 56 8998 c.8732C>T c.(8731-8733)tCc>tTc p.S2911F MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000360084.5_Missense_Mutation_p.S396F|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S2873F|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S2873F NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 2873 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) AGATCCAGGGGAATCTGTAGA 0.468000 7 56 0 0 8.12818e-05 0 0 EPRS 2058 broad.mit.edu 37 1 220156683 220156683 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:220156683G>A ENST00000366923.3 - 22 3417 c.3148C>T c.(3148-3150)Cgt>Tgt p.R1050C NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 1050 Prolyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) GCCCAGGGACGAAGAATATAA 0.378000 5 49 0 0 8.12818e-05 0 0 HERC5 51191 broad.mit.edu 37 4 89415451 89415451 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr4:89415451G>A ENST00000264350.3 + 18 2566 c.2413G>A c.(2413-2415)Gac>Aac p.D805N HERC5_ENST00000508159.1_Missense_Mutation_p.D443N NM_016323.3 NP_057407.2 Q9UII4 HERC5_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 5 805 HECT. innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) ATCATTGGAAGACTTGAAAGA 0.393000 5 37 0 0 0.000602214 0 0 NCOA1 8648 broad.mit.edu 37 2 24991212 24991212 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:24991212C>T ENST00000406961.1 + 23 4930 c.4278C>T c.(4276-4278)acC>acT p.T1426T NCOA1_ENST00000405141.1_3'UTR|NCOA1_ENST00000348332.3_Silent_p.T1426T|NCOA1_ENST00000288599.5_3'UTR|NCOA1_ENST00000407230.1_3'UTR|NCOA1_ENST00000395856.3_Silent_p.T1425T Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 1426 PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GACCACAGACCCCCCAGGCCC 0.488000 T PAX3 alveolar rhadomyosarcoma 7 43 0 0 0.000274275 0 0 FAM220A 84792 broad.mit.edu 37 7 6370297 6370297 + Missense_Mutation SNP T T A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:6370297T>A ENST00000313324.4 - 2 956 c.489A>T c.(487-489)gaA>gaT p.E163D NM_001037163.1 NP_001032240.1 Q7Z4H9 SIPAR_HUMAN family with sequence similarity 220, member A 163 nucleus AACTTCCCATTTCCGGCACTT 0.607000 5 42 0 0 0.000602214 0 0 TTC7A 57217 broad.mit.edu 37 2 47287978 47287978 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:47287978C>T ENST00000319190.5 + 19 2591 c.2223C>T c.(2221-2223)ttC>ttT p.F741F TTC7A_ENST00000263737.6_Silent_p.F387F|TTC7A_ENST00000394850.2_Silent_p.F765F|TTC7A_ENST00000409245.1_Silent_p.F707F NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 741 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) CGGGCCTCTTCCCCACTTCTC 0.602000 13 59 0 0 0.000422831 0 0 SCN9A 6335 broad.mit.edu 37 2 167140996 167140996 + Splice_Site SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:167140996C>T ENST00000409672.1 - 12 2287 c.1941_splice c.e12+1 p.E647_splice SCN9A_ENST00000409435.1_Silent_p.E647E|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.E648E|SCN9A_ENST00000375387.4_Silent_p.E648E NM_002977.3 NP_002968.1 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 647 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) CTATTATCACCTCTGGCAGAA 0.527000 4 17 0 0 0.00024832 0 0 CRX 1406 broad.mit.edu 37 19 48339542 48339542 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr19:48339542G>A ENST00000221996.7 + 3 349 c.143G>A c.(142-144)cGg>cAg p.R48Q TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.R48Q NM_000554.4 NP_000545.1 O43186 CRX_HUMAN cone-rod homeobox 48 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1) 23 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) ACCTTCACCCGGAGCCAACTG 0.637000 10 35 0 0 0.000442599 0 0 STAC 6769 broad.mit.edu 37 3 36527639 36527639 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr3:36527639G>A ENST00000273183.3 + 5 885 c.585G>A c.(583-585)aaG>aaA p.K195K STAC_ENST00000457375.2_Silent_p.K134K|STAC_ENST00000476388.1_3'UTR NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain 195 intracellular signal transduction cytoplasm|soluble fraction metal ion binding endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 GTGGCAATAAGGTGGACCCTG 0.582000 18 131 0 0 0.000295444 0 0 BTNL8 79908 broad.mit.edu 37 5 180335744 180335744 + Missense_Mutation SNP G G A rs139672035 TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr5:180335744G>A ENST00000231229.4 + 2 442 c.208G>A c.(208-210)Ggg>Agg p.G70R BTNL8_ENST00000508408.1_Missense_Mutation_p.G70R|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000340184.4_Missense_Mutation_p.G70R NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 70 Ig-like V-type 1. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTACAGGGACGGGAAGGACCA 0.532000 19 158 0 0 0.00152264 0 0 NOTCH2NL 388677 broad.mit.edu 37 1 145273351 145273351 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:145273351C>T ENST00000369340.3 + 4 649 c.205C>T c.(205-207)Cca>Tca p.P69S NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.P69S|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.P69S|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.P69S Q7Z3S9 NT2NL_HUMAN notch 2 N-terminal like 69 EGF-like 3. cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 27 GACATCTCATCCATGCTTTGT 0.552000 45 1164 0 0 0.00128727 0 0 NFATC3 4775 broad.mit.edu 37 16 68224858 68224858 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr16:68224858C>T ENST00000349223.5 + 9 2510 c.2286C>T c.(2284-2286)tcC>tcT p.S762S NFATC3_ENST00000575270.1_Silent_p.S762S|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Silent_p.S762S|NFATC3_ENST00000329524.4_Silent_p.S762S NM_173163.2 NP_775186.1 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 762 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) TGACCTCATCCCATCTGCCAC 0.448000 7 47 0 0 8.12818e-05 0 0 PRRC2A 7916 broad.mit.edu 37 6 31596977 31596977 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:31596977C>T ENST00000376033.2 + 13 2056 c.1822C>T c.(1822-1824)Cct>Tct p.P608S PRRC2A_ENST00000376007.4_Missense_Mutation_p.P608S NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 608 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 GGTTCCTCCTCCTACCACACC 0.537000 7 83 0 0 8.12818e-05 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12855615 12855615 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:12855615G>A ENST00000332296.7 + 4 998 c.895G>A c.(895-897)Gaa>Aaa p.E299K PRAMEF1_ENST00000400814.3_Missense_Mutation_p.E54K NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 299 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGAGAACTTGGAATTAACTTA 0.463000 11 87 0 0 0.000978159 0 0 ZSCAN31 64288 broad.mit.edu 37 6 28294165 28294165 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:28294165G>A ENST00000414429.1 - 8 1902 c.999C>T c.(997-999)ctC>ctT p.L333L ZSCAN31_ENST00000439158.1_Silent_p.L333L|ZSCAN31_ENST00000344279.6_Silent_p.L333L|ZSCAN31_ENST00000446474.1_Silent_p.L174L|ZSCAN31_ENST00000396838.2_Silent_p.L333L|ZSCAN31_ENST00000481934.1_5'UTR zinc finger and SCAN domain containing 31 ATGAGCTGAGGAGGAAAGCCT 0.502000 20 184 0 0 0.000295444 0 0 OR2A14 135941 broad.mit.edu 37 7 143826686 143826686 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:143826686C>T ENST00000408899.2 + 1 536 c.481C>T c.(481-483)Ctc>Ttc p.L161F NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) CCCTTTAGTTCTCATCCTGAG 0.542000 24 213 0 0 0.00106085 0 0 ARRDC1 92714 broad.mit.edu 37 9 140508859 140508859 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr9:140508859C>T ENST00000371421.4 + 6 791 c.727C>T c.(727-729)Ctg>Ttg p.L243L ARRDC1_ENST00000491911.1_3'UTR NM_152285.2 NP_689498.1 Q8N5I2 ARRD1_HUMAN arrestin domain containing 1 243 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1) 13 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464) CGAGCAGATCCTGGTGCCTGC 0.657000 11 69 0 0 0.000978159 0 0 RRP12 23223 broad.mit.edu 37 10 99139485 99139485 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr10:99139485G>A ENST00000370992.4 - 14 1687 c.1576C>T c.(1576-1578)Ccc>Tcc p.P526S RRP12_ENST00000536831.1_Missense_Mutation_p.P244S|RRP12_ENST00000315563.6_Missense_Mutation_p.P426S|RRP12_ENST00000414986.1_Missense_Mutation_p.P465S NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) 526 integral to membrane|nuclear membrane|nucleolus protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) GCCGTGTGGGGGAAATGAGGG 0.597000 8 32 0 0 0.000442599 0 0 GABRA2 2555 broad.mit.edu 37 4 46312230 46312230 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr4:46312230G>A ENST00000510861.1 - 6 692 c.519C>T c.(517-519)ttC>ttT p.F173F GABRA2_ENST00000514090.1_Silent_p.F173F|GABRA2_ENST00000540012.1_Silent_p.F118F|GABRA2_ENST00000356504.1_Silent_p.F173F|GABRA2_ENST00000381620.4_Silent_p.F173F|GABRA2_ENST00000507069.1_Silent_p.F173F|GABRA2_ENST00000515082.1_Silent_p.F173F P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 173 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CATCCATTGGGAAATCCTCCA 0.378000 9 72 0 0 0.000673444 0 0 CDH4 1002 broad.mit.edu 37 20 60485526 60485526 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr20:60485526C>T ENST00000360469.5 + 9 1325 c.1237C>T c.(1237-1239)Ctc>Ttc p.L413F CDH4_ENST00000543233.1_Missense_Mutation_p.L339F NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 413 Cadherin 3. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GGTCGCAAACCTCACGGTGAT 0.542000 4 31 0 0 0.00024832 0 0 DRGX 644168 broad.mit.edu 37 10 50574314 50574314 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr10:50574314G>A ENST00000374139.2 - 6 649 c.639C>T c.(637-639)gcC>gcT p.A213A DRGX_ENST00000434016.1_Silent_p.A218A C9JW76 C9JW76_HUMAN dorsal root ganglia homeobox 218 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 11 AGTGCTCGCGGGCCTTCATGC 0.677000 8 73 0 0 0.000442599 0 0 LY9 4063 broad.mit.edu 37 1 160783651 160783651 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:160783651C>T ENST00000263285.5 + 3 710 c.680C>T c.(679-681)cCc>cTc p.P227L LY9_ENST00000341032.4_Missense_Mutation_p.P227L|LY9_ENST00000368041.2_Missense_Mutation_p.P187L|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 227 Ig-like C2-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GCCCAGAACCCCGTCAGCCAG 0.547000 6 115 0 0 0.000157383 0 0 NOX3 50508 broad.mit.edu 37 6 155774583 155774583 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:155774583G>A ENST00000159060.2 - 4 397 c.295C>T c.(295-297)Ctc>Ttc p.L99F NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 99 Ferric oxidoreductase. electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) TGAAATCTGAGGTTTTTGTCT 0.368000 27 271 0 0 0.00127121 0 0 OR5H1 26341 broad.mit.edu 37 3 97851872 97851872 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr3:97851872G>A ENST00000354565.2 + 1 331 c.331G>A c.(331-333)Gaa>Aaa p.E111K RP11-343D2.11_ENST00000508964.1_RNA NM_001005338.1 NP_001005338.1 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, member 1 111 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 TGTAACCACGGAATGTTTTCT 0.408000 16 163 0 0 0.00074312 0 0 GIN1 54826 broad.mit.edu 37 5 102432371 102432371 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr5:102432371G>A ENST00000399004.2 - 7 1262 c.1168C>T c.(1168-1170)Cct>Tct p.P390S GIN1_ENST00000508629.1_Intron NM_017676.2 NP_060146.2 Q9NXP7 GIN1_HUMAN gypsy retrotransposon integrase 1 390 DNA integration DNA binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283) Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794) ATGACACAAGGACCAACCCAT 0.393000 19 145 0 0 0.000586117 0 0 TTN 7273 broad.mit.edu 37 2 179597660 179597660 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:179597660C>T ENST00000589042.1 - 55 16467 c.16243G>A c.(16243-16245)Gag>Aag p.E5415K TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E5098K|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E4171K|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5098 Ig-like 35. 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) CTGATGATCTCCAAAGAGGCT 0.493000 6 34 0 0 8.12818e-05 0 0 UGP2 7360 broad.mit.edu 37 2 64085050 64085050 + Nonsense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:64085050C>T ENST00000337130.5 + 3 711 c.235C>T c.(235-237)Cag>Tag p.Q79* UGP2_ENST00000487469.1_Intron|UGP2_ENST00000467648.2_Nonsense_Mutation_p.Q68*|UGP2_ENST00000445915.2_Nonsense_Mutation_p.Q88*|UGP2_ENST00000394417.2_Nonsense_Mutation_p.Q68* NM_006759.3 NP_006750.3 Q16851 UGPA_HUMAN UDP-glucose pyrophosphorylase 2 79 glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1) 18 GGGAAAAATCCAGAGACCCCC 0.413000 9 189 0 0 0.000274275 0 0 ZNF536 9745 broad.mit.edu 37 19 31039066 31039066 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr19:31039066G>A ENST00000355537.3 + 4 2687 c.2540G>A c.(2539-2541)gGa>gAa p.G847E NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 847 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GGTCTCCCTGGAATCGACTTC 0.577000 5 68 0 0 0.00116845 0 0 ZNF292 23036 broad.mit.edu 37 6 87969747 87969747 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:87969747C>T ENST00000369577.3 + 8 6443 c.6400C>T c.(6400-6402)Cat>Tat p.H2134Y ZNF292_ENST00000339907.4_Missense_Mutation_p.H2129Y NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 2134 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) CTTGATTCTCCATTACCAGGC 0.418000 14 68 0 0 0.000219431 0 0 MUC17 140453 broad.mit.edu 37 7 100679055 100679055 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:100679055G>A ENST00000306151.4 + 3 4422 c.4358G>A c.(4357-4359)gGa>gAa p.G1453E NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1453 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) CCTAGTGAAGGAAAGACTCCA 0.498000 25 173 0 0 0.00047179 0 0 MUC16 94025 broad.mit.edu 37 19 9083281 9083281 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr19:9083281G>A ENST00000397910.4 - 1 8737 c.8534C>T c.(8533-8535)cCc>cTc p.P2845L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2845 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TATCCCTTTGGGTGCTGTTGA 0.507000 4 18 0 0 0.00024832 0 0 OR8B12 219858 broad.mit.edu 37 11 124413287 124413287 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:124413287C>T ENST00000306842.2 - 1 288 c.264G>A c.(262-264)aaG>aaA p.K88K NM_001005195.1 NP_001005195.1 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, member 12 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) AAATGATGTTCTTCCTTGAGA 0.433000 7 64 0 0 0.000157383 0 0 MFSD5 84975 broad.mit.edu 37 12 53647900 53647900 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr12:53647900C>T ENST00000534842.1 + 2 1749 c.1602C>T c.(1600-1602)ttC>ttT p.F534F MFSD5_ENST00000329548.4_Silent_p.F427F NM_001170790.1 NP_001164261.1 Q6N075 MFSD5_HUMAN major facilitator superfamily domain containing 5 427 transport integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1) 16 TGGGACTCTTCACCGTGGTAA 0.542000 9 56 0 0 0.000442599 0 0 BRINP1 1620 broad.mit.edu 37 9 121929766 121929766 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr9:121929766G>A ENST00000265922.3 - 8 2343 c.1882C>T c.(1882-1884)Cta>Tta p.L628L DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 628 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 TTTCGCAGTAGGGTAGGTAGC 0.537000 16 99 0 0 0.000422831 0 0 SULF2 55959 broad.mit.edu 37 20 46295078 46295078 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr20:46295078C>T ENST00000359930.4 - 12 2582 c.1731G>A c.(1729-1731)aaG>aaA p.K577K SULF2_ENST00000467815.1_Silent_p.K577K|SULF2_ENST00000361612.4_Silent_p.K577K|SULF2_ENST00000484875.1_Silent_p.K577K NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 577 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 CCCCACCATCCTTGTCATCTT 0.627000 8 59 0 0 0.000157383 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106558458 106558458 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:106558458G>A ENST00000526355.1 - 8 2484 c.2016C>T c.(2014-2016)ttC>ttT p.F672F GUCY1A2_ENST00000347596.2_Silent_p.F693F|GUCY1A2_ENST00000282249.2_Silent_p.F703F NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 672 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) GAATGAATGTGAAACTTTCTT 0.408000 23 110 0 0 0.000586117 0 0 ADRA1A 148 broad.mit.edu 37 8 26628003 26628003 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr8:26628003G>A ENST00000380573.3 - 3 2087 c.1064C>T c.(1063-1065)gCc>gTc p.A355V ADRA1A_ENST00000380586.1_Missense_Mutation_p.A355V|ADRA1A_ENST00000519229.1_Missense_Mutation_p.A355V|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Missense_Mutation_p.A355V|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000276393.4_Missense_Mutation_p.A355V|ADRA1A_ENST00000354550.4_Missense_Mutation_p.A355V P35348 ADA1A_HUMAN adrenoceptor alpha 1A 355 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) GTAGCCCAGGGCATGTTTGGA 0.542000 23 145 0 0 0.00047179 0 0 PIWIL4 143689 broad.mit.edu 37 11 94353025 94353025 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:94353025G>A ENST00000299001.6 + 18 2479 c.2268G>A c.(2266-2268)gtG>gtA p.V756V PIWIL4_ENST00000537419.1_Silent_p.V107V|RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA NM_152431.2 NP_689644.2 Q7Z3Z4 PIWL4_HUMAN piwi-like RNA-mediated gene silencing 4 756 Piwi. cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2) 30 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GCACTGTTGTGGATTCAGAAG 0.443000 11 63 0 0 0.000978159 0 0 ATP8A2 51761 broad.mit.edu 37 13 26152961 26152961 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr13:26152961G>A ENST00000381655.2 + 21 1933 c.1791G>A c.(1789-1791)gtG>gtA p.V597V ATP8A2_ENST00000255283.8_Silent_p.V557V|ATP8A2_ENST00000491840.1_3'UTR NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 557 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) AGGATAATGTGATTTTTGAGA 0.373000 5 32 0 0 0.00116845 0 0 GRIK5 2901 broad.mit.edu 37 19 42558499 42558499 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr19:42558499C>T ENST00000262895.3 - 8 1028 c.1029G>A c.(1027-1029)ggG>ggA p.G343G GRIK5_ENST00000593562.1_Silent_p.G343G|GRIK5_ENST00000301218.4_Silent_p.G343G NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 343 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) TGAGGCTGGTCCCGTGGGGCC 0.652000 10 55 0 0 0.000673444 0 0 CENPN 55839 broad.mit.edu 37 16 81045558 81045558 + Missense_Mutation SNP T T C TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr16:81045558T>C ENST00000305850.5 + 2 804 c.14T>C c.(13-15)gTt>gCt p.V5A CENPN_ENST00000569461.1_3'UTR|CMC2_ENST00000565914.1_Intron|CENPN_ENST00000439957.3_Missense_Mutation_p.V5A|CENPN_ENST00000428963.2_Missense_Mutation_p.V5A|CENPN_ENST00000393335.3_Missense_Mutation_p.V5A|CENPN_ENST00000299572.5_Missense_Mutation_p.V5A NM_001100624.2|NM_001270474.1 NP_001094094.2|NP_001257403.1 Q96H22 CENPN_HUMAN centromere protein N 5 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm breast(1)|large_intestine(5)|lung(4) 10 GATGAGACTGTTGCTGAGTTC 0.368000 4 29 0 0 0.00116845 0 0 ILDR1 286676 broad.mit.edu 37 3 121712760 121712760 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr3:121712760G>A ENST00000273691.3 - 6 809 c.704C>T c.(703-705)cCt>cTt p.P235L ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.P247L|ILDR1_ENST00000393631.1_Missense_Mutation_p.P190L|ILDR1_ENST00000344209.5_Missense_Mutation_p.P279L NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 279 cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) GGCGATGGGAGGCTGATTGGT 0.542000 4 47 0 0 0.00116845 0 0 UNC79 57578 broad.mit.edu 37 14 93954060 93954060 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr14:93954060C>T ENST00000553484.1 + 5 825 c.671C>T c.(670-672)tCa>tTa p.S224L UNC79_ENST00000393151.2_Missense_Mutation_p.S224L|UNC79_ENST00000256339.4_Missense_Mutation_p.S47L|UNC79_ENST00000555664.1_Missense_Mutation_p.S224L Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 224 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 CTCTCTGCATCATCCATGCTA 0.388000 13 111 0 0 0.000308642 0 0 TMEM43 79188 broad.mit.edu 37 3 14176677 14176677 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr3:14176677C>T ENST00000306077.4 + 9 979 c.725C>T c.(724-726)tCc>tTc p.S242F NM_024334.2 NP_077310.1 Q9BTV4 TMM43_HUMAN transmembrane protein 43 242 endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2) 19 TTGCGTGTCTCCTTTTCCTAT 0.627000 4 19 0 0 0.000602214 0 0 FASTKD5 60493 broad.mit.edu 37 20 3127538 3127538 + Missense_Mutation SNP G G A rs114422732 by1000genomes TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr20:3127538G>A ENST00000380266.3 - 2 2500 c.2179C>T c.(2179-2181)Cgg>Tgg p.R727W UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron NM_021826.4 NP_068598.1 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 727 RAP. apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 TAGCCAAGCCGAGCCAGCTGC 0.483000 17 70 0 0 0.000422831 0 0 TRBV5-5 28610 broad.mit.edu 37 7 142149026 142149026 + RNA SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:142149026C>T ENST00000390372.3 - 0 251 AGCTGAGAATCGATCAGGGAA 0.517000 9 64 0 0 0.000274275 0 0 CAMK1 8536 broad.mit.edu 37 3 9799255 9799255 + Missense_Mutation SNP C C T rs56033923 by1000genomes TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr3:9799255C>T ENST00000256460.3 - 12 1258 c.1081G>A c.(1081-1083)Gaa>Aaa p.E361K OGG1_ENST00000302008.8_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Intron NM_003656.4 NP_003647.1 Q14012 KCC1A_HUMAN calcium/calmodulin-dependent protein kinase I 361 E -> K (in dbSNP:rs56033923). cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 12 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.0475) GGGGACAGTTCTGTGCCCGGC 0.682000 8 33 0 0 0.000442599 0 0 ABCC4 10257 broad.mit.edu 37 13 95858972 95858972 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr13:95858972G>A ENST00000376887.4 - 8 1089 c.975C>T c.(973-975)ttC>ttT p.F325F ABCC4_ENST00000412704.1_Silent_p.F325F|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Silent_p.F250F|ABCC4_ENST00000431522.1_Silent_p.F325F NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 325 ABC transmembrane type-1 1. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TGCTTGCACTGAAAAATGAAG 0.473000 17 163 0 0 0.00074312 0 0 CHD5 26038 broad.mit.edu 37 1 6202348 6202348 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:6202348G>A ENST00000262450.3 - 15 2375 c.2276C>T c.(2275-2277)tCc>tTc p.S759F CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 759 Helicase ATP-binding. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GATGATGGTGGAGAGGGGCGC 0.642000 7 43 0 0 0.000157383 0 0 FER1L6 654463 broad.mit.edu 37 8 125082714 125082714 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr8:125082714G>A ENST00000522917.1 + 30 4047 c.3841G>A c.(3841-3843)Gac>Aac p.D1281N FER1L6_ENST00000399018.1_Missense_Mutation_p.D1281N|FER1L6-AS2_ENST00000520031.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1281 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AAAGATATATGACGGTGATCT 0.418000 10 111 0 0 0.00185496 0 0 MYSM1 114803 broad.mit.edu 37 1 59139288 59139288 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:59139288C>T ENST00000472487.1 - 11 1568 c.1529G>A c.(1528-1530)gGa>gAa p.G510E MYSM1_ENST00000493821.1_5'UTR NM_001085487.2 NP_001078956.1 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 510 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(7;9.36e-06) ACACCAGTTTCCCCATGGGTC 0.383000 6 50 0 0 0.000157383 0 0 OR5D16 390144 broad.mit.edu 37 11 55606700 55606700 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:55606700C>T ENST00000378396.1 + 1 473 c.473C>T c.(472-474)tCc>tTc p.S158F NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S158F(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) GTCGCATGTTCCCTGACACTC 0.448000 7 47 0 0 8.12818e-05 0 0 FAM129A 116496 broad.mit.edu 37 1 184792371 184792371 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:184792371C>T ENST00000367511.3 - 8 1108 c.915G>A c.(913-915)ctG>ctA p.L305L FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 305 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 TCGTTCCTTCCAGGCCCTTTG 0.448000 13 52 0 0 0.00185496 0 0 TRIM55 84675 broad.mit.edu 37 8 67066485 67066485 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr8:67066485G>A ENST00000315962.4 + 9 1813 c.1440G>A c.(1438-1440)cgG>cgA p.R480R TRIM55_ENST00000276573.7_Silent_p.R480R|TRIM55_ENST00000353317.5_Intron|TRIM55_ENST00000350034.4_Intron NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 480 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) CGAATGTACGGAAGGCAGAAG 0.572000 5 36 0 0 0.000157383 0 0 ASB7 140460 broad.mit.edu 37 15 101169997 101169997 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr15:101169997C>T ENST00000332783.7 + 5 1352 c.567C>T c.(565-567)atC>atT p.I189I ASB7_ENST00000558747.1_Intron|ASB7_ENST00000343276.4_Silent_p.I189I NM_198243.2 NP_937886.1 Q9H672 ASB7_HUMAN ankyrin repeat and SOCS box containing 7 189 intracellular signal transduction breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2) 16 Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) ACGCCGTGATCAAAAGCAATC 0.483000 5 32 0 0 0.00116845 0 0 CYB5R4 51167 broad.mit.edu 37 6 84627781 84627781 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:84627781C>T ENST00000369681.4 + 6 643 c.503C>T c.(502-504)cCa>cTa p.P168L NM_016230.3 NP_057314.2 Q7L1T6 NB5R4_HUMAN cytochrome b5 reductase 4 168 CS. cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process endoplasmic reticulum|perinuclear region of cytoplasm cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity p.P168>?(1) breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128) BRCA - Breast invasive adenocarcinoma(397;0.0871) CCTAGTTATCCAAGGTATGCA 0.303000 9 82 0 0 0.000442599 0 0 NOX3 50508 broad.mit.edu 37 6 155774584 155774584 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:155774584G>A ENST00000159060.2 - 4 396 c.294C>T c.(292-294)aaC>aaT p.N98N NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 98 Ferric oxidoreductase. electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) GAAATCTGAGGTTTTTGTCTA 0.368000 26 269 0 0 0.00106085 0 0 OR5H2 79310 broad.mit.edu 37 3 98002486 98002486 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr3:98002486C>T ENST00000355273.2 + 1 755 c.755C>T c.(754-756)tCt>tTt p.S252F RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 252 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 CATCTCTTATCTGTCTCTTTA 0.393000 8 46 0 0 0.000442599 0 0 ALPP 250 broad.mit.edu 37 2 233245442 233245442 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:233245442C>T ENST00000392027.2 + 8 1244 c.975C>T c.(973-975)ccC>ccT p.P325P AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 325 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) GCAGGAACCCCCGCGGCTTCT 0.647000 5 61 0 0 0.000157383 0 0 HMGB2 3148 broad.mit.edu 37 4 174253977 174253977 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr4:174253977C>T ENST00000296503.5 - 4 1339 c.466G>A c.(466-468)Gaa>Aaa p.E156K HMGB2_ENST00000446922.2_Missense_Mutation_p.E156K|HMGB2_ENST00000438704.2_Missense_Mutation_p.E156K P26583 HMGB2_HUMAN high mobility group box 2 156 base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) TGTACCTTTTCATATTTCTCC 0.363000 11 173 0 0 0.000978159 0 0 TTN 7273 broad.mit.edu 37 2 179413377 179413377 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:179413377C>T ENST00000589042.1 - 339 93200 c.92976G>A c.(92974-92976)ggG>ggA p.G30992G TTN_ENST00000460472.2_Silent_p.G21927G|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.G22119G|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.G29351G|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.G22052G|TTN_ENST00000342992.6_Silent_p.G28424G|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29351 Fibronectin type-III 126. 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) GGGTATATTTCCCTGCATCAT 0.468000 15 114 0 0 0.000422831 0 0 NKAPL 222698 broad.mit.edu 37 6 28227579 28227579 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:28227579C>T ENST00000343684.3 + 1 482 c.430C>T c.(430-432)Cct>Tct p.P144S NM_001007531.1 NP_001007532.1 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 144 breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 TCCAAAGTTCCCTCAGCTAGA 0.517000 19 145 0 0 0.00152264 0 0 EFCAB3 146779 broad.mit.edu 37 17 60472490 60472490 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr17:60472490C>T ENST00000450662.2 + 8 656 c.585C>T c.(583-585)atC>atT p.I195I EFCAB3_ENST00000305286.3_Silent_p.I143I NM_001144933.1 NP_001138405.1 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 143 calcium ion binding cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) TGTTTGAAATCCTATCAAGGC 0.388000 21 119 0 0 0.000720815 0 0 OR8H1 219469 broad.mit.edu 37 11 56058290 56058290 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:56058290C>T ENST00000313022.2 - 1 276 c.249G>A c.(247-249)gcG>gcA p.A83A NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) TCAGTAAGTTCGCTAAGGTTT 0.418000 18 231 0 0 0.00152264 0 0 OR2L3 391192 broad.mit.edu 37 1 248224258 248224258 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:248224258C>T ENST00000359959.3 + 1 275 c.275C>T c.(274-276)tCc>tTc p.S92F OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) AAGTCTATCTCCTTCACTGGG 0.423000 17 186 0 0 0.00152264 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104961396 104961396 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chrX:104961396G>A ENST00000372582.1 + 7 1565 c.809G>A c.(808-810)gGa>gAa p.G270E IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.G270E NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 270 Ig-like C2-type 3. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GCATTCTTCGGATTCAGTGGA 0.433000 15 55 0 0 0.000308642 0 0 HEY1 23462 broad.mit.edu 37 8 80677781 80677781 + Missense_Mutation SNP T T C TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr8:80677781T>C ENST00000337919.5 - 5 762 c.569A>G c.(568-570)cAt>cGt p.H190R HEY1_ENST00000435063.2_5'UTR|HEY1_ENST00000354724.3_Missense_Mutation_p.H186R|HEY1_ENST00000523976.1_Missense_Mutation_p.H96R NM_001040708.1 NP_001035798.1 Q9Y5J3 HEY1_HUMAN hes-related family bHLH transcription factor with YRPW motif 1 186 angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent nucleus DNA binding|protein binding HEY1/NCOA2(10) cervix(1)|kidney(2)|large_intestine(5)|lung(14) 22 all_lung(9;5.1e-05) Epithelial(68;0.076)|all cancers(69;0.179) GTGCGGGTGATGTCCGAAGAC 0.692000 T NCOA2 mesenchymal chondrosarcoma OREG0018837 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 24 0 0 0.000602214 0 0 SLC8A3 6547 broad.mit.edu 37 14 70635016 70635016 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr14:70635016C>T ENST00000381269.2 - 2 877 c.124G>A c.(124-126)Ggg>Agg p.G42R SLC8A3_ENST00000528359.1_Missense_Mutation_p.G42R|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G42R|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G42R|SLC8A3_ENST00000356921.2_Missense_Mutation_p.G42R NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 42 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TTGTTCTGCCCTGTGCTTGGC 0.562000 5 20 0 0 0.000602214 0 0 HEPH 9843 broad.mit.edu 37 X 65409626 65409626 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chrX:65409626C>T ENST00000519389.1 + 6 1250 c.1071C>T c.(1069-1071)gtC>gtT p.V357V HEPH_ENST00000419594.1_Silent_p.V306V|HEPH_ENST00000441993.2_Silent_p.V306V|HEPH_ENST00000336279.5_Silent_p.V36V|HEPH_ENST00000374727.3_Silent_p.V306V|HEPH_ENST00000343002.2_Silent_p.V303V Q9BQS7 HEPH_HUMAN hephaestin 303 Plastocyanin-like 2. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 AAATTGATGTCCACACAGCAT 0.478000 7 16 0 0 8.12818e-05 0 0 TDRD5 163589 broad.mit.edu 37 1 179620142 179620142 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:179620142C>T ENST00000444136.1 + 12 2191 c.1941C>T c.(1939-1941)ttC>ttT p.F647F TDRD5_ENST00000367614.1_Silent_p.F647F|TDRD5_ENST00000294848.8_Silent_p.F647F NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 647 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 ATGTCTATTTCCATCATGTCT 0.383000 13 103 0 0 0.00185496 0 0 GRM3 2913 broad.mit.edu 37 7 86468472 86468472 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:86468472G>A ENST00000361669.2 + 4 2741 c.1642G>A c.(1642-1644)Gat>Aat p.D548N GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.D140N|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.D420N NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 548 synaptic transmission integral to plasma membrane p.D548N(1) NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TACCTGTATGGATTGTGGGTC 0.527000 7 88 0 0 0.000274275 0 0 IL1R2 7850 broad.mit.edu 37 2 102626224 102626224 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:102626224G>A ENST00000332549.3 + 3 497 c.268G>A c.(268-270)Gac>Aac p.D90N IL1R2_ENST00000393414.2_Missense_Mutation_p.D90N|IL1R2_ENST00000441002.1_Missense_Mutation_p.D90N NM_004633.3 NP_004624.1 P27930 IL1R2_HUMAN interleukin 1 receptor, type II 90 Ig-like C2-type 1. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) GTGGGCCCAGGACGGTGCTCT 0.597000 14 156 0 0 0.000566183 0 0 KCNJ3 3760 broad.mit.edu 37 2 155555733 155555733 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:155555733G>A ENST00000295101.2 + 1 923 c.446G>A c.(445-447)cGa>cAa p.R149Q KCNJ3_ENST00000544049.1_Missense_Mutation_p.R149Q NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 149 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) TATGGCTACCGATACATCACA 0.557000 7 32 0 0 0.000157383 0 0 KLHDC1 122773 broad.mit.edu 37 14 50199475 50199475 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr14:50199475C>T ENST00000359332.2 + 9 854 c.764C>T c.(763-765)cCt>cTt p.P255L KLHDC1_ENST00000554512.1_3'UTR NM_172193.2 NP_751943.1 Q8N7A1 KLDC1_HUMAN kelch domain containing 1 255 cytoplasm kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 12 all_epithelial(31;0.00244)|Breast(41;0.00964) ACTTTAACACCTATAGCTGAT 0.333000 4 61 0 0 0.000602214 0 0 FBXO9 26268 broad.mit.edu 37 6 52957291 52957291 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:52957291C>T ENST00000244426.6 + 7 920 c.748C>T c.(748-750)Ccg>Tcg p.P250S FBXO9_ENST00000370939.3_Missense_Mutation_p.P206S|FBXO9_ENST00000323557.7_Missense_Mutation_p.P240S NM_012347.4 NP_036479.1 Q9UK97 FBX9_HUMAN F-box protein 9 250 ubiquitin ligase complex ubiquitin-protein ligase activity kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1) 9 Lung NSC(77;0.103) TAAACTTGTTCCGTACACGTC 0.418000 12 125 0 0 0.00185496 0 0 GPR65 8477 broad.mit.edu 37 14 88477602 88477602 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr14:88477602C>T ENST00000267549.3 + 2 969 c.411C>T c.(409-411)tcC>tcT p.S137S RP11-300J18.2_ENST00000554433.1_RNA NM_003608.3 NP_003599.2 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 137 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 TCAGCCTGTCCATCTGGATAT 0.408000 15 127 0 0 0.000422831 0 0 ASXL1 171023 broad.mit.edu 37 20 31022685 31022685 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr20:31022685C>T ENST00000375687.4 + 13 2594 c.2170C>T c.(2170-2172)Ctg>Ttg p.L724L ASXL1_ENST00000306058.5_Silent_p.L719L NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 724 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 CCTGCCTTCTCTGAGAAAGGA 0.562000 """F, N, Mis""" """MDS, CMML""" 4 26 0 0 0.000602214 0 0 WNT7A 7476 broad.mit.edu 37 3 13916511 13916511 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr3:13916511G>A ENST00000285018.4 - 2 535 c.231C>T c.(229-231)ttC>ttT p.F77F WNT7A_ENST00000497808.1_5'UTR NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 77 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 GGCCATTGCGGAACTGAAACT 0.607000 4 39 0 0 0.00116845 0 0 TRIT1 54802 broad.mit.edu 37 1 40312931 40312931 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:40312931G>A ENST00000316891.5 - 8 981 c.967C>T c.(967-969)Cgg>Tgg p.R323W TRIT1_ENST00000372818.1_Intron|TRIT1_ENST00000441669.2_Missense_Mutation_p.R241W|TRIT1_ENST00000545233.1_Missense_Mutation_p.R77W|TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537223.1_Missense_Mutation_p.R19W|TRIT1_ENST00000537440.1_Missense_Mutation_p.R19W NM_017646.4 NP_060116.2 Q9H3H1 MOD5_HUMAN tRNA isopentenyltransferase 1 323 Interaction with substrate tRNA (By similarity). tRNA processing mitochondrion ATP binding|metal ion binding|tRNA dimethylallyltransferase activity breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1) 15 all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TTTTGTTTCCGGGCATATCTC 0.388000 6 49 0 0 0.000157383 0 0 TMEM99 147184 broad.mit.edu 37 17 38991348 38991348 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr17:38991348C>T ENST00000301665.3 + 3 884 c.580C>T c.(580-582)Cat>Tat p.H194Y NM_001195386.1|NM_001195387.1|NM_145274.3 NP_001182315.1|NP_001182316.1|NP_660317.2 Q8N816 TMM99_HUMAN transmembrane protein 99 194 integral to membrane cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1) 10 Breast(137;0.000301) TACTAGTTTTCATGACTTCTG 0.388000 8 63 0 0 0.000157383 0 0 DST 667 broad.mit.edu 37 6 56482993 56482993 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:56482993C>T ENST00000370765.6 - 23 5946 c.5839G>A c.(5839-5841)Gag>Aag p.E1947K DST_ENST00000370754.5_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1344 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) TTCTCTTTCTCGAGTGGAGCC 0.468000 5 48 0 0 0.000602214 0 0 ADCK2 90956 broad.mit.edu 37 7 140373514 140373514 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:140373514C>T ENST00000072869.4 + 1 562 c.384C>T c.(382-384)acC>acT p.T128T ADCK2_ENST00000476491.1_Silent_p.T128T NM_052853.3 NP_443085.2 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 128 integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) GCGTCTCCACCCTCTGGCTCC 0.627000 7 82 0 0 0.000157383 0 0 HLA-DOA 3111 broad.mit.edu 37 6 32974902 32974902 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:32974902C>T ENST00000229829.5 - 4 779 c.704G>A c.(703-705)gGc>gAc p.G235D HLA-DOA_ENST00000450833.2_Intron NM_002119.3 NP_002110.1 P06340 DOA_HUMAN major histocompatibility complex, class II, DO alpha 235 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 9 GAGGACGGTGCCCACGAGGAA 0.627000 8 68 0 0 0.000274275 0 0 STRA6 64220 broad.mit.edu 37 15 74473698 74473698 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr15:74473698G>A ENST00000323940.5 - 17 1867 c.1622C>T c.(1621-1623)gCc>gTc p.A541V STRA6_ENST00000449139.2_Missense_Mutation_p.A541V|STRA6_ENST00000574278.1_Missense_Mutation_p.A556V|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000423167.2_Missense_Mutation_p.A532V|STRA6_ENST00000416286.3_Missense_Mutation_p.A533V|STRA6_ENST00000395105.4_Missense_Mutation_p.A541V|STRA6_ENST00000563965.1_Missense_Mutation_p.A580V|STRA6_ENST00000535552.1_Missense_Mutation_p.A578V NM_001142617.1|NM_001142618.1|NM_001142619.1 NP_001136089.1|NP_001136090.1|NP_001136091.1 Q9BX79 STRA6_HUMAN stimulated by retinoic acid 6 541 adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2) 26 AAGGTGGATGGCGTTGTAGAG 0.632000 4 27 0 0 0.00024832 0 0 DLGAP3 58512 broad.mit.edu 37 1 35369961 35369961 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:35369961C>T ENST00000373347.1 - 3 1292 c.1024G>A c.(1024-1026)Gat>Aat p.D342N DLGAP3_ENST00000235180.4_Missense_Mutation_p.D342N O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 342 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) GGGTATCCATCCCGGCCCTGG 0.622000 8 48 0 0 0.000157383 0 0 ZNF280A 129025 broad.mit.edu 37 22 22868747 22868747 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr22:22868747G>A ENST00000302097.3 - 2 1460 c.1208C>T c.(1207-1209)tCg>tTg p.S403L NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 403 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) AAAGACCGACGATCTGTAATG 0.408000 7 88 0 0 0.000157383 0 0 OVGP1 5016 broad.mit.edu 37 1 111957374 111957374 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:111957374G>A ENST00000369732.3 - 11 1804 c.1749C>T c.(1747-1749)gtC>gtT p.V583V NM_002557.3 NP_002548.3 Q12889 OVGP1_HUMAN oviductal glycoprotein 1, 120kDa 583 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) CTTCAGGGGTGACTGATATGT 0.517000 14 82 0 0 0.000219431 0 0 C4orf21 55345 broad.mit.edu 37 4 113524759 113524759 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr4:113524759G>A ENST00000505019.1 - 10 3022 c.2897C>T c.(2896-2898)cCa>cTa p.P966L C4orf21_ENST00000309071.5_Missense_Mutation_p.P966L NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 966 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) AGTGCTATCTGGAAACTGACT 0.413000 7 80 0 0 0.000157383 0 0 UNC13C 440279 broad.mit.edu 37 15 54305845 54305845 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr15:54305845G>A ENST00000545554.1 + 1 745 c.745G>A c.(745-747)Gaa>Aaa p.E249K UNC13C_ENST00000537900.1_Missense_Mutation_p.E249K|UNC13C_ENST00000260323.11_Missense_Mutation_p.E249K Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 249 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GATCTTTAAGGAACTTCAGGG 0.468000 14 51 0 0 0.000219431 0 0 GTF2H4 2968 broad.mit.edu 37 6 30880155 30880155 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:30880155C>T ENST00000259895.4 + 11 1232 c.1009C>T c.(1009-1011)Cgg>Tgg p.R337W GTF2H4_ENST00000376316.2_Missense_Mutation_p.R337W NM_001517.4 NP_001508.1 Q92759 TF2H4_HUMAN general transcription factor IIH, polypeptide 4, 52kDa 337 R -> Q (in dbSNP:rs3218820). mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GATGCTCTATCGGTTCCCCAA 0.597000 Nucleotide excision repair (NER) 9 80 0 0 0.000978159 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44798971 44798971 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:44798971C>T ENST00000309315.4 + 7 1028 c.905C>T c.(904-906)tCc>tTc p.S302F ZMIZ2_ENST00000441627.1_Missense_Mutation_p.S302F|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.S302F|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.S270F|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.S270F NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 302 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CCTGCCCCCTCCCCTTCCTAC 0.652000 8 38 0 0 0.000274275 0 0 R3HDM1 23518 broad.mit.edu 37 2 136393490 136393490 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:136393490G>A ENST00000264160.4 + 10 1099 c.729G>A c.(727-729)aaG>aaA p.K243K R3HDM1_ENST00000409478.1_Silent_p.K199K|R3HDM1_ENST00000329971.3_Silent_p.K199K|R3HDM1_ENST00000410054.1_Silent_p.K187K|R3HDM1_ENST00000409606.1_Silent_p.K243K NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 243 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) AACATATTAAGGATGATAAAG 0.299000 20 160 0 0 0.000375601 0 0 CRYZL1 9946 broad.mit.edu 37 21 34975835 34975835 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr21:34975835G>A ENST00000361534.2 - 8 551 c.412C>T c.(412-414)Cca>Tca p.P138S CRYZL1_ENST00000381540.3_Missense_Mutation_p.P114S|CRYZL1_ENST00000381554.3_Missense_Mutation_p.P114S|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000445393.1_Missense_Mutation_p.P76S|CRYZL1_ENST00000290244.5_Missense_Mutation_p.P99S O95825 QORL1_HUMAN crystallin, zeta (quinone reductase)-like 1 114 quinone cofactor metabolic process cytosol NADP binding|NADPH:quinone reductase activity|zinc ion binding lung(1)|prostate(1)|urinary_tract(1) 3 ACCTTTTCTGGTTTATGAACT 0.433000 7 50 0 0 0.000157383 0 0 LYZL1 84569 broad.mit.edu 37 10 29599964 29599964 + Nonsense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr10:29599964G>A ENST00000375500.3 + 5 618 c.561G>A c.(559-561)tgG>tgA p.W187* NM_032517.4 NP_115906.3 Q6UWQ5 LYZL1_HUMAN lysozyme-like 1 141 cell wall macromolecule catabolic process extracellular region lysozyme activity central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1) 11 Breast(68;0.203) TGTCCGAGTGGAAAAAAGGCT 0.507000 13 142 0 0 0.000219431 0 0 BMS1P20 96610 broad.mit.edu 37 22 22657653 22657653 + RNA SNP C C A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr22:22657653C>A ENST00000426066.1 + 0 65 NR_027293.1 AATCGGGCCCCGATACTCAGG 0.498000 4 27 0.000602214 0.00305084 0.000602214 1 0 POLR2G 5436 broad.mit.edu 37 11 62532814 62532814 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:62532814C>T ENST00000301788.7 + 5 441 c.336C>T c.(334-336)tcC>tcT p.S112S NM_002696.2 NP_002687.1 P62487 RPB7_HUMAN polymerase (RNA) II (DNA directed) polypeptide G 112 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|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-directed RNA polymerase activity|protein binding|RNA binding lung(3) 3 CCTTTCAGTCCATCCCTTCAG 0.463000 22 181 0 0 0.000878237 0 0 ANKRD50 57182 broad.mit.edu 37 4 125590863 125590863 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr4:125590863G>A ENST00000504087.1 - 4 4606 c.3569C>T c.(3568-3570)tCa>tTa p.S1190L ANKRD50_ENST00000515641.1_Missense_Mutation_p.S1011L NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 1190 Ser-rich. NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 TCTCAAAGATGAATTTTTTGA 0.383000 21 83 0 0 0.00121646 0 0 HABP2 3026 broad.mit.edu 37 10 115337887 115337887 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr10:115337887G>A ENST00000351270.3 + 6 647 c.551G>A c.(550-552)gGg>gAg p.G184E HABP2_ENST00000537906.1_Missense_Mutation_p.G173R|HABP2_ENST00000541666.1_Missense_Mutation_p.G184E|HABP2_ENST00000542051.1_Missense_Mutation_p.G158E NM_004132.3 NP_004123.1 Q14520 HABP2_HUMAN hyaluronan binding protein 2 184 EGF-like 3. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) CAGTTCAAGGGGAAATTCTGT 0.547000 14 51 0 0 0.00074312 0 0 GRIK5 2901 broad.mit.edu 37 19 42546759 42546759 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr19:42546759C>T ENST00000262895.3 - 11 1417 c.1418G>A c.(1417-1419)gGg>gAg p.G473E GRIK5_ENST00000593562.1_Missense_Mutation_p.G473E|GRIK5_ENST00000301218.4_Missense_Mutation_p.G473E NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 473 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) CTCGGGCGCCCCGTACAGCCC 0.672000 4 49 0 0 0.00116845 0 0 NACA2 342538 broad.mit.edu 37 17 59668330 59668330 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr17:59668330C>T ENST00000521764.1 - 1 233 c.212G>A c.(211-213)cGg>cAg p.R71Q NM_199290.3 NP_954984.1 Q9H009 NACA2_HUMAN nascent polypeptide-associated complex alpha subunit 2 71 NAC-A/B. protein transport cytoplasm|nucleus large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 12 all_epithelial(1;3.12e-14) CTTTTCACTCCGACTCTGTTT 0.458000 22 169 0 0 0.000295444 0 0 VHLL 391104 broad.mit.edu 37 1 156268578 156268578 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:156268578G>A ENST00000339922.3 - 1 850 c.403C>T c.(403-405)Ctg>Ttg p.L135L NM_001004319.2 NP_001004319.1 Q6RSH7 VHLL_HUMAN von Hippel-Lindau tumor suppressor-like 135 Beta-domain. protein ubiquitination nucleus endometrium(1)|lung(2)|ovary(1) 4 Hepatocellular(266;0.158) ATACACTGCAGTGTGATGTTG 0.453000 16 123 0 0 0.00074312 0 0 OR4N2 390429 broad.mit.edu 37 14 20295781 20295781 + Silent SNP C C T rs141509885 byFrequency TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr14:20295781C>T ENST00000568211.1 + 1 174 c.174C>T c.(172-174)ccC>ccT p.P58P OR4N2_ENST00000315947.1_Silent_p.P58P Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P58P(1) 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) TCACAGCCCCCCTCTATTTCT 0.463000 26 217 0 0 0.000878237 0 0 DNAH9 1770 broad.mit.edu 37 17 11660968 11660968 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr17:11660968C>T ENST00000262442.3 + 35 7022 c.6954C>T c.(6952-6954)ttC>ttT p.F2318F DNAH9_ENST00000454412.2_Silent_p.F2318F NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2318 AAA 2 (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) CCATTTTGTTCGACAAGTATC 0.473000 11 42 0 0 0.000219431 0 0 OR1Q1 158131 broad.mit.edu 37 9 125377721 125377721 + Nonsense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr9:125377721G>A ENST00000297913.2 + 1 774 c.705G>A c.(703-705)tgG>tgA p.W235* RP11-64P14.7_ENST00000431442.1_RNA NM_012364.1 NP_036496.1 Q15612 OR1Q1_HUMAN olfactory receptor, family 1, subfamily Q, member 1 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.W235*(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 AGGGCAGGTGGAAAACCTTTT 0.552000 14 70 0 0 0.00185496 0 0 EYA1 2138 broad.mit.edu 37 8 72123391 72123391 + Splice_Site SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr8:72123391C>T ENST00000340726.3 - 17 2337 c.1698_splice c.e17+1 p.K566_splice EYA1_ENST00000388740.3_Splice_Site_p.K533_splice|EYA1_ENST00000388743.2_Splice_Site_p.K565_splice|EYA1_ENST00000303824.7_Splice_Site_p.K560_splice|EYA1_ENST00000388742.4_Splice_Site_p.K566_splice|EYA1_ENST00000388741.2_Splice_Site_p.K532_splice|EYA1_ENST00000419131.1_Splice_Site_p.K531_splice NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 566 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) GAATGCTCACCTTTTTTGCTC 0.358000 5 85 0 0 8.12818e-05 0 0 EEF2K 29904 broad.mit.edu 37 16 22285017 22285017 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr16:22285017C>T ENST00000263026.5 + 16 2309 c.1835C>T c.(1834-1836)tCc>tTc p.S612F NM_013302.3 NP_037434.1 O00418 EF2K_HUMAN eukaryotic elongation factor-2 kinase 612 Pseudosubstrate/autoinhibitory domain (Potential). insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(48;0.0223) GACAGGCAGTCCATGATCCTA 0.527000 10 42 0 0 0.000442599 0 0 STAC 6769 broad.mit.edu 37 3 36534657 36534657 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr3:36534657G>A ENST00000273183.3 + 6 1002 c.702G>A c.(700-702)gtG>gtA p.V234V STAC_ENST00000457375.2_Silent_p.V173V|STAC_ENST00000476388.1_3'UTR NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain 234 intracellular signal transduction cytoplasm|soluble fraction metal ion binding endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 CAGATCTTGTGGAGGTTCCTG 0.483000 7 88 0 0 0.000157383 0 0 UGP2 7360 broad.mit.edu 37 2 64085049 64085049 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:64085049C>T ENST00000337130.5 + 3 710 c.234C>T c.(232-234)atC>atT p.I78I UGP2_ENST00000487469.1_Intron|UGP2_ENST00000467648.2_Silent_p.I67I|UGP2_ENST00000445915.2_Silent_p.I87I|UGP2_ENST00000394417.2_Silent_p.I67I NM_006759.3 NP_006750.3 Q16851 UGPA_HUMAN UDP-glucose pyrophosphorylase 2 78 glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1) 18 GGGGAAAAATCCAGAGACCCC 0.408000 9 193 0 0 0.000274275 0 0 OSM 5008 broad.mit.edu 37 22 30659972 30659972 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr22:30659972C>T ENST00000215781.2 - 3 699 c.659G>A c.(658-660)cGg>cAg p.R220Q OSM_ENST00000403389.1_Missense_Mutation_p.R199Q NM_020530.4 NP_065391.1 P13725 ONCM_HUMAN oncostatin M 220 cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth extracellular space|oncostatin-M receptor complex cytokine activity|growth factor activity|oncostatin-M receptor binding breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3) 11 Epithelial(10;0.206) GCTGTGTCTCCGGCTCCGGTT 0.657000 7 53 0 0 0.000274275 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69046428 69046428 + Missense_Mutation SNP A A G TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:69046428A>G ENST00000295381.3 + 9 1593 c.1174A>G c.(1174-1176)Agg>Ggg p.R392G ARHGAP25_ENST00000467265.1_Missense_Mutation_p.R353G|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R393G|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.R86G|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.R386G|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R386G|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.R385G NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 392 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 CCGAATTTCTAGGACAGACAG 0.537000 5 65 0 0 0.000602214 0 0 ADAM30 11085 broad.mit.edu 37 1 120437452 120437452 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:120437452C>T ENST00000369400.1 - 1 1666 c.1508G>A c.(1507-1509)aGa>aAa p.R503K NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 503 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) CTGCATATATCTGGATCTGCA 0.458000 52 450 0 0 0.000781405 0 0 DNAH2 146754 broad.mit.edu 37 17 7722089 7722089 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr17:7722089C>T ENST00000572933.1 + 70 12125 c.10665C>T c.(10663-10665)atC>atT p.I3555I DNAH2_ENST00000389173.2_Silent_p.I3555I Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3555 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AGGATGAGATCCTGCGGTGAG 0.632000 6 38 0 0 0.00116845 0 0 STAT3 6774 broad.mit.edu 37 17 40467771 40467771 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr17:40467771G>A ENST00000264657.5 - 24 2617 c.2305C>T c.(2305-2307)Ccc>Tcc p.P769S STAT3_ENST00000588969.1_Missense_Mutation_p.P769S|STAT3_ENST00000585517.1_3'UTR|STAT3_ENST00000404395.3_Missense_Mutation_p.P768S|STAT3_ENST00000389272.3_Missense_Mutation_p.P671S NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 769 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) CCTCACATGGGGGAGGTAGCG 0.557000 Hyperimmunoglobulin E Recurrent Infection Syndrome 8 56 0 0 0.000274275 0 0 MICAL1 64780 broad.mit.edu 37 6 109773593 109773593 + Nonsense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:109773593G>A ENST00000368952.4 - 6 1035 c.745C>T c.(745-747)Cga>Tga p.R249* MICAL1_ENST00000358807.3_Nonsense_Mutation_p.R230*|MICAL1_ENST00000358577.3_Nonsense_Mutation_p.R230*|MICAL1_ENST00000483856.1_5'UTR Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 230 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) CGCATTTCTCGAACTTTGAAG 0.537000 10 96 0 0 0.000442599 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84651976 84651976 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr15:84651976G>A ENST00000286744.5 + 21 3820 c.3596G>A c.(3595-3597)gGa>gAa p.G1199E ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G1199E NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 1199 Ig-like C2-type 2. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) TCCAGGATTGGAAATACAGTA 0.413000 20 135 0 0 0.00121646 0 0 OR10W1 81341 broad.mit.edu 37 11 58035019 58035019 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:58035019G>A ENST00000395079.2 - 1 713 c.312C>T c.(310-312)ttC>ttT p.F104F NM_207374.3 NP_997257.2 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, member 1 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1) 26 Breast(21;0.0589) CAGCCAAGAGGAAGCAATCAG 0.537000 9 46 0 0 0.000673444 0 0 IL36B 27177 broad.mit.edu 37 2 113783768 113783768 + Nonsense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:113783768C>T ENST00000259213.4 - 5 410 c.303G>A c.(301-303)tgG>tgA p.W101* NM_014438.3 NP_055253.2 Q9NZH7 IL36B_HUMAN interleukin 36, beta 101 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 caactagtttccagcaagtgt 0.468000 6 64 0 0 0.00116845 0 0 UGT3A2 167127 broad.mit.edu 37 5 36049295 36049295 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr5:36049295G>A ENST00000282507.3 - 4 640 c.539C>T c.(538-540)cCc>cTc p.P180L UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.P146L NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 180 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATAAGACAAGGGGATTGGTAG 0.458000 9 34 0 0 0.000274275 0 0 UBAC2 337867 broad.mit.edu 37 13 100020041 100020041 + Splice_Site SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr13:100020041G>A ENST00000376440.2 + 6 1206 c.702_splice c.e6-1 p.G235_splice UBAC2_ENST00000460562.1_3'UTR|UBAC2_ENST00000403766.3_Splice_Site_p.G270_splice NM_177967.3 NP_808882.1 Q8NBM4 UBAC2_HUMAN UBA domain containing 2 270 integral to membrane breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2) 10 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CTCTTTTTAGGGAGGAATGAT 0.458000 9 72 0 0 0.000274275 0 0 C14orf39 317761 broad.mit.edu 37 14 60921826 60921826 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr14:60921826C>T ENST00000321731.3 - 16 1555 c.1396G>A c.(1396-1398)Gaa>Aaa p.E466K NM_174978.2 NP_777638.2 Q08AQ4 Q08AQ4_HUMAN chromosome 14 open reading frame 39 466 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(108;0.0448) GATTCCTTTTCTGTTTGAACT 0.299000 5 67 0 0 8.12818e-05 0 0 NPAS4 266743 broad.mit.edu 37 11 66191942 66191942 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:66191942C>T ENST00000311034.2 + 7 1757 c.1581C>T c.(1579-1581)gcC>gcT p.A527A NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 527 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 GCAGCCCTGCCCATGAACAGC 0.592000 12 137 0 0 0.000219431 0 0 WIF1 11197 broad.mit.edu 37 12 65514233 65514233 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr12:65514233G>A ENST00000286574.4 - 2 626 c.252C>T c.(250-252)atC>atT p.I84I NM_007191.4 NP_009122.2 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 84 WIF. multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) TCATGGAATGGATATTGACAG 0.403000 T HMGA2 pleomorphic salivary gland adenoma 15 109 0 0 0.000219431 0 0 DSCAML1 57453 broad.mit.edu 37 11 117651359 117651359 + Silent SNP C C A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:117651359C>A ENST00000321322.6 - 2 394 c.393G>T c.(391-393)ccG>ccT p.P131P DSCAML1_ENST00000527706.1_Intron NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 71 Ig-like C2-type 2. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GCCGGATGTGCGGCACGTCGT 0.667000 7 104 0.000157383 0.000798817 0.000157383 1 0 ME1 4199 broad.mit.edu 37 6 84117513 84117513 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:84117513G>A ENST00000369705.3 - 2 302 c.186C>T c.(184-186)ttC>ttT p.F62F ME1_ENST00000541327.1_Intron|ME1_ENST00000543031.1_Intron NM_002395.4 NP_002386.1 P48163 MAOX_HUMAN malic enzyme 1, NADP(+)-dependent, cytosolic 62 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) TCAGATGCTCGAAATTTTTTA 0.383000 11 99 0 0 0.00136819 0 0 LUZP4 51213 broad.mit.edu 37 X 114540930 114540930 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chrX:114540930G>A ENST00000371920.3 + 4 510 c.503G>A c.(502-504)aGa>aAa p.R168K LUZP4_ENST00000451986.2_Missense_Mutation_p.R86K NM_016383.3 NP_057467.1 Q9P127 LUZP4_HUMAN leucine zipper protein 4 168 nucleus endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 14 CACTTAGAGAGATCTCTTTCT 0.443000 16 43 0 0 0.000308642 0 0 STEAP1B 256227 broad.mit.edu 37 7 22533211 22533211 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:22533211G>A ENST00000404369.4 - 3 744 c.329C>T c.(328-330)cCa>cTa p.P110L STEAP1B_ENST00000406890.2_Missense_Mutation_p.P91L NM_001164460.1 NP_001157932.1 Q6NZ63 STEAL_HUMAN STEAP family member 1B 91 integral to membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity endometrium(1)|kidney(1)|lung(2) 4 GACCAGGATTGGAATTTTATA 0.388000 7 41 0 0 0.000274275 0 0 GLYATL1 92292 broad.mit.edu 37 11 58714518 58714518 + Splice_Site SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:58714518G>A ENST00000300079.5 + 3 198 c.e3-1 GLYATL1_ENST00000317391.4_Splice_Site|RP11-142C4.6_ENST00000533954.1_RNA NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) TATCTTTTCAGAGTTTCTTCT 0.388000 6 60 0 0 8.12818e-05 0 0 TTN 7273 broad.mit.edu 37 2 179596793 179596793 + Splice_Site SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:179596793C>T ENST00000589042.1 - 57 17127 c.16903_splice c.e57+1 p.E5635_splice TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Splice_Site_p.E5318_splice|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Splice_Site_p.E4391_splice|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5318 Ig-like 37. 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) GAACACAAACCTTTGACTATT 0.453000 15 152 0 0 0.000422831 0 0 TAS2R38 5726 broad.mit.edu 37 7 141673246 141673246 + Nonsense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:141673246G>A ENST00000547270.1 - 1 327 c.244C>T c.(244-246)Cag>Tag p.Q82* NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 82 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) CTCAACTTCTGGAAGTGGGTA 0.527000 18 136 0 0 0.00188189 0 0 NPY1R 4886 broad.mit.edu 37 4 164246583 164246583 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr4:164246583G>A ENST00000296533.2 - 3 1558 c.1027C>T c.(1027-1029)Cgg>Tgg p.R343W NPY1R_ENST00000509586.1_Missense_Mutation_p.R100W NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 343 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding p.R343W(1) breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TCATCATCCCGAGACCGGAAA 0.393000 6 90 0 0 0.00116845 0 0 ADAM20 8748 broad.mit.edu 37 14 70990201 70990201 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr14:70990201G>A ENST00000256389.3 - 2 1668 c.1424C>T c.(1423-1425)aCc>aTc p.T475I RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 425 Disintegrin. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) CTGCCGTATGGTTCCACAGTC 0.433000 22 120 0 0 0.000586117 0 0 SULF1 23213 broad.mit.edu 37 8 70536203 70536203 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr8:70536203C>T ENST00000260128.4 + 15 2338 c.1621C>T c.(1621-1623)Cgg>Tgg p.R541W SULF1_ENST00000419716.3_Missense_Mutation_p.R541W|SULF1_ENST00000402687.4_Missense_Mutation_p.R541W|SULF1_ENST00000458141.2_Missense_Mutation_p.R541W|SULF1_ENST00000521946.1_3'UTR NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 541 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TGTCCATACTCGGCAGACACG 0.413000 9 72 0 0 0.000673444 0 0 HAX1 10456 broad.mit.edu 37 1 154245824 154245824 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:154245824C>T ENST00000328703.7 + 2 279 c.66C>T c.(64-66)ccC>ccT p.P22P HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_Silent_p.P22P|HAX1_ENST00000532105.1_Intron NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 22 Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) ACAGAGATCCCTTTTTTGGAG 0.493000 Kostmann syndrome 13 74 0 0 0.000219431 0 0 SPHKAP 80309 broad.mit.edu 37 2 228886589 228886589 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:228886589G>A ENST00000392056.3 - 6 581 c.535C>T c.(535-537)Ctg>Ttg p.L179L SPHKAP_ENST00000344657.5_Silent_p.L179L NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 179 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) AGACCAATCAGAAATTTGTTG 0.458000 9 57 0 0 0.000673444 0 0 PCOLCE 5118 broad.mit.edu 37 7 100200087 100200087 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:100200087C>T ENST00000223061.5 + 1 288 c.8C>T c.(7-9)cCt>cTt p.P3L PCOLCE_ENST00000496269.1_3'UTR|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA NM_002593.3 NP_002584.2 Q15113 PCOC1_HUMAN procollagen C-endopeptidase enhancer 3 multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GCCATGCTGCCTGCAGCCACA 0.652000 5 39 0 0 0.000602214 0 0 AHNAK2 113146 broad.mit.edu 37 14 105415514 105415514 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr14:105415514C>T ENST00000333244.5 - 7 6393 c.6274G>A c.(6274-6276)Gac>Aac p.D2092N AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2092 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCCTTGATGTCCACCTGGGGG 0.617000 16 55 0 0 0.000422831 0 0 PRDM9 56979 broad.mit.edu 37 5 23524491 23524491 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr5:23524491C>T ENST00000296682.3 + 10 1181 c.999C>T c.(997-999)ttC>ttT p.F333F NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 333 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 TGGTGGCCTTCCAGTACCACA 0.537000 HNSCC(3;0.000094) 6 40 0 0 0.000274275 0 0 CMAS 55907 broad.mit.edu 37 12 22199428 22199428 + Missense_Mutation SNP A A G TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr12:22199428A>G ENST00000229329.2 + 1 321 c.191A>G c.(190-192)aAg>aGg p.K64R NM_018686.4 NP_061156.1 Q8NFW8 NEUA_HUMAN cytidine monophosphate N-acetylneuraminic acid synthetase 64 lipopolysaccharide biosynthetic process nucleus N-acylneuraminate cytidylyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 24 AAGAACATTAAGCACCTGGCG 0.692000 3 14 0 0 6.4e-05 0 0 CDCP1 64866 broad.mit.edu 37 3 45135052 45135052 + Nonsense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr3:45135052C>T ENST00000296129.1 - 6 1478 c.1344G>A c.(1342-1344)tgG>tgA p.W448* NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 448 CUB. extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) CCAGCAGCTTCCAGGAGAAGT 0.597000 9 68 0 0 0.000442599 0 0 NDUFV3 4731 broad.mit.edu 37 21 44323701 44323701 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr21:44323701C>T ENST00000354250.2 + 3 648 c.579C>T c.(577-579)tcC>tcT p.S193S NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR NM_021075.3 NP_066553.3 P56181 NDUV3_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa 24 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I|nucleus NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 10 STAD - Stomach adenocarcinoma(101;0.0606) NADH(DB00157) CCTCTCATTCCTTTGAAAACA 0.517000 9 82 0 0 0.000442599 0 0 CFAP54 144535 broad.mit.edu 37 12 97147664 97147664 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr12:97147664C>T ENST00000524981.3 + 23 3181 c.3181C>T c.(3181-3183)Ctt>Ttt p.L1061F Q6ZTY8 CL063_HUMAN 1035 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 AGCTGAAATCCTTTTTCAGAA 0.423000 6 47 0 0 0.00116845 0 0 LPPR2 64748 broad.mit.edu 37 19 11468409 11468409 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr19:11468409C>T ENST00000251473.5 + 3 436 c.60C>T c.(58-60)ttC>ttT p.F20F DKFZP761J1410_ENST00000591608.1_Silent_p.F20F|DKFZP761J1410_ENST00000586431.1_3'UTR NM_001170635.1|NM_022737.2 NP_001164106.1|NP_073574.2 GCTTTGTCTTCGTGGAGGTGA 0.582000 4 16 0 0 8.12818e-05 0 0 COL4A4 1286 broad.mit.edu 37 2 227967551 227967551 + Missense_Mutation SNP A A G TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:227967551A>G ENST00000396625.3 - 15 1091 c.884T>C c.(883-885)aTt>aCt p.I295T COL4A4_ENST00000329662.7_Missense_Mutation_p.I295T NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 295 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TTTTGCCCCAATACCAGATTC 0.383000 19 143 0 0 0.000375601 0 0 RNF133 168433 broad.mit.edu 37 7 122338646 122338646 + Silent SNP A A G TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:122338646A>G ENST00000340112.2 - 1 564 c.327T>C c.(325-327)ggT>ggC p.G109G CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron NM_139175.1 NP_631914.1 Q8WVZ7 RN133_HUMAN ring finger protein 133 109 PA. endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 TGAAGGTACAACCTCCCCGTT 0.463000 11 117 0 0 0.00136819 0 0 KCNH5 27133 broad.mit.edu 37 14 63174561 63174561 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr14:63174561C>T ENST00000322893.7 - 11 2900 c.2632G>A c.(2632-2634)Gct>Act p.A878T KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 878 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) GCCTCCCCAGCCTTATCCAAA 0.502000 9 72 0 0 0.000442599 0 0 SLC38A11 151258 broad.mit.edu 37 2 165793875 165793875 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:165793875G>A ENST00000303735.4 - 5 698 c.368C>T c.(367-369)tCa>tTa p.S123L SLC38A11_ENST00000409662.1_Missense_Mutation_p.S145L|SLC38A11_ENST00000409149.3_Missense_Mutation_p.S145L|SLC38A11_ENST00000493887.1_5'UTR|SLC38A11_ENST00000409058.1_Missense_Mutation_p.S176L NM_173512.2 NP_775783.1 Q08AI6 S38AB_HUMAN solute carrier family 38, member 11 145 amino acid transport|sodium ion transport integral to membrane endometrium(2)|large_intestine(4)|lung(8)|ovary(1) 15 TGGACCCAGTGAAATTGCCCT 0.358000 14 117 0 0 0.00074312 0 0 CCDC3 83643 broad.mit.edu 37 10 12940532 12940532 + Missense_Mutation SNP T T G TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr10:12940532T>G ENST00000378839.1 - 7 1274 c.322A>C c.(322-324)Aag>Cag p.K108Q CCDC3_ENST00000378825.3_Missense_Mutation_p.K233Q Q9BQI4 CCDC3_HUMAN coiled-coil domain containing 3 233 endoplasmic reticulum|extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2) 11 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(52;0.163) CGGCCCTTCTTACGCGCCTGC 0.667000 5 49 0 0 0.000602214 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22306590 22306590 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:22306590C>T ENST00000344041.6 - 7 642 c.330G>A c.(328-330)agG>agA p.R110R RAPGEF5_ENST00000475788.1_5'UTR|RAPGEF5_ENST00000405243.1_Silent_p.R263R NM_012294.3 NP_036426.3 Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 0 N-terminal Ras-GEF. nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 TACCAGACTTCCTTGCTTTCA 0.393000 13 62 0 0 0.00185496 0 0 AC015849.16 0 broad.mit.edu 37 17 34236586 34236586 + RNA SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr17:34236586G>A ENST00000587132.1 - 0 1441 CAGGTCCAAAGGTTGAAGTGT 0.468000 3 9 0 0 6.4e-05 0 0 C2CD3 26005 broad.mit.edu 37 11 73748620 73748620 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:73748620G>A ENST00000334126.7 - 30 6010 c.5784C>T c.(5782-5784)gaC>gaT p.D1928D C2CD3_ENST00000313663.7_Silent_p.D1928D Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1928 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) GCCCAAGATGGTCCCTACAGC 0.552000 17 83 0 0 0.000566183 0 0 FCRL4 83417 broad.mit.edu 37 1 157556203 157556203 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:157556203C>T ENST00000271532.1 - 6 1025 c.890G>A c.(889-891)gGg>gAg p.G297E FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 297 Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) AGCCTGGCCCCCTGAGGGCTG 0.612000 5 45 0 0 0.000157383 0 0 CYP2B7P 1556 broad.mit.edu 37 19 41430298 41430298 + RNA SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr19:41430298G>A ENST00000599198.1 + 0 175 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 GCCCCTTTTGGGGAACCTTCT 0.577000 8 60 0 0 0.000274275 0 0 C1orf173 127254 broad.mit.edu 37 1 75036989 75036989 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:75036989C>T ENST00000326665.5 - 14 4623 c.4405G>A c.(4405-4407)Gga>Aga p.G1469R C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1469 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCAGCTGCTCCTGTCTCCTGC 0.582000 10 96 0 0 0.00136819 0 0 KCNH5 27133 broad.mit.edu 37 14 63174974 63174974 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr14:63174974G>A ENST00000322893.7 - 11 2487 c.2219C>T c.(2218-2220)tCc>tTc p.S740F KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 740 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) ATTCTGTAAGGAGCGGCTCTC 0.532000 9 71 0 0 0.000274275 0 0 CDH23 64072 broad.mit.edu 37 10 73406336 73406336 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr10:73406336G>A ENST00000224721.6 + 13 1431 c.1426G>A c.(1426-1428)Gag>Aag p.E476K CDH23_ENST00000299366.7_Missense_Mutation_p.E516K|CDH23_ENST00000461841.3_Missense_Mutation_p.E516K|CDH23_ENST00000398842.3_Missense_Mutation_p.E471K|CDH23_ENST00000398809.4_Missense_Mutation_p.E471K NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 471 Cadherin 5. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CAGCCTGTACGAGAACGTCAC 0.582000 11 98 0 0 0.00136819 0 0 FPR1 2357 broad.mit.edu 37 19 52249706 52249706 + Missense_Mutation SNP G G A rs146075164 TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr19:52249706G>A ENST00000595042.1 - 3 683 c.542C>T c.(541-543)tCg>tTg p.S181L FPR1_ENST00000304748.4_Missense_Mutation_p.S181L NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 181 activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity p.S181L(1) endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) GGTCCAGGGCGAAAAGTTAAA 0.527000 12 67 0 0 0.00136819 0 0 LIMCH1 22998 broad.mit.edu 37 4 41683077 41683077 + Splice_Site SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr4:41683077G>A ENST00000313860.7 + 20 2619 c.e20+1 LIMCH1_ENST00000509277.1_Splice_Site|LIMCH1_ENST00000503057.1_Splice_Site|LIMCH1_ENST00000508501.1_Splice_Site|LIMCH1_ENST00000513024.1_Splice_Site|LIMCH1_ENST00000511496.1_Splice_Site|LIMCH1_ENST00000381753.4_Splice_Site|LIMCH1_ENST00000512632.1_Splice_Site|LIMCH1_ENST00000512820.1_Splice_Site|LIMCH1_ENST00000514096.1_Splice_Site|LIMCH1_ENST00000396595.3_Splice_Site|LIMCH1_ENST00000512946.1_Splice_Site NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 TGGGACAATGGTGAGACCACA 0.408000 8 103 0 0 0.000274275 0 0 DENND3 22898 broad.mit.edu 37 8 142185557 142185557 + Splice_Site SNP A A G TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr8:142185557A>G ENST00000519811.1 + 14 2604 c.2535_splice c.e14+1 p.E845_splice DENND3_ENST00000424248.1_Splice_Site_p.E713_splice|DENND3_ENST00000262585.2_Splice_Site_p.E765_splice A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 765 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) AGAAATATAGAGGTAAGGACA 0.567000 OREG0019025 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 55 0 0 0.000157383 0 0 PPP6C 5537 broad.mit.edu 37 9 127912080 127912080 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr9:127912080G>A ENST00000451402.1 - 8 1121 c.901C>T c.(901-903)Cgt>Tgt p.R301C PPP6C_ENST00000415905.1_Missense_Mutation_p.R242C|PPP6C_ENST00000373547.4_Missense_Mutation_p.R264C|PPP6C_ENST00000373546.3_Missense_Mutation_p.R117C NM_001123355.1 NP_001116827.1 O00743 PPP6_HUMAN protein phosphatase 6, catalytic subunit 264 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity p.R264C(3)|p.R301C(1) NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 TTTCCACAACGATAGCAGTAA 0.403000 5 48 0 0 0.000602214 0 0 HYOU1 10525 broad.mit.edu 37 11 118922275 118922275 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:118922275C>T ENST00000404233.3 - 13 1525 c.1401G>A c.(1399-1401)cgG>cgA p.R467R HYOU1_ENST00000525859.1_Silent_p.R467R|HYOU1_ENST00000529972.1_Silent_p.R467R|HYOU1_ENST00000543287.1_Silent_p.R380R NM_001130991.1|NM_006389.3 NP_001124463.1|NP_006380.1 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 467 endoplasmic reticulum lumen ATP binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2) 33 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) AGAAGAGTACCCGTTTATTGT 0.542000 7 44 0 0 8.12818e-05 0 0 SERPINB7 8710 broad.mit.edu 37 18 61471612 61471612 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr18:61471612C>T ENST00000398019.2 + 8 1211 c.886C>T c.(886-888)Ctg>Ttg p.L296L SERPINB7_ENST00000336429.2_Silent_p.L296L|SERPINB7_ENST00000540675.1_Silent_p.L279L|SERPINB7_ENST00000546027.1_Silent_p.L296L NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 296 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity p.L296L(1) central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) AGCCCTAGGGCTGAAAGATAT 0.393000 6 51 0 0 8.12818e-05 0 0 BMP4 652 broad.mit.edu 37 14 54416795 54416795 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr14:54416795C>T ENST00000245451.4 - 4 1575 c.1182G>A c.(1180-1182)ctG>ctA p.L394L BMP4_ENST00000558984.1_Silent_p.L394L|BMP4_ENST00000417573.1_Silent_p.L394L|BMP4_ENST00000559087.1_Silent_p.L394L NM_001202.3 NP_001193.2 P12644 BMP4_HUMAN bone morphogenetic protein 4 394 activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway extracellular space|proteinaceous extracellular matrix BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1) 19 GATAATTTTTCAGTACCACCT 0.473000 7 75 0 0 0.000157383 0 0 SCN11A 11280 broad.mit.edu 37 3 38949515 38949515 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr3:38949515C>T ENST00000450244.1 - 10 1596 c.1398G>A c.(1396-1398)agG>agA p.R466R SCN11A_ENST00000456224.3_Silent_p.R466R|SCN11A_ENST00000302328.3_Silent_p.R466R|SCN11A_ENST00000444237.2_Silent_p.R466R Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 466 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AGAAGGACTTCCTTTTCTTAT 0.403000 12 80 0 0 0.000978159 0 0 UNC13B 10497 broad.mit.edu 37 9 35403774 35403774 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr9:35403774C>T ENST00000378495.3 + 39 4742 c.4520C>T c.(4519-4521)tCc>tTc p.S1507F UNC13B_ENST00000378496.4_Missense_Mutation_p.S1526F|UNC13B_ENST00000396787.1_Missense_Mutation_p.S1538F NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 1507 C2 3. excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) GGGCCCGAGTCCTATGAGTTG 0.552000 6 31 0 0 8.12818e-05 0 0 SCN11A 11280 broad.mit.edu 37 3 38924850 38924850 + Missense_Mutation SNP G G C TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr3:38924850G>C ENST00000450244.1 - 18 3291 c.3093C>G c.(3091-3093)agC>agG p.S1031R SCN11A_ENST00000456224.3_Missense_Mutation_p.S993R|SCN11A_ENST00000302328.3_Missense_Mutation_p.S1031R|SCN11A_ENST00000444237.2_Missense_Mutation_p.S1031R Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1031 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TCTTGTCCACGCTACAGCATG 0.433000 7 63 0 0 0.000157383 0 0 SZT2 23334 broad.mit.edu 37 1 43896717 43896717 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:43896717C>T ENST00000562955.1 + 32 4701 c.4701C>T c.(4699-4701)ccC>ccT p.P1567P SZT2_ENST00000372442.1_Silent_p.P725P NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 1624 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 TGACTTTGCCCCTGGAAGTGG 0.617000 5 43 0 0 0.00116845 0 0 OR5V1 81696 broad.mit.edu 37 6 29323829 29323829 + Silent SNP C C T rs140570809 TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:29323829C>T ENST00000377154.1 - 4 443 c.144G>A c.(142-144)acG>acA p.T48T OR5V1_ENST00000543825.1_Silent_p.T48T Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, member 1 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CAGTCACAGTCGTCAAGATAA 0.388000 16 168 0 0 0.00152264 0 0 PSG3 5671 broad.mit.edu 37 19 43233378 43233378 + Silent SNP A A G TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr19:43233378A>G ENST00000327495.5 - 5 1324 c.1140T>C c.(1138-1140)ttT>ttC p.F380F PSG3_ENST00000595140.1_Silent_p.F380F NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 380 Ig-like C2-type 3. Missing (in Ref. 9). defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) TCTGGGGGATAAAGAGCTTTT 0.458000 20 179 0 0 0.00188189 0 0 GPR98 84059 broad.mit.edu 37 5 89949582 89949582 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr5:89949582C>T ENST00000405460.2 + 20 4287 c.4191C>T c.(4189-4191)tcC>tcT p.S1397S NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1397 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.S1397S(1) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGACACTTTCCCTTCATTATA 0.373000 5 24 0 0 0.000602214 0 0 LCA5 167691 broad.mit.edu 37 6 80223044 80223044 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:80223044G>A ENST00000392959.1 - 4 1216 c.605C>T c.(604-606)tCc>tTc p.S202F LCA5_ENST00000369846.4_Missense_Mutation_p.S202F|LCA5_ENST00000467898.2_Missense_Mutation_p.S202F NM_181714.3 NP_859065.2 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 202 protein transport cilium axoneme|microtubule basal body protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) TTTCTGTAAGGAAAATTTTGT 0.378000 12 69 0 0 0.000978159 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 7 70 0 0 0.000157383 0 0 ARRDC1 92714 broad.mit.edu 37 9 140508858 140508858 + Silent SNP C C T rs113768660 TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr9:140508858C>T ENST00000371421.4 + 6 790 c.726C>T c.(724-726)atC>atT p.I242I ARRDC1_ENST00000491911.1_3'UTR NM_152285.2 NP_689498.1 Q8N5I2 ARRD1_HUMAN arrestin domain containing 1 242 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1) 13 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464) ACGAGCAGATCCTGGTGCCTG 0.657000 10 68 0 0 0.000673444 0 0 MYH6 4624 broad.mit.edu 37 14 23863388 23863388 + Silent SNP G G A rs148596692 TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr14:23863388G>A ENST00000405093.3 - 21 2644 c.2574C>T c.(2572-2574)ttC>ttT p.F858F MYH6_ENST00000356287.3_Silent_p.F858F NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 858 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TGATGCGCCCGAACTCTTCCT 0.572000 10 70 0 0 0.000978159 0 0 AMICA1 120425 broad.mit.edu 37 11 118074365 118074365 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:118074365G>A ENST00000292067.7 - 5 961 c.520C>T c.(520-522)Cgt>Tgt p.R174C AMICA1_ENST00000533261.1_Missense_Mutation_p.R173C|AMICA1_ENST00000356289.5_Missense_Mutation_p.R184C|AMICA1_ENST00000526620.1_Missense_Mutation_p.R145C NM_153206.2 NP_694938.2 Q86YT9 JAML1_HUMAN adhesion molecule, interacts with CXADR antigen 1 184 Ig-like V-type 2. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane p.R174G(1)|p.R174C(1) central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2) 20 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) TGGTAGTAACGAAATACAATC 0.502000 5 43 0 0 0.00116845 0 0 HHLA2 11148 broad.mit.edu 37 3 108070690 108070690 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr3:108070690C>T ENST00000467562.1 + 4 274 c.100C>T c.(100-102)Cct>Tct p.P34S HHLA2_ENST00000357759.5_Silent_p.F10F|HHLA2_ENST00000489514.2_Silent_p.F10F|HHLA2_ENST00000491820.1_Silent_p.F10F|HHLA2_ENST00000467761.1_Silent_p.F10F Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 0 integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 TGTCTTTCTTCCTCATTCTCA 0.358000 7 41 0 0 0.000274275 0 0 TAGAP 117289 broad.mit.edu 37 6 159457774 159457774 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:159457774G>A ENST00000367066.3 - 10 1612 c.1281C>T c.(1279-1281)ttC>ttT p.F427F TAGAP_ENST00000326965.6_Silent_p.F249F|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA NM_054114.3 NP_473455.2 Q8N103 TAGAP_HUMAN T-cell activation RhoGTPase activating protein 427 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) GCACTGCAGGGAAGACCTCCT 0.572000 12 59 0 0 0.00136819 0 0 SPACA1 81833 broad.mit.edu 37 6 88768451 88768451 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:88768451G>A ENST00000237201.1 + 4 502 c.385G>A c.(385-387)Gaa>Aaa p.E129K NM_030960.2 NP_112222.1 Q9HBV2 SACA1_HUMAN sperm acrosome associated 1 129 integral to membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.11) ACCAATTTCAGAAAGTCTTGA 0.318000 9 49 0 0 0.000274275 0 0 SLC9A2 6549 broad.mit.edu 37 2 103300737 103300737 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:103300737G>A ENST00000233969.2 + 5 1509 c.1367G>A c.(1366-1368)cGg>cAg p.R456Q NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 456 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 GTGTTTCCTCGGAAAAAATTG 0.433000 13 132 0 0 0.000308642 0 0 PPFIA2 8499 broad.mit.edu 37 12 81741500 81741500 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr12:81741500C>T ENST00000550584.2 - 17 2339 c.2044G>A c.(2044-2046)Gaa>Aaa p.E682K PPFIA2_ENST00000333447.7_Missense_Mutation_p.E664K|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E682K|PPFIA2_ENST00000541570.2_Missense_Mutation_p.E249K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E583K|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E682K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E664K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E682K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E608K|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E529K NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 608 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 ACTCTATTTTCAATTTCTTCA 0.418000 7 87 0 0 0.000274275 0 0 PPP4R1 9989 broad.mit.edu 37 18 9557295 9557295 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr18:9557295G>A ENST00000400556.3 - 15 2187 c.2114C>T c.(2113-2115)cCa>cTa p.P705L PPP4R1_ENST00000400555.3_Missense_Mutation_p.P688L NM_001042388.2 NP_001035847.1 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 705 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity large_intestine(1)|skin(2) 3 ATTAAAAATTGGAACCAGATC 0.363000 28 226 0 0 0.000491102 0 0 HTR4 3360 broad.mit.edu 37 5 147889130 147889130 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr5:147889130G>A ENST00000360693.3 - 6 1103 c.965C>T c.(964-966)gCc>gTc p.A322V HTR4_ENST00000314512.6_Missense_Mutation_p.A322V|HTR4_ENST00000377888.3_Missense_Mutation_p.A322V|HTR4_ENST00000362016.2_Missense_Mutation_p.A336V|HTR4_ENST00000354217.2_Missense_Mutation_p.A322V|HTR4_ENST00000520514.1_Missense_Mutation_p.A322V|HTR4_ENST00000521530.1_Missense_Mutation_p.A322V|HTR4_ENST00000521735.1_Missense_Mutation_p.A322V|HTR4_ENST00000517929.1_Missense_Mutation_p.A322V NM_001040173.2 NP_001035263.1 Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 322 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) GATGAGGAAGGCACGTCTAAA 0.502000 9 35 0 0 0.000274275 0 0 CCDC67 159989 broad.mit.edu 37 11 93088569 93088569 + Missense_Mutation SNP T T C TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:93088569T>C ENST00000298050.3 + 3 162 c.62T>C c.(61-63)tTa>tCa p.L21S CCDC67_ENST00000527307.1_Missense_Mutation_p.L21S|CCDC67_ENST00000530053.1_3'UTR NM_181645.3 NP_857596.2 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 21 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) CTTCAGGAATTAATGGAACAA 0.368000 16 75 0 0 0.00121646 0 0 SPATA18 132671 broad.mit.edu 37 4 52945947 52945947 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr4:52945947C>T ENST00000295213.4 + 9 1591 c.1217C>T c.(1216-1218)tCa>tTa p.S406L SPATA18_ENST00000419395.2_Missense_Mutation_p.S374L NM_145263.2 NP_660306.1 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 406 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) CCCAAGATTTCATTCCCTCCT 0.438000 22 170 0 0 0.00047179 0 0 ZNF667 63934 broad.mit.edu 37 19 56952847 56952847 + Missense_Mutation SNP T T C TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr19:56952847T>C ENST00000504904.3 - 7 2236 c.1517A>G c.(1516-1518)aAg>aGg p.K506R ZNF667_ENST00000292069.6_Missense_Mutation_p.K506R|ZNF667_ENST00000342634.3_Missense_Mutation_p.K634R|ZNF667_ENST00000591790.1_3'UTR Q5HYK9 ZN667_HUMAN zinc finger protein 667 506 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) GCTGAAGGCCTTCCCACACTG 0.463000 3 39 0 0 0.00024832 0 0 HYOU1 10525 broad.mit.edu 37 11 118922276 118922276 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:118922276C>T ENST00000404233.3 - 13 1524 c.1400G>A c.(1399-1401)cGg>cAg p.R467Q HYOU1_ENST00000525859.1_Missense_Mutation_p.R467Q|HYOU1_ENST00000529972.1_Missense_Mutation_p.R467Q|HYOU1_ENST00000543287.1_Missense_Mutation_p.R380Q NM_001130991.1|NM_006389.3 NP_001124463.1|NP_006380.1 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 467 endoplasmic reticulum lumen ATP binding|protein binding p.R467Q(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2) 33 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) GAAGAGTACCCGTTTATTGTG 0.537000 8 43 0 0 0.000157383 0 0 BRAF 673 broad.mit.edu 37 7 140453135 140453135 + Silent SNP C C T rs121913377 TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:140453135C>T ENST00000288602.6 - 15 1860 c.1800G>A c.(1798-1800)gtG>gtA p.V600V NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(36)|p.V600D(16)|p.V600_K601>E(12)|p.T599_R603>I(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.V600V(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) ATCGAGATTTCACTGTAGCTA 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 7 70 0 0 0.000157383 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42439446 42439446 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr15:42439446C>T ENST00000397272.3 - 13 1392 c.1301G>A c.(1300-1302)gGa>gAa p.G434E PLA2G4F_ENST00000382396.4_Missense_Mutation_p.G432E NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 432 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) GGACAAAGCTCCCATCTTACT 0.627000 9 24 0 0 0.000673444 0 0 BBS7 55212 broad.mit.edu 37 4 122766756 122766756 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr4:122766756G>A ENST00000264499.4 - 11 1316 c.1133C>T c.(1132-1134)tCc>tTc p.S378F BBS7_ENST00000506636.1_Missense_Mutation_p.S378F NM_176824.2 NP_789794.1 Q8IWZ6 BBS7_HUMAN Bardet-Biedl syndrome 7 378 cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception BBSome|centrosome|cilium membrane protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 TATACCAAAGGAAGGTACTGC 0.348000 Bardet-Biedl syndrome 8 70 0 0 0.000274275 0 0 GRIA4 2893 broad.mit.edu 37 11 105623907 105623907 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:105623907G>A ENST00000393127.2 + 4 894 c.448G>A c.(448-450)Gaa>Aaa p.E150K GRIA4_ENST00000393125.2_Missense_Mutation_p.E150K|GRIA4_ENST00000530497.1_Missense_Mutation_p.E150K|GRIA4_ENST00000428631.2_Missense_Mutation_p.E150K|GRIA4_ENST00000282499.5_Missense_Mutation_p.E150K|GRIA4_ENST00000525187.1_Missense_Mutation_p.E150K NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 150 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) GGATCACTACGAATGGAACTG 0.443000 21 69 0 0 0.000295444 0 0 WSCD1 23302 broad.mit.edu 37 17 6023963 6023963 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr17:6023963G>A ENST00000574946.1 + 9 2100 c.1710G>A c.(1708-1710)agG>agA p.R570R WSCD1_ENST00000574232.1_Silent_p.R570R|WSCD1_ENST00000539421.1_Silent_p.R570R|WSCD1_ENST00000573634.1_Silent_p.R454R|WSCD1_ENST00000317744.5_Silent_p.R570R Q658N2 WSCD1_HUMAN WSC domain containing 1 570 integral to membrane sulfotransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1) 35 GGCTGCCCAGGGAGTATGTGC 0.652000 10 45 0 0 0.000978159 0 0 TRIM63 84676 broad.mit.edu 37 1 26384907 26384907 + Missense_Mutation SNP C C T rs61749355 byFrequency TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:26384907C>T ENST00000374272.3 - 5 943 c.805G>A c.(805-807)Gag>Aag p.E269K NM_032588.3 NP_115977.2 Q969Q1 TRI63_HUMAN tripartite motif containing 63, E3 ubiquitin protein ligase 269 COS. cytoplasm|microtubule|nucleus ligase activity|signal transducer activity|titin binding|zinc ion binding kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CCCCCAGGCTCGTCCAGGGAC 0.552000 9 63 0 0 0.000274275 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 171433 171433 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr5:171433G>A ENST00000283426.6 + 14 2906 c.2856G>A c.(2854-2856)aaG>aaA p.K952K NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 952 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) ACCTGCTCAAGGAGGCCAGCT 0.672000 5 25 0 0 0.000602214 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30689645 30689645 + Nonsense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr22:30689645G>A ENST00000215790.7 - 8 1209 c.1045C>T c.(1045-1047)Cag>Tag p.Q349* RP1-130H16.18_ENST00000447976.1_Nonsense_Mutation_p.Q223*|TBC1D10A_ENST00000403362.1_Nonsense_Mutation_p.Q261*|TBC1D10A_ENST00000403477.3_Nonsense_Mutation_p.Q356* NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 349 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 TGTACCTCCTGGACCAGAAAG 0.637000 5 34 0 0 8.12818e-05 0 0 BAZ2B 29994 broad.mit.edu 37 2 160294891 160294891 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:160294891G>A ENST00000392783.2 - 8 1711 c.1216C>T c.(1216-1218)Cct>Tct p.P406S BAZ2B_ENST00000392782.1_Missense_Mutation_p.P404S|BAZ2B_ENST00000355831.2_Missense_Mutation_p.P406S|BAZ2B_ENST00000343439.5_Missense_Mutation_p.P404S NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 406 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 AGAACATCAGGAGAAGGAACT 0.353000 7 48 0 0 8.12818e-05 0 0 STAB2 55576 broad.mit.edu 37 12 104111553 104111553 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr12:104111553C>T ENST00000388887.2 + 44 4821 c.4617C>T c.(4615-4617)gcC>gcT p.A1539A NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1539 EGF-like 13. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GACAGGCTGCCTGTAACTGTT 0.507000 16 156 0 0 0.000566183 0 0 PENK 5179 broad.mit.edu 37 8 57354293 57354293 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr8:57354293C>T ENST00000314922.3 - 2 418 c.342G>A c.(340-342)atG>atA p.M114I PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.M114I NM_006211.3 NP_006202.1 P01210 PENK_HUMAN proenkephalin 114 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) AAAGCTCATCCATTTTCTTCA 0.498000 11 98 0 0 0.000673444 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 171434 171434 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr5:171434G>A ENST00000283426.6 + 14 2907 c.2857G>A c.(2857-2859)Gag>Aag p.E953K NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 953 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CCTGCTCAAGGAGGCCAGCTG 0.677000 5 25 0 0 0.000602214 0 0 FAM171B 165215 broad.mit.edu 37 2 187605078 187605078 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:187605078G>A ENST00000304698.5 + 2 565 c.362G>A c.(361-363)gGa>gAa p.G121E NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 121 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 AAAAGCAATGGAGCAGTGCTG 0.408000 6 61 0 0 0.00116845 0 0 PTH2R 5746 broad.mit.edu 37 2 209292968 209292968 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:209292968C>T ENST00000272847.2 + 2 331 c.118C>T c.(118-120)Ctt>Ttt p.L40F PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 40 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) GCAGATTGTCCTTGTGCTGAA 0.418000 7 46 0 0 0.000442599 0 0 PLG 5340 broad.mit.edu 37 6 161160173 161160173 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:161160173G>A ENST00000308192.9 + 16 2014 c.1951G>A c.(1951-1953)Gaa>Aaa p.E651K NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 651 Peptidase S1. 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) GCATGTTCAGGAAATAGAAGT 0.498000 12 77 0 0 0.000978159 0 0 CEP128 145508 broad.mit.edu 37 14 81302605 81302605 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr14:81302605G>A ENST00000555265.1 - 12 1376 c.1001C>T c.(1000-1002)tCc>tTc p.S334F CEP128_ENST00000216517.6_Missense_Mutation_p.S334F|CEP128_ENST00000281129.3_Missense_Mutation_p.S334F Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 334 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 CTGTTGCTTGGAAATCTGAGA 0.403000 26 100 0 0 0.000878237 0 0 BCAM 4059 broad.mit.edu 37 19 45315759 45315759 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr19:45315759C>T ENST00000391955.1 + 4 502 c.458C>T c.(457-459)tCc>tTc p.S153F BCAM_ENST00000270233.6_Missense_Mutation_p.S153F P50895 BCAM_HUMAN basal cell adhesion molecule (Lutheran blood group) 153 Ig-like V-type 2. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) ACTGAGGTCTCCCCCAACAAA 0.652000 28 187 0 0 0.001512 0 0 TRIM42 287015 broad.mit.edu 37 3 140397075 140397075 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr3:140397075G>A ENST00000286349.3 + 1 195 c.4G>A c.(4-6)Gaa>Aaa p.E2K NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 2 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 AGGCACCATGGAAACTGCTAT 0.512000 20 99 0 0 0.000958276 0 0 KIF5A 3798 broad.mit.edu 37 12 57969485 57969485 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr12:57969485C>T ENST00000455537.2 + 17 2242 c.1968C>T c.(1966-1968)caC>caT p.H656H KIF5A_ENST00000286452.5_Silent_p.H567H NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 656 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 AGAAGCGGCACCTGGAAGAGT 0.557000 17 137 0 0 0.00121646 0 0 ZNF382 84911 broad.mit.edu 37 19 37101568 37101568 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr19:37101568G>A ENST00000435416.1 + 2 1651 c.156G>A c.(154-156)aaG>aaA p.K52K ZNF382_ENST00000423582.1_Silent_p.K3K|ZNF382_ENST00000439428.1_Silent_p.K51K|ZNF382_ENST00000292928.2_Silent_p.K52K Q96SR6 ZN382_HUMAN zinc finger protein 382 52 KRAB.|Mediates interaction with TRIM28 (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 34 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) ACATGGCTAAGCCTGATATGA 0.378000 10 80 0 0 0.00136819 0 0 TRIT1 54802 broad.mit.edu 37 1 40312932 40312932 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:40312932G>A ENST00000316891.5 - 8 980 c.966C>T c.(964-966)gcC>gcT p.A322A TRIT1_ENST00000372818.1_Intron|TRIT1_ENST00000441669.2_Silent_p.A240A|TRIT1_ENST00000545233.1_Silent_p.A76A|TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537223.1_Silent_p.A18A|TRIT1_ENST00000537440.1_Silent_p.A18A NM_017646.4 NP_060116.2 Q9H3H1 MOD5_HUMAN tRNA isopentenyltransferase 1 322 Interaction with substrate tRNA (By similarity). tRNA processing mitochondrion ATP binding|metal ion binding|tRNA dimethylallyltransferase activity breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1) 15 all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TTTGTTTCCGGGCATATCTCT 0.393000 6 49 0 0 0.000157383 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 5 42 0 0 0.000602214 0 0 HCRTR2 3062 broad.mit.edu 37 6 55039521 55039521 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:55039521G>A ENST00000370862.3 + 1 472 c.136G>A c.(136-138)Gaa>Aaa p.E46K NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 46 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) CCTGTGGAGGGAATACCTGCA 0.537000 12 65 0 0 0.00136819 0 0 CORIN 10699 broad.mit.edu 37 4 47647134 47647134 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr4:47647134G>A ENST00000273857.4 - 14 1920 c.1921C>T c.(1921-1923)Cca>Tca p.P641S CORIN_ENST00000502252.1_Missense_Mutation_p.P574S|CORIN_ENST00000505909.1_Missense_Mutation_p.P604S|CORIN_ENST00000508498.1_Missense_Mutation_p.P502S|CORIN_ENST00000504584.1_Missense_Mutation_p.P604S NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 641 LDL-receptor class A 6. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 GGGCAGTCTGGGAACCCATCG 0.388000 13 91 0 0 0.000422831 0 0 ELTD1 64123 broad.mit.edu 37 1 79392765 79392765 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:79392765C>T ENST00000370742.3 - 8 952 c.889G>A c.(889-891)Gtt>Att p.V297I NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 297 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) ACAAATGCAACTGCAACATTG 0.274000 6 45 0 0 0.00116845 0 0 TNRC6A 27327 broad.mit.edu 37 16 24831512 24831512 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr16:24831512C>T ENST00000395799.3 + 22 5262 c.5133C>T c.(5131-5133)acC>acT p.T1711T TNRC6A_ENST00000315183.7_Silent_p.T1662T|TNRC6A_ENST00000432286.2_Silent_p.T189T NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1711 Sufficient for interaction with EIF2C2. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TTACAAACACCTCTCTGGCTC 0.493000 8 100 0 0 0.000673444 0 0 NACA2 342538 broad.mit.edu 37 17 59668329 59668329 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr17:59668329C>T ENST00000521764.1 - 1 234 c.213G>A c.(211-213)cgG>cgA p.R71R NM_199290.3 NP_954984.1 Q9H009 NACA2_HUMAN nascent polypeptide-associated complex alpha subunit 2 71 NAC-A/B. protein transport cytoplasm|nucleus p.R71R(1) large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 12 all_epithelial(1;3.12e-14) TCTTTTCACTCCGACTCTGTT 0.463000 23 172 0 0 0.000375601 0 0 NLRP13 126204 broad.mit.edu 37 19 56410190 56410190 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr19:56410190C>T ENST00000588751.1 - 10 2927 c.2903G>A c.(2902-2904)gGa>gAa p.G968E NLRP13_ENST00000342929.3_Missense_Mutation_p.G968E Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 968 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TAGCTTCACTCCATCATCCTG 0.458000 9 76 0 0 0.000673444 0 0 PNMT 5409 broad.mit.edu 37 17 37826222 37826222 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr17:37826222G>A ENST00000269582.2 + 3 747 c.429G>A c.(427-429)aaG>aaA p.K143K PNMT_ENST00000581428.1_3'UTR|PNMT_ENST00000394246.1_Silent_p.K45K NM_002686.3 NP_002677.1 P11086 PNMT_HUMAN phenylethanolamine N-methyltransferase 143 catecholamine biosynthetic process|hormone biosynthetic process cytosol phenylethanolamine N-methyltransferase activity NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GGCAGGATAAGGAGCGCCAGC 0.657000 4 46 0 0 0.000602214 0 0 OSBP2 23762 broad.mit.edu 37 22 31289498 31289498 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr22:31289498G>A ENST00000332585.6 + 10 2143 c.2039G>A c.(2038-2040)aGg>aAg p.R680K OSBP2_ENST00000401475.1_Missense_Mutation_p.R313K|OSBP2_ENST00000535268.1_Missense_Mutation_p.R224K|OSBP2_ENST00000446658.2_Missense_Mutation_p.R679K|OSBP2_ENST00000403222.3_Missense_Mutation_p.R514K|OSBP2_ENST00000407373.1_Missense_Mutation_p.R507K|OSBP2_ENST00000382310.3_Missense_Mutation_p.R631K|OSBP2_ENST00000437268.2_Missense_Mutation_p.R422K|OSBP2_ENST00000496575.1_3'UTR NM_030758.3 NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 680 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 TACGTGTGGAGGAAGAGCACC 0.632000 9 56 0 0 0.000442599 0 0 RREB1 6239 broad.mit.edu 37 6 7248820 7248820 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:7248820C>T ENST00000379938.2 + 13 5385 c.4848C>T c.(4846-4848)atC>atT p.I1616I RREB1_ENST00000334984.6_Silent_p.I1350I|RREB1_ENST00000349384.6_Silent_p.I1561I|RREB1_ENST00000379933.3_Silent_p.I1561I NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 1561 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) ACCAGCGGATCCACCAGAAAG 0.557000 5 30 0 0 0.000602214 0 0 ZNF280A 129025 broad.mit.edu 37 22 22868501 22868501 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr22:22868501C>T ENST00000302097.3 - 2 1706 c.1454G>A c.(1453-1455)gGg>gAg p.G485E NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 485 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) ACGAGGGAACCCTTGCAGTTG 0.438000 14 73 0 0 0.000422831 0 0 TRIM17 51127 broad.mit.edu 37 1 228596831 228596831 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:228596831G>A ENST00000456946.2 - 6 1300 c.925C>T c.(925-927)Ctt>Ttt p.L309F TRIM17_ENST00000366697.2_Intron|TRIM17_ENST00000366698.2_Intron|TRIM17_ENST00000295033.3_Intron|RP11-245P10.4_ENST00000436779.1_RNA NM_001134855.1 NP_001128327.1 Q9Y577 TRI17_HUMAN tripartite motif containing 17 0 B30.2/SPRY. protein autoubiquitination intracellular protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1) 10 Prostate(94;0.0724) GCATCGCCAAGAGATCCTGGG 0.592000 8 50 0 0 0.000274275 0 0 POT1 25913 broad.mit.edu 37 7 124469352 124469352 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:124469352G>A ENST00000357628.3 - 16 2148 c.1550C>T c.(1549-1551)tCc>tTc p.S517F POT1_ENST00000393329.1_Missense_Mutation_p.S386F NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 517 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 ATCAACCAGGGAATTTAGATT 0.303000 6 85 0 0 0.000157383 0 0 MRAS 22808 broad.mit.edu 37 3 138091750 138091750 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr3:138091750G>A ENST00000289104.4 + 2 672 c.25G>A c.(25-27)Gac>Aac p.D9N MRAS_ENST00000464896.1_Intron|MRAS_ENST00000474559.1_Missense_Mutation_p.D9N|MRAS_ENST00000423968.2_Missense_Mutation_p.D9N NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4 NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3 O14807 RASM_HUMAN muscle RAS oncogene homolog 9 actin cytoskeleton organization|muscle organ development|Ras protein signal transduction intracellular|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 14 CGTCCCCAGTGACAACCTCCC 0.527000 35 215 0 0 0.000692331 0 0 SELE 6401 broad.mit.edu 37 1 169698654 169698654 + Nonsense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:169698654C>T ENST00000333360.7 - 6 1015 c.876G>A c.(874-876)tgG>tgA p.W292* SELE_ENST00000367776.1_Nonsense_Mutation_p.W292*|SELE_ENST00000367782.4_Nonsense_Mutation_p.W292*|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Nonsense_Mutation_p.W230*|SELE_ENST00000367774.1_Nonsense_Mutation_p.W292*|SELE_ENST00000367779.4_Nonsense_Mutation_p.W292*|SELE_ENST00000367777.1_Nonsense_Mutation_p.W292*|SELE_ENST00000367775.1_Nonsense_Mutation_p.W230*|SELE_ENST00000367781.4_Nonsense_Mutation_p.W292* NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 292 Sushi 2. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) TCTCGTTGTCCCAATTCCCAG 0.453000 5 82 0 0 0.00116845 0 0 PPM1H 57460 broad.mit.edu 37 12 63114014 63114014 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr12:63114014C>T ENST00000228705.6 - 6 1310 c.1010G>A c.(1009-1011)aGg>aAg p.R337K PPM1H_ENST00000551214.1_5'UTR NM_020700.1 NP_065751.1 Q9ULR3 PPM1H_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1H 337 PP2C-like. phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1) 18 GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209) GBM - Glioblastoma multiforme(28;0.0126) CTGTACTCTCCTTGGAAACTC 0.428000 14 133 0 0 0.000422831 0 0 FAM92B 339145 broad.mit.edu 37 16 85141674 85141674 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr16:85141674G>A ENST00000539556.1 - 3 442 c.287C>T c.(286-288)cCc>cTc p.P96L NM_198491.1 NP_940893.1 Q6ZTR7 FA92B_HUMAN family with sequence similarity 92, member B 96 breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 16 GAGCTTCAGGGGGTTGACCAC 0.642000 11 37 0 0 0.000978159 0 0 ALDH7A1 501 broad.mit.edu 37 5 125906538 125906538 + Missense_Mutation SNP C C A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr5:125906538C>A ENST00000409134.3 - 8 928 c.709G>T c.(709-711)Gtt>Ttt p.V237F ALDH7A1_ENST00000413020.1_5'UTR|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.V237F|ALDH7A1_ENST00000447989.2_Missense_Mutation_p.V264F NM_001182.4|NM_001201377.1 NP_001173.2|NP_001188306.1 P49419 AL7A1_HUMAN aldehyde dehydrogenase 7 family, member A1 237 cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound cytosol|mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.24)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109) NADH(DB00157)|Pyridoxine(DB00165) TCCTCCAGAACCTTGGCTATT 0.408000 18 147 1.00905e-13 5.1704e-13 0.00121646 1 0 BAI3 577 broad.mit.edu 37 6 69703712 69703712 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:69703712C>T ENST00000370598.1 + 11 2608 c.1787C>T c.(1786-1788)tCc>tTc p.S596F NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 596 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GATGGAATGTCCCAGGTGACC 0.438000 32 201 0 0 0.00058488 0 0 PRDX5 25824 broad.mit.edu 37 11 64087253 64087253 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:64087253G>A ENST00000265462.4 + 2 347 c.219G>A c.(217-219)ggG>ggA p.G73G PRDX5_ENST00000352435.4_Silent_p.G73G|PRDX5_ENST00000347941.4_Intron NM_012094.4 NP_036226.1 P30044 PRDX5_HUMAN peroxiredoxin 5 73 Thioredoxin. cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis cytosolic part|mitochondrion|peroxisome caspase inhibitor activity|peroxidase activity|peroxiredoxin activity breast(1)|kidney(1)|lung(1)|skin(1) 4 Auranofin(DB00995) GGGAGCCAGGGAACAAGGTGA 0.597000 11 86 0 0 0.000219431 0 0 TMEM71 137835 broad.mit.edu 37 8 133740055 133740055 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr8:133740055G>A ENST00000356838.3 - 6 750 c.608C>T c.(607-609)tCg>tTg p.S203L TMEM71_ENST00000523829.1_Missense_Mutation_p.S222L|TMEM71_ENST00000377901.4_Intron NM_144649.2 NP_653250.2 Q6P5X7 TMM71_HUMAN transmembrane protein 71 222 integral to membrane endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) TGAATGATCCGAACTATTCTC 0.438000 10 108 0 0 0.000442599 0 0 LILRB4 11006 broad.mit.edu 37 19 55175697 55175697 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr19:55175697G>A ENST00000391736.1 + 6 731 c.416G>A c.(415-417)aGc>aAc p.S139N LILRB4_ENST00000430952.2_Missense_Mutation_p.S139N|LILRB4_ENST00000391734.3_Missense_Mutation_p.S139N|LILRB4_ENST00000270452.2_Missense_Mutation_p.S139N|LILRB4_ENST00000391733.3_Missense_Mutation_p.S139N NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 139 Ig-like C2-type 2. integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) TCAGGAAAGAGCGTGACCCTG 0.572000 16 54 0 0 0.000308642 0 0 DIXDC1 85458 broad.mit.edu 37 11 111855995 111855995 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:111855995G>A ENST00000440460.2 + 9 1252 c.955G>A c.(955-957)Gag>Aag p.E319K DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Missense_Mutation_p.E108K NM_001037954.2 NP_001033043.1 Q155Q3 DIXC1_HUMAN DIX domain containing 1 320 multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytosol|focal adhesion actin binding|gamma-tubulin binding|signal transducer activity cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 17 all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548) AGATGAACAGGAGAGGCCCTT 0.443000 4 16 0 0 0.000602214 0 0 PGC 5225 broad.mit.edu 37 6 41704688 41704688 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:41704688C>T ENST00000373025.3 - 9 1131 c.1069G>A c.(1069-1071)Ggc>Agc p.G357S NM_002630.3 NP_002621.1 P20142 PEPC_HUMAN progastricsin (pepsinogen C) 357 digestion|proteolysis extracellular space aspartic-type endopeptidase activity endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1) 16 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) AGGGGCTGGCCGTTCTGGGAG 0.557000 8 52 0 0 0.000442599 0 0 OR8A1 390275 broad.mit.edu 37 11 124440858 124440858 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:124440858C>T ENST00000284287.3 + 1 966 c.894C>T c.(892-894)atC>atT p.I298I NM_001005194.1 NP_001005194.1 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, member 1 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2) 22 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) CCACGGTAATCCCCATGTTGA 0.448000 7 30 0 0 0.000157383 0 0 CHST4 10164 broad.mit.edu 37 16 71570929 71570929 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr16:71570929C>T ENST00000338482.5 + 3 692 c.349C>T c.(349-351)Ccc>Tcc p.P117S CHST4_ENST00000539698.3_Missense_Mutation_p.P117S|RP11-510M2.9_ENST00000572693.1_RNA|CHST4_ENST00000572450.1_Missense_Mutation_p.P117S|ZNF19_ENST00000568446.1_Intron Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 117 cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 21 GGAACCTGGTCCCCGGAGACA 0.592000 13 36 0 0 0.000219431 0 0 MIR99AHG 388815 broad.mit.edu 37 21 17566918 17566918 + RNA SNP C C A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr21:17566918C>A ENST00000458468.1 + 0 409 NR_027790.1 CAGAAAATAGCACACTTTTAC 0.398000 8 45 4.68919e-08 2.39363e-07 0.000673444 1 0 POLE 5426 broad.mit.edu 37 12 133233953 133233953 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr12:133233953G>A ENST00000320574.5 - 28 3484 c.3441C>T c.(3439-3441)atC>atT p.I1147I POLE_ENST00000535270.1_Silent_p.I1120I NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1147 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GGGCCGCAGGGATGGTGATGA 0.577000 DNA polymerases (catalytic subunits) 7 50 0 0 0.000157383 0 0 SALL3 27164 broad.mit.edu 37 18 76752127 76752127 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr18:76752127G>A ENST00000575389.2 + 2 136 c.136G>A c.(136-138)Ggg>Agg p.G46R SALL3_ENST00000536229.3_5'UTR|SALL3_ENST00000572928.1_3'UTR|SALL3_ENST00000537592.2_Missense_Mutation_p.G46R Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 46 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GAGCCGCAGCGGGGGCGAGGA 0.706000 4 13 0 0 0.00024832 0 0 ZNF662 389114 broad.mit.edu 37 3 42956557 42956557 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr3:42956557C>T ENST00000541208.1 + 5 1361 c.992C>T c.(991-993)cCt>cTt p.P331L KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.P357L|ZNF662_ENST00000440367.2_Missense_Mutation_p.P331L Q6ZS27 ZN662_HUMAN zinc finger protein 662 331 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.217) GGGGAGAAGCCTTACGAATGT 0.493000 5 39 0 0 0.00116845 0 0 OR1E1 8387 broad.mit.edu 37 17 3301630 3301630 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr17:3301630G>A ENST00000322608.2 - 1 74 c.75C>T c.(73-75)aaC>aaT p.N25N NM_003553.2 NP_003544.2 P30953 OR1E1_HUMAN olfactory receptor, family 1, subfamily E, member 1 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(2)|lung(5) 10 CATAGCACAGGTTTTGCTGCT 0.517000 11 73 0 0 0.000219431 0 0 HAO2 51179 broad.mit.edu 37 1 119936434 119936434 + Nonsense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:119936434C>T ENST00000361035.4 + 9 1349 c.1066C>T c.(1066-1068)Cga>Tga p.R356* HAO2_ENST00000325945.3_Nonsense_Mutation_p.R343*|HAO2_ENST00000482991.1_3'UTR NM_001005783.1 NP_001005783.1 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 343 fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) TGAGATCAATCGAAACTTGGT 0.478000 17 116 0 0 0.00074312 0 0 CELF3 11189 broad.mit.edu 37 1 151677575 151677575 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:151677575C>T ENST00000290583.4 - 12 2133 c.1340G>A c.(1339-1341)gGc>gAc p.G447D RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_Missense_Mutation_p.G397D|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000392706.3_Missense_Mutation_p.G242D NM_001172648.1|NM_007185.4 NP_001166119.1|NP_009116.3 Q5SZQ8 CELF3_HUMAN CUGBP, Elav-like family member 3 447 RRM 3. nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding p.G447D(1) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 21 GCGCTTCATGCCGATCTGGAA 0.642000 8 45 0 0 0.000157383 0 0 MYO15A 51168 broad.mit.edu 37 17 18029750 18029750 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr17:18029750G>A ENST00000205890.5 + 5 4184 c.3846G>A c.(3844-3846)cgG>cgA p.R1282R NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 1282 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) ACAACGGACGGGCCCTGGGAG 0.627000 5 34 0 0 0.000602214 0 0 CD164L2 388611 broad.mit.edu 37 1 27709047 27709047 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:27709047C>T ENST00000374027.3 - 2 262 c.199G>A c.(199-201)Gac>Aac p.D67N CD164L2_ENST00000374025.3_Missense_Mutation_p.D67N|CD164L2_ENST00000374030.1_Missense_Mutation_p.D67N NM_207397.2 NP_997280.1 Q6UWJ8 C16L2_HUMAN CD164 sialomucin-like 2 67 integral to membrane endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CGCGCTCTGTCTCCCTCCACG 0.642000 8 32 0 0 0.000274275 0 0 MOGAT3 346606 broad.mit.edu 37 7 100844110 100844110 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:100844110G>A ENST00000223114.4 - 1 192 c.26C>T c.(25-27)cCc>cTc p.P9L MOGAT3_ENST00000379423.3_Missense_Mutation_p.P9L|MOGAT3_ENST00000440203.2_Missense_Mutation_p.P9L NM_178176.2 NP_835470.1 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 9 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) AGTGGTTGGGGGCTGCAGGGT 0.567000 7 21 0 0 0.000442599 0 0 MYH6 4624 broad.mit.edu 37 14 23865537 23865537 + Silent SNP C C G TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr14:23865537C>G ENST00000405093.3 - 20 2455 c.2385G>C c.(2383-2385)cgG>cgC p.R795R MYH6_ENST00000356287.3_Silent_p.R795R NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 795 IQ. R -> Q (in CMH14; late onset). adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TGAGCTGGCCCCGGGCTTGGG 0.587000 8 49 0 0 0.000157383 0 0 PRTG 283659 broad.mit.edu 37 15 55930818 55930818 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr15:55930818G>A ENST00000389286.4 - 14 2428 c.2381C>T c.(2380-2382)gCc>gTc p.A794V NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 794 Fibronectin type-III 4. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) TAATCGAACGGCAAATTCGTA 0.388000 10 55 0 0 0.000442599 0 0 PODN 127435 broad.mit.edu 37 1 53542943 53542943 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:53542943C>T ENST00000371500.3 + 8 1091 c.750C>T c.(748-750)gtC>gtT p.V250V PODN_ENST00000395871.2_Intron|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Silent_p.V269V NM_001199080.1 NP_001186009.1 Q7Z5L7 PODN_HUMAN podocan 221 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 ACGTCGAGGTCCTCATCCTGT 0.632000 12 104 0 0 0.00136819 0 0 CXXC5 51523 broad.mit.edu 37 5 139060581 139060581 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr5:139060581G>A ENST00000302517.3 + 2 1187 c.473G>A c.(472-474)gGa>gAa p.G158E CXXC5_ENST00000511048.1_Missense_Mutation_p.G158E|CXXC5_ENST00000515038.1_3'UTR NM_016463.7 NP_057547.5 Q7LFL8 CXXC5_HUMAN CXXC finger protein 5 158 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|nucleus DNA binding|signal transducer activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGCCGAGGGACAGCTGACG 0.632000 9 63 0 0 0.000274275 0 0 DGKG 1608 broad.mit.edu 37 3 186006576 186006576 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr3:186006576G>A ENST00000265022.3 - 6 1006 c.467C>T c.(466-468)tCc>tTc p.S156F DGKG_ENST00000382164.4_Missense_Mutation_p.S156F|DGKG_ENST00000344484.4_Missense_Mutation_p.S156F|DGKG_ENST00000544847.1_Missense_Mutation_p.S156F NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 156 Poly-Ser. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) TACCACTGGGGATTCCGAGCT 0.572000 18 197 0 0 0.000375601 0 0 OR4C11 219429 broad.mit.edu 37 11 55371070 55371070 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:55371070C>T ENST00000302231.4 - 1 804 c.780G>A c.(778-780)ccG>ccA p.P260P NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 GGAAAGTGGTCGGGGGGCGTG 0.438000 6 49 0 0 0.00116845 0 0 SACS 26278 broad.mit.edu 37 13 23904564 23904564 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr13:23904564G>A ENST00000382298.3 - 10 14039 c.13451C>T c.(13450-13452)gCt>gTt p.A4484V SACS_ENST00000402364.1_Missense_Mutation_p.A3734V|SACS_ENST00000382292.3_Missense_Mutation_p.A4484V NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 4484 HEPN. cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TGCAATCAAAGCTAACTTGGT 0.408000 17 135 0 0 0.00074312 0 0 TTN 7273 broad.mit.edu 37 2 179418078 179418078 + Missense_Mutation SNP A A T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:179418078A>T ENST00000589042.1 - 335 89773 c.89549T>A c.(89548-89550)aTt>aAt p.I29850N TTN_ENST00000460472.2_Missense_Mutation_p.I20785N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I20977N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I28209N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I20910N|TTN_ENST00000342992.6_Missense_Mutation_p.I27282N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28209 Fibronectin type-III 117. 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) AGCTTTGGCAATAACAGAAGT 0.403000 23 211 0 0 0.00188189 0 0 OR2W1 26692 broad.mit.edu 37 6 29012269 29012269 + Silent SNP C C T rs144276666 TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:29012269C>T ENST00000377175.1 - 1 748 c.684G>A c.(682-684)acG>acA p.T228T NM_030903.3 NP_112165.1 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, member 1 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T228T(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 CTTTTGACTTCGTTCTCAGCA 0.393000 11 93 0 0 0.00136819 0 0 TTN 7273 broad.mit.edu 37 2 179599144 179599144 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:179599144G>A ENST00000589042.1 - 52 15631 c.15407C>T c.(15406-15408)tCg>tTg p.S5136L TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S4819L|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S3892L|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4819 Ig-like 32. 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) ACTATTAAACGAAAAGATCTC 0.383000 41 176 0 0 0.000509022 0 0 NCKAP1 10787 broad.mit.edu 37 2 183795425 183795425 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:183795425G>A ENST00000360982.2 - 28 3727 c.2969C>T c.(2968-2970)tCg>tTg p.S990L NCKAP1_ENST00000361354.3_Missense_Mutation_p.S984L|NCKAP1_ENST00000478449.1_5'UTR NM_205842.1 NP_995314.1 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 984 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding p.S990L(1) breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) CATTTTACCCGATTTTTGTGA 0.353000 6 26 0 0 8.12818e-05 0 0 FGR 2268 broad.mit.edu 37 1 27943786 27943786 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:27943786C>T ENST00000374005.3 - 6 738 c.450G>A c.(448-450)ggG>ggA p.G150G FGR_ENST00000545953.1_Intron|FGR_ENST00000399173.1_Silent_p.G150G|FGR_ENST00000374004.1_Silent_p.G150G NM_005248.2 NP_005239.1 P09769 FGR_HUMAN feline Gardner-Rasheed sarcoma viral oncogene homolog 150 SH2. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CATCCTTTCTCCCAATCTTTC 0.572000 8 43 0 0 0.000442599 0 0 ABCA4 24 broad.mit.edu 37 1 94520779 94520779 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:94520779C>T ENST00000370225.3 - 16 2561 c.2475G>A c.(2473-2475)ggG>ggA p.G825G ABCA4_ENST00000535735.1_Silent_p.G751G NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 825 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TGGGACTGTTCCCGATGTTGC 0.542000 7 52 0 0 0.000274275 0 0 ZNF532 55205 broad.mit.edu 37 18 56586307 56586307 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr18:56586307C>T ENST00000336078.4 + 4 1564 c.788C>T c.(787-789)tCg>tTg p.S263L ZNF532_ENST00000591808.1_Missense_Mutation_p.S263L|ZNF532_ENST00000591083.1_Missense_Mutation_p.S263L|ZNF532_ENST00000591230.1_Missense_Mutation_p.S263L|ZNF532_ENST00000589288.1_Missense_Mutation_p.S263L NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 263 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 AAGACAAAGTCGTCCTCCAAG 0.557000 8 44 0 0 0.000274275 0 0 VWA3B 200403 broad.mit.edu 37 2 98804438 98804438 + Splice_Site SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:98804438G>A ENST00000477737.1 + 10 1516 c.1311_splice c.e10-1 p.E438_splice VWA3B_ENST00000451075.2_Splice_Site_p.E288_splice|VWA3B_ENST00000435344.1_Splice_Site_p.E438_splice NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 438 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 ATCTCCTTAGGAGACGAACAA 0.483000 5 17 0 0 0.000157383 0 0 CD163L1 283316 broad.mit.edu 37 12 7585054 7585054 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr12:7585054G>A ENST00000313599.3 - 4 781 c.724C>T c.(724-726)Cat>Tat p.H242Y CD163L1_ENST00000396630.1_Missense_Mutation_p.H242Y|CD163L1_ENST00000416109.2_Missense_Mutation_p.H252Y Q9NR16 C163B_HUMAN CD163 molecule-like 1 242 SRCR 2. 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 CTGCAGTCATGATTTCCCCAT 0.423000 10 52 0 0 0.000673444 0 0 ZNF287 57336 broad.mit.edu 37 17 16469860 16469860 + Nonsense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr17:16469860C>T ENST00000395824.1 - 3 1097 c.480G>A c.(478-480)tgG>tgA p.W160* ZNF287_ENST00000395825.3_Nonsense_Mutation_p.W160* Q9HBT7 ZN287_HUMAN zinc finger protein 287 153 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) AGTCATTTAGCCATCCTGTCT 0.443000 18 141 0 0 0.000958276 0 0 CSMD2 114784 broad.mit.edu 37 1 34015885 34015885 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:34015885C>T ENST00000373381.4 - 56 8985 c.8809G>A c.(8809-8811)Gga>Aga p.G2937R NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2913 Sushi 21. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ACCACTGCTCCCACAGTATAA 0.592000 10 47 0 0 0.000673444 0 0 RUSC2 9853 broad.mit.edu 37 9 35559262 35559262 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr9:35559262C>T ENST00000455600.1 + 9 3950 c.3381C>T c.(3379-3381)aaC>aaT p.N1127N NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 1127 RUN. cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) ACCTCTATAACCACGAAGGTA 0.478000 4 41 0 0 0.000602214 0 0 OR10S1 219873 broad.mit.edu 37 11 123847469 123847469 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:123847469C>T ENST00000531945.1 - 1 1019 c.930G>A c.(928-930)aaG>aaA p.K310K NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GCAGAGCATGCTTCACCTCCT 0.527000 8 47 0 0 0.000442599 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798623 55798623 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:55798623C>T ENST00000313555.1 + 1 729 c.729C>T c.(727-729)tcC>tcT p.S243S NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) CTTGTGCTTCCCACCTCATAG 0.448000 20 131 0 0 0.00152264 0 0 PPP1R32 220004 broad.mit.edu 37 11 61254516 61254516 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:61254516G>A ENST00000338608.2 + 10 1056 c.931G>A c.(931-933)Gag>Aag p.E311K PPP1R32_ENST00000432063.2_Missense_Mutation_p.E291K NM_145017.2 NP_659454.2 Q7Z5V6 CK066_HUMAN protein phosphatase 1, regulatory subunit 32 311 GCTTGGCCGGGAGACTGTGGG 0.582000 17 105 0 0 0.000566183 0 0 RP1 6101 broad.mit.edu 37 8 55540655 55540655 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr8:55540655G>A ENST00000220676.1 + 4 4361 c.4213G>A c.(4213-4215)Gaa>Aaa p.E1405K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1405 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTGCCTAAGTGAAAAAGAAGC 0.318000 12 51 0 0 0.00136819 0 0 DDX52 11056 broad.mit.edu 37 17 35988707 35988707 + Missense_Mutation SNP C C T rs146312035 byFrequency TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr17:35988707C>T ENST00000349699.2 - 6 800 c.757G>A c.(757-759)Gag>Aag p.E253K DDX52_ENST00000394367.3_Missense_Mutation_p.E145K NM_007010.3 NP_008941.2 Q9Y2R4 DDX52_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 253 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3) 17 Breast(25;0.00637)|Ovarian(249;0.15) TTTATTAACTCTCTGTGAATC 0.313000 7 71 0 0 0.000157383 0 0 ATP10D 57205 broad.mit.edu 37 4 47525090 47525090 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr4:47525090C>T ENST00000273859.3 + 4 816 c.547C>T c.(547-549)Ctc>Ttc p.L183F ATP10D_ENST00000504445.1_Missense_Mutation_p.L183F NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 183 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 CTTTATTCGCCTCTCCTGCAA 0.393000 11 66 0 0 0.00136819 0 0 IGF2 3481 broad.mit.edu 37 11 2156739 2156739 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:2156739C>T ENST00000416167.2 - 2 1181 c.15G>A c.(13-15)atG>atA p.M5I IGF2_ENST00000381392.1_Missense_Mutation_p.M5I|IGF2_ENST00000381406.4_Missense_Mutation_p.M5I|IGF2_ENST00000434045.2_Missense_Mutation_p.M61I|IGF2_ENST00000418738.2_Missense_Mutation_p.M5I|IGF2_ENST00000381395.1_Missense_Mutation_p.M5I|IGF2_ENST00000300632.5_Missense_Mutation_p.M5I|IGF2_ENST00000381389.1_Missense_Mutation_p.M5I|IGF2_ENST00000337883.6_Missense_Mutation_p.M5I P01344 IGF2_HUMAN insulin-like growth factor 2 (somatomedin A) 5 glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development extracellular space growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1) 6 all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029) BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) TCGACTTCCCCATTGGGATTC 0.637000 4 18 0 0 0.000602214 0 0 TAS2R43 259289 broad.mit.edu 37 12 11244805 11244805 + Silent SNP A A T rs149617536 by1000genomes TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr12:11244805A>T ENST00000531678.1 - 1 107 c.24T>A c.(22-24)atT>atA p.I8I PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176884.2 NP_795365.2 P59537 T2R43_HUMAN taste receptor, type 2, member 43 8 detection of chemical stimulus involved in sensory perception of bitter taste cilium membrane|motile cilium bitter taste receptor activity endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) GACTGGAAAAAATGATGGGTA 0.378000 5 30 0 0 8.12818e-05 0 0 ERCC3 2071 broad.mit.edu 37 2 128047347 128047347 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:128047347G>A ENST00000493187.2 - 5 846 c.383C>T c.(382-384)cCc>cTc p.P128L ERCC3_ENST00000285398.2_Missense_Mutation_p.P192L P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 192 cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) TCGGATCACGGGGTCCTGGAG 0.532000 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 19 81 0 0 0.00188189 0 0 PABPC3 5042 broad.mit.edu 37 13 25671984 25671984 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr13:25671984C>T ENST00000281589.3 + 1 1685 c.1648C>T c.(1648-1650)Cct>Tct p.P550S NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 550 PABC. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) ATCTGCCCCTCCTCAAAAGCA 0.468000 14 99 0 0 0.000308642 0 0 CREBBP 1387 broad.mit.edu 37 16 3823809 3823809 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr16:3823809G>A ENST00000262367.5 - 13 3215 c.2406C>T c.(2404-2406)tcC>tcT p.S802S CREBBP_ENST00000382070.3_Silent_p.S764S NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 802 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TCGCCCCGCTGGATGACGGGA 0.607000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 7 57 0 0 0.000157383 0 0 IL36G 56300 broad.mit.edu 37 2 113742450 113742450 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:113742450G>A ENST00000259205.4 + 5 403 c.334G>A c.(334-336)Gag>Aag p.E112K IL36G_ENST00000376489.2_Missense_Mutation_p.E77K NM_019618.2 NP_062564.1 Q9NZH8 IL36G_HUMAN interleukin 36, gamma 112 cell-cell signaling extracellular space cytokine activity|interleukin-1 receptor antagonist activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1) 14 TGGCCAACCCGAGCCCGTGAA 0.493000 25 121 0 0 0.00127121 0 0 CD244 51744 broad.mit.edu 37 1 160801166 160801166 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:160801166C>T ENST00000368034.4 - 9 1246 c.1069G>A c.(1069-1071)Gag>Aag p.E357K CD244_ENST00000368033.3_Missense_Mutation_p.E362K|CD244_ENST00000322302.7_Missense_Mutation_p.E265K NM_001166663.1|NM_001166664.1|NM_016382.3 NP_001160135.1|NP_001160136.1|NP_057466.1 Q9BZW8 CD244_HUMAN CD244 molecule, natural killer cell receptor 2B4 362 blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 18 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TTCTCCAGCTCTTTGCGGCTC 0.473000 11 116 0 0 0.000422831 0 0 ATP8B4 79895 broad.mit.edu 37 15 50152396 50152396 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr15:50152396G>A ENST00000284509.6 - 28 3715 c.3574C>T c.(3574-3576)Ctg>Ttg p.L1192L ATP8B4_ENST00000559829.1_Silent_p.L1192L NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 1192 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TTGACTCACAGTTTCACTGTT 0.403000 23 115 0 0 0.000878237 0 0 PTPRK 5796 broad.mit.edu 37 6 128561213 128561213 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:128561213C>T ENST00000368227.3 - 5 1026 c.660G>A c.(658-660)ggG>ggA p.G220G PTPRK_ENST00000368207.3_Silent_p.G220G|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368226.4_Silent_p.G220G|PTPRK_ENST00000368215.3_Silent_p.G220G|PTPRK_ENST00000368213.5_Silent_p.G220G|PTPRK_ENST00000532331.1_Silent_p.G220G|PTPRK_ENST00000368210.3_Silent_p.G220G Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 220 Ig-like C2-type. 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) CAGCATCTCTCCCTGTGGCAA 0.443000 6 58 0 0 8.12818e-05 0 0 KIF5A 3798 broad.mit.edu 37 12 57969486 57969486 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr12:57969486C>T ENST00000455537.2 + 17 2243 c.1969C>T c.(1969-1971)Ctg>Ttg p.L657L KIF5A_ENST00000286452.5_Silent_p.L568L NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 657 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 GAAGCGGCACCTGGAAGAGTC 0.552000 17 139 0 0 0.00121646 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45566864 45566864 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr18:45566864C>T ENST00000588982.1 - 3 1116 c.615G>A c.(613-615)agG>agA p.R205R ZBTB7C_ENST00000332053.2_Silent_p.R205R|ZBTB7C_ENST00000535628.2_Silent_p.R205R|ZBTB7C_ENST00000590800.1_Silent_p.R205R|ZBTB7C_ENST00000586438.1_Silent_p.R205R A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 205 intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 CAGGGAAGTCCCTGGGGGTGT 0.572000 12 66 0 0 0.00185496 0 0 DNAH10 196385 broad.mit.edu 37 12 124350550 124350550 + Missense_Mutation SNP T T C TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr12:124350550T>C ENST00000409039.3 + 40 6768 c.6743T>C c.(6742-6744)gTt>gCt p.V2248A NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2248 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TGTGGAATGGTTTATGTGGAT 0.333000 7 73 0 0 0.000274275 0 0 KLKB1 3818 broad.mit.edu 37 4 187159439 187159439 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr4:187159439G>A ENST00000264690.6 + 6 705 c.518G>A c.(517-519)gGa>gAa p.G173E KLKB1_ENST00000513864.1_Missense_Mutation_p.G173E NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 173 Apple 2. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) TACAGTCCCGGAGGAACACCT 0.458000 6 51 0 0 0.000157383 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94668540 94668540 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:94668540C>T ENST00000260526.6 - 10 1070 c.888G>A c.(886-888)agG>agA p.R296R ARHGAP29_ENST00000370217.3_Silent_p.R296R NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 296 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TTTCATTTTTCCTTCCAAGTA 0.294000 8 88 0 0 0.000274275 0 0 DUSP23 54935 broad.mit.edu 37 1 159751976 159751976 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:159751976C>T ENST00000368107.1 + 2 399 c.301C>T c.(301-303)Cgc>Tgc p.R101C DUSP23_ENST00000368109.1_Missense_Mutation_p.R101C|DUSP23_ENST00000368108.3_Missense_Mutation_p.R101C Q9BVJ7 DUS23_HUMAN dual specificity phosphatase 23 101 Tyrosine-protein phosphatase. cytosol|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity lung(1) 1 all_hematologic(112;0.0537) GGGCTTTGGCCGCACTGGCAC 0.617000 5 45 0 0 8.12818e-05 0 0 CD177 57126 broad.mit.edu 37 19 43858513 43858513 + RNA SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr19:43858513C>T ENST00000378009.4 + 0 390 CD177_ENST00000607517.1_RNA|CD177_ENST00000378012.2_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) TCGTTAACTCCCTCCCGCTTT 0.672000 5 54 0 0 0.00116845 0 0 VSIG10 54621 broad.mit.edu 37 12 118517355 118517355 + Silent SNP A A G TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr12:118517355A>G ENST00000359236.5 - 4 997 c.721T>C c.(721-723)Ttg>Ctg p.L241L NM_019086.5 NP_061959.2 Q8N0Z9 VSI10_HUMAN V-set and immunoglobulin domain containing 10 241 Ig-like C2-type 3. integral to membrane endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1) 17 GTAAGCTGCAACATGAACGAT 0.552000 14 65 0 0 0.000308642 0 0 EDN1 1906 broad.mit.edu 37 6 12296257 12296257 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:12296257C>T ENST00000379375.5 + 5 863 c.596C>T c.(595-597)cCc>cTc p.P199L NM_001168319.1|NM_001955.4 NP_001161791.1|NP_001946.3 P05305 EDN1_HUMAN endothelin 1 199 artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction cytoplasm|extracellular space cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 13 all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12) all_hematologic(90;0.117) AAAGGCAAGCCCTCCAGAGAG 0.488000 14 158 0 0 0.000422831 0 0 SERPINI2 5276 broad.mit.edu 37 3 167159941 167159941 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr3:167159941G>A ENST00000476257.1 - 10 1472 c.1174C>T c.(1174-1176)Cct>Tct p.P392S SERPINI2_ENST00000461846.1_Missense_Mutation_p.P392S|SERPINI2_ENST00000264677.4_Missense_Mutation_p.P392S|SERPINI2_ENST00000471111.1_Missense_Mutation_p.P392S O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 392 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 TGGGTGTCAGGATTTGTCACT 0.323000 7 28 0 0 0.000274275 0 0 BAGE2 85319 broad.mit.edu 37 21 11047514 11047514 + RNA SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr21:11047514C>T ENST00000470054.1 - 0 740 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) GTACAGATTTCATAATTCGTT 0.348000 8 385 0 0 0.000274275 0 0 CASS4 57091 broad.mit.edu 37 20 55028110 55028110 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr20:55028110C>T ENST00000371336.3 + 5 2079 c.1878C>T c.(1876-1878)acC>acT p.T626T CASS4_ENST00000360314.3_Silent_p.T626T|CASS4_ENST00000434344.1_Intron NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 626 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 AAAAGAGTACCCCTTCCACTA 0.413000 6 32 0 0 8.12818e-05 0 0 UNC13B 10497 broad.mit.edu 37 9 35382413 35382413 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr9:35382413C>T ENST00000378495.3 + 20 2690 c.2468C>T c.(2467-2469)aCc>aTc p.T823I UNC13B_ENST00000378496.4_Missense_Mutation_p.T823I|UNC13B_ENST00000396787.1_Missense_Mutation_p.T835I NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 823 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) GTGATGAGCACCTTACTGGCC 0.502000 17 89 0 0 0.000566183 0 0 PTPN13 5783 broad.mit.edu 37 4 87684145 87684145 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr4:87684145C>T ENST00000436978.1 + 24 4299 c.3819C>T c.(3817-3819)acC>acT p.T1273T PTPN13_ENST00000427191.2_Silent_p.T1254T|PTPN13_ENST00000316707.6_Silent_p.T1082T|PTPN13_ENST00000411767.2_Silent_p.T1273T|PTPN13_ENST00000511467.1_Silent_p.T1273T 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) 1273 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) GTGACCAAACCTGGCAGGAAT 0.478000 5 46 0 0 0.00116845 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 169640 169640 + Missense_Mutation SNP A A C TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr5:169640A>C ENST00000283426.6 + 12 2644 c.2594A>C c.(2593-2595)cAc>cCc p.H865P NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 865 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CACCAGCAGCACTTCCTCCGG 0.602000 7 94 0 0 8.12818e-05 0 0 PRDM9 56979 broad.mit.edu 37 5 23518034 23518034 + Nonsense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr5:23518034C>T ENST00000296682.3 + 5 528 c.346C>T c.(346-348)Cag>Tag p.Q116* NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 116 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GCGTAAACACCAGAAGGTAAG 0.408000 HNSCC(3;0.000094) 16 110 0 0 0.000566183 0 0 ITGB4 3691 broad.mit.edu 37 17 73748645 73748645 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr17:73748645C>T ENST00000200181.3 + 32 4282 c.4095C>T c.(4093-4095)gtC>gtT p.V1365V ITGB4_ENST00000449880.2_Silent_p.V1365V|ITGB4_ENST00000339591.3_Silent_p.V1365V|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000579662.1_Silent_p.V1365V|ITGB4_ENST00000450894.3_Silent_p.V1365V NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 1365 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GGCCCAGCGTCTCCGATGACA 0.612000 5 56 0 0 0.00116845 0 0 ANGPTL2 23452 broad.mit.edu 37 9 129870958 129870958 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr9:129870958C>T ENST00000373425.3 - 2 670 c.53G>A c.(52-54)gGa>gAa p.G18E RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000259351.5_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373436.1_Intron NM_012098.2 NP_036230.1 Q9UKU9 ANGL2_HUMAN angiopoietin-like 2 18 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 TGCAACAGCTCCCATGGCAGC 0.547000 6 26 0 0 8.12818e-05 0 0 EPHA7 2045 broad.mit.edu 37 6 93967959 93967959 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:93967959C>T ENST00000369303.4 - 11 2152 c.1968G>A c.(1966-1968)ggG>ggA p.G656G NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 656 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CATCTCTTTTCCCTGGAAGTT 0.388000 18 120 0 0 0.00152264 0 0 HIVEP1 3096 broad.mit.edu 37 6 12121818 12121818 + Missense_Mutation SNP A A G TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:12121818A>G ENST00000379388.2 + 4 2122 c.1790A>G c.(1789-1791)cAg>cGg p.Q597R NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 597 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) AAGGACCTTCAGGTGACAAAC 0.507000 10 77 0 0 0.00185496 0 0 MUC16 94025 broad.mit.edu 37 19 9064628 9064628 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr19:9064628C>T ENST00000397910.4 - 3 23021 c.22818G>A c.(22816-22818)agG>agA p.R7606R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7608 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGCAGAAATCCTGGGGATGG 0.478000 10 41 0 0 0.000673444 0 0 SLC2A14 144195 broad.mit.edu 37 12 7982503 7982503 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr12:7982503G>A ENST00000543909.1 - 10 1200 c.441C>T c.(439-441)ggC>ggT p.G147G SLC2A14_ENST00000535295.1_Silent_p.G38G|SLC2A14_ENST00000431042.2_Silent_p.G124G|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000539924.1_Silent_p.G162G|SLC2A14_ENST00000542546.1_Silent_p.G38G|SLC2A14_ENST00000340749.5_Silent_p.G124G|SLC2A14_ENST00000396589.2_Silent_p.G147G Q8TDB8 GTR14_HUMAN solute carrier family 2 (facilitated glucose transporter), member 14 147 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) TAACCAAGCGGCCCAGGATCA 0.532000 7 31 0 0 0.000442599 0 0 PNPT1 87178 broad.mit.edu 37 2 55913524 55913524 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:55913524G>A ENST00000447944.2 - 3 364 c.278C>T c.(277-279)tCc>tTc p.S93F NM_033109.3 NP_149100.2 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 93 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CATAAACTGGGAAGGGGAAGG 0.378000 10 37 0 0 0.000978159 0 0 CHD5 26038 broad.mit.edu 37 1 6172219 6172219 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:6172219G>A ENST00000262450.3 - 35 5220 c.5121C>T c.(5119-5121)atC>atT p.I1707I CHD5_ENST00000378021.1_Silent_p.I564I NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1707 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CCCCGTCCGCGATGTTGAACA 0.517000 7 32 0 0 8.12818e-05 0 0 XKR6 286046 broad.mit.edu 37 8 10755821 10755821 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr8:10755821G>A ENST00000416569.2 - 3 1593 c.1567C>T c.(1567-1569)Ccc>Tcc p.P523S XKR6_ENST00000304437.2_Missense_Mutation_p.P244S NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 523 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) ACATCGGGGGGCAAAGGGATG 0.602000 7 29 0 0 0.000157383 0 0 VWA7 80737 broad.mit.edu 37 6 31742303 31742303 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:31742303C>T ENST00000375686.3 - 5 948 c.711G>A c.(709-711)ccG>ccA p.P237P VWA7_ENST00000447450.1_Silent_p.P237P|VWA7_ENST00000375688.4_Silent_p.P237P|VWA7_ENST00000467576.1_5'UTR NM_025258.2 NP_079534.2 Q9Y334 G7C_HUMAN von Willebrand factor A domain containing 7 237 extracellular region CTGGAGGTTTCGGGGGATGAG 0.542000 15 157 0 0 0.000566183 0 0 ZNF512B 57473 broad.mit.edu 37 20 62595261 62595261 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr20:62595261G>A ENST00000450537.1 - 9 1546 c.1486C>T c.(1486-1488)Cct>Tct p.P496S ZNF512B_ENST00000217130.3_Missense_Mutation_p.P496S|ZNF512B_ENST00000369888.1_Missense_Mutation_p.P496S Q96KM6 Z512B_HUMAN zinc finger protein 512B 496 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1) 33 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) TGCTCTTCAGGGCCACCTGTG 0.652000 7 36 0 0 8.12818e-05 0 0 UGT2B7 7364 broad.mit.edu 37 4 69964304 69964304 + Nonsense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr4:69964304G>A ENST00000305231.7 + 2 814 c.768G>A c.(766-768)tgG>tgA p.W256* UGT2B7_ENST00000508661.1_Nonsense_Mutation_p.W256*|UGT2B7_ENST00000509763.1_3'UTR NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 256 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CTGACGTATGGCTTATTCGAA 0.408000 7 90 0 0 0.000442599 0 0 MZF1 7593 broad.mit.edu 37 19 59073677 59073677 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr19:59073677G>A ENST00000215057.2 - 6 2527 c.1967C>T c.(1966-1968)cCc>cTc p.P656L AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.P656L|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600534.1_RNA NM_001267033.1|NM_198055.1 NP_001253962.1|NP_932172.1 P28698 MZF1_HUMAN myeloid zinc finger 1 656 viral reproduction nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182) GCCGCACTCGGGGCAGGCGAA 0.692000 3 7 0 0 6.4e-05 0 0 ZEB2 9839 broad.mit.edu 37 2 145147437 145147437 + Missense_Mutation SNP G G C TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:145147437G>C ENST00000558170.2 - 10 4410 c.3226C>G c.(3226-3228)Cac>Gac p.H1076D ZEB2_ENST00000303660.4_Missense_Mutation_p.H1076D|ZEB2_ENST00000539609.3_Missense_Mutation_p.H1052D|ZEB2_ENST00000409487.3_Missense_Mutation_p.H1076D NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 1076 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) GAATACCTGTGATTCATGTGC 0.592000 5 49 0 0 0.000602214 0 0 SPAG11B 10407 broad.mit.edu 37 8 7308681 7308681 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr8:7308681C>T ENST00000297498.2 - 3 421 c.255G>A c.(253-255)agG>agA p.R85R SPAG11B_ENST00000528168.1_Silent_p.R32R|SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000398462.2_Intron|SPAG11B_ENST00000458665.1_Intron|SPAG11B_ENST00000361111.2_Intron NM_016512.3 NP_057596.1 Q08648 SG11B_HUMAN sperm associated antigen 11B 85 spermatogenesis extracellular region large_intestine(2)|lung(3)|urinary_tract(1) 6 COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236) CCACACAGATCCTAAATGAGG 0.463000 8 214 0 0 0.000274275 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54925472 54925472 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr3:54925472C>T ENST00000474759.1 + 25 2289 c.2241C>T c.(2239-2241)acC>acT p.T747T CACNA2D3_ENST00000490478.1_Silent_p.T653T|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000288197.5_Silent_p.T747T|CACNA2D3_ENST00000415676.2_Silent_p.T747T NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 747 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) AGCAGCTCACCAATCAGTAAG 0.507000 11 29 0 0 0.000978159 0 0 RSPH6A 81492 broad.mit.edu 37 19 46307945 46307945 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr19:46307945G>A ENST00000221538.3 - 3 1360 c.1218C>T c.(1216-1218)tcC>tcT p.S406S RSPH6A_ENST00000597055.1_Silent_p.S406S|RSPH6A_ENST00000600188.1_Silent_p.S142S NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 406 intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 GCTTCCATACGGACTTAGGGA 0.647000 5 33 0 0 0.00116845 0 0 PCLO 27445 broad.mit.edu 37 7 82390062 82390062 + Nonsense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:82390062G>A ENST00000333891.8 - 24 15518 c.15181C>T c.(15181-15183)Caa>Taa p.Q5061* NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4984 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ACCTTTTTTTGGGTAGAAATA 0.303000 4 23 0 0 0.00024832 0 0 DNM3 26052 broad.mit.edu 37 1 172348277 172348277 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:172348277C>T ENST00000358155.4 + 18 2189 c.2013C>T c.(2011-2013)atC>atT p.I671I DNM3_ENST00000367731.1_Silent_p.I667I|DNM3_ENST00000355305.5_Silent_p.I677I NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 677 GED. endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 ACAAATGTATCCGAGATCTAA 0.398000 5 24 0 0 0.00116845 0 0 CER1 9350 broad.mit.edu 37 9 14720112 14720112 + Silent SNP G G A rs142384565 TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr9:14720112G>A ENST00000380911.3 - 2 824 c.780C>T c.(778-780)tcC>tcT p.S260S NM_005454.2 NP_005445.1 O95813 CER1_HUMAN cerberus 1, DAN family BMP antagonist 260 BMP signaling pathway extracellular space cytokine activity endometrium(2)|large_intestine(3)|lung(6) 11 GBM - Glioblastoma multiforme(50;3.16e-06) CTGGGATAAAGGAATCCTGGG 0.468000 9 46 0 0 0.000673444 0 0 UGT2B28 54490 broad.mit.edu 37 4 70155457 70155457 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr4:70155457G>A ENST00000335568.5 + 4 1079 c.1077G>A c.(1075-1077)caG>caA p.Q359Q UGT2B28_ENST00000511240.1_Intron NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 359 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) GGATACCCCAGAATGACCTTC 0.353000 8 21 0 0 0.000274275 0 0 EAF2 55840 broad.mit.edu 37 3 121573544 121573544 + Missense_Mutation SNP C C T rs143406125 TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr3:121573544C>T ENST00000273668.2 + 3 283 c.212C>T c.(211-213)cCa>cTa p.P71L EAF2_ENST00000451944.2_Missense_Mutation_p.P71L NM_018456.4 NP_060926.2 Q96CJ1 EAF2_HUMAN ELL associated factor 2 71 Necessary for interaction with ELL. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1) 9 GBM - Glioblastoma multiforme(114;0.0972) GGTTCAACTCCACCAGTAACT 0.323000 6 55 0 0 0.00116845 0 0 FFAR4 338557 broad.mit.edu 37 10 95347082 95347082 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr10:95347082C>T ENST00000371483.4 + 4 906 c.850C>T c.(850-852)Ctc>Ttc p.L284F FFAR4_ENST00000371481.4_Missense_Mutation_p.L268F|FFAR4_ENST00000604414.1_Intron NM_181745.3 NP_859529.2 free fatty acid receptor 4 CACCCTCTTCCTCCTCATGGT 0.567000 14 94 0 0 0.00185496 0 0 SAMHD1 25939 broad.mit.edu 37 20 35547838 35547838 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr20:35547838G>A ENST00000262878.4 - 7 980 c.781C>T c.(781-783)Cct>Tct p.P261S SAMHD1_ENST00000373694.5_Missense_Mutation_p.P46S NM_015474.3 NP_056289.2 Q9Y3Z3 SAMH1_HUMAN SAM domain and HD domain 1 261 HD. defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) TCTTCTTCAGGGATGAGACCA 0.348000 15 63 0 0 0.000308642 0 0 ATG2A 23130 broad.mit.edu 37 11 64668062 64668062 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:64668062G>A ENST00000421419.2 - 31 4488 c.4374C>T c.(4372-4374)tcC>tcT p.S1458S ATG2A_ENST00000377264.3_Silent_p.S1456S Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1456 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 CAGAGCAGCGGGAAGGGGAGC 0.662000 4 42 0 0 0.00024832 0 0 CACNA1E 777 broad.mit.edu 37 1 181741317 181741317 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr1:181741317G>A ENST00000526775.1 + 36 5197 c.5032G>A c.(5032-5034)Gat>Aat p.D1678N CACNA1E_ENST00000367573.2_Missense_Mutation_p.D1697N|CACNA1E_ENST00000367570.1_Missense_Mutation_p.D1697N|CACNA1E_ENST00000367567.4_Missense_Mutation_p.D1304N|CACNA1E_ENST00000360108.3_Missense_Mutation_p.D1678N|CACNA1E_ENST00000357570.5_Missense_Mutation_p.D1648N|CACNA1E_ENST00000358338.5_Missense_Mutation_p.D1629N NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1697 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CTGCGGCACCGATCTGGCCTA 0.557000 9 88 0 0 0.000673444 0 0 ALPK2 115701 broad.mit.edu 37 18 56184319 56184319 + Missense_Mutation SNP C C T rs151328897 TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr18:56184319C>T ENST00000361673.3 - 9 5974 c.5761G>A c.(5761-5763)Gag>Aag p.E1921K NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1921 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TGCAGCTCCTCCGTGGCGATC 0.547000 6 60 0 0 0.00116845 0 0 BRPF3 27154 broad.mit.edu 37 6 36168987 36168987 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:36168987C>T ENST00000357641.6 + 2 1141 c.888C>T c.(886-888)atC>atT p.I296I BRPF3_ENST00000443324.2_Silent_p.I296I|BRPF3_ENST00000534694.1_Silent_p.I296I|BRPF3_ENST00000534400.1_Silent_p.I296I|BRPF3_ENST00000543502.1_Silent_p.I296I|BRPF3_ENST00000339717.7_Silent_p.I296I NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 296 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 CCATCTGGATCCCTGAAGTCT 0.547000 8 61 0 0 0.000673444 0 0 EBF2 64641 broad.mit.edu 37 8 25708162 25708162 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr8:25708162G>A ENST00000520164.1 - 15 2181 c.1644C>T c.(1642-1644)ccC>ccT p.P548P EBF2_ENST00000408929.3_Silent_p.P400P|EBF2_ENST00000535548.1_3'UTR NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 548 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) GGGAGCCTTGGGGCCTGATGA 0.522000 11 96 0 0 0.000978159 0 0 TENM4 26011 broad.mit.edu 37 11 78380468 78380468 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:78380468G>A ENST00000278550.7 - 32 7384 c.6922C>T c.(6922-6924)Cac>Tac p.H2308Y NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 TGCAGGTGGTGGCTGTGGCTG 0.602000 12 76 0 0 0.00136819 0 0 CATSPERG 57828 broad.mit.edu 37 19 38858697 38858697 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr19:38858697C>T ENST00000409235.3 + 26 3055 c.2940C>T c.(2938-2940)agC>agT p.S980S CATSPERG_ENST00000410018.1_Silent_p.S940S|CATSPERG_ENST00000215069.4_3'UTR NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 980 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 GGACCAACAGCCTTATCTGGA 0.612000 5 71 0 0 0.00116845 0 0 OR56A3 390083 broad.mit.edu 37 11 5968762 5968762 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:5968762C>T ENST00000329564.6 + 1 193 c.186C>T c.(184-186)ccC>ccT p.P62P NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCACCAGCCCCTGTACTACC 0.612000 13 82 0 0 0.00136819 0 0 SCAF11 9169 broad.mit.edu 37 12 46320763 46320763 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr12:46320763G>A ENST00000465950.1 - 1 2985 c.1776C>T c.(1774-1776)tcC>tcT p.S592S SCAF11_ENST00000549162.1_Silent_p.S715S|SCAF11_ENST00000419565.2_Silent_p.S907S|SCAF11_ENST00000369367.3_Silent_p.S907S Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 907 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 TCTGGGACCTGGATTTTTCTC 0.453000 7 99 0 0 0.000274275 0 0 KIAA1841 84542 broad.mit.edu 37 2 61361297 61361297 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:61361297G>A ENST00000295031.5 + 21 2431 c.2054G>A c.(2053-2055)gGc>gAc p.G685D NM_032506.2 NP_115895.2 Q6NSI8 K1841_HUMAN KIAA1841 0 breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 25 Epithelial(17;0.193) cccagagacggcactgtgtct 0.403000 9 39 0 0 0.000442599 0 0 EPO 2056 broad.mit.edu 37 7 100320727 100320727 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:100320727G>A ENST00000252723.2 + 5 734 c.553G>A c.(553-555)Ggg>Agg p.G185R NM_000799.2 NP_000790.2 P01588 EPO_HUMAN erythropoietin 185 blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction extracellular space erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1) 12 Lung NSC(181;0.041)|all_lung(186;0.0581) Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) GCTGTACACAGGGGAGGCCTG 0.587000 6 59 0 0 8.12818e-05 0 0 GRM8 2918 broad.mit.edu 37 7 126086239 126086239 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr7:126086239C>T ENST00000339582.2 - 10 3426 c.2618G>A c.(2617-2619)gGa>gAa p.G873E GRM8_ENST00000444921.2_Missense_Mutation_p.G873E|GRM8_ENST00000358373.3_Missense_Mutation_p.G873E O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 873 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) TCTGTCATTTCCTTTTTGGAT 0.438000 HNSCC(24;0.065) 21 120 0 0 0.00121646 0 0 ANKS1A 23294 broad.mit.edu 37 6 35046409 35046409 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:35046409C>T ENST00000360359.3 + 14 2397 c.2259C>T c.(2257-2259)ctC>ctT p.L753L ANKS1A_ENST00000535627.1_Intron|ANKS1A_ENST00000470698.1_3'UTR NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 753 SAM 1. cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 GGAAGCTGCTCCAGGCGGCAC 0.647000 7 65 0 0 0.000442599 0 0 FRG1B 284802 broad.mit.edu 37 20 29632694 29632694 + Missense_Mutation SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr20:29632694G>A ENST00000278882.3 + 8 889 c.509G>A c.(508-510)gGa>gAa p.G170E FRG1B_ENST00000358464.4_Missense_Mutation_p.G170E endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CAGAAAGATGGATTTTTGCAT 0.318000 14 848 0 0 0.000219431 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883592 228883592 + Missense_Mutation SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr2:228883592C>T ENST00000392056.3 - 7 2024 c.1978G>A c.(1978-1980)Gaa>Aaa p.E660K SPHKAP_ENST00000344657.5_Missense_Mutation_p.E660K NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 660 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) ACGACATTTTCTGAGCACAGG 0.433000 13 112 0 0 0.000308642 0 0 LILRA3 11026 broad.mit.edu 37 19 54802724 54802724 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr19:54802724C>T ENST00000391745.1 - 9 1084 c.768G>A c.(766-768)ggG>ggA p.G256G LILRA3_ENST00000251390.3_Silent_p.G239G|LILRA3_ENST00000391744.3_Silent_p.G175G leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCAGCTTCTCCCCAGGGGCCA 0.597000 5 28 0 0 8.12818e-05 0 0 DIAPH3 81624 broad.mit.edu 37 13 60545066 60545066 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr13:60545066G>A ENST00000400324.4 - 16 2099 c.1879C>T c.(1879-1881)Cta>Tta p.L627L DIAPH3_ENST00000400330.1_Silent_p.L627L|DIAPH3_ENST00000377908.2_Silent_p.L616L|DIAPH3_ENST00000267215.4_Silent_p.L627L|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Silent_p.L557L|DIAPH3_ENST00000400320.1_Silent_p.L581L NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 627 FH1.|Pro-rich. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) AGGATTGGTAGAGGAGGAGAA 0.458000 5 77 0 0 0.00116845 0 0 CATSPER1 117144 broad.mit.edu 37 11 65793650 65793650 + Silent SNP G G A TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr11:65793650G>A ENST00000312106.5 - 1 338 c.201C>T c.(199-201)caC>caT p.H67H NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 67 His-rich. cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 AGGCTTGGTCGTGGAAGTCTT 0.607000 11 83 0 0 0.00136819 0 0 AKAP1 8165 broad.mit.edu 37 17 55193620 55193620 + Silent SNP C C T TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr17:55193620C>T ENST00000337714.3 + 7 2663 c.2430C>T c.(2428-2430)atC>atT p.I810I AKAP1_ENST00000571629.1_Silent_p.I810I|AKAP1_ENST00000572557.1_Silent_p.I810I|AKAP1_ENST00000539273.1_Silent_p.I810I NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 810 Tudor. blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) TCCGGCAAATCAGGTGAGCGG 0.582000 10 59 0 0 0.000673444 0 0 MBOAT1 154141 broad.mit.edu 37 6 20102606 20102606 + Frame_Shift_Del DEL T T - TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr6:20102606delT ENST00000541730.1 - 12 1547 c.952delA c.(952-954)tafs p.I319fs MBOAT1_ENST00000324607.7_Frame_Shift_Del_p.I468fs Q6ZNC8 MBOA1_HUMAN membrane bound O-acyltransferase domain containing 1 468 phospholipid biosynthetic process integral to membrane acyltransferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5) 20 all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109) OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454) AATAGTATTATCAGGAGACTT 0.353 9 90 --- --- --- --- MYO18B 84700 broad.mit.edu 37 22 26317359 26317360 + Frame_Shift_Ins INS - - AA TCGA-BF-A1PX-01A-12D-A19A-08 TCGA-BF-A1PX-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aed7006f-6ea1-4251-b6a2-17919eae8030 c341afa8-58ab-493f-a0fd-4d44754effff g.chr22:26317359_26317360insAA ENST00000335473.7 + 34 5750_5751 c.5500_5501insAA c.(5500-5502)gaafs p.E1834fs MYO18B_ENST00000407587.2_Frame_Shift_Ins_p.E1835fs|MYO18B_ENST00000536101.1_Frame_Shift_Ins_p.E1834fs NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1834 Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GGAGGAGCTGGAGAAAGTGCAC 0.574 2 4 --- --- --- ---