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 HMSD 284293 broad.mit.edu 37 18 61627535 61627535 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr18:61627535C>T ENST00000408945.3 + 4 568 c.366C>T c.(364-366)ttC>ttT p.F122F HMSD_ENST00000481726.1_Intron NM_001123366.1 NP_001116838.1 A8MTL9 HMSD_HUMAN histocompatibility (minor) serpin domain containing 122 extracellular region serine-type endopeptidase inhibitor activity p.F122F(1) kidney(1)|large_intestine(2)|lung(2)|stomach(1) 6 TATTCTATTTCGATAATATTT 0.299000 7 28 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21628966 21628966 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:21628966C>T ENST00000328843.6 + 12 2145 c.2114C>T c.(2113-2115)cCc>cTc p.P705L DNAH11_ENST00000409508.3_Missense_Mutation_p.P705L Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 705 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TTGAATCAACCCTTGGTTAAA 0.318000 Kartagener syndrome 27 58 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134825406 134825406 + Missense_Mutation SNP T T C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:134825406T>C ENST00000398015.3 + 4 1292 c.922T>C c.(922-924)Tac>Cac p.Y308H EPHB1_ENST00000488154.1_3'UTR|EPHB1_ENST00000493838.1_5'UTR NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 308 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 GACCGGTTATTACCGAGCGGA 0.587000 28 40 0 0 1 0 0 PENK 5179 broad.mit.edu 37 8 57358297 57358297 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:57358297G>A ENST00000518770.1 - 3 369 c.216C>T c.(214-216)ccC>ccT p.P72P PENK_ENST00000523051.1_Intron|PENK_ENST00000314922.3_Intron|PENK_ENST00000451791.2_Intron P01210 PENK_HUMAN proenkephalin 131 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) GCCGCGCGGTGGGCCGGAGGC 0.667000 23 37 0 0 1 0 0 LGSN 51557 broad.mit.edu 37 6 63990388 63990388 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:63990388G>A ENST00000370657.4 - 4 1101 c.1068C>T c.(1066-1068)agC>agT p.S356S LGSN_ENST00000370658.5_3'UTR Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 356 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) CCATCAGGCAGCTGAGCGCAG 0.498000 72 48 0 0 1 0 0 SRD5A2 6716 broad.mit.edu 37 2 31754392 31754392 + RNA SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:31754392G>A ENST00000405650.1 - 0 848 AL133247.2_ENST00000435713.1_RNA P31213 S5A2_HUMAN steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity Acute lymphoblastic leukemia(172;0.155) Azelaic Acid(DB00548)|Dutasteride(DB01126) GTGGTGAAAAGCTCGCAGCCC 0.463000 21 33 0 0 1 0 0 PLD5 200150 broad.mit.edu 37 1 242271053 242271053 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:242271053C>T ENST00000442594.2 - 9 1392 c.883G>A c.(883-885)Gaa>Aaa p.E295K PLD5_ENST00000536534.1_Missense_Mutation_p.E387K|PLD5_ENST00000427495.1_Missense_Mutation_p.E325K NM_152666.2 NP_689879.2 Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 387 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) GGATCAGTTTCCTTCCAGAAG 0.383000 70 197 0 0 1 0 0 TRPC5 7224 broad.mit.edu 37 X 111025282 111025282 + Missense_Mutation SNP A A T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chrX:111025282A>T ENST00000262839.2 - 8 2899 c.1981T>A c.(1981-1983)Ttc>Atc p.F661I NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 661 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 ATGATGTTGAAAGGAGGTGGC 0.478000 97 26 0 0 1 0 0 NEO1 4756 broad.mit.edu 37 15 73585784 73585784 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr15:73585784C>T ENST00000339362.5 + 27 4243 c.3796C>T c.(3796-3798)Cac>Tac p.H1266Y NEO1_ENST00000261908.6_Missense_Mutation_p.H1266Y|NEO1_ENST00000560262.1_Intron|NEO1_ENST00000558964.1_Missense_Mutation_p.H1255Y Q92859 NEO1_HUMAN neogenin 1 1266 axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 CCATCATTTCCACTCCAGCAG 0.522000 72 138 0 0 1 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52940709 52940709 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:52940709G>A ENST00000371544.3 - 13 2784 c.2522C>T c.(2521-2523)tCg>tTg p.S841L ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S841L NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 841 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 TGGGTCAGGCGACTTAGACAA 0.398000 46 92 0 0 1 0 0 ARL14 80117 broad.mit.edu 37 3 160395381 160395381 + Missense_Mutation SNP G G A rs35634980 byFrequency TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:160395381G>A ENST00000320767.2 + 1 434 c.247G>A c.(247-249)Gat>Aat p.D83N NM_025047.2 NP_079323.1 Q8N4G2 ARL14_HUMAN ADP-ribosylation factor-like 14 83 D -> N (in dbSNP:rs35634980). small GTPase mediated signal transduction intracellular GTP binding lung(6) 6 Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05) TGAGAACACCGATGGGCTGGT 0.433000 32 54 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21033871 21033871 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:21033871C>T ENST00000381545.3 + 12 1633 c.1414C>T c.(1414-1416)Cca>Tca p.P472S SLCO1B3_ENST00000261196.2_Missense_Mutation_p.P472S|LST3_ENST00000540229.1_Missense_Mutation_p.P472S|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.P472S|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 472 Kazal-like. bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) TCAGTGGGAACCAGTCTGTGG 0.373000 61 111 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175067695 175067695 + Nonsense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:175067695C>T ENST00000239462.4 + 9 2196 c.2083C>T c.(2083-2085)Cag>Tag p.Q695* NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 695 Fibronectin type-III 5. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GAAGGGGGACCAGGAGAGCAA 0.592000 35 113 0 0 1 0 0 OR2W1 26692 broad.mit.edu 37 6 29012930 29012930 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:29012930G>A ENST00000377175.1 - 1 87 c.23C>T c.(22-24)tCt>tTt p.S8F NM_030903.3 NP_112165.1 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, member 1 8 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 ACCATGTAAAGAACTATAATT 0.403000 31 88 0 0 1 0 0 LMX1A 4009 broad.mit.edu 37 1 165173261 165173261 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:165173261G>A ENST00000342310.3 - 9 1387 c.1005C>T c.(1003-1005)ttC>ttT p.F335F LMX1A_ENST00000294816.2_Silent_p.F335F|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000367893.4_Silent_p.F335F NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 335 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CCAGGTCATGGAAAAGGGGCT 0.507000 44 108 0 0 1 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4445773 4445773 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:4445773G>A ENST00000254718.4 - 22 3379 c.3073C>T c.(3073-3075)Cgg>Tgg p.R1025W MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R1025W Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 1025 nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 TGACGGGGCCGCACCGGGCCC 0.617000 5 146 0 0 1 0 0 KLHDC2 23588 broad.mit.edu 37 14 50244939 50244939 + Missense_Mutation SNP G G C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:50244939G>C ENST00000298307.5 + 5 1372 c.511G>C c.(511-513)Gta>Cta p.V171L KLHDC2_ENST00000557247.1_Missense_Mutation_p.V171L|KLHDC2_ENST00000554589.1_Missense_Mutation_p.V171L|KLHDC2_ENST00000553538.1_3'UTR NM_014315.2 NP_055130.1 Q9Y2U9 KLDC2_HUMAN kelch domain containing 2 171 nucleus protein binding endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(31;0.000959)|Breast(41;0.0117) TGAAGATAAAGTATTGGGAAC 0.308000 5 130 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216274397 216274397 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:216274397C>T ENST00000354785.4 - 15 2557 c.2188G>A c.(2188-2190)Gaa>Aaa p.E730K FN1_ENST00000421182.1_Missense_Mutation_p.E730K|FN1_ENST00000359671.1_Missense_Mutation_p.E730K|FN1_ENST00000357009.2_Missense_Mutation_p.E730K|FN1_ENST00000356005.4_Missense_Mutation_p.E730K|FN1_ENST00000443816.1_Missense_Mutation_p.E730K|FN1_ENST00000346544.3_Missense_Mutation_p.E730K|FN1_ENST00000345488.5_Missense_Mutation_p.E730K|FN1_ENST00000336916.4_Missense_Mutation_p.E730K|FN1_ENST00000323926.6_Missense_Mutation_p.E730K|FN1_ENST00000357867.4_Missense_Mutation_p.E730K|FN1_ENST00000446046.1_Missense_Mutation_p.E730K|FN1_ENST00000432072.2_Missense_Mutation_p.E730K P02751 FINC_HUMAN fibronectin 1 730 Fibronectin type-III 2. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCTGTGATTTCGGTCACAGAT 0.542000 18 40 0 0 1 0 0 GRIN2C 2905 broad.mit.edu 37 17 72843566 72843566 + Missense_Mutation SNP T T C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:72843566T>C ENST00000293190.5 - 9 2028 c.1882A>G c.(1882-1884)Atg>Gtg p.M628V GRIN2C_ENST00000347612.4_Missense_Mutation_p.M628V NM_000835.3 NP_000826.2 Q14957 NMDE3_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2C 628 glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 33 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) ACCAGAACCATGATCTTGCTG 0.577000 60 83 0 0 1 0 0 OR5W2 390148 broad.mit.edu 37 11 55681259 55681259 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:55681259G>A ENST00000344514.1 - 1 799 c.800C>T c.(799-801)tCt>tTt p.S267F NM_001001960.1 NP_001001960.1 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, member 2 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TTGATCTAGAGAATAGGAAGA 0.438000 39 60 0 0 1 0 0 OR2L3 391192 broad.mit.edu 37 1 248224758 248224758 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:248224758C>T ENST00000359959.3 + 1 775 c.775C>T c.(775-777)Cta>Tta p.L259L OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 259 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) CTACACTTATCTACGTCCAAG 0.493000 7 277 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599500 136599500 + Silent SNP G G A rs137966151 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:136599500G>A ENST00000531224.1 - 4 771 c.519C>T c.(517-519)ccC>ccT p.P173P BCLAF1_ENST00000527759.1_Silent_p.P171P|BCLAF1_ENST00000530767.1_Silent_p.P173P|BCLAF1_ENST00000527536.1_Silent_p.P173P|BCLAF1_ENST00000392348.2_Silent_p.P171P|BCLAF1_ENST00000353331.4_Silent_p.P171P NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 173 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TCTCTTCTTGGGGTTCCCCTT 0.408000 72 209 0 0 1 0 0 TDGF1 6997 broad.mit.edu 37 3 46620608 46620608 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:46620608C>T ENST00000296145.5 + 2 792 c.59C>T c.(58-60)tCt>tTt p.S20F LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Missense_Mutation_p.S4F NM_003212.3 NP_003203.1 P13385 TDGF1_HUMAN teratocarcinoma-derived growth factor 1 20 activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation anchored to membrane|cell surface|extrinsic to plasma membrane growth factor activity cervix(2)|endometrium(1)|kidney(1)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) ATGGCCATTTCTAAAGTCTTT 0.393000 64 98 0 0 1 0 0 C17orf74 201243 broad.mit.edu 37 17 7329715 7329715 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:7329715C>T ENST00000333870.3 + 3 479 c.405C>T c.(403-405)cgC>cgT p.R135R RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Intron NM_175734.4 NP_783861.3 Q0P670 CQ074_HUMAN chromosome 17 open reading frame 74 135 Arg-rich. integral to membrane cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 22 Prostate(122;0.157) gccgttgtcgccgtcgctgct 0.592000 40 76 0 0 1 0 0 ZIM3 114026 broad.mit.edu 37 19 57646362 57646362 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:57646362C>T ENST00000269834.1 - 5 1728 c.1343G>A c.(1342-1344)gGa>gAa p.G448E NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 448 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) TTCAGAACATCCATAAGGTTT 0.408000 68 124 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153578164 153578164 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chrX:153578164G>A ENST00000422373.1 - 45 7629 c.7381C>T c.(7381-7383)Ccc>Tcc p.P2461S FLNA_ENST00000344736.4_Missense_Mutation_p.P2429S|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000360319.4_Missense_Mutation_p.P2461S|FLNA_ENST00000369856.3_Missense_Mutation_p.P602S|FLNA_ENST00000369850.3_Missense_Mutation_p.P2469S NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 2469 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACCTTGGAGGGGCCGTCAATG 0.612000 OREG0003592 type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 26 10 0 0 1 0 0 SNAPC2 6618 broad.mit.edu 37 19 7987148 7987148 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:7987148G>A ENST00000221573.6 + 4 652 c.601G>A c.(601-603)Gac>Aac p.D201N SNAPC2_ENST00000597584.1_5'UTR NM_003083.3 NP_003074.1 Q13487 SNPC2_HUMAN small nuclear RNA activating complex, polypeptide 2, 45kDa 201 snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 CACTGAAGAAGACTTTGCTGT 0.592000 62 111 0 0 1 0 0 CDHR1 92211 broad.mit.edu 37 10 85967974 85967974 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:85967974C>T ENST00000372117.3 + 11 1111 c.1008C>T c.(1006-1008)acC>acT p.T336T CDHR1_ENST00000332904.3_Silent_p.T336T|CDHR1_ENST00000440770.2_Silent_p.T95T NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 336 Cadherin 3. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 CCCAGGCCACCGTCCCAGTCA 0.582000 33 49 0 0 1 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3140453 3140453 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr16:3140453C>T ENST00000252463.2 - 5 904 c.817G>A c.(817-819)Gaa>Aaa p.E273K ZSCAN10_ENST00000538082.2_Missense_Mutation_p.E191K|ZSCAN10_ENST00000575108.1_5'UTR NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 273 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 TCCAAAATTTCACTGCTGCCA 0.647000 101 163 0 0 1 0 0 OR2A12 346525 broad.mit.edu 37 7 143792629 143792629 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:143792629G>A ENST00000408949.2 + 1 489 c.429G>A c.(427-429)ctG>ctA p.L143L NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) GCACTGTCCTGGCCTCAACTT 0.448000 79 109 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144943558 144943558 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:144943558G>A ENST00000525985.1 - 2 3935 c.3864C>T c.(3862-3864)ttC>ttT p.F1288F P58107 EPIPL_HUMAN epiplakin 1 1288 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGTCAACAAGGAAGCCAGATG 0.667000 44 104 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113599432 113599432 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:113599432C>T ENST00000297405.5 - 23 3992 c.3748G>A c.(3748-3750)Gga>Aga p.G1250R CSMD3_ENST00000343508.3_Missense_Mutation_p.G1210R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1146R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1250R NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1250 CUB 7. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGCAAAATTCCTTCATTATTC 0.348000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 44 130 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 73012771 73012771 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:73012771C>T ENST00000261180.4 + 13 2383 c.2287C>T c.(2287-2289)Cct>Tct p.P763S NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 763 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 AGCTCTTTATCCTCTAGATAA 0.363000 59 74 0 0 1 0 0 LINC01410 103352539 broad.mit.edu 37 9 66459813 66459813 + RNA SNP G G A rs10752517 by1000genomes TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:66459813G>A ENST00000424345.1 + 0 73 tccaggatttgtccccagtgc 0.343000 3 18 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995048 140995048 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chrX:140995048G>A ENST00000285879.4 + 4 2144 c.1858G>A c.(1858-1860)Gaa>Aaa p.E620K MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 620 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCAGGGGGAGGAATTCCAGTC 0.562000 HNSCC(15;0.026) 238 79 0 0 1 0 0 FBXO40 51725 broad.mit.edu 37 3 121341742 121341742 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:121341742C>T ENST00000338040.4 + 3 1880 c.1466C>T c.(1465-1467)cCc>cTc p.P489L NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 489 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding p.P489H(1) NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) GATGAGTTCCCCCTGCACTTC 0.502000 12 29 0 0 1 0 0 MIR329-2 574409 broad.mit.edu 37 14 101493486 101493486 + RNA SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:101493486G>A ENST00000385029.1 + 0 50 NR_029968.1 TATTGAGGACGAAACACACCT 0.458000 63 104 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40940389 40940389 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:40940389C>T ENST00000246914.5 + 10 2025 c.2004C>T c.(2002-2004)ctC>ctT p.L668L WNK4_ENST00000587705.1_3'UTR NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 668 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) GGAGGAATCTCCGGCGCAGAC 0.567000 26 65 0 0 1 0 0 ATP8A1 10396 broad.mit.edu 37 4 42466932 42466932 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:42466932G>A ENST00000381668.5 - 26 2717 c.2486C>T c.(2485-2487)tCc>tTc p.S829F ATP8A1_ENST00000264449.10_Missense_Mutation_p.S814F NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 829 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) GTAGTCAGAGGAATTAGCTGC 0.443000 31 37 0 0 1 0 0 PPM1D 8493 broad.mit.edu 37 17 58740832 58740832 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:58740832C>T ENST00000305921.3 + 6 1969 c.1737C>T c.(1735-1737)acC>acT p.T579T NM_003620.3 NP_003611.1 O15297 PPM1D_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1D 579 negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 15 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) TTAAACTCACCATGCGACGCA 0.448000 OREG0031485 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 39 67 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28737419 28737419 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr18:28737419C>T ENST00000257197.3 - 3 527 c.266G>A c.(265-267)aGg>aAg p.R89K DSC1_ENST00000257198.5_Missense_Mutation_p.R89K|RP11-408H20.2_ENST00000581836.1_RNA NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 89 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) AAAACTTTTCCTTTCAGAAGA 0.433000 33 52 0 0 1 0 0 MRPL11 65003 broad.mit.edu 37 11 66204361 66204361 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:66204361G>A ENST00000329819.4 - 5 572 c.493C>T c.(493-495)Cta>Tta p.L165L MRPL11_ENST00000524576.1_Intron|MRPL11_ENST00000430466.2_Intron|MRPL11_ENST00000310999.7_Intron NM_170739.2 NP_733935.1 Q9Y3B7 RM11_HUMAN mitochondrial ribosomal protein L11 0 translation structural constituent of ribosome endometrium(3)|lung(2)|ovary(1)|prostate(1) 7 CCATTTCTTAGAACATTTGCA 0.468000 39 63 0 0 1 0 0 HNRNPUL2 221092 broad.mit.edu 37 11 62490138 62490138 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:62490138C>T ENST00000301785.5 - 6 1222 c.1030G>A c.(1030-1032)Gaa>Aaa p.E344K RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.E344K NM_001079559.2 NP_001073027.1 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 2 344 B30.2/SPRY. cell killing nucleus ATP binding|nucleic acid binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 TGTCCATTTTCTGCCTTGAGT 0.428000 47 74 0 0 1 0 0 TGFB3 7043 broad.mit.edu 37 14 76429781 76429781 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:76429781C>T ENST00000238682.3 - 5 1101 c.804G>A c.(802-804)aaG>aaA p.K268K TGFB3_ENST00000556285.1_Silent_p.K268K NM_003239.2 NP_003230.1 P10600 TGFB3_HUMAN transforming growth factor, beta 3 268 cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway extracellular matrix|platelet alpha granule lumen growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 11 BRCA - Breast invasive adenocarcinoma(234;0.0169) CCTTCTGCTTCTTGAGGCGCC 0.572000 52 94 0 0 1 0 0 ANKFN1 162282 broad.mit.edu 37 17 54431397 54431397 + Silent SNP A A G TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:54431397A>G ENST00000566473.2 + 5 600 c.600A>G c.(598-600)gaA>gaG p.E200E ANKFN1_ENST00000318698.2_Silent_p.E200E Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 200 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 GGGCCCGAGAAAGTCCACACT 0.473000 9 29 0 0 1 0 0 PRL 5617 broad.mit.edu 37 6 22287760 22287760 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:22287760C>T ENST00000306482.1 - 5 1073 c.555G>A c.(553-555)caG>caA p.Q185Q RP3-404K8.2_ENST00000561912.1_RNA NM_000948.5|NM_001163558.2 NP_000939.1|NP_001157030.1 P01236 PRL_HUMAN prolactin 185 cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth cytosol|extracellular region hormone activity|prolactin receptor binding NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1) 16 Ovarian(93;0.163) CATCAGCCATCTGCAGGGATG 0.423000 28 84 0 0 1 0 0 F7 2155 broad.mit.edu 37 13 113770101 113770101 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr13:113770101C>T ENST00000375581.3 + 6 593 c.558C>T c.(556-558)tcC>tcT p.S186S F7_ENST00000541084.1_Silent_p.S117S|F7_ENST00000346342.3_Silent_p.S164S NM_000131.4 NP_000122.1 P08709 FA7_HUMAN coagulation factor VII (serum prothrombin conversion accelerator) 186 EGF-like 2. S -> F (in FA7D). anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) ACGGGGTGTCCTGCACACCCA 0.602000 29 41 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56468796 56468796 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:56468796C>T ENST00000288221.6 - 2 495 c.240G>A c.(238-240)atG>atA p.M80I NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 80 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TTCCCAGAGTCATAGTGCCCT 0.507000 89 113 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212488718 212488718 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:212488718G>A ENST00000342788.4 - 18 2441 c.2131C>T c.(2131-2133)Cgt>Tgt p.R711C ERBB4_ENST00000402597.1_Missense_Mutation_p.R701C|ERBB4_ENST00000436443.1_Missense_Mutation_p.R711C NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 711 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.R711C(1) NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TTCAAAATACGAAGTTGAGCT 0.423000 TSP Lung(8;0.080) 28 46 0 0 1 0 0 PCYOX1 51449 broad.mit.edu 37 2 70502244 70502244 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:70502244G>A ENST00000433351.2 + 4 676 c.648G>A c.(646-648)atG>atA p.M216I PCYOX1_ENST00000505044.2_Missense_Mutation_p.M139I|PCYOX1_ENST00000264441.5_Missense_Mutation_p.M216I|PCYOX1_ENST00000545138.1_Missense_Mutation_p.M138I NM_016297.3 NP_057381.3 Q9UHG3 PCYOX_HUMAN prenylcysteine oxidase 1 216 prenylated protein catabolic process lysosome|very-low-density lipoprotein particle prenylcysteine oxidase activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6) 15 TCAATGAAATGATTGCTCCTG 0.448000 70 134 0 0 1 0 0 INPP4B 8821 broad.mit.edu 37 4 143081585 143081585 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:143081585G>A ENST00000513000.1 - 18 1922 c.1489C>T c.(1489-1491)Ccc>Tcc p.P497S INPP4B_ENST00000308502.4_Missense_Mutation_p.P497S|INPP4B_ENST00000262992.4_Missense_Mutation_p.P497S|INPP4B_ENST00000509777.1_Missense_Mutation_p.P497S|INPP4B_ENST00000508116.1_Missense_Mutation_p.P497S NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa 497 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) TGGTCTTGGGGACTGCTCTCC 0.507000 57 86 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5903093 5903093 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr20:5903093G>A ENST00000378961.4 + 4 507 c.303G>A c.(301-303)agG>agA p.R101R NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 101 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 CCTCCAGCAGGGGAGAGGCAG 0.552000 22 39 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198267481 198267481 + Missense_Mutation SNP T T A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:198267481T>A ENST00000335508.5 - 14 1967 c.1876A>T c.(1876-1878)Aac>Tac p.N626Y NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 626 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding p.N626Y(2)|p.N626D(1) NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) GCTGTTGTGTTACGGACATAC 0.438000 Mis myelodysplastic syndrome 26 65 0 0 1 0 0 DFNB59 494513 broad.mit.edu 37 2 179323240 179323240 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:179323240C>T ENST00000409117.3 + 5 909 c.553C>T c.(553-555)Cac>Tac p.H185Y DFNB59_ENST00000605419.1_3'UTR|DFNB59_ENST00000375129.4_Missense_Mutation_p.H185Y NM_001042702.3 NP_001036167.1 Q0ZLH3 PJVK_HUMAN deafness, autosomal recessive 59 185 sensory perception of sound breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) AATATAGTTTCACTTTATGGA 0.318000 30 69 0 0 1 0 0 CD300LG 146894 broad.mit.edu 37 17 41926251 41926251 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:41926251C>T ENST00000317310.4 + 2 410 c.369C>T c.(367-369)ttC>ttT p.F123F CD300LG_ENST00000377203.4_Silent_p.F123F|CD300LG_ENST00000293396.8_Silent_p.F123F|CD300LG_ENST00000588884.1_Silent_p.F123F|CD300LG_ENST00000586233.1_Silent_p.F123F|CD300LG_ENST00000539718.1_Silent_p.F123F NM_145273.3 NP_660316.2 Q6UXG3 CLM9_HUMAN CD300 molecule-like family member g 123 apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane receptor activity central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4) 19 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) TCTCTCTGTTCGTCTTTCCAG 0.557000 28 52 0 0 1 0 0 NTNG1 22854 broad.mit.edu 37 1 107866985 107866985 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:107866985G>A ENST00000370067.1 + 3 955 c.328G>A c.(328-330)Gaa>Aaa p.E110K NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370074.4_Missense_Mutation_p.E110K|NTNG1_ENST00000370065.1_Missense_Mutation_p.E110K|NTNG1_ENST00000542803.1_Missense_Mutation_p.E110K|NTNG1_ENST00000370072.3_Missense_Mutation_p.E110K|NTNG1_ENST00000370061.3_Missense_Mutation_p.E110K|NTNG1_ENST00000370070.2_Missense_Mutation_p.E110K|NTNG1_ENST00000370066.1_Missense_Mutation_p.E110K|NTNG1_ENST00000370073.2_Missense_Mutation_p.E110K|NTNG1_ENST00000370068.1_Missense_Mutation_p.E110K|NTNG1_ENST00000370071.2_Missense_Mutation_p.E110K Q9Y2I2 NTNG1_HUMAN netrin G1 110 Laminin N-terminal. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) GTTTGATTTTGAAGGAAGACA 0.478000 105 183 0 0 1 0 0 PPP1CA 5499 broad.mit.edu 37 11 67166016 67166016 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:67166016G>A ENST00000376745.4 - 7 1131 c.983C>T c.(982-984)gCc>gTc p.A328V PPP1CA_ENST00000312989.7_Missense_Mutation_p.A339V|PPP1CA_ENST00000358239.4_Missense_Mutation_p.A284V|PPP1CA_ENST00000532446.1_5'UTR NM_001008709.1|NM_002708.3 NP_001008709.1|NP_002699.1 P62136 PP1A_HUMAN protein phosphatase 1, catalytic subunit, alpha isozyme 328 cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity breast(1)|lung(2)|pancreas(1)|urinary_tract(3) 7 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) CTATTTCTTGGCTTTGGCGGA 0.607000 18 41 0 0 1 0 0 COLQ 8292 broad.mit.edu 37 3 15495392 15495392 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:15495392C>T ENST00000383788.5 - 16 1367 c.1242G>A c.(1240-1242)gtG>gtA p.V414V COLQ_ENST00000383781.4_Silent_p.V404V|COLQ_ENST00000383785.2_3'UTR|COLQ_ENST00000603808.1_Silent_p.V415V|COLQ_ENST00000435459.2_Silent_p.V404V|COLQ_ENST00000383786.5_Silent_p.V380V|COLQ_ENST00000383787.2_Silent_p.V405V NM_005677.3 NP_005668.2 Q9Y215 COLQ_HUMAN collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase 414 acetylcholine catabolic process in synaptic cleft|asymmetric protein localization basal lamina|cell junction|collagen|extracellular space|synaptic cleft endometrium(2)|large_intestine(4)|lung(10)|skin(3) 19 CACAGTCCTCCACACCCTCAT 0.587000 8 23 0 0 1 0 0 CCDC136 64753 broad.mit.edu 37 7 128452344 128452344 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:128452344C>T ENST00000297788.4 + 13 2886 c.2519C>T c.(2518-2520)cCt>cTt p.P840L CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron NM_022742.4 NP_073579.4 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 840 integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 GACGAGGAACCTGCTGAGCCT 0.522000 9 22 0 0 1 0 0 CBX2 84733 broad.mit.edu 37 17 77758698 77758698 + Missense_Mutation SNP T T G TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:77758698T>G ENST00000310942.4 + 5 1560 c.1456T>G c.(1456-1458)Tcc>Gcc p.S486A NM_005189.2 NP_005180.1 Q14781 CBX2_HUMAN chromobox homolog 2 486 cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CCCGTCAGTGTCCGTTCAGAC 0.627000 26 45 0 0 1 0 0 NPY4R 5540 broad.mit.edu 37 10 47087225 47087225 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:47087225G>A ENST00000374312.1 + 3 861 c.442G>A c.(442-444)Ggc>Agc p.G148S NPY4R_ENST00000395716.1_Missense_Mutation_p.G148S NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 CAACCCAACAGGCTGGAAGCC 0.592000 60 220 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189586498 189586498 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:189586498G>A ENST00000264731.3 + 8 1211 c.1122G>A c.(1120-1122)acG>acA p.T374T TP63_ENST00000392463.2_Silent_p.T280T|TP63_ENST00000392461.3_Silent_p.T280T|TP63_ENST00000437221.1_Silent_p.T280T|TP63_ENST00000440651.2_Intron|TP63_ENST00000392460.3_Silent_p.T374T|TP63_ENST00000456148.1_Intron|TP63_ENST00000354600.5_Silent_p.T280T|TP63_ENST00000320472.5_Silent_p.T374T|TP63_ENST00000418709.2_Silent_p.T374T|TP63_ENST00000382063.4_Silent_p.T289T|TP63_ENST00000449992.1_Silent_p.T195T NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 374 Interaction with HIPK2. anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) GTGATGGTACGAAGCGCCGTA 0.498000 HNSCC(45;0.13) 59 115 0 0 1 0 0 SOHLH1 402381 broad.mit.edu 37 9 138586222 138586222 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:138586222G>A ENST00000298466.5 - 7 1017 c.957C>T c.(955-957)ggC>ggT p.G319G SOHLH1_ENST00000425225.1_Intron NM_001012415.2 NP_001012415.2 Q5JUK2 SOLH1_HUMAN spermatogenesis and oogenesis specific basic helix-loop-helix 1 319 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1) 12 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05) TGAACCCAGGGCCCCACTCAC 0.637000 21 39 0 0 1 0 0 UGT2A3 79799 broad.mit.edu 37 4 69796373 69796373 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:69796373C>T ENST00000251566.4 - 5 1225 c.1195G>A c.(1195-1197)Gat>Aat p.D399N UGT2A3_ENST00000420231.2_Missense_Mutation_p.D110N NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 399 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GCTATGTTATCAAGCTGATCA 0.413000 64 102 0 0 1 0 0 IRGC 56269 broad.mit.edu 37 19 44223062 44223062 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:44223062C>T ENST00000244314.5 + 2 551 c.352C>T c.(352-354)Cca>Tca p.P118S NM_019612.3 NP_062558.1 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 118 membrane GTP binding|hydrolase activity, acting on acid anhydrides central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) AGCCGGCTCTCCAGGCTGCCC 0.652000 21 25 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55538746 55538746 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:55538746C>T ENST00000220676.1 + 4 2452 c.2304C>T c.(2302-2304)tcC>tcT p.S768S NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 768 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) CTCAAAATTCCAAGGTTCAAG 0.284000 24 37 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55533728 55533728 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:55533728G>A ENST00000220676.1 + 2 350 c.202G>A c.(202-204)Gat>Aat p.D68N NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 68 Doublecortin 1. 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 p.D68N(1) 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) TGCTCTGCTGGATAACTTGTC 0.597000 71 109 0 0 1 0 0 NMNAT2 23057 broad.mit.edu 37 1 183273853 183273853 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:183273853C>T ENST00000294868.4 - 1 156 c.22G>A c.(22-24)Gaa>Aaa p.E8K NMNAT2_ENST00000287713.6_Intron NM_170706.3 NP_733820.1 Q9BZQ4 NMNA2_HUMAN nicotinamide nucleotide adenylyltransferase 2 0 water-soluble vitamin metabolic process Golgi membrane|nucleus ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2) 18 GCCTGAATTTCCTCTAGTTCC 0.542000 101 98 0 0 1 0 0 PIH1D1 55011 broad.mit.edu 37 19 49952896 49952896 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:49952896G>A ENST00000262265.5 - 3 408 c.173C>T c.(172-174)aCc>aTc p.T58I PIH1D1_ENST00000596049.1_Missense_Mutation_p.T58I NM_017916.2 NP_060386.1 Q9NWS0 PIHD1_HUMAN PIH1 domain containing 1 58 box C/D snoRNP assembly pre-snoRNP complex NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1) 11 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244) CGAGGAGTTGGTCTTTATGCA 0.537000 25 46 0 0 1 0 0 FAM81B 153643 broad.mit.edu 37 5 94728527 94728527 + Missense_Mutation SNP A A G TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:94728527A>G ENST00000283357.5 + 2 200 c.154A>G c.(154-156)Act>Gct p.T52A NM_152548.2 NP_689761.2 Q96LP2 FA81B_HUMAN family with sequence similarity 81, member B 52 central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473) all cancers(79;1.04e-16) TGCCTCTCCAACTGCGACTGC 0.408000 13 28 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196438152 196438152 + Missense_Mutation SNP A A T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:196438152A>T ENST00000367433.5 - 6 532 c.431T>A c.(430-432)aTa>aAa p.I144K KCNT2_ENST00000294725.8_Missense_Mutation_p.I144K|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.I144K Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 144 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TGCATTAATTATTTCCAAGAT 0.299000 17 17 0 0 1 0 0 SMCO3 440087 broad.mit.edu 37 12 14959082 14959082 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:14959082G>A ENST00000316048.2 - 2 605 c.533C>T c.(532-534)gCc>gTc p.A178V C12orf60_ENST00000330828.2_Intron|C12orf60_ENST00000527783.1_Intron NM_001013698.2 NP_001013720.2 single-pass membrane protein with coiled-coil domains 3 TCCCAGGATGGCACGGACAAT 0.423000 62 92 0 0 1 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111576501 111576501 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:111576501C>T ENST00000261486.5 - 10 1078 c.802G>A c.(802-804)Gaa>Aaa p.E268K RP11-526F3.1_ENST00000504004.1_RNA NM_022140.3 NP_071423.3 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 268 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding p.E268K(1) breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) AATGAGGTTTCGTTACACTAA 0.363000 20 47 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 154 130 0 0 1 0 0 MAU2 23383 broad.mit.edu 37 19 19454710 19454710 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:19454710C>T ENST00000392313.5 + 10 1084 c.1038C>T c.(1036-1038)tgC>tgT p.C346C MAU2_ENST00000262815.8_Silent_p.C346C|MAU2_ENST00000585823.2_3'UTR NM_015329.3 NP_056144.3 Q9Y6X3 SCC4_HUMAN MAU2 sister chromatid cohesion factor 346 cell division|maintenance of mitotic sister chromatid cohesion chromatin|nucleoplasm|SMC loading complex protein N-terminus binding NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 18 TCATCATGTGCCGCCTTGTCA 0.602000 61 102 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64681116 64681116 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:64681116C>T ENST00000357395.3 + 107 19560 c.8416C>T c.(8416-8418)Cac>Tac p.H2806Y SYNE2_ENST00000344113.4_Missense_Mutation_p.H6421Y|SYNE2_ENST00000458046.2_Missense_Mutation_p.H55Y|SYNE2_ENST00000555022.1_Missense_Mutation_p.H299Y|SYNE2_ENST00000394768.2_Missense_Mutation_p.H2806Y|SYNE2_ENST00000358025.3_Missense_Mutation_p.H6421Y|SYNE2_ENST00000555002.1_Missense_Mutation_p.H3055Y|SYNE2_ENST00000554805.1_Missense_Mutation_p.H204Y|SYNE2_ENST00000554584.1_Missense_Mutation_p.H6363Y|ESR2_ENST00000542956.1_Intron Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6421 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GGAGTGGGACCACACAGGCGA 0.642000 49 71 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10348323 10348323 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:10348323C>T ENST00000255381.2 - 37 5546 c.5436G>A c.(5434-5436)ggG>ggA p.G1812G CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1812 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TCTGCTTCTTCCCACCCTTCA 0.557000 68 112 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33560282 33560282 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:33560282G>A ENST00000228567.3 - 3 815 c.519C>T c.(517-519)tcC>tcT p.S173S SYT10_ENST00000535526.1_5'UTR NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 173 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) GTCTTCGGAAGGAACTGTGGC 0.438000 48 88 0 0 1 0 0 CHRNA2 1135 broad.mit.edu 37 8 27319175 27319175 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:27319175G>A ENST00000407991.1 - 7 2169 c.1561C>T c.(1561-1563)Ctg>Ttg p.L521L CHRNA2_ENST00000240132.2_Silent_p.L506L|CHRNA2_ENST00000520933.2_Silent_p.L521L NM_000742.3 NP_000733.2 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 2 (neuronal) 521 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) AACGGAGGCAGAAAGAGGCCG 0.567000 46 88 0 0 1 0 0 ATP11A 23250 broad.mit.edu 37 13 113536329 113536329 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr13:113536329C>T ENST00000375630.2 + 29 3615 c.3527C>T c.(3526-3528)tCc>tTc p.S1176F ATP11A_ENST00000487903.1_3'UTR|ATP11A_ENST00000375645.3_3'UTR NM_032189.3 NP_115565.3 P98196 AT11A_HUMAN ATPase, class VI, type 11A 0 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) CACTGCAGTTCCATCCCAAGT 0.622000 64 107 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136567097 136567097 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:136567097C>T ENST00000264162.2 - 8 2830 c.2820G>A c.(2818-2820)ggG>ggA p.G940G NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 940 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) TCACATTGCTCCCTGGTGTGT 0.542000 48 69 0 0 1 0 0 PIGZ 80235 broad.mit.edu 37 3 196678748 196678748 + Missense_Mutation SNP G G C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:196678748G>C ENST00000412723.1 - 2 301 c.155C>G c.(154-156)cCg>cGg p.P52R PIGZ_ENST00000443835.1_Missense_Mutation_p.P52R NM_025163.2 NP_079439.2 Q86VD9 PIGZ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Z 52 GPI anchor biosynthetic process integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 14 all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00603) GCCCGTCTGCGGAAGGAGACA 0.572000 20 39 0 0 1 0 0 OR1J4 26219 broad.mit.edu 37 9 125281920 125281920 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:125281920C>T ENST00000340750.1 + 1 501 c.501C>T c.(499-501)tcC>tcT p.S167S NM_001004452.1 NP_001004452.1 Q8NGS1 OR1J4_HUMAN olfactory receptor, family 1, subfamily J, member 4 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 20 CCCAGCTGTCCTTTTGTGCTG 0.493000 32 79 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33560247 33560247 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:33560247G>A ENST00000228567.3 - 3 850 c.554C>T c.(553-555)tCc>tTc p.S185F SYT10_ENST00000535526.1_Missense_Mutation_p.S4F NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 185 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) ATCAACACTGGAAACCTGCAT 0.433000 60 95 0 0 1 0 0 WDR52 55779 broad.mit.edu 37 3 113082376 113082376 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:113082376C>T ENST00000393845.2 - 20 2785 c.2719G>A c.(2719-2721)Gga>Aga p.G907R WDR52_ENST00000295868.2_Missense_Mutation_p.G907R NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 907 breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 GTTTCAATTCCAAACTATAGG 0.343000 27 42 0 0 1 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45567266 45567266 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr18:45567266C>T ENST00000588982.1 - 3 714 c.213G>A c.(211-213)caG>caA p.Q71Q ZBTB7C_ENST00000535628.2_Silent_p.Q71Q|ZBTB7C_ENST00000332053.2_Silent_p.Q71Q|ZBTB7C_ENST00000590800.1_Silent_p.Q71Q|ZBTB7C_ENST00000586438.1_Silent_p.Q71Q A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 71 BTB. 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 AGACGTAGGGCTGGCTGGCTA 0.592000 47 44 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64488199 64488199 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:64488199C>T ENST00000358025.3 + 36 5548 c.5318C>T c.(5317-5319)cCt>cTt p.P1773L SYNE2_ENST00000344113.4_Missense_Mutation_p.P1773L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.P1773L NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1773 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GCCCTGTCTCCTTCTGACAGC 0.488000 27 55 0 0 1 0 0 MEIS1 4211 broad.mit.edu 37 2 66798424 66798424 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:66798424G>A ENST00000407092.2 + 12 1618 c.1161G>A c.(1159-1161)atG>atA p.M387I MEIS1_ENST00000495021.2_3'UTR|MEIS1_ENST00000409517.1_3'UTR|MEIS1_ENST00000272369.9_3'UTR|MEIS1_ENST00000488550.1_3'UTR|MEIS1_ENST00000398506.2_Missense_Mutation_p.M385I|MEIS1_ENST00000444274.2_3'UTR O00470 MEIS1_HUMAN Meis homeobox 1 15 Required for transcriptional activation (By similarity). sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 24 GTGGTCCAATGGGTGTGAGTA 0.493000 7 17 0 0 1 0 0 CENPP 401541 broad.mit.edu 37 9 95099878 95099878 + Silent SNP A A G TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:95099878A>G ENST00000375587.3 + 3 860 c.345A>G c.(343-345)acA>acG p.T115T NM_001012267.1 NP_001012267.1 Q6IPU0 CENPP_HUMAN centromere protein P 115 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase chromosome, centromeric region|cytosol|nucleoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1) 16 ACATGGTTACATTTCAACTTG 0.333000 66 93 0 0 1 0 0 UBN1 29855 broad.mit.edu 37 16 4925382 4925382 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr16:4925382C>T ENST00000396658.4 + 14 3674 c.2971C>T c.(2971-2973)Ccg>Tcg p.P991S UBN1_ENST00000545171.1_Missense_Mutation_p.P991S|UBN1_ENST00000262376.6_Missense_Mutation_p.P991S|UBN1_ENST00000590769.1_Missense_Mutation_p.P991S NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 991 Ser-rich. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 GCTGACCTCGCCGTCCCTAAA 0.572000 63 115 0 0 1 0 0 CNR2 1269 broad.mit.edu 37 1 24201912 24201912 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:24201912G>A ENST00000536471.1 - 3 454 c.196C>T c.(196-198)Cgg>Tgg p.R66W CNR2_ENST00000374472.4_Missense_Mutation_p.R66W P34972 CNR2_HUMAN cannabinoid receptor 2 (macrophage) 66 behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2) 26 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) GAGGGCTTCCGGCGGAGTTGG 0.547000 39 76 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28543603 28543603 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:28543603C>T ENST00000452236.2 - 3 1496 c.879G>A c.(877-879)ggG>ggA p.G293G NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 293 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 TATCTGTTTCCCCATTTACAG 0.408000 78 239 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200944036 200944036 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:200944036G>A ENST00000332129.2 - 33 4897 c.4581C>T c.(4579-4581)atC>atT p.I1527I KIF21B_ENST00000360529.5_Silent_p.I1527I|KIF21B_ENST00000461742.2_Silent_p.I1540I|KIF21B_ENST00000422435.2_Silent_p.I1540I NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1540 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 GCGCATTGGGGATTTGCTGTG 0.642000 44 116 0 0 1 0 0 RAF1 5894 broad.mit.edu 37 3 12645699 12645699 + Missense_Mutation SNP G G A rs80338796 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:12645699G>A ENST00000251849.4 - 7 1209 c.770C>T c.(769-771)tCg>tTg p.S257L RAF1_ENST00000542177.1_Missense_Mutation_p.S176L|RAF1_ENST00000442415.2_Missense_Mutation_p.S257L|RAF1_ENST00000534997.1_Missense_Mutation_p.S42L NM_002880.3 NP_002871.1 P04049 RAF1_HUMAN v-raf-1 murine leukemia viral oncogene homolog 1 257 S -> L (in NS5 and LEOPARD2; shows in vitro greater kinase activity and enhanced ERK activation than wild-type). activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity p.S257L(3)|p.S257W(1) ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 32 Sorafenib(DB00398) TGTGGATGTCGACCTCTGCCT 0.527000 T SRGAP3 pilocytic astrocytoma Noonan syndrome 37 62 0 0 1 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64722308 64722308 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chrX:64722308G>A ENST00000338957.4 + 5 1797 c.1730G>A c.(1729-1731)cGg>cAg p.R577Q ZC3H12B_ENST00000423889.3_Missense_Mutation_p.R566Q NM_001010888.3 NP_001010888.3 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 566 endonuclease activity|nucleic acid binding|zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GTGTATGCCCGGAATCCTAAC 0.468000 22 3 0 0 1 0 0 MSL3P1 151507 broad.mit.edu 37 2 234774686 234774686 + RNA SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:234774686C>T ENST00000438684.1 - 0 1428 NR_024322.1 GTTTTGTGCTCTGGATAAAAA 0.423000 4 1 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 132021829 132021829 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:132021829C>T ENST00000356920.5 + 15 2895 c.2801C>T c.(2800-2802)tCc>tTc p.S934F PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 934 Actin-like. ATP binding GCCTCCAGCTCCTCCCTAGAG 0.622000 8 392 0 0 1 0 0 SYT16 83851 broad.mit.edu 37 14 62550966 62550966 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:62550966C>T ENST00000430451.2 + 5 1684 c.1487C>T c.(1486-1488)tCa>tTa p.S496L NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 496 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GATAGTACTTCATCCACGCAG 0.552000 65 103 0 0 1 0 0 NOD2 64127 broad.mit.edu 37 16 50763780 50763780 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr16:50763780C>T ENST00000300589.2 + 11 3123 c.3018C>T c.(3016-3018)gcC>gcT p.A1006A NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 1006 activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|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 cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) TCCTGCAGGCCCTTGAAAGGA 0.493000 22 38 0 0 1 0 0 HGFAC 3083 broad.mit.edu 37 4 3446379 3446379 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:3446379G>A ENST00000382774.3 + 7 875 c.760G>A c.(760-762)Ggc>Agc p.G254S HGFAC_ENST00000511533.1_Missense_Mutation_p.G254S NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator 254 EGF-like 2. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CCTGAACGGGGGCACCTGCCA 0.721000 10 12 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23232545 23232545 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:23232545G>A ENST00000400191.3 + 10 1849 c.1831G>A c.(1831-1833)Gag>Aag p.E611K EPHB2_ENST00000374630.3_Missense_Mutation_p.E611K|EPHB2_ENST00000374627.1_Missense_Mutation_p.E606K|EPHB2_ENST00000374632.3_Missense_Mutation_p.E612K NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 611 axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) GGCAGTGCGGGAGTTTGCCAA 0.522000 16 38 0 0 1 0 0 PTPRH 5794 broad.mit.edu 37 19 55708576 55708576 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:55708576C>T ENST00000376350.3 - 9 1921 c.1899G>A c.(1897-1899)gaG>gaA p.E633E PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Silent_p.E455E NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 633 Fibronectin type-III 7. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) GTTCCAGGGCCTCCACTTTGT 0.582000 48 75 0 0 1 0 0 SYT3 84258 broad.mit.edu 37 19 51135724 51135724 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:51135724C>T ENST00000338916.4 - 2 1126 c.493G>A c.(493-495)Gac>Aac p.D165N SYT3_ENST00000593901.1_Missense_Mutation_p.D165N|SYT3_ENST00000544769.1_Missense_Mutation_p.D165N|SYT3_ENST00000600079.1_Missense_Mutation_p.D165N NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III 165 cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) GGATACGAGTCCATGTCCAAG 0.647000 19 38 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713875 142713875 + RNA SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:142713875G>A ENST00000369381.2 - 0 730 TCCTGATTATGAAAATCCTAA 0.299000 10 105 0 0 1 0 0 MGAT5 4249 broad.mit.edu 37 2 135095839 135095839 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:135095839C>T ENST00000409645.1 + 7 907 c.655C>T c.(655-657)Cgt>Tgt p.R219C MGAT5_ENST00000281923.2_Missense_Mutation_p.R219C Q09328 MGT5A_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 219 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) GGCGGAAATTCGTACAGATTT 0.368000 17 50 0 0 1 0 0 LOC93432 93432 broad.mit.edu 37 7 141896588 141896588 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:141896588C>T ENST00000477922.3 + 40 4658 c.4604C>T c.(4603-4605)tCc>tTc p.S1535F endometrium(1)|lung(5) 6 TATCCATTTTCCAGAAACCAC 0.463000 6 17 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111463936 111463936 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:111463936G>A ENST00000265162.5 + 12 2179 c.1837G>A c.(1837-1839)Gga>Aga p.G613R NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 613 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding p.G613*(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TAATCCTAGTGGAAATGCTTT 0.383000 39 89 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69058566 69058566 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:69058566C>T ENST00000288368.4 + 34 4487 c.4210C>T c.(4210-4212)Cat>Tat p.H1404Y NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1404 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GTTTAAAATTCATCCTGTTCT 0.318000 43 70 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31809560 31809560 + Nonsense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:31809560C>T ENST00000446923.2 + 7 1640 c.1249C>T c.(1249-1251)Caa>Taa p.Q417* ZEB1_ENST00000542815.3_Nonsense_Mutation_p.Q366*|ZEB1_ENST00000560721.2_Nonsense_Mutation_p.Q413*|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Nonsense_Mutation_p.Q433*|ZEB1_ENST00000361642.5_Nonsense_Mutation_p.Q434* NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 433 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) GGAGAATAATCAAGCCAATCT 0.383000 30 62 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42085041 42085041 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:42085041G>A ENST00000395925.3 - 6 852 c.768C>T c.(766-768)ccC>ccT p.P256P GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 256 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 TGGCAGCTGAGGGAATAATGT 0.557000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 64 115 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101375456 101375456 + Nonsense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:101375456G>A ENST00000344327.3 - 2 668 c.244C>T c.(244-246)Cga>Tga p.R82* TRPC6_ENST00000526713.1_5'UTR|TRPC6_ENST00000532133.1_Nonsense_Mutation_p.R82*|TRPC6_ENST00000348423.4_Nonsense_Mutation_p.R82*|TRPC6_ENST00000360497.4_Nonsense_Mutation_p.R82* NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 82 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) GCTGGTCCTCGATTAGCTAAC 0.493000 68 114 0 0 1 0 0 SCEL 8796 broad.mit.edu 37 13 78176801 78176801 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr13:78176801C>T ENST00000535157.1 + 16 1094 c.924C>T c.(922-924)ctC>ctT p.L308L SCEL_ENST00000469982.1_Intron|SCEL-AS1_ENST00000456280.2_RNA|SCEL-AS1_ENST00000457528.2_RNA|SCEL_ENST00000377246.3_Silent_p.L310L|SCEL_ENST00000349847.3_Silent_p.L330L NM_001160706.1 NP_001154178.1 O95171 SCEL_HUMAN sciellin 330 16 X approximate tandem repeats. embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) GACAAAATCTCGAATCTGTTG 0.338000 45 87 0 0 1 0 0 DIAPH3 81624 broad.mit.edu 37 13 60557996 60557996 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr13:60557996C>T ENST00000400324.4 - 13 1607 c.1387G>A c.(1387-1389)Gag>Aag p.E463K DIAPH3_ENST00000400330.1_Missense_Mutation_p.E463K|DIAPH3_ENST00000377908.2_Missense_Mutation_p.E452K|DIAPH3_ENST00000267215.4_Missense_Mutation_p.E463K|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.E393K|DIAPH3_ENST00000400320.1_Missense_Mutation_p.E417K NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 463 GBD/FH3. 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) GATACACACTCATCAATTAAT 0.313000 58 92 0 0 1 0 0 TRAV12-2 28673 broad.mit.edu 37 14 22356055 22356055 + RNA SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:22356055G>A ENST00000390437.2 + 0 19 TTCTTTTTATGATTTTTAAAG 0.383000 6 7 0 0 1 0 0 CAMK1G 57172 broad.mit.edu 37 1 209778984 209778984 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:209778984C>T ENST00000009105.1 + 5 645 c.400C>T c.(400-402)Cta>Tta p.L134L CAMK1G_ENST00000361322.2_Silent_p.L134L Q96NX5 KCC1G_HUMAN calcium/calmodulin-dependent protein kinase IG 134 Protein kinase. Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.0475) AGTGAAATACCTACATGAGAA 0.532000 37 135 0 0 1 0 0 UTS2 10911 broad.mit.edu 37 1 7912982 7912982 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:7912982C>T ENST00000377516.2 - 2 402 c.82G>A c.(82-84)Gaa>Aaa p.E28K UTS2_ENST00000361696.5_Missense_Mutation_p.E28K|UTS2_ENST00000054668.5_Splice_Site_p.E43_splice O95399 UTS2_HUMAN urotensin 2 28 muscle contraction|regulation of blood pressure|synaptic transmission extracellular space hormone activity kidney(1)|lung(4)|urinary_tract(1) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642) AAGGATATTTCCCTGGAGTCA 0.378000 122 91 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152287830 152287830 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:152287830C>T ENST00000368799.1 - 2 138 c.103G>A c.(103-105)Gaa>Aaa p.E35K FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 35 EF-hand 1. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCAGAAGTTCCTTCAGCTCT 0.348000 Ichthyosis 62 195 0 0 1 0 0 SKAP2 8935 broad.mit.edu 37 7 26765109 26765109 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:26765109G>A ENST00000345317.2 - 9 1047 c.734C>T c.(733-735)cCa>cTa p.P245L SKAP2_ENST00000489977.1_5'UTR|SKAP2_ENST00000539623.1_Missense_Mutation_p.P73L NM_003930.3 NP_003921.2 O75563 SKAP2_HUMAN src kinase associated phosphoprotein 2 245 B cell activation|cell junction assembly|protein complex assembly|signal transduction cytosol|plasma membrane SH3/SH2 adaptor activity haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3) 17 ATTGCTTATTGGTAGAGGATG 0.318000 26 59 0 0 1 0 0 PVRL1 5818 broad.mit.edu 37 11 119548540 119548540 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:119548540G>A ENST00000264025.3 - 3 988 c.458C>T c.(457-459)aCc>aTc p.T153I PVRL1_ENST00000340882.2_Missense_Mutation_p.T153I|PVRL1_ENST00000341398.2_Missense_Mutation_p.T153I|PVRL1_ENST00000524510.1_5'UTR NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 153 Ig-like C2-type 1. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) CACTGCCTGGGTACCCTCTAT 0.582000 27 36 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17697254 17697254 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:17697254C>T ENST00000353383.1 + 3 1461 c.992C>T c.(991-993)cCa>cTa p.P331L RAI1_ENST00000261641.6_Missense_Mutation_p.P331L NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 331 Gln-rich. cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) GTCCGGACCCCAGAGCAGTAC 0.642000 82 149 0 0 1 0 0 STRA6 64220 broad.mit.edu 37 15 74473149 74473149 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr15:74473149C>T ENST00000323940.5 - 18 2059 c.1814G>A c.(1813-1815)aGc>aAc p.S605N STRA6_ENST00000563965.1_Missense_Mutation_p.S644N|STRA6_ENST00000423167.2_Missense_Mutation_p.S596N|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000449139.2_Missense_Mutation_p.S605N|STRA6_ENST00000535552.1_Missense_Mutation_p.S642N|STRA6_ENST00000574278.1_Missense_Mutation_p.S620N|STRA6_ENST00000416286.3_Missense_Mutation_p.S597N|STRA6_ENST00000395105.4_Missense_Mutation_p.S605N 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 6 605 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 TGGTCTGAGGCTGTCCTGGGG 0.617000 42 82 0 0 1 0 0 IHH 3549 broad.mit.edu 37 2 219920312 219920312 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:219920312C>T ENST00000295731.5 - 3 852 c.853G>A c.(853-855)Gag>Aag p.E285K NM_002181.3 NP_002172.2 Q14623 IHH_HUMAN indian hedgehog 285 cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 14 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTGCCGGCTCCGTGTGATTG 0.677000 16 29 0 0 1 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64748639 64748639 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:64748639C>T ENST00000536360.1 - 5 1551 c.738G>A c.(736-738)gtG>gtA p.V246V Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 6 246 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) GTTCAATGCTCACTGATCTCT 0.433000 49 86 0 0 1 0 0 ENGASE 64772 broad.mit.edu 37 17 77082115 77082115 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:77082115C>T ENST00000579016.1 + 14 1916 c.1916C>T c.(1915-1917)cCc>cTc p.P639L NM_001042573.2 NP_001036038.1 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 639 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 CGGGAGGGGCCCCCTGCTCTG 0.657000 35 59 0 0 1 0 0 DENND5B 160518 broad.mit.edu 37 12 31540608 31540608 + Nonsense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:31540608G>A ENST00000389082.5 - 21 4018 c.3754C>T c.(3754-3756)Cga>Tga p.R1252* DENND5B_ENST00000306833.6_Nonsense_Mutation_p.R1287*|DENND5B_ENST00000536562.1_Nonsense_Mutation_p.R1287* NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 1252 RUN 2. integral to membrane p.R1252*(1) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 TGCAGAATTCGGATAAGGGAG 0.488000 24 39 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9064338 9064338 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:9064338G>A ENST00000397910.4 - 3 23311 c.23108C>T c.(23107-23109)tCc>tTc p.S7703F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7705 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 GAATGTGGTGGAAACAGGATG 0.562000 43 64 0 0 1 0 0 C1R 715 broad.mit.edu 37 12 7188198 7188198 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:7188198C>T ENST00000542285.1 - 11 1749 c.1600G>A c.(1600-1602)Gac>Aac p.D534N P00736 C1R_HUMAN complement component 1, r subcomponent 586 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1) 16 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AAGCCCAGGTCGTAGAAGGTA 0.562000 28 39 0 0 1 0 0 NEGR1 257194 broad.mit.edu 37 1 72163754 72163754 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:72163754C>T ENST00000357731.4 - 4 843 c.604G>A c.(604-606)Gaa>Aaa p.E202K NEGR1_ENST00000306821.3_Missense_Mutation_p.E74K|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Intron NM_173808.2 NP_776169.2 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 202 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) GCACTGCATTCATATTCCCCA 0.353000 30 55 0 0 1 0 0 KCTD13 253980 broad.mit.edu 37 16 29918198 29918198 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr16:29918198C>T ENST00000568000.1 - 6 1986 c.985G>A c.(985-987)Gac>Aac p.D329N NM_178863.3 NP_849194.1 Q8WZ19 BACD1_HUMAN potassium channel tetramerization domain containing 13 329 cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 7 AGAGGTCAGTCCTTGAAGACA 0.602000 29 45 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227966606 227966606 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:227966606C>T ENST00000396625.3 - 16 1157 c.950G>A c.(949-951)gGa>gAa p.G317E COL4A4_ENST00000329662.7_Missense_Mutation_p.G317E NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 317 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) ACCTGGAGATCCATAGGAACC 0.313000 8 8 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122130171 122130171 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:122130171G>A ENST00000334010.7 - 11 2237 c.1816C>T c.(1816-1818)Cct>Tct p.P606S CADPS2_ENST00000449022.2_Missense_Mutation_p.P606S|CADPS2_ENST00000313070.7_Missense_Mutation_p.P606S|CADPS2_ENST00000412584.2_Missense_Mutation_p.P606S NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 606 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 CCTCCTTTAGGATTCAGTTTC 0.348000 38 54 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26211990 26211990 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chrX:26211990C>T ENST00000379034.1 + 2 176 c.27C>T c.(25-27)ctC>ctT p.L9L NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 9 breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 AGAGTAAGCTCCGTACCTGTG 0.582000 38 15 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23524492 23524492 + Nonsense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:23524492C>T ENST00000296682.3 + 10 1182 c.1000C>T c.(1000-1002)Cag>Tag p.Q334* NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 334 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 GGTGGCCTTCCAGTACCACAG 0.537000 HNSCC(3;0.000094) 26 62 0 0 1 0 0 LOC100129935 100129935 broad.mit.edu 37 19 40132963 40132963 + RNA SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:40132963G>A ENST00000594263.1 + 0 1753 NR_026870.1 GTGACCATAGGATCCCCAGAG 0.463000 3 5 0 0 1 0 0 MARCH2 51257 broad.mit.edu 37 19 8491631 8491631 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:8491631C>T ENST00000602117.1 + 3 770 c.315C>T c.(313-315)taC>taT p.Y105Y MARCH2_ENST00000601283.1_Intron|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000215555.2_Silent_p.Y105Y|MARCH2_ENST00000381035.4_Silent_p.Y105Y|MARCH2_ENST00000393944.1_Silent_p.Y105Y Q9P0N8 MARH2_HUMAN membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase 105 endocytosis cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1) 10 ACACCAGCTACTGCGAGCTGT 0.607000 26 55 0 0 1 0 0 CCDC129 223075 broad.mit.edu 37 7 31594485 31594485 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:31594485G>A ENST00000319386.3 + 4 1219 c.226G>A c.(226-228)Gaa>Aaa p.E76K CCDC129_ENST00000407970.3_Missense_Mutation_p.E76K|CCDC129_ENST00000451887.2_Missense_Mutation_p.E102K|CCDC129_ENST00000482748.1_3'UTR|CCDC129_ENST00000409210.1_5'UTR Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 76 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 CTCTGCAAATGAAAACTTTCA 0.323000 5 3 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29820946 29820946 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:29820946C>T ENST00000375398.2 - 11 2443 c.1994G>A c.(1993-1995)cGa>cAa p.R665Q SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.R665Q O95425 SVIL_HUMAN supervillin 665 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) CGATTCCTTTCGTTCTGCTGA 0.478000 79 124 0 0 1 0 0 CYP4F2 8529 broad.mit.edu 37 19 16003236 16003236 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:16003236G>A ENST00000221700.5 - 5 503 c.408C>T c.(406-408)ctC>ctT p.L136L CYP4F2_ENST00000592328.1_Silent_p.L136L|CYP4F2_ENST00000011989.7_5'UTR NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 136 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CACTCAGCAGGAGCCCATCCC 0.577000 52 78 0 0 1 0 0 BRINP1 1620 broad.mit.edu 37 9 121929509 121929509 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:121929509C>T ENST00000265922.3 - 8 2600 c.2139G>A c.(2137-2139)ggG>ggA p.G713G DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 713 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 GCTGGGGTTTCCCCGGGGCCA 0.552000 57 102 0 0 1 0 0 NPTXR 23467 broad.mit.edu 37 22 39222597 39222597 + Missense_Mutation SNP T T G TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr22:39222597T>G ENST00000333039.2 - 3 1129 c.1006A>C c.(1006-1008)Acc>Ccc p.T336P NM_014293.3 NP_055108.2 O95502 NPTXR_HUMAN neuronal pentraxin receptor 336 Pentaxin. integral to membrane metal ion binding central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Melanoma(58;0.04) GAGAAGGGGGTGCCCTGGCCG 0.642000 47 90 0 0 1 0 0 TERF2IP 54386 broad.mit.edu 37 16 75682397 75682397 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr16:75682397C>T ENST00000300086.4 + 1 714 c.617C>T c.(616-618)tCc>tTc p.S206F NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein 206 negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 AGCCCCTCCTCCCAGAAGCTC 0.701000 5 9 0 0 1 0 0 FRMD8 83786 broad.mit.edu 37 11 65164292 65164292 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:65164292C>T ENST00000317568.5 + 7 767 c.604C>T c.(604-606)Cct>Tct p.P202S FRMD8_ENST00000355991.5_Missense_Mutation_p.P146S|FRMD8_ENST00000416776.2_Missense_Mutation_p.P168S NM_031904.3 NP_114110.1 Q9BZ67 FRMD8_HUMAN FERM domain containing 8 202 FERM. cytoskeleton binding p.P202S(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1) 17 CTCCTTCCTCCCTGCCCACCT 0.697000 3 9 0 0 1 0 0 ZNF324B 388569 broad.mit.edu 37 19 58967343 58967343 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:58967343C>T ENST00000391696.1 + 3 1934 c.1002C>T c.(1000-1002)tcC>tcT p.S334S ZNF324B_ENST00000545523.1_Silent_p.S344S|ZNF324B_ENST00000336614.4_Silent_p.S344S Q6AW86 Z324B_HUMAN zinc finger protein 324B 344 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) TCCGCTGCTCCGAGTGCGGCA 0.687000 25 16 0 0 1 0 0 ZNF431 170959 broad.mit.edu 37 19 21366788 21366788 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:21366788C>T ENST00000311048.7 + 5 1826 c.1682C>T c.(1681-1683)tCa>tTa p.S561L ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron NM_133473.2 NP_597730.2 Q8TF32 ZN431_HUMAN zinc finger protein 431 561 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 CAAAATAATTCATACTGGAGA 0.368000 18 35 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167625870 167625870 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:167625870C>T ENST00000519204.1 + 15 2668 c.2550C>T c.(2548-2550)atC>atT p.I850I TENM2_ENST00000403607.2_Silent_p.I795I|TENM2_ENST00000518659.1_Silent_p.I971I|TENM2_ENST00000520394.1_Silent_p.I739I|TENM2_ENST00000545108.1_Silent_p.I971I teneurin transmembrane protein 2 TCGACCTGATCGCAAATGGAG 0.562000 54 99 0 0 1 0 0 LALBA 3906 broad.mit.edu 37 12 48961786 48961786 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:48961786G>A ENST00000301046.2 - 4 408 c.383C>T c.(382-384)gCc>gTc p.A128V LALBA_ENST00000549817.1_3'UTR NM_002289.2 NP_002280.1 P00709 LALBA_HUMAN lactalbumin, alpha- 128 cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction extracellular space calcium ion binding|lactose synthase activity large_intestine(1)|stomach(2) 3 AGTGCAGAGGGCTTTATGGGC 0.522000 9 10 0 0 1 0 0 ABCG1 9619 broad.mit.edu 37 21 43710238 43710238 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr21:43710238G>A ENST00000398437.1 + 12 1925 c.1777G>A c.(1777-1779)Gaa>Aaa p.E593K ABCG1_ENST00000361802.2_Missense_Mutation_p.E447K|ABCG1_ENST00000398457.2_Missense_Mutation_p.E437K|ABCG1_ENST00000343687.3_Missense_Mutation_p.E446K|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000340588.4_Missense_Mutation_p.E555K|ABCG1_ENST00000398449.3_Missense_Mutation_p.E435K|ABCG1_ENST00000347800.2_Missense_Mutation_p.E432K P45844 ABCG1_HUMAN ATP-binding cassette, sub-family G (WHITE), member 1 447 ABC transmembrane type-2. amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) GATCGGGAACGAAGCCAAGAA 0.562000 60 125 0 0 1 0 0 GALNS 2588 broad.mit.edu 37 16 88909220 88909220 + Silent SNP G G A rs140588640 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr16:88909220G>A ENST00000268695.5 - 2 226 c.138C>T c.(136-138)ctC>ctT p.L46L GALNS_ENST00000542788.1_Intron|GALNS_ENST00000565364.1_5'UTR NM_000512.4 NP_000503.1 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfate sulfatase 46 lysosome metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8) 22 BRCA - Breast invasive adenocarcinoma(80;0.0496) Hyaluronidase(DB00070) CATACACCCCGAGGTCACCCC 0.602000 17 18 0 0 1 0 0 GRM5 2915 broad.mit.edu 37 11 88780634 88780634 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:88780634G>A ENST00000418177.2 - 2 774 c.407C>T c.(406-408)tCc>tTc p.S136F GRM5_ENST00000455756.2_Missense_Mutation_p.S136F|GRM5_ENST00000393294.3_Missense_Mutation_p.S136F|GRM5_ENST00000393297.1_Missense_Mutation_p.S136F|GRM5_ENST00000305432.5_Missense_Mutation_p.S136F|GRM5_ENST00000305447.4_Missense_Mutation_p.S136F P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 136 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.S136Y(2) NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GGAGCGGAAGGAAGAGGAGGA 0.512000 68 25 0 0 1 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209180027 209180027 + Missense_Mutation SNP A A C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:209180027A>C ENST00000264380.4 + 15 2095 c.1937A>C c.(1936-1938)cAg>cCg p.Q646P NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 646 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 CAGGTTGTTCAGACAGTCCGA 0.453000 28 45 0 0 1 0 0 MPHOSPH6 10200 broad.mit.edu 37 16 82185039 82185039 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr16:82185039G>A ENST00000258169.4 - 3 295 c.245C>T c.(244-246)cCt>cTt p.P82L MPHOSPH6_ENST00000563504.1_Missense_Mutation_p.P53L NM_005792.2 NP_005783.2 Q99547 MPH6_HUMAN M-phase phosphoprotein 6 82 M phase of mitotic cell cycle|maturation of 5.8S rRNA cytoplasm|nucleolus protein binding|RNA binding endometrium(1)|large_intestine(1)|lung(3) 5 CTCAACCTCAGGATTAAATCC 0.308000 31 55 0 0 1 0 0 TNS3 64759 broad.mit.edu 37 7 47408146 47408146 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:47408146G>A ENST00000398879.1 - 17 2463 c.2097C>T c.(2095-2097)atC>atT p.I699I TNS3_ENST00000355730.3_Silent_p.I459I|TNS3_ENST00000311160.9_Silent_p.I699I Q68CZ2 TENS3_HUMAN tensin 3 699 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 TGAGCTGCTCGATGGACTGGT 0.627000 123 202 0 0 1 0 0 AAK1 22848 broad.mit.edu 37 2 69748027 69748027 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:69748027G>A ENST00000409085.4 - 11 1525 c.1149C>T c.(1147-1149)ccC>ccT p.P383P AAK1_ENST00000406297.3_Silent_p.P383P|AAK1_ENST00000409068.1_Silent_p.P383P NM_014911.3 NP_055726.3 Q2M2I8 AAK1_HUMAN AP2 associated kinase 1 383 coated pit|mitochondrion|plasma membrane ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1) 17 CTGGCTGGATGGGAAGGATTC 0.547000 69 107 0 0 1 0 0 FOXJ2 55810 broad.mit.edu 37 12 8192441 8192441 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:8192441C>T ENST00000162391.3 + 2 1158 c.13C>T c.(13-15)Cta>Tta p.L5L FOXJ2_ENST00000428177.2_Silent_p.L5L NM_018416.2 NP_060886.1 Q9P0K8 FOXJ2_HUMAN forkhead box J2 5 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) GGCTTCTGACCTAGAGAGTAG 0.532000 60 108 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38739391 38739391 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:38739391G>A ENST00000449082.2 - 27 5319 c.5320C>T c.(5320-5322)Ccc>Tcc p.P1774S NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1774 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) ATTCTCAGGGGACCAGAGAGA 0.468000 43 75 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42848889 42848889 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:42848889C>T ENST00000334370.4 + 12 2636 c.2001C>T c.(1999-2001)ttC>ttT p.F667F MEGF8_ENST00000251268.6_Silent_p.F667F NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 717 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) CGCCTGTCTTCGTCACGTCCC 0.672000 33 68 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46211644 46211644 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:46211644C>T ENST00000334344.6 + 5 782 c.610C>T c.(610-612)Ctt>Ttt p.L204F ARID2_ENST00000422737.1_Missense_Mutation_p.L55F NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 204 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CACTTTACTACTTGCTAATGC 0.328000 """N, S, F""" hepatocellular carcinoma 26 38 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196642628 196642628 + Missense_Mutation SNP T T A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:196642628T>A ENST00000312428.6 - 59 11060 c.10960A>T c.(10960-10962)Acg>Tcg p.T3654S DNAH7_ENST00000409063.1_Missense_Mutation_p.T137S NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3654 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CTGCGCAGCGTGCGCCGGTCC 0.478000 32 43 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 21971126 21971126 + Silent SNP C C T rs140182559 byFrequency TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:21971126C>T ENST00000261200.4 - 30 3728 c.3729G>A c.(3727-3729)tcG>tcA p.S1243S ABCC9_ENST00000345162.2_Silent_p.S1207S|ABCC9_ENST00000261201.4_Silent_p.S1243S NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1243 ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ATCCAGAATTCGAAGACCCAC 0.408000 68 153 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176993856 176993856 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:176993856C>T ENST00000367654.2 - 6 1146 c.1133G>A c.(1132-1134)cGa>cAa p.R378Q ASTN1_ENST00000361833.2_Missense_Mutation_p.R378Q|ASTN1_ENST00000367657.3_Missense_Mutation_p.R378Q|ASTN1_ENST00000424564.2_Missense_Mutation_p.R378Q|ASTN1_ENST00000281881.3_5'UTR O14525 ASTN1_HUMAN astrotactin 1 378 cell migration|neuron cell-cell adhesion integral to membrane p.R378Q(1) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CACAGGACTTCGGGGAGAACC 0.493000 22 34 0 0 1 0 0 MBD5 55777 broad.mit.edu 37 2 149247552 149247552 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:149247552C>T ENST00000407073.1 + 12 4649 c.3652C>T c.(3652-3654)Cat>Tat p.H1218Y MBD5_ENST00000404807.1_Missense_Mutation_p.H1451Y NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1218 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) ATTTTTAGATCATCCAGGCCA 0.498000 44 84 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124350590 124350590 + Nonsense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:124350590G>A ENST00000409039.3 + 40 6808 c.6783G>A c.(6781-6783)tgG>tgA p.W2261* NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2261 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) GACCATACTGGAAAAAATGGG 0.348000 20 42 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 96963125 96963125 + Nonsense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:96963125C>T ENST00000389672.5 + 5 1638 c.1600C>T c.(1600-1602)Caa>Taa p.Q534* EPHA6_ENST00000470610.2_Nonsense_Mutation_p.Q534* NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 439 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 GACCACGGATCAAGATGGTAA 0.403000 44 75 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37454063 37454063 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:37454063G>A ENST00000374660.1 + 18 1975 c.1876G>A c.(1876-1878)Gaa>Aaa p.E626K ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E626K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E626K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 682 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GGACTATGAAGAAAATTCTTG 0.289000 33 58 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55321881 55321881 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:55321881C>T ENST00000314644.2 + 1 99 c.99C>T c.(97-99)ttC>ttT p.F33F NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 0 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 AGCAAATTTTCCTTTGTCCTA 0.368000 HNSCC(20;0.049) 64 126 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56434752 56434752 + Missense_Mutation SNP A A T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:56434752A>T ENST00000370754.5 - 54 13686 c.13687T>A c.(13687-13689)Tca>Aca p.S4563T DST_ENST00000370769.4_Missense_Mutation_p.S4385T|DST_ENST00000421834.2_Missense_Mutation_p.S2297T|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Missense_Mutation_p.S4383T|DST_ENST00000244364.6_Missense_Mutation_p.S1971T|DST_ENST00000370788.2_Missense_Mutation_p.S2297T|DST_ENST00000446842.2_Missense_Mutation_p.S4059T Q03001 DYST_HUMAN dystonin 4383 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) GACTTCAATGATTTAACAAGA 0.333000 29 20 0 0 1 0 0 VARS 7407 broad.mit.edu 37 6 31747282 31747282 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:31747282G>A ENST00000375663.3 - 28 3760 c.3320C>T c.(3319-3321)gCc>gTc p.A1107V NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 1107 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) CAGCTCAAGGGCGGCTTCTGC 0.687000 22 10 0 0 1 0 0 ALS2CL 259173 broad.mit.edu 37 3 46717864 46717864 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:46717864C>T ENST00000318962.4 - 19 2140 c.2057G>A c.(2056-2058)gGa>gAa p.G686E ALS2CL_ENST00000415953.1_Missense_Mutation_p.G686E|ALS2CL_ENST00000383742.3_Missense_Mutation_p.G33E NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like 686 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity p.G686E(1) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) GAGCAGCTTTCCCAGGGGGTG 0.617000 41 89 0 0 1 0 0 TRBV28 28559 broad.mit.edu 37 7 142428720 142428720 + RNA SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:142428720C>T ENST00000390400.2 + 0 100 ACCCAGAGCTCGAGATATCTA 0.448000 16 23 0 0 1 0 0 PPP6R2 9701 broad.mit.edu 37 22 50832548 50832548 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr22:50832548G>A ENST00000359139.3 + 3 605 c.211G>A c.(211-213)Gag>Aag p.E71K PPP6R2_ENST00000216061.5_Missense_Mutation_p.E71K|PPP6R2_ENST00000395741.3_Missense_Mutation_p.E71K|PPP6R2_ENST00000395744.3_Missense_Mutation_p.E71K NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 71 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 GGACATGGAGGAGAAGGTCCG 0.592000 69 81 0 0 1 0 0 MAMDC2 256691 broad.mit.edu 37 9 72746489 72746489 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:72746489G>A ENST00000377182.4 + 7 1572 c.955G>A c.(955-957)Gat>Aat p.D319N MAMDC2-AS1_ENST00000591368.1_RNA NM_153267.4 NP_694999.3 Q7Z304 MAMC2_HUMAN MAM domain containing 2 319 MAM 2. endoplasmic reticulum|membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 14 TGCCCTGGATGATATTTCATT 0.413000 73 107 0 0 1 0 0 DPYS 1807 broad.mit.edu 37 8 105459626 105459626 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:105459626C>T ENST00000351513.2 - 3 661 c.529G>A c.(529-531)Gaa>Aaa p.E177K NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 177 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) GAGAAGGCTTCGTACAGCTCC 0.428000 48 82 0 0 1 0 0 AGMO 392636 broad.mit.edu 37 7 15584536 15584536 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:15584536C>T ENST00000342526.3 - 3 439 c.270G>A c.(268-270)agG>agA p.R90R NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 90 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding p.R90S(1) breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 GTTCAATGCTCCTGAAAAATA 0.313000 44 93 0 0 1 0 0 FCF1 51077 broad.mit.edu 37 14 75200844 75200844 + Silent SNP A A G TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:75200844A>G ENST00000341162.4 + 7 573 c.519A>G c.(517-519)ggA>ggG p.G173G FCF1_ENST00000553615.1_Silent_p.G158G|FCF1_ENST00000534938.2_Silent_p.G161G NM_015962.4 NP_057046.1 Q9Y324 FCF1_HUMAN FCF1 rRNA-processing protein 173 rRNA processing nucleolus breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(234;0.0037) AGATTCCTGGAGTTCCTATCA 0.383000 17 50 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55826536 55826536 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:55826536G>A ENST00000373965.2 - 19 2616 c.2222C>T c.(2221-2223)gCc>gTc p.A741V PCDH15_ENST00000373957.3_Missense_Mutation_p.A712V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.A734V|PCDH15_ENST00000437009.1_Missense_Mutation_p.A663V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.A739V|PCDH15_ENST00000395438.1_Missense_Mutation_p.A734V|PCDH15_ENST00000320301.6_Missense_Mutation_p.A734V|PCDH15_ENST00000373955.1_Missense_Mutation_p.A734V|PCDH15_ENST00000395432.2_Missense_Mutation_p.A697V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.A734V|PCDH15_ENST00000409834.1_Missense_Mutation_p.A345V|PCDH15_ENST00000395445.1_Missense_Mutation_p.A741V|PCDH15_ENST00000395433.1_Missense_Mutation_p.A712V NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 734 Cadherin 7. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACCCACAAAGGCATTGGCTTC 0.338000 HNSCC(58;0.16) 27 58 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92533433 92533433 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:92533433C>T ENST00000298047.6 + 9 7271 c.7254C>T c.(7252-7254)gcC>gcT p.A2418A FAT3_ENST00000525166.1_Silent_p.A2268A|FAT3_ENST00000409404.2_Silent_p.A2418A Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2418 Cadherin 22. 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) GTGTACAAGCCTCTGATGCAG 0.443000 TCGA Ovarian(4;0.039) 46 91 0 0 1 0 0 MIB1 57534 broad.mit.edu 37 18 19429316 19429316 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr18:19429316C>T ENST00000261537.6 + 17 2817 c.2553C>T c.(2551-2553)ctC>ctT p.L851L MIB1_ENST00000578646.1_3'UTR NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 851 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) AGAAATGCCTCATCTGTAAAG 0.338000 47 74 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101724397 101724397 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:101724397C>T ENST00000506729.1 - 12 2183 c.2012G>A c.(2011-2013)gGa>gAa p.G671E SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G671E|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G418E|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G609E|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G418E Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 671 integral to membrane|plasma membrane transporter activity p.G671A(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) CTTACATATTCCTACCAATAA 0.269000 12 32 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9071478 9071478 + Nonsense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:9071478C>T ENST00000397910.4 - 3 16171 c.15968G>A c.(15967-15969)tGg>tAg p.W5323* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5325 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 AGTTGTCATCCATGACACATT 0.532000 38 51 0 0 1 0 0 NEDD1 121441 broad.mit.edu 37 12 97331067 97331067 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:97331067C>T ENST00000266742.4 + 9 1352 c.1013C>T c.(1012-1014)tCc>tTc p.S338F NEDD1_ENST00000457368.2_Missense_Mutation_p.S249F|NEDD1_ENST00000557644.1_Missense_Mutation_p.S345F|NEDD1_ENST00000411739.2_Missense_Mutation_p.S249F|NEDD1_ENST00000429527.2_Missense_Mutation_p.S338F NM_152905.3 NP_690869.1 Q8NHV4 NEDD1_HUMAN neural precursor cell expressed, developmentally down-regulated 1 338 cell division|G2/M transition of mitotic cell cycle|mitosis cytosol breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8) 22 GTTCAGAATTCCGGAATTGTC 0.423000 57 88 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77353396 77353396 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:77353396C>T ENST00000451710.3 - 35 5952 c.5715G>A c.(5713-5715)gaG>gaA p.E1905E TRPM6_ENST00000376864.4_Silent_p.E1905E|TRPM6_ENST00000449912.2_Silent_p.E1896E|TRPM6_ENST00000376871.3_Silent_p.E738E|TRPM6_ENST00000376872.3_Silent_p.E856E|TRPM6_ENST00000361255.3_Silent_p.E1896E|TRPM6_ENST00000360774.1_Silent_p.E1901E Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1901 Alpha-type protein kinase. response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 ACATCAGCTCCTCCAGGGTGT 0.468000 42 68 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73961368 73961368 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chrX:73961368G>A ENST00000373468.1 - 3 3675 c.3024C>T c.(3022-3024)tcC>tcT p.S1008S KIAA2022_ENST00000055682.5_Silent_p.S1008S Q5QGS0 K2022_HUMAN KIAA2022 1008 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TCAAGCTTAAGGAGCAATAAT 0.478000 27 12 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39051792 39051792 + Nonsense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:39051792C>T ENST00000355481.4 + 89 12438 c.12307C>T c.(12307-12309)Cag>Tag p.Q4103* RYR1_ENST00000360985.3_Nonsense_Mutation_p.Q4103*|RYR1_ENST00000359596.3_Nonsense_Mutation_p.Q4108* NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 4108 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCCAGAAATCCAGTTCCTGCT 0.567000 38 62 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65103431 65103431 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:65103431G>A ENST00000358691.5 - 31 5261 c.5095C>T c.(5095-5097)Ccc>Tcc p.P1699S HELZ_ENST00000580168.1_Missense_Mutation_p.P1700S NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) AGGCCATAGGGAAAACCTGGC 0.483000 56 118 0 0 1 0 0 SLC39A13 91252 broad.mit.edu 37 11 47431928 47431928 + Missense_Mutation SNP A A C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:47431928A>C ENST00000524928.1 + 1 293 c.283A>C c.(283-285)Acc>Ccc p.T95P SLC39A13_ENST00000531974.1_Missense_Mutation_p.T95P|SLC39A13_ENST00000362021.4_Missense_Mutation_p.T95P|SLC39A13_ENST00000354884.4_Missense_Mutation_p.T95P|SLC39A13_ENST00000533076.1_Missense_Mutation_p.T95P Q96H72 S39AD_HUMAN solute carrier family 39 (zinc transporter), member 13 95 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|kidney(1)|lung(1)|prostate(1) 4 Lung(87;0.0936) AGAGATGGGGACCATGCTGCG 0.632000 24 60 0 0 1 0 0 MANEA 79694 broad.mit.edu 37 6 96034328 96034328 + Missense_Mutation SNP C C T rs145603966 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:96034328C>T ENST00000358812.4 + 2 147 c.13C>T c.(13-15)Cgg>Tgg p.R5W MANEA_ENST00000369293.1_Missense_Mutation_p.R5W NM_024641.3 NP_078917.2 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 5 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) GGCAAAGTTTCGGAGAAGGAC 0.313000 51 25 0 0 1 0 0 CD101 9398 broad.mit.edu 37 1 117576493 117576493 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:117576493C>T ENST00000256652.4 + 9 2894 c.2836C>T c.(2836-2838)Cct>Tct p.P946S RP11-27K13.3_ENST00000445523.1_RNA|CD101_ENST00000369470.1_Missense_Mutation_p.P946S|CD101_ENST00000467588.1_3'UTR NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4 NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2 Q93033 IGSF2_HUMAN CD101 molecule 946 cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GCCCACGCTTCCTTCCAGGAT 0.463000 54 119 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14769802 14769802 + Silent SNP T T A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:14769802T>A ENST00000380881.4 - 28 5942 c.5127A>T c.(5125-5127)atA>atT p.I1709I FREM1_ENST00000422223.2_Silent_p.I1708I|FREM1_ENST00000380894.1_Silent_p.I244I|FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000380880.3_Silent_p.I1708I Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1708 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) AAGATGGGTTTATGATGTAAA 0.343000 18 6 0 0 1 0 0 DUXA 503835 broad.mit.edu 37 19 57666650 57666650 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:57666650G>A ENST00000554048.2 - 5 528 c.529C>T c.(529-531)Cct>Tct p.P177S NM_001012729.1 NP_001012747.1 A6NLW8 DUXA_HUMAN double homeobox A 177 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) AGTCCCTCAGGAATCTTGCCC 0.488000 35 50 0 0 1 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307644 39307644 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:39307644G>A ENST00000541347.1 - 2 596 c.357C>T c.(355-357)ttC>ttT p.F119F CX3CR1_ENST00000542107.1_Silent_p.F119F|CX3CR1_ENST00000358309.3_Silent_p.F151F|CX3CR1_ENST00000399220.2_Silent_p.F119F NM_001171171.1 NP_001164642.1 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 119 cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) TGACGGTGATGAAGAATATGC 0.502000 55 94 0 0 1 0 0 UGT2A3 79799 broad.mit.edu 37 4 69796346 69796346 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:69796346C>T ENST00000251566.4 - 5 1252 c.1222G>A c.(1222-1224)Gga>Aga p.G408R UGT2A3_ENST00000420231.2_Missense_Mutation_p.G119R NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 408 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 ACAGCTGCTCCTTTGGCCTTC 0.418000 67 118 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20566695 20566695 + Silent SNP G G A rs147574915 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr16:20566695G>A ENST00000329697.6 - 4 660 c.492C>T c.(490-492)atC>atT p.I164I ACSM2B_ENST00000567001.1_Silent_p.I164I|ACSM2B_ENST00000565322.1_Silent_p.I85I|ACSM2B_ENST00000414188.2_Silent_p.I164I|ACSM2B_ENST00000565232.1_Silent_p.I164I NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 164 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CCACTTCTTGGATGACTTCAT 0.453000 102 135 0 0 1 0 0 CPXM1 56265 broad.mit.edu 37 20 2775010 2775010 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr20:2775010G>A ENST00000380605.2 - 14 2095 c.2031C>T c.(2029-2031)ggC>ggT p.G677G NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 677 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 CTGAATGGTAGCCCTCGGCAC 0.602000 41 49 0 0 1 0 0 LINC01410 103352539 broad.mit.edu 37 9 66458028 66458028 + RNA SNP G G T rs75630327 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:66458028G>T ENST00000424345.1 + 0 67 GGATCTTCAGGAGGAGGTCCT 0.701000 5 31 0.00307968 0.00308847 1 1 0 AZGP1 563 broad.mit.edu 37 7 99564732 99564732 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:99564732G>A ENST00000292401.4 - 4 927 c.791C>T c.(790-792)tCc>tTc p.S264F AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR NM_001185.3 NP_001176.1 P25311 ZA2G_HUMAN alpha-2-glycoprotein 1, zinc-binding 264 Ig-like C1-type. antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation extracellular region|MHC class I protein complex fatty acid binding|protein transmembrane transporter activity|ribonuclease activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1) 16 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) CACCACCCAGGACTGGTAAGT 0.637000 23 68 0 0 1 0 0 ITIH1 3697 broad.mit.edu 37 3 52812968 52812968 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:52812968G>A ENST00000273283.2 + 4 340 c.316G>A c.(316-318)Gga>Aga p.G106R ITIH1_ENST00000540715.1_5'UTR|ITIH1_ENST00000542827.1_Missense_Mutation_p.G106R NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 106 VIT. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) TACAGCAGATGGAAACGCATT 0.537000 24 48 0 0 1 0 0 CADM3 57863 broad.mit.edu 37 1 159163739 159163739 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:159163739G>A ENST00000368125.4 + 5 757 c.600G>A c.(598-600)cgG>cgA p.R200R CADM3_ENST00000368124.4_Silent_p.R234R NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 200 Ig-like C2-type 1. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) AGGTTACCCGGGAGGATGATG 0.498000 29 66 0 0 1 0 0 MAP3K2 10746 broad.mit.edu 37 2 128083346 128083346 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:128083346G>A ENST00000409947.1 - 9 917 c.635C>T c.(634-636)tCt>tTt p.S212F MAP3K2_ENST00000344908.5_Missense_Mutation_p.S212F Q9Y2U5 M3K2_HUMAN mitogen-activated protein kinase kinase kinase 2 212 activation of JUN kinase activity|cellular response to mechanical stimulus nucleus ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0706) TCCTGAGCCAGAATTTTCAGG 0.353000 41 53 0 0 1 0 0 VAMP7 6845 broad.mit.edu 37 X 155127884 155127884 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chrX:155127884G>A ENST00000286448.6 + 4 478 c.313G>A c.(313-315)Gag>Aag p.E105K VAMP7_ENST00000460621.1_Missense_Mutation_p.E64K|VAMP7_ENST00000262640.6_Missense_Mutation_p.E105K|VAMP7_ENST00000479687.1_3'UTR NM_001145149.2|NM_005638.5 NP_001138621.1|NP_005629.1 P51809 VAMP7_HUMAN vesicle-associated membrane protein 7 105 Longin. calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane protein binding large_intestine(1)|lung(8) 9 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CATGAATAGCGAGTTCTCAAG 0.393000 73 116 0 0 1 0 0 ADIPOQ 9370 broad.mit.edu 37 3 186571052 186571052 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:186571052G>A ENST00000412955.2 + 2 346 c.205G>A c.(205-207)Gga>Aga p.G69R ADIPOQ_ENST00000444204.2_Missense_Mutation_p.G69R|ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000320741.2_Missense_Mutation_p.G69R Q15848 ADIPO_HUMAN adiponectin, C1Q and collagen domain containing 69 Collagen-like. brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor collagen|endoplasmic reticulum|extracellular space cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2) 16 all_cancers(143;1.2e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.47e-19) GBM - Glioblastoma multiforme(93;0.0776) GGGTGAGAAAGGAGATCCAGG 0.517000 10 13 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197021838 197021838 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:197021838G>A ENST00000367412.1 - 9 1524 c.1481C>T c.(1480-1482)cCa>cTa p.P494L NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 494 Sushi 8. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 TGGGGTTAATGGAGATAAGTC 0.323000 67 58 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 67 0 0 1 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105362514 105362514 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:105362514C>T ENST00000369774.4 - 15 2737 c.2461G>A c.(2461-2463)Gac>Aac p.D821N SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.D793N|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.D688N|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.D656N Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 821 cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) GTGATGAGGTCGGATGAGCTT 0.632000 69 117 0 0 1 0 0 TMEM38A 79041 broad.mit.edu 37 19 16791328 16791328 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:16791328C>T ENST00000187762.2 + 3 493 c.402C>T c.(400-402)atC>atT p.I134I NM_024074.1 NP_076979.1 Q9H6F2 TM38A_HUMAN transmembrane protein 38A 134 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1) 15 CGGTGGGCATCCATCACGCCC 0.527000 86 126 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108469041 108469041 + Silent SNP A A T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:108469041A>T ENST00000263054.6 - 7 1090 c.1083T>A c.(1081-1083)ccT>ccA p.P361P SORCS1_ENST00000344440.6_Silent_p.P361P NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 361 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) AGCCTGGAAAAGGCTGATTCC 0.403000 30 61 0 0 1 0 0 POP1 10940 broad.mit.edu 37 8 99142282 99142282 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:99142282G>A ENST00000401707.2 + 5 644 c.563G>A c.(562-564)cGg>cAg p.R188Q POP1_ENST00000349693.3_Missense_Mutation_p.R188Q NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 188 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) CACATGAACCGGACGCTAGAA 0.418000 63 71 0 0 1 0 0 IQCA1 79781 broad.mit.edu 37 2 237272514 237272514 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:237272514C>T ENST00000409907.3 - 15 2052 c.1778G>A c.(1777-1779)gGa>gAa p.G593E IQCA1_ENST00000309507.5_Missense_Mutation_p.G590E|IQCA1_ENST00000431676.2_Missense_Mutation_p.G552E Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 593 ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 GAGGTTGGCTCCCGTTTCGGT 0.507000 50 93 0 0 1 0 0 ZNF197 10168 broad.mit.edu 37 3 44683986 44683986 + Missense_Mutation SNP A A G TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:44683986A>G ENST00000396058.1 + 5 1531 c.1364A>G c.(1363-1365)aAg>aGg p.K455R ZNF197_ENST00000344387.4_Missense_Mutation_p.K455R|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron O14709 ZN197_HUMAN zinc finger protein 197 455 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) AAACCTTATAAGTGTAAGGAG 0.428000 54 77 0 0 1 0 0 SLC27A5 10998 broad.mit.edu 37 19 59010864 59010864 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:59010864G>A ENST00000263093.2 - 7 1771 c.1662C>T c.(1660-1662)acC>acT p.T554T SLC27A5_ENST00000601355.1_Silent_p.T470T NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 554 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity p.T554I(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 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;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) CGGACCGGAAGGTGTCCCCGA 0.657000 29 36 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176526069 176526069 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:176526069G>A ENST00000367662.3 + 2 1775 c.611G>A c.(610-612)aGg>aAg p.R204K PAPPA2_ENST00000367661.3_Missense_Mutation_p.R204K NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 204 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GTGTGGAAGAGGCGGGCGGAA 0.562000 137 98 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103148803 103148803 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:103148803G>A ENST00000295269.4 + 12 2510 c.2053G>A c.(2053-2055)Gat>Aat p.D685N NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 685 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 TGACAGCAGTGATCCAGGATC 0.453000 41 62 0 0 1 0 0 ZNF534 147658 broad.mit.edu 37 19 52941670 52941670 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:52941670C>T ENST00000332323.6 + 4 1057 c.996C>T c.(994-996)atC>atT p.I332I ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Silent_p.I319I|ZNF534_ENST00000301085.4_Intron NM_001143939.1 NP_001137411.1 Q76KX8 ZN534_HUMAN zinc finger protein 534 332 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 ATCTTGTAATCCATACTGGAG 0.418000 12 25 0 0 1 0 0 GLRB 2743 broad.mit.edu 37 4 158057667 158057667 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:158057667G>A ENST00000264428.4 + 5 614 c.344G>A c.(343-345)aGg>aAg p.R115K GLRB_ENST00000509282.1_Missense_Mutation_p.R115K|GLRB_ENST00000541722.1_Missense_Mutation_p.R115K|GLRB_ENST00000512619.1_Intron NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 115 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) AATGACCCCAGGCTGAAGCTC 0.378000 34 51 0 0 1 0 0 XKR7 343702 broad.mit.edu 37 20 30584363 30584363 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr20:30584363G>A ENST00000217299.3 + 3 1017 c.843G>A c.(841-843)caG>caA p.Q281Q NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 281 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CCTCCTACCAGAAGGTGCTGC 0.711000 26 19 0 0 1 0 0 FCRL2 79368 broad.mit.edu 37 1 157739827 157739827 + Nonsense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:157739827G>A ENST00000361516.3 - 4 472 c.424C>T c.(424-426)Cag>Tag p.Q142* FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Nonsense_Mutation_p.Q142* NM_030764.3 NP_110391.2 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 142 Ig-like C2-type 2. cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) AAGCAGAACTGGAGTTGAACA 0.567000 62 61 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124336154 124336154 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:124336154G>A ENST00000368909.3 + 7 629 c.523G>A c.(523-525)Gaa>Aaa p.E175K DMBT1_ENST00000368956.2_Missense_Mutation_p.E175K|DMBT1_ENST00000368955.3_Missense_Mutation_p.E175K|DMBT1_ENST00000338354.3_Missense_Mutation_p.E175K|DMBT1_ENST00000330163.4_Missense_Mutation_p.E175K|DMBT1_ENST00000344338.3_Missense_Mutation_p.E175K|DMBT1_ENST00000359586.6_Missense_Mutation_p.E175K NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 175 SRCR 1. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CTCAGGACACGAATCCTACCT 0.582000 61 126 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13769246 13769246 + Splice_Site SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:13769246C>T ENST00000265104.4 - 58 9825 c.e58-1 DNAH5_ENST00000504001.3_Splice_Site NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 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) CTTTTAAGACCTAATTCAATA 0.413000 Kartagener syndrome 88 134 0 0 1 0 0 KCNG3 170850 broad.mit.edu 37 2 42671136 42671136 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:42671136G>A ENST00000306078.1 - 2 1844 c.1249C>T c.(1249-1251)Cat>Tat p.H417Y KCNG3_ENST00000394973.4_Missense_Mutation_p.H406Y NM_133329.5|NM_172344.2 NP_579875.1|NP_758847.1 Q8TAE7 KCNG3_HUMAN potassium voltage-gated channel, subfamily G, member 3 417 endoplasmic reticulum|voltage-gated potassium channel complex protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2) 6 TTGAGCTCATGATAACACTGC 0.383000 55 79 0 0 1 0 0 DAZL 1618 broad.mit.edu 37 3 16633647 16633647 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:16633647C>T ENST00000250863.8 - 10 1091 c.804G>A c.(802-804)gtG>gtA p.V268V DAZL_ENST00000399444.2_Silent_p.V248V NM_001190811.1 NP_001177740.1 Q92904 DAZL_HUMAN deleted in azoospermia-like 248 germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm|nucleus nucleotide binding|protein binding|RNA binding|translation activator activity RAF1/DAZL(2) endometrium(1)|large_intestine(3)|lung(4)|prostate(3) 11 TGCTTCGGTCCACAGATTTCT 0.343000 52 127 0 0 1 0 0 NEO1 4756 broad.mit.edu 37 15 73590889 73590889 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr15:73590889C>T ENST00000339362.5 + 28 4549 c.4102C>T c.(4102-4104)Ccg>Tcg p.P1368S NEO1_ENST00000261908.6_Missense_Mutation_p.P1368S|NEO1_ENST00000560262.1_Missense_Mutation_p.P1315S|NEO1_ENST00000558964.1_Missense_Mutation_p.P1357S Q92859 NEO1_HUMAN neogenin 1 1368 axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 GCCAGCAATCCCGCCTCCAGG 0.582000 52 56 0 0 1 0 0 DOT1L 84444 broad.mit.edu 37 19 2211778 2211778 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:2211778C>T ENST00000398665.3 + 16 1530 c.1494C>T c.(1492-1494)ttC>ttT p.F498F NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 498 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACCTGCAGTTCCTGGCATACA 0.607000 4 5 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10426900 10426900 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:10426900G>A ENST00000245503.5 - 37 5769 c.5385C>T c.(5383-5385)acC>acT p.T1795T CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.T1795T|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1795 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.T1795T(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GATCCTTCACGGTCTGCTCCA 0.567000 73 113 0 0 1 0 0 SPOCK2 9806 broad.mit.edu 37 10 73822656 73822656 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:73822656G>A ENST00000373109.2 - 11 1581 c.1137C>T c.(1135-1137)atC>atT p.I379I SPOCK2_ENST00000536168.1_Silent_p.I379I|SPOCK2_ENST00000317376.4_Silent_p.I379I NM_001244950.1 NP_001231879.1 Q92563 TICN2_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 379 extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly proteinaceous extracellular matrix calcium ion binding endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 AGAAGCCCACGATGTCATCTG 0.672000 6 16 0 0 1 0 0 TACR1 6869 broad.mit.edu 37 2 75425860 75425860 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:75425860C>T ENST00000305249.4 - 1 966 c.201G>A c.(199-201)acG>acA p.T67T TACR1_ENST00000409848.3_Silent_p.T67T NM_001058.3 NP_001049.1 P25103 NK1R_HUMAN tachykinin receptor 1 67 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior integral to plasma membrane protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1) 24 Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894) GAAAATAGTTCGTCACTGTCC 0.512000 34 29 0 0 1 0 0 OC90 729330 broad.mit.edu 37 8 133053349 133053349 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:133053349G>A ENST00000262283.5 - 9 1086 c.987C>T c.(985-987)ctC>ctT p.L329L OC90_ENST00000603859.1_Silent_p.L133L|OC90_ENST00000443356.2_Silent_p.L133L|OC90_ENST00000254627.3_Silent_p.L133L Q02509 OC90_HUMAN otoconin 90 133 Phospholipase A2-like 2. lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) CGGGGTCTTGGAGACAGTCCA 0.572000 59 195 0 0 1 0 0 OR13C2 392376 broad.mit.edu 37 9 107367267 107367267 + Silent SNP G G A rs148835250 byFrequency TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:107367267G>A ENST00000542196.1 - 1 684 c.642C>T c.(640-642)atC>atT p.I214I NM_001004481.1 NP_001004481.1 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, member 2 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 AAGAGACAATGATTAATAACA 0.433000 53 107 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 5860039 5860039 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:5860039G>A ENST00000327087.8 - 11 1212 c.1141C>T c.(1141-1143)Ctt>Ttt p.L381F ANO2_ENST00000356134.5_Missense_Mutation_p.L382F|ANO2_ENST00000546188.1_Missense_Mutation_p.L382F Q9NQ90 ANO2_HUMAN anoctamin 2 386 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 CATCCATAAAGAAACACAATC 0.353000 12 15 0 0 1 0 0 EBNA1BP2 10969 broad.mit.edu 37 1 43630414 43630414 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:43630414G>A ENST00000431635.2 - 9 1083 c.935C>T c.(934-936)tCa>tTa p.S312L EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.S257L NM_001159936.1 NP_001153408.1 Q99848 EBP2_HUMAN EBNA1 binding protein 2 257 ribosome biogenesis membrane fraction|nucleolus protein binding endometrium(1)|kidney(2)|large_intestine(4)|lung(9) 16 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GTTCCACTTTGAGCCTTTCTT 0.483000 39 98 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55449588 55449588 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:55449588C>T ENST00000588756.1 - 7 2439 c.1953G>A c.(1951-1953)ccG>ccA p.P651P NLRP7_ENST00000340844.2_Silent_p.P651P|NLRP7_ENST00000328092.5_Intron|NLRP7_ENST00000592784.1_Silent_p.P651P|NLRP7_ENST00000590030.1_Silent_p.P651P|NLRP7_ENST00000448121.2_Intron|NLRP7_ENST00000446217.1_Silent_p.P679P Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 651 P -> S (in HYDM). ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GAGCCCAGTTCGGAATGGTTA 0.488000 41 80 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77618097 77618097 + Missense_Mutation SNP G G T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:77618097G>T ENST00000521891.2 + 2 2222 c.1774G>T c.(1774-1776)Ggc>Tgc p.G592C ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G592C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G592C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G592C NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 592 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TCACCAGCATGGCTTTACCCC 0.582000 HNSCC(33;0.089) 44 59 4.06502e-11 4.10003e-11 1 1 0 SORCS3 22986 broad.mit.edu 37 10 106960878 106960878 + Splice_Site SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:106960878G>A ENST00000369701.3 + 16 2355 c.2127_splice c.e16-1 p.G710_splice SORCS3_ENST00000369699.4_5'UTR NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 710 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TCTCTCTAAGGGAGAGCCTTG 0.443000 31 50 0 0 1 0 0 TSPAN2 10100 broad.mit.edu 37 1 115600211 115600211 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:115600211C>T ENST00000369516.2 - 6 494 c.463G>A c.(463-465)Gaa>Aaa p.E155K TSPAN2_ENST00000369515.2_Missense_Mutation_p.E130K|TSPAN2_ENST00000369514.2_Missense_Mutation_p.E155K|TSPAN2_ENST00000491992.1_5'UTR NM_005725.4 NP_005716.2 O60636 TSN2_HUMAN tetraspanin 2 155 integral to membrane central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1) 10 Lung SC(450;0.211) all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) TCGGAGCTTTCTTTTCCACAG 0.502000 162 141 0 0 1 0 0 GLYATL1 92292 broad.mit.edu 37 11 58723453 58723453 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:58723453G>A ENST00000300079.5 + 7 1005 c.955G>A c.(955-957)Gag>Aag p.E319K RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Missense_Mutation_p.E288K NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 288 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) GGCCTCCTGTGAGTGGCACCA 0.428000 43 62 0 0 1 0 0 MARCH10 162333 broad.mit.edu 37 17 60802380 60802380 + Missense_Mutation SNP C C T rs147565657 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:60802380C>T ENST00000544856.2 - 8 2398 c.2020G>A c.(2020-2022)Gag>Aag p.E674K RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.E713K|MARCH10_ENST00000311269.5_Missense_Mutation_p.E675K|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.E675K|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 675 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 CCGCAAGGCTCCAGGAGGGGG 0.532000 47 86 0 0 1 0 0 CCDC115 84317 broad.mit.edu 37 2 131099446 131099446 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:131099446G>A ENST00000259229.2 - 2 406 c.183C>T c.(181-183)tcC>tcT p.S61S CCDC115_ENST00000409127.1_Silent_p.S56S|CCDC115_ENST00000437688.2_Silent_p.S56S NM_032357.2 NP_115733.2 Q96NT0 CC115_HUMAN coiled-coil domain containing 115 61 endosome|lysosome central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 7 Colorectal(110;0.1) GCTCCATGTGGGAAGCATACT 0.677000 18 26 0 0 1 0 0 BRINP2 57795 broad.mit.edu 37 1 177249810 177249810 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:177249810G>A ENST00000361539.4 + 8 1810 c.1498G>A c.(1498-1500)Gaa>Aaa p.E500K FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 500 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 CGAGTCCCTGGAAAACTTTCT 0.587000 18 67 0 0 1 0 0 DRGX 644168 broad.mit.edu 37 10 50594795 50594795 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:50594795C>T ENST00000374139.2 - 4 354 c.344G>A c.(343-345)aGa>aAa p.R115K DRGX_ENST00000434016.1_Missense_Mutation_p.R120K C9JW76 C9JW76_HUMAN dorsal root ganglia homeobox 120 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 GTTGATGTTTCTCACTGGAGG 0.642000 54 76 0 0 1 0 0 SLC22A8 9376 broad.mit.edu 37 11 62760805 62760805 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:62760805G>A ENST00000336232.2 - 11 1668 c.1533C>T c.(1531-1533)tcC>tcT p.S511S SLC22A8_ENST00000535878.1_Silent_p.S388S|SLC22A8_ENST00000430500.2_Silent_p.S511S|SLC22A8_ENST00000545207.1_Silent_p.S420S|SLC22A8_ENST00000311438.8_3'UTR NM_001184732.1|NM_001184736.1|NM_004254.3 NP_001171661.1|NP_001171665.1|NP_004245.2 Q8TCC7 S22A8_HUMAN solute carrier family 22 (organic anion transporter), member 8 511 response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 TTGCCCGCAGGGACCTAGGGA 0.617000 17 31 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57768675 57768675 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr20:57768675G>A ENST00000371030.2 + 1 2601 c.2601G>A c.(2599-2601)ggG>ggA p.G867G NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 867 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) AGGTGCCAGGGGGCTCAAAGG 0.657000 27 51 0 0 1 0 0 DDX60L 91351 broad.mit.edu 37 4 169351717 169351717 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:169351717G>A ENST00000511577.1 - 13 1836 c.1589C>T c.(1588-1590)tCg>tTg p.S530L DDX60L_ENST00000260184.7_Missense_Mutation_p.S530L|DDX60L_ENST00000505890.1_Missense_Mutation_p.S530L Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 530 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) TGATTCTAACGATTTCCCATA 0.368000 10 12 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 97311558 97311558 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:97311558C>T ENST00000389672.5 + 12 2527 c.2489C>T c.(2488-2490)tCt>tTt p.S830F EPHA6_ENST00000502694.1_Missense_Mutation_p.S222F|EPHA6_ENST00000442602.2_Missense_Mutation_p.S196F|EPHA6_ENST00000514100.1_Missense_Mutation_p.S222F NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 735 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 GGGGGAGGATCTTTGCCCCCC 0.542000 24 28 0 0 1 0 0 ZNF438 220929 broad.mit.edu 37 10 31138999 31138999 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:31138999G>A ENST00000538351.1 - 7 942 c.188C>T c.(187-189)tCc>tTc p.S63F ZNF438_ENST00000436087.2_Missense_Mutation_p.S112F|ZNF438_ENST00000452305.1_Missense_Mutation_p.S102F|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000442986.1_Missense_Mutation_p.S112F|ZNF438_ENST00000331737.6_Missense_Mutation_p.S102F|ZNF438_ENST00000361310.3_Missense_Mutation_p.S112F|ZNF438_ENST00000444692.2_Missense_Mutation_p.S102F|ZNF438_ENST00000413025.1_Missense_Mutation_p.S112F NM_001143769.1 NP_001137241.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) TTCAGGTAGGGACATTCTGGG 0.468000 58 116 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553020 140553020 + Missense_Mutation SNP C C T rs113945814 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:140553020C>T ENST00000231137.3 + 1 778 c.604C>T c.(604-606)Cgg>Tgg p.R202W NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 202 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGTGCTGGATCGGGAAGAGAT 0.507000 40 57 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79350694 79350694 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr15:79350694G>A ENST00000419573.3 - 3 787 c.513C>T c.(511-513)atC>atT p.I171I RASGRF1_ENST00000558480.2_Silent_p.I171I|RASGRF1_ENST00000560334.1_5'UTR NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 171 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TCAGCCGCTCGATCTCGATCT 0.602000 71 90 0 0 1 0 0 ABLIM1 3983 broad.mit.edu 37 10 116304847 116304847 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:116304847G>A ENST00000533213.2 - 6 932 c.631C>T c.(631-633)Ccg>Tcg p.P211S ABLIM1_ENST00000277895.5_Missense_Mutation_p.P271S|ABLIM1_ENST00000369252.4_Missense_Mutation_p.P211S O14639 ABLM1_HUMAN actin binding LIM protein 1 271 LIM zinc-binding 2. axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) TCACAGTACGGAGCACCATCC 0.542000 69 91 0 0 1 0 0 USP32 84669 broad.mit.edu 37 17 58366007 58366007 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:58366007G>A ENST00000300896.4 - 5 642 c.448C>T c.(448-450)Ctt>Ttt p.L150F USP32_ENST00000393003.3_Missense_Mutation_p.L150F NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 150 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) TTTAGAAAAAGCCAATTTCTA 0.333000 28 52 0 0 1 0 0 SAMD7 344658 broad.mit.edu 37 3 169639033 169639033 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:169639033G>A ENST00000428432.2 + 4 507 c.118G>A c.(118-120)Gac>Aac p.D40N SAMD7_ENST00000335556.3_Missense_Mutation_p.D40N NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 40 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) AGCTCCAACTGACCCAAGACA 0.413000 86 124 0 0 1 0 0 YJEFN3 374887 broad.mit.edu 37 19 19645861 19645861 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:19645861C>T ENST00000555938.1 + 5 346 c.334C>T c.(334-336)Ctc>Ttc p.L112F YJEFN3_ENST00000436027.4_Missense_Mutation_p.L63F|YJEFN3_ENST00000514277.3_Missense_Mutation_p.L113F GTTGCCCGCTCTCTCCCGGAA 0.642000 82 121 0 0 1 0 0 BCL3 602 broad.mit.edu 37 19 45254578 45254578 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:45254578G>A ENST00000164227.5 + 2 595 c.351G>A c.(349-351)atG>atA p.M117I NM_005178.4 NP_005169.2 P20749 BCL3_HUMAN B-cell CLL/lymphoma 3 117 Pro-rich. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm protein binding, bridging|transcription factor binding kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung NSC(12;0.000698)|all_lung(12;0.002) Ovarian(192;0.0728) TGTGCCCCATGGAACACCCCC 0.597000 T IGH@ CLL 48 96 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 60 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75101981 75101981 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:75101981C>T ENST00000326665.5 - 6 804 c.586G>A c.(586-588)Gct>Act p.A196T NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 196 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 GGAAACAGAGCTTCATTTTCC 0.328000 72 131 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152129199 152129199 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:152129199C>T ENST00000316073.3 - 3 440 c.376G>A c.(376-378)Gag>Aag p.E126K NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 126 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 CTTTCTTCCTCGTGCCTCTGT 0.547000 134 338 0 0 1 0 0 THAP4 51078 broad.mit.edu 37 2 242545739 242545739 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:242545739G>A ENST00000407315.1 - 3 1821 c.1390C>T c.(1390-1392)Ctg>Ttg p.L464L THAP4_ENST00000402136.1_Silent_p.L52L|THAP4_ENST00000402545.1_Silent_p.L52L NM_015963.5 NP_057047.4 Q8WY91 THAP4_HUMAN THAP domain containing 4 464 DNA binding|metal ion binding kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 9 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844) GAGAAGTTCAGCATGGGCTGG 0.582000 6 5 0 0 1 0 0 GTSF1L 149699 broad.mit.edu 37 20 42354906 42354906 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr20:42354906G>A ENST00000373003.1 - 1 732 c.429C>T c.(427-429)atC>atT p.I143I GTSF1L_ENST00000373005.2_Silent_p.I118I NM_001008901.1|NM_176791.3 NP_001008901.1|NP_789761.1 Q9H1H1 GTSFL_HUMAN gametocyte specific factor 1-like 143 metal ion binding endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CTGGTCTGAGGATCTTCTGGG 0.443000 46 82 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89398778 89398778 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr15:89398778G>A ENST00000439576.2 + 12 3336 c.2962G>A c.(2962-2964)Gga>Aga p.G988R ACAN_ENST00000561243.1_Missense_Mutation_p.G988R|ACAN_ENST00000559004.1_Missense_Mutation_p.G988R|ACAN_ENST00000352105.7_Missense_Mutation_p.G988R NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 988 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CACTGCCCCTGGAGTAGAGGA 0.542000 74 137 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803700 185803700 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:185803700C>T ENST00000302277.6 + 4 4171 c.3577C>T c.(3577-3579)Cct>Tct p.P1193S NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1193 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TGCACTCTTTCCTTCACTGCT 0.453000 112 208 0 0 1 0 0 GRIN1 2902 broad.mit.edu 37 9 140057149 140057149 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:140057149G>A ENST00000371561.3 + 14 3068 c.1971G>A c.(1969-1971)ctG>ctA p.L657L GRIN1_ENST00000315048.3_Silent_p.L657L|GRIN1_ENST00000371550.4_Silent_p.L657L|GRIN1_ENST00000371560.3_Silent_p.L678L|GRIN1_ENST00000371555.4_Silent_p.L678L|GRIN1_ENST00000371559.4_Silent_p.L657L|GRIN1_ENST00000371546.4_Silent_p.L678L|GRIN1_ENST00000371553.3_Silent_p.L678L|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000350902.5_Silent_p.L657L NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 657 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) TCCTGGTGCTGGACCGGCCGG 0.682000 4 19 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54912996 54912996 + Missense_Mutation SNP C C A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:54912996C>A ENST00000293373.6 + 16 1584 c.1505C>A c.(1504-1506)cCt>cAt p.P502H NCKAP1L_ENST00000545638.2_Missense_Mutation_p.P452H NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 502 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 GCTAAGGCCCCTCTGCACCTG 0.488000 46 79 1.61004e-24 1.63171e-24 1 1 0 EHMT1 79813 broad.mit.edu 37 9 140710440 140710440 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:140710440C>T ENST00000460843.1 + 23 3327 c.3300C>T c.(3298-3300)ccC>ccT p.P1100P NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 1100 Pre-SET. DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) CGGAGCCTCCCTTGATCTTCG 0.572000 11 21 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34182070 34182070 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:34182070C>T ENST00000373381.4 - 20 3209 c.3033G>A c.(3031-3033)ctG>ctA p.L1011L NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 971 CUB 6. 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) GGCCACTTTCCAGGTGGAAGG 0.572000 15 23 0 0 1 0 0 TRIM29 23650 broad.mit.edu 37 11 119999149 119999149 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:119999149C>T ENST00000341846.5 - 2 1280 c.859G>A c.(859-861)Gat>Aat p.D287N TRIM29_ENST00000541857.1_Missense_Mutation_p.D20N|TRIM29_ENST00000529044.1_Missense_Mutation_p.D26N NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 287 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) TCAGCTTCATCCTCAATCTCA 0.557000 22 36 0 0 1 0 0 TGM5 9333 broad.mit.edu 37 15 43527965 43527965 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr15:43527965G>A ENST00000220420.5 - 10 1423 c.1416C>T c.(1414-1416)tcC>tcT p.S472S TGM5_ENST00000349114.4_Silent_p.S390S NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 472 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) CTCCTCTTTGGGAGCCATGGA 0.582000 44 84 0 0 1 0 0 UBE4A 9354 broad.mit.edu 37 11 118245918 118245918 + Missense_Mutation SNP G G A rs145336832 byFrequency TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:118245918G>A ENST00000252108.3 + 9 1555 c.1424G>A c.(1423-1425)cGa>cAa p.R475Q UBE4A_ENST00000431736.2_Missense_Mutation_p.R482Q NM_001204077.1|NM_004788.3 NP_001191006.1|NP_004779.2 Q14139 UBE4A_HUMAN ubiquitination factor E4A 475 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 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;3.28e-05) GATGAAGAACGAAAAATTAAA 0.448000 20 34 0 0 1 0 0 ATP11A 23250 broad.mit.edu 37 13 113479850 113479850 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr13:113479850C>T ENST00000487903.1 + 11 1067 c.979C>T c.(979-981)Ccg>Tcg p.P327S ATP11A_ENST00000283558.8_Missense_Mutation_p.P327S|ATP11A_ENST00000375645.3_Missense_Mutation_p.P327S|ATP11A_ENST00000375630.2_Missense_Mutation_p.P327S P98196 AT11A_HUMAN ATPase, class VI, type 11A 327 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) TCGGGATGAGCCGTGGTATAA 0.483000 25 46 0 0 1 0 0 HEATR2 54919 broad.mit.edu 37 7 769331 769331 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:769331C>T ENST00000297440.6 + 2 647 c.627C>T c.(625-627)atC>atT p.I209I HEATR2_ENST00000313147.5_Silent_p.I209I|HEATR2_ENST00000438961.1_3'UTR NM_017802.3 NP_060272.3 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 209 protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) AGTCTCTGATCGGGCCCCTGA 0.627000 17 47 0 0 1 0 0 FMNL3 91010 broad.mit.edu 37 12 50041130 50041130 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:50041130C>T ENST00000335154.5 - 24 3033 c.2800G>A c.(2800-2802)Gcc>Acc p.A934T FMNL3_ENST00000550488.1_Missense_Mutation_p.A933T|FMNL3_ENST00000293590.5_Missense_Mutation_p.A934T|FMNL3_ENST00000352151.5_Missense_Mutation_p.A883T NM_175736.4 NP_783863.4 Q8IVF7 FMNL3_HUMAN formin-like 3 934 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1) 39 TTCTTGCGGGCTTCATTCTCT 0.587000 50 83 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23811825 23811825 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:23811825C>T ENST00000354639.3 + 15 2288 c.1824C>T c.(1822-1824)tcC>tcT p.S608S STK31_ENST00000428484.1_Silent_p.S608S|STK31_ENST00000355870.3_Silent_p.S631S|STK31_ENST00000433467.2_Silent_p.S631S|STK31_ENST00000405627.3_3'UTR NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 631 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 ACTTGCTATCCATTAAGAAGA 0.313000 28 58 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41352930 41352930 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:41352930G>A ENST00000551295.2 + 15 1815 c.1698G>A c.(1696-1698)ggG>ggA p.G566G CNTN1_ENST00000348761.2_Silent_p.G555G|CNTN1_ENST00000347616.1_Silent_p.G566G|CNTN1_ENST00000360099.3_Silent_p.G566G|CNTN1_ENST00000547849.1_Silent_p.G566G|CNTN1_ENST00000547702.1_Silent_p.G566G NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 566 Ig-like C2-type 6. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) ATTCCAATGGGGAATTACTAA 0.408000 28 44 0 0 1 0 0 RADIL 55698 broad.mit.edu 37 7 4856063 4856063 + Missense_Mutation SNP A A C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:4856063A>C ENST00000399583.3 - 8 1949 c.1762T>G c.(1762-1764)Tgc>Ggc p.C588G RADIL_ENST00000538469.1_Missense_Mutation_p.C348G|RADIL_ENST00000536091.1_Missense_Mutation_p.V534G NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 588 Dilute. cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) AATGGCGGGCACTCCAGGAGT 0.687000 4 14 0 0 1 0 0 SERPINB7 8710 broad.mit.edu 37 18 61471587 61471587 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr18:61471587G>A ENST00000398019.2 + 8 1186 c.861G>A c.(859-861)atG>atA p.M287I SERPINB7_ENST00000546027.1_Missense_Mutation_p.M287I|SERPINB7_ENST00000336429.2_Missense_Mutation_p.M287I|SERPINB7_ENST00000540675.1_Missense_Mutation_p.M270I NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 287 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) ATTATGAAATGAAACAATATT 0.398000 25 58 0 0 1 0 0 SLITRK6 84189 broad.mit.edu 37 13 86369098 86369098 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr13:86369098C>T ENST00000400286.2 - 2 2144 c.1546G>A c.(1546-1548)Gat>Aat p.D516N NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 516 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) CAGGGGTTATCCTCAAGGTCA 0.428000 49 60 0 0 1 0 0 AKAP10 11216 broad.mit.edu 37 17 19861716 19861716 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:19861716G>A ENST00000225737.6 - 4 645 c.488C>T c.(487-489)tCa>tTa p.S163L AKAP10_ENST00000572155.1_5'UTR|AKAP10_ENST00000395536.3_Missense_Mutation_p.S163L NM_007202.3 NP_009133.2 O43572 AKA10_HUMAN A kinase (PRKA) anchor protein 10 163 RGS 1. blood coagulation|protein localization cytosol|mitochondrion|plasma membrane signal transducer activity NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 21 all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165) CCAAGTTGTTGAATGAAAACT 0.438000 48 63 0 0 1 0 0 EML4 27436 broad.mit.edu 37 2 42543112 42543112 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:42543112C>T ENST00000318522.5 + 18 2240 c.1978C>T c.(1978-1980)Ctg>Ttg p.L660L EML4_ENST00000453191.2_Intron|EML4_ENST00000402711.2_Silent_p.L602L|EML4_ENST00000401738.3_Silent_p.L671L NM_019063.3 NP_061936.2 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 660 microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(543) NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 12 GTGGTTTGTTCTGGATGCAGA 0.353000 T ALK NSCLC 46 77 0 0 1 0 0 DDN 23109 broad.mit.edu 37 12 49390574 49390574 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:49390574G>A ENST00000421952.2 - 2 2106 c.2085C>T c.(2083-2085)ttC>ttT p.F695F NM_015086.1 NP_055901.2 O94850 DEND_HUMAN dendrin 695 Interaction with CD2AP and NPHS1 (By similarity). dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 8 CCCTCACCCCGAAGAGGACCT 0.547000 OREG0021778 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 65 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38905946 38905946 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:38905946C>T ENST00000359357.3 + 76 11363 c.11109C>T c.(11107-11109)atC>atT p.I3703I RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Silent_p.I3667I|DNAH8_ENST00000449981.2_Silent_p.I3920I dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TGGTCAACATCATGTATCAGA 0.507000 39 23 0 0 1 0 0 C12orf56 115749 broad.mit.edu 37 12 64679780 64679780 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:64679780C>T ENST00000543942.2 - 7 1800 c.1174G>A c.(1174-1176)Gat>Aat p.D392N C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Missense_Mutation_p.D232N NM_001170633.1 NP_001164104.1 Q8IXR9 CL056_HUMAN chromosome 12 open reading frame 56 395 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1) 15 GBM - Glioblastoma multiforme(3;0.000582) GBM - Glioblastoma multiforme(28;0.0259) GCATTCTTATCCCTAGACTCC 0.353000 16 31 0 0 1 0 0 CCDC57 284001 broad.mit.edu 37 17 80151677 80151677 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:80151677G>A ENST00000389641.4 - 6 842 c.806C>T c.(805-807)tCt>tTt p.S269F CCDC57_ENST00000392343.3_Missense_Mutation_p.S269F|CCDC57_ENST00000392347.1_Missense_Mutation_p.S269F Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 269 endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 16 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) TAGCTGCACAGAGTGAAGTTT 0.448000 3 11 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179649069 179649069 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:179649069C>T ENST00000589042.1 - 16 2727 c.2503G>A c.(2503-2505)Gcc>Acc p.A835T TTN_ENST00000359218.5_Missense_Mutation_p.A789T|TTN_ENST00000591111.1_Missense_Mutation_p.A835T|TTN_ENST00000342992.6_Missense_Mutation_p.A835T|TTN_ENST00000460472.2_Missense_Mutation_p.A789T|TTN_ENST00000360870.5_Missense_Mutation_p.A835T|TTN_ENST00000342175.6_Missense_Mutation_p.A789T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 835 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) GCACTACCGGCTATTGATGCC 0.448000 36 59 0 0 1 0 0 ALOXE3 59344 broad.mit.edu 37 17 8018372 8018372 + Nonsense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:8018372C>T ENST00000380149.1 - 4 936 c.906G>A c.(904-906)tgG>tgA p.W302* ALOXE3_ENST00000318227.3_Nonsense_Mutation_p.W278*|ALOXE3_ENST00000448843.2_Nonsense_Mutation_p.W146* Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 146 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 CATAGATCTTCCAGCTTCCGA 0.473000 61 121 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 419601 419601 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:419601G>A ENST00000256509.2 + 16 2494 c.1852G>A c.(1852-1854)Gat>Aat p.D618N CHL1_ENST00000397491.2_Missense_Mutation_p.D602N|CHL1-AS1_ENST00000417612.1_RNA NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 602 Fibronectin type-III 1. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CAGTGCTGCCGATATAACTCA 0.368000 44 85 0 0 1 0 0 CHRDL1 91851 broad.mit.edu 37 X 109931888 109931888 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chrX:109931888G>A ENST00000218054.4 - 9 1115 c.919C>T c.(919-921)Ccc>Tcc p.P307S CHRDL1_ENST00000482160.1_Missense_Mutation_p.P228S|CHRDL1_ENST00000372042.1_Missense_Mutation_p.P308S|CHRDL1_ENST00000434224.1_Missense_Mutation_p.P228S|CHRDL1_ENST00000394797.4_Missense_Mutation_p.P307S|CHRDL1_ENST00000372045.1_Missense_Mutation_p.P301S|CHRDL1_ENST00000444321.2_Missense_Mutation_p.P307S NM_001143981.1|NM_001143982.1|NM_145234.3 NP_001137453.1|NP_001137454.1|NP_660277.2 Q9BU40 CRDL1_HUMAN chordin-like 1 301 VWFC 3. BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1) 31 TACTTGCAGGGGTATCGATTG 0.473000 89 32 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124438107 124438107 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:124438107G>A ENST00000360013.3 + 60 8878 c.8751G>A c.(8749-8751)gtG>gtA p.V2917V KALRN_ENST00000291478.4_Silent_p.V1220V|KALRN_ENST00000428018.2_Silent_p.V1188V NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2916 Protein kinase. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TCATCAATGTGATCTTACAGG 0.512000 27 62 0 0 1 0 0 LINC01410 103352539 broad.mit.edu 37 9 66458014 66458014 + RNA SNP T T C rs75891239 by1000genomes TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:66458014T>C ENST00000424345.1 + 0 67 GGTGCTGCAGTGGCGGATCTT 0.721000 5 32 0 0 1 0 0 SASH3 54440 broad.mit.edu 37 X 128926407 128926407 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chrX:128926407C>T ENST00000356892.3 + 5 660 c.546C>T c.(544-546)acC>acT p.T182T NM_018990.3 NP_061863.1 O75995 SASH3_HUMAN SAM and SH3 domain containing 3 182 SH3. breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 12 GAGTCCACACCGACTTCACTC 0.622000 101 41 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108172972 108172972 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:108172972C>T ENST00000273353.3 - 22 2396 c.2340G>A c.(2338-2340)ggG>ggA p.G780G NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 780 Actin-binding (By similarity).|Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 GGCCCAGAAACCCAGCTTTAA 0.403000 33 55 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101794106 101794106 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:101794106C>T ENST00000506729.1 - 6 1282 c.1111G>A c.(1111-1113)Gat>Aat p.D371N SLCO6A1_ENST00000379807.3_Missense_Mutation_p.D371N|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.D309N|SLCO6A1_ENST00000379810.1_Intron Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 371 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) GCACATAAATCCTTGATATTA 0.303000 41 93 0 0 1 0 0 NR1H4 9971 broad.mit.edu 37 12 100928738 100928738 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:100928738C>T ENST00000548884.1 + 6 1198 c.657C>T c.(655-657)acC>acT p.T219T NR1H4_ENST00000188403.7_Silent_p.T229T|NR1H4_ENST00000551379.1_Silent_p.T233T|NR1H4_ENST00000392986.3_Silent_p.T223T|NR1H4_ENST00000549996.1_Silent_p.T172T NM_001206977.1|NM_001206979.1|NM_005123.3 NP_001193906.1|NP_001193908.1|NP_005114.1 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 233 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding p.T219T(3)|p.T233T(2) NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 44 CAGATCAGACCGTGAATGAAG 0.428000 31 61 0 0 1 0 0 INTS6-AS1 100507398 broad.mit.edu 37 13 52035444 52035444 + RNA SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr13:52035444G>A ENST00000594959.1 + 0 411 INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000600477.1_RNA ACAGAGCAGTGGGTGAAATGG 0.403000 9 19 0 0 1 0 0 HOXD10 3236 broad.mit.edu 37 2 176981927 176981927 + Missense_Mutation SNP A A T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:176981927A>T ENST00000249501.4 + 1 621 c.366A>T c.(364-366)aaA>aaT p.K122N HOXD10_ENST00000490088.2_Intron NM_002148.3 NP_002139.2 P28358 HXD10_HUMAN homeobox D10 122 nucleus sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) AGCGCAACAAACTCATTTCGG 0.498000 82 120 0 0 1 0 0 KCNJ10 3766 broad.mit.edu 37 1 160011957 160011957 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:160011957G>A ENST00000368089.3 - 2 592 c.366C>T c.(364-366)tcC>tcT p.S122S KCNJ10_ENST00000509700.1_5'UTR NM_002241.4 NP_002232.2 P78508 IRK10_HUMAN potassium inwardly-rectifying channel, subfamily J, member 10 122 integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGGATTCAAGGGAGAAGAGGA 0.577000 108 78 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119951997 119951997 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:119951997G>A ENST00000307142.4 + 4 2263 c.2067G>A c.(2065-2067)agG>agA p.R689R SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Silent_p.R689R|SYNPO2_ENST00000429713.2_Silent_p.R689R NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 689 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 AGGCCAAAAGGAGAAGCACGA 0.468000 19 58 0 0 1 0 0 SRGAP2 23380 broad.mit.edu 37 1 206613347 206613347 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:206613347G>A ENST00000414007.1 + 13 1370 c.1370G>A c.(1369-1371)aGa>aAa p.R457K SRGAP2_ENST00000419187.2_5'UTR O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 597 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(1)|breast(1)|kidney(1)|lung(1) 4 Breast(84;0.137) CTGCAGGAGAGAGCTCTGCAC 0.483000 17 58 0 0 1 0 0 BRWD3 254065 broad.mit.edu 37 X 79980482 79980482 + Missense_Mutation SNP A A T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chrX:79980482A>T ENST00000373275.4 - 15 1687 c.1471T>A c.(1471-1473)Ttt>Att p.F491I NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 491 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 TCCCAAATAAAAATGTTCCCA 0.383000 37 14 0 0 1 0 0 RBM27 54439 broad.mit.edu 37 5 145610319 145610319 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:145610319C>T ENST00000265271.5 + 6 855 c.689C>T c.(688-690)tCc>tTc p.S230F RBM27_ENST00000506502.1_Missense_Mutation_p.S230F NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 230 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAGCAGTATTCCTCTGGGGCA 0.463000 52 75 0 0 1 0 0 METTL14 57721 broad.mit.edu 37 4 119613142 119613142 + Nonsense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:119613142C>T ENST00000388822.4 + 5 498 c.331C>T c.(331-333)Cag>Tag p.Q111* METTL14_ENST00000506780.1_Nonsense_Mutation_p.Q73* Q9HCE5 MTL14_HUMAN methyltransferase like 14 111 nucleus mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1) 16 TTAGGGAACACAGAGCTTAAA 0.328000 42 94 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110853802 110853802 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr13:110853802C>T ENST00000375820.4 - 19 1188 c.1067G>A c.(1066-1068)gGa>gAa p.G356E COL4A1_ENST00000543140.1_Missense_Mutation_p.G356E NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 356 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GCCTGGCTCTCCTCTTGGCCC 0.562000 25 47 0 0 1 0 0 MATN2 4147 broad.mit.edu 37 8 98943539 98943539 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:98943539C>T ENST00000254898.5 + 3 732 c.501C>T c.(499-501)atC>atT p.I167I MATN2_ENST00000522025.2_Intron|MATN2_ENST00000520016.1_Silent_p.I167I|MATN2_ENST00000521689.1_Silent_p.I167I|MATN2_ENST00000524308.1_Silent_p.I167I NM_002380.3|NM_030583.2 NP_002371.3|NP_085072.2 O00339 MATN2_HUMAN matrilin 2 167 VWFA 1. proteinaceous extracellular matrix calcium ion binding p.I167I(2) breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) TCATAATGATCGTGACAGATG 0.597000 16 67 0 0 1 0 0 PHF21B 112885 broad.mit.edu 37 22 45309861 45309861 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr22:45309861G>A ENST00000313237.5 - 5 822 c.672C>T c.(670-672)ccC>ccT p.P224P PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000447824.3_Intron NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B 224 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) TGCCATggaggggtgaagggg 0.642000 53 65 0 0 1 0 0 DMXL1 1657 broad.mit.edu 37 5 118506206 118506206 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:118506206C>T ENST00000311085.8 + 24 5800 c.5720C>T c.(5719-5721)tCt>tTt p.S1907F DMXL1_ENST00000539542.1_Missense_Mutation_p.S1907F NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 1907 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TGTTCTCCTTCTTCTCCATTA 0.383000 59 99 0 0 1 0 0 DDX21 9188 broad.mit.edu 37 10 70730096 70730096 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:70730096C>T ENST00000354185.4 + 8 1474 c.1376C>T c.(1375-1377)gCt>gTt p.A459V NM_001256910.1|NM_004728.3 NP_001243839.1|NP_004719.2 Q9NR30 DDX21_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 21 459 Helicase C-terminal. nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 20 CAGAATTCAGCTATAAAGCAG 0.438000 17 25 0 0 1 0 0 MYO1B 4430 broad.mit.edu 37 2 192280925 192280925 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:192280925C>T ENST00000392318.3 + 30 3491 c.3244C>T c.(3244-3246)Ctc>Ttc p.L1082F MYO1B_ENST00000439065.2_Missense_Mutation_p.L327F|MYO1B_ENST00000304164.4_Missense_Mutation_p.L1082F|MYO1B_ENST00000392316.1_Missense_Mutation_p.L1053F|MYO1B_ENST00000339514.4_Missense_Mutation_p.L1024F NM_001130158.1 NP_001123630.1 O43795 MYO1B_HUMAN myosin IB 1082 myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1) 55 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) TCGCACAACTCTCAGCCAAAC 0.413000 68 118 0 0 1 0 0 ENOX1 55068 broad.mit.edu 37 13 43934182 43934182 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr13:43934182G>A ENST00000261488.6 - 7 971 c.394C>T c.(394-396)Cct>Tct p.P132S ENOX1_ENST00000482207.1_5'UTR|ENOX1_ENST00000412891.1_Missense_Mutation_p.P132S|ENOX1_ENST00000540032.1_5'UTR NM_001242863.1|NM_017993.3 NP_001229792.1|NP_060463.2 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 132 Pro-rich. electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1) 34 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) CTTGTGGAAGGAGGTGGAAGA 0.393000 21 46 0 0 1 0 0 SCYL2 55681 broad.mit.edu 37 12 100717409 100717409 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:100717409C>T ENST00000360820.2 + 11 1939 c.1502C>T c.(1501-1503)tCc>tTc p.S501F NM_017988.4 NP_060458.3 Q6P3W7 SCYL2_HUMAN SCY1-like 2 (S. cerevisiae) 501 endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1) 41 CAAACATCTTCCCTTGCGGTA 0.299000 32 39 0 0 1 0 0 OR51A7 119687 broad.mit.edu 37 11 4929509 4929509 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:4929509G>A ENST00000359350.4 + 1 910 c.910G>A c.(910-912)Ggg>Agg p.G304R MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004749.1 NP_001004749.1 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, member 7 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GAAGATCTTGGGGAAGTTGCT 0.398000 39 69 0 0 1 0 0 ZNF385A 25946 broad.mit.edu 37 12 54765286 54765286 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:54765286G>A ENST00000546970.1 - 6 864 c.575C>T c.(574-576)tCc>tTc p.S192F RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000394313.2_Missense_Mutation_p.S192F|ZNF385A_ENST00000551109.1_Missense_Mutation_p.S192F|ZNF385A_ENST00000551771.1_Intron|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000352268.6_Intron|ZNF385A_ENST00000338010.5_Missense_Mutation_p.S212F Q96PM9 Z385A_HUMAN zinc finger protein 385A 192 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1) 15 CTGGGACAGGGAGTTCACAGC 0.607000 80 143 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28992812 28992812 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr18:28992812G>A ENST00000359747.4 + 15 2463 c.2434G>A c.(2434-2436)Gaa>Aaa p.E812K RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.E793K NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 793 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TTATGCAGATGAAGATGAAGG 0.413000 45 62 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993488 140993488 + Nonsense_Mutation SNP C C T rs145052423 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chrX:140993488C>T ENST00000285879.4 + 4 584 c.298C>T c.(298-300)Cag>Tag p.Q100* MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 100 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CCAGAATTCTCAGAGTTCTCC 0.572000 HNSCC(15;0.026) 100 36 0 0 1 0 0 C8orf22 492307 broad.mit.edu 37 8 49987797 49987797 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:49987797G>A ENST00000399653.4 + 5 420 c.237G>A c.(235-237)atG>atA p.M79I C8orf22_ENST00000303202.8_3'UTR|C8orf22_ENST00000522267.1_3'UTR|C8orf22_ENST00000517663.1_3'UTR NM_001007176.4|NM_001256597.1 NP_001007177.1|NP_001243526.1 Q8WWR9 PDPFL_HUMAN chromosome 8 open reading frame 22 0 large_intestine(1)|lung(7)|prostate(1) 9 all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502) TATGTAGCATGAACAGTTGAT 0.463000 47 82 0 0 1 0 0 TIGD3 220359 broad.mit.edu 37 11 65124381 65124381 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:65124381G>A ENST00000309880.5 + 2 1309 c.1102G>A c.(1102-1104)Ggc>Agc p.G368S NM_145719.2 NP_663771.1 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 368 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2) 17 GCTGGCTCCCGGCAAAACGCC 0.632000 53 109 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182344910 182344910 + Missense_Mutation SNP C C G TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:182344910C>G ENST00000397033.2 + 6 1101 c.671C>G c.(670-672)tCt>tGt p.S224C NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 224 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TGGACTGGCTCTCTTTTTGTC 0.303000 31 53 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140640985 140640985 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:140640985C>T ENST00000509479.2 - 5 3765 c.2909G>A c.(2908-2910)gGc>gAc p.G970D MGST2_ENST00000515137.1_Intron NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 966 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) CCCAGGCATGCCCTGCAAGCT 0.597000 29 58 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38802765 38802765 + Silent SNP G G A rs149892218 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:38802765G>A ENST00000449082.2 - 6 800 c.801C>T c.(799-801)ctC>ctT p.L267L NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 267 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) TGCCCTTGAAGAGTTGCAGCC 0.468000 43 46 0 0 1 0 0 ZKSCAN7 55888 broad.mit.edu 37 3 44612295 44612295 + Missense_Mutation SNP T T C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:44612295T>C ENST00000273320.3 + 6 2122 c.1693T>C c.(1693-1695)Tgt>Cgt p.C565R ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.C565R|ZKSCAN7_ENST00000431636.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Intron NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 TCGGAGTAAATGTCTTATTCG 0.428000 38 86 0 0 1 0 0 EZR 7430 broad.mit.edu 37 6 159205710 159205710 + Nonsense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:159205710G>A ENST00000367075.3 - 6 685 c.517C>T c.(517-519)Cag>Tag p.Q173* EZR_ENST00000392177.4_Nonsense_Mutation_p.Q141*|EZR_ENST00000476189.1_5'UTR|EZR_ENST00000337147.7_Nonsense_Mutation_p.Q173* NM_001111077.1 NP_001104547.1 P15311 EZRI_HUMAN ezrin 173 FERM. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding EZR/ROS1(4) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2) 15 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) TGCCACACCTGGATCCGGTCC 0.547000 T ROS1 NSCLC 17 9 0 0 1 0 0 SULT1A1 6817 broad.mit.edu 37 16 28617510 28617510 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr16:28617510G>A ENST00000395609.1 - 9 1400 c.642C>T c.(640-642)tcC>tcT p.S214S SULT1A1_ENST00000569554.1_Silent_p.S214S|SULT1A1_ENST00000395607.1_Silent_p.S214S|SULT1A1_ENST00000350842.4_Silent_p.S136S|SULT1A1_ENST00000314752.7_Silent_p.S214S P50225 ST1A1_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 214 3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2) 16 CCTCTGGCAGGGAGCGCCCCA 0.547000 19 81 0 0 1 0 0 KERA 11081 broad.mit.edu 37 12 91449860 91449860 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:91449860G>A ENST00000266719.3 - 2 446 c.199C>T c.(199-201)Cct>Tct p.P67S NM_007035.3 NP_008966.1 O60938 KERA_HUMAN keratocan 67 LRRNT. response to stimulus|visual perception proteinaceous extracellular matrix breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2) 19 GGAATAGCAGGAATTTCTTTG 0.388000 51 67 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564145 176564145 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:176564145C>T ENST00000367662.3 + 3 2569 c.1405C>T c.(1405-1407)Ccc>Tcc p.P469S PAPPA2_ENST00000367661.3_Missense_Mutation_p.P469S NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 469 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 AGAGTGGGTTCCCTTTAGAGA 0.537000 104 83 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57327571 57327571 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:57327571C>T ENST00000326441.9 - 10 2602 c.2239G>A c.(2239-2241)Gaa>Aaa p.E747K PEG3_ENST00000593695.1_Missense_Mutation_p.E621K|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E747K|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E623K|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 747 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) AACGCCTTTTCGTCCTCATCA 0.408000 97 149 0 0 1 0 0 CNTD2 79935 broad.mit.edu 37 19 40732319 40732319 + Missense_Mutation SNP T T C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:40732319T>C ENST00000430325.2 - 1 278 c.230A>G c.(229-231)gAa>gGa p.E77G CNTD2_ENST00000433940.1_Missense_Mutation_p.E77G NM_024877.3 NP_079153.2 B4DX65 B4DX65_HUMAN cyclin N-terminal domain containing 2 77 regulation of cyclin-dependent protein kinase activity protein kinase binding lung(1)|prostate(1) 2 GTACTCGCGTTCTCCCTGCAG 0.746000 8 30 0 0 1 0 0 SLC16A14 151473 broad.mit.edu 37 2 230910800 230910800 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:230910800C>T ENST00000295190.4 - 4 1500 c.1042G>A c.(1042-1044)Gag>Aag p.E348K NM_152527.4 NP_689740.2 Q7RTX9 MOT14_HUMAN solute carrier family 16, member 14 348 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) TCGTTTTGCTCCGATAAGTTA 0.418000 22 53 0 0 1 0 0 ZNF80 7634 broad.mit.edu 37 3 113955475 113955475 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:113955475G>A ENST00000482457.2 - 1 950 c.447C>T c.(445-447)atC>atT p.I149I NM_007136.3 NP_009067.2 P51504 ZNF80_HUMAN zinc finger protein 80 149 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2) 32 Lung NSC(201;0.0233)|all_neural(597;0.0837) CACGATGCTGGATGAAGACAG 0.493000 51 81 0 0 1 0 0 C9orf96 169436 broad.mit.edu 37 9 136260755 136260755 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:136260755C>T ENST00000371957.3 + 9 838 c.731C>T c.(730-732)tCc>tTc p.S244F C9orf96_ENST00000371955.1_5'UTR NM_153710.3 NP_714921.3 Q8NE28 SGK71_HUMAN chromosome 9 open reading frame 96 244 Protein kinase. ATP binding|protein kinase activity autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2) 25 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CTGCGGAAGTCCCTCCGCCAG 0.557000 28 58 0 0 1 0 0 KCNA1 3736 broad.mit.edu 37 12 5021406 5021406 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:5021406C>T ENST00000382545.3 + 2 1969 c.862C>T c.(862-864)Ctg>Ttg p.L288L KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 288 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GGCCACCTCCCTGGCCATCCT 0.547000 50 92 0 0 1 0 0 ZNF792 126375 broad.mit.edu 37 19 35449466 35449466 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:35449466G>A ENST00000404801.1 - 4 1679 c.1293C>T c.(1291-1293)ttC>ttT p.F431F ZNF792_ENST00000605484.1_Silent_p.F364F NM_175872.4 NP_787068.3 Q3KQV3 ZN792_HUMAN zinc finger protein 792 431 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) CAATGTGGCTGAAGAATTTCC 0.483000 35 70 0 0 1 0 0 SMC2 10592 broad.mit.edu 37 9 106882313 106882313 + Nonsense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:106882313C>T ENST00000286398.7 + 16 2290 c.2002C>T c.(2002-2004)Cga>Tga p.R668* SMC2_ENST00000374793.3_Nonsense_Mutation_p.R668*|SMC2_ENST00000374787.3_Nonsense_Mutation_p.R668*|SMC2_ENST00000303219.8_Nonsense_Mutation_p.R668* NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 668 Flexible hinge. cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 ATCAGGTGCTCGATCCCAGGC 0.393000 78 141 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 73012685 73012685 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:73012685C>T ENST00000261180.4 + 13 2297 c.2201C>T c.(2200-2202)cCt>cTt p.P734L TRHDE_ENST00000549138.1_3'UTR NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 734 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 GGCTATTTGCCTCAGAATATT 0.373000 37 83 0 0 1 0 0 XPO6 23214 broad.mit.edu 37 16 28188547 28188547 + Silent SNP A A G TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr16:28188547A>G ENST00000304658.5 - 3 701 c.201T>C c.(199-201)gtT>gtC p.V67V XPO6_ENST00000565698.1_Silent_p.V53V NM_015171.2 NP_055986.1 Q96QU8 XPO6_HUMAN exportin 6 67 Importin N-terminal. protein export from nucleus protein binding|protein transporter activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 TTACCTCAAAAACTGTTAAAC 0.373000 30 23 0 0 1 0 0 GNA15 2769 broad.mit.edu 37 19 3157847 3157847 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:3157847C>T ENST00000262958.3 + 6 1124 c.866C>T c.(865-867)tCc>tTc p.S289F NM_002068.2 NP_002059.2 P30679 GNA15_HUMAN guanine nucleotide binding protein (G protein), alpha 15 (Gq class) 289 activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184) ATCCCCACCTCCCACCTGGCT 0.473000 77 110 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10442709 10442709 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:10442709C>T ENST00000397077.1 - 7 1284 c.709G>A c.(709-711)Gat>Aat p.D237N ATP2B2_ENST00000352432.4_Missense_Mutation_p.D237N|ATP2B2_ENST00000360273.2_Missense_Mutation_p.D237N|ATP2B2_ENST00000343816.4_Missense_Mutation_p.D237N|ATP2B2_ENST00000383800.4_Missense_Mutation_p.D237N Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 237 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 GAGCTTTCATCAATCTTGAGG 0.587000 29 47 0 0 1 0 0 RHNO1 83695 broad.mit.edu 37 12 2994575 2994575 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:2994575C>T ENST00000489288.2 + 2 195 c.43C>T c.(43-45)Ccg>Tcg p.P15S RHNO1_ENST00000464682.2_Intron|RHNO1_ENST00000461997.2_Missense_Mutation_p.P15S NM_001252499.2|NM_001257097.1|NM_001257098.1 NP_001239428.1|NP_001244026.1|NP_001244027.1 RAD9-HUS1-RAD1 interacting nuclear orphan 1 CCAGAAAGCCCCGCTGCTGTT 0.557000 42 73 0 0 1 0 0 HERC2P4 100289574 broad.mit.edu 37 16 32163535 32163535 + RNA SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr16:32163535C>T ENST00000564145.1 - 0 65 GGTGCCTTCTCCAAACTCATC 0.572000 24 86 0 0 1 0 0 NSA2 10412 broad.mit.edu 37 5 74066523 74066523 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:74066523G>A ENST00000296802.5 + 4 779 c.410G>A c.(409-411)cGa>cAa p.R137Q NSA2_ENST00000513356.1_3'UTR NM_014886.3 NP_055701.1 O95478 NSA2_HUMAN NSA2 ribosome biogenesis homolog (S. cerevisiae) 137 Lys-rich. rRNA processing nucleolus|ribonucleoprotein complex breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1) 7 AAAGTTATTCGAACAGGAAAG 0.373000 50 66 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41176598 41176598 + Missense_Mutation SNP T T C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:41176598T>C ENST00000263413.3 - 8 1411 c.1147A>G c.(1147-1149)Agt>Ggt p.S383G C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.S383G NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 383 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) AGTTCCTCACTGCTAAACTGA 0.403000 27 42 0 0 1 0 0 ALDH16A1 126133 broad.mit.edu 37 19 49963067 49963067 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:49963067C>T ENST00000293350.4 + 4 624 c.461C>T c.(460-462)tCc>tTc p.S154F ALDH16A1_ENST00000540132.1_Intron|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.S154F|ALDH16A1_ENST00000433981.2_5'UTR NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 154 oxidoreductase activity|protein binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) ATCCAGGCATCCACCCAGGAG 0.637000 27 52 0 0 1 0 0 SLC4A5 57835 broad.mit.edu 37 2 74466653 74466653 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:74466653G>A ENST00000394019.2 - 21 2525 c.2128C>T c.(2128-2130)Ctt>Ttt p.L710F RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.L710F|SLC4A5_ENST00000358683.4_Missense_Mutation_p.L646F|SLC4A5_ENST00000359484.4_Missense_Mutation_p.L646F|SLC4A5_ENST00000377634.4_Missense_Mutation_p.L710F|SLC4A5_ENST00000346834.4_Missense_Mutation_p.L710F|SLC4A5_ENST00000377632.1_Missense_Mutation_p.L710F|SLC4A5_ENST00000357822.5_Missense_Mutation_p.L710F|SLC4A5_ENST00000483195.1_5'UTR NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 710 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GTGAGGTTAAGGAGGTTGTAC 0.557000 44 82 0 0 1 0 0 PDPN 10630 broad.mit.edu 37 1 13940885 13940885 + Missense_Mutation SNP G G A rs147446446 byFrequency TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:13940885G>A ENST00000294489.6 + 5 1030 c.689G>A c.(688-690)cGa>cAa p.R230Q PDPN_ENST00000376061.4_Missense_Mutation_p.R112Q|PDPN_ENST00000475043.1_Missense_Mutation_p.R112Q|PDPN_ENST00000509009.1_Missense_Mutation_p.R149Q|PDPN_ENST00000487038.1_Missense_Mutation_p.R112Q|PDPN_ENST00000513143.1_Missense_Mutation_p.R112Q|PDPN_ENST00000376057.4_Missense_Mutation_p.R230Q Q86YL7 PDPN_HUMAN podoplanin 154 cell morphogenesis|lymphangiogenesis|regulation of cell shape filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) GTGGTTATGCGAAAAATGTCG 0.418000 32 64 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137814163 137814163 + Nonsense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:137814163C>T ENST00000409968.1 + 3 491 c.313C>T c.(313-315)Cag>Tag p.Q105* THSD7B_ENST00000272643.3_Nonsense_Mutation_p.Q105*|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.Q74* thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TGACCTCTTTCAGTGGGAGGT 0.537000 26 33 0 0 1 0 0 IL23R 149233 broad.mit.edu 37 1 67705956 67705956 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:67705956C>T ENST00000347310.5 + 9 1311 c.1140C>T c.(1138-1140)ttC>ttT p.F380F IL23R_ENST00000395227.1_Silent_p.F125F|IL23R_ENST00000473881.1_Intron|IL23R_ENST00000371002.1_Intron NM_144701.2 NP_653302.2 Q5VWK5 IL23R_HUMAN interleukin 23 receptor 380 inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 21 ACAGATCATTCCGAACTGGGT 0.328000 24 41 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141986780 141986780 + Nonsense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:141986780C>T ENST00000389484.3 - 6 1793 c.822G>A c.(820-822)tgG>tgA p.W274* NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 274 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TATTGATTGTCCATTCATCTG 0.328000 TSP Lung(27;0.18) 29 71 0 0 1 0 0 PLEKHS1 79949 broad.mit.edu 37 10 115534607 115534607 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:115534607G>A ENST00000354462.3 + 3 192 c.34G>A c.(34-36)Gag>Aag p.E12K PLEKHS1_ENST00000369309.1_Missense_Mutation_p.E82K|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.E262K|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.E268K|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.E180K pleckstrin homology domain containing, family S member 1 GACATCCCATGAGTCTGTGGA 0.453000 62 90 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95560406 95560406 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:95560406G>A ENST00000526495.1 - 26 5474 c.5183C>T c.(5182-5184)tCc>tTc p.S1728F DICER1_ENST00000541352.1_Missense_Mutation_p.S1728F|DICER1_ENST00000393063.1_Missense_Mutation_p.S1728F|DICER1_ENST00000556045.1_Missense_Mutation_p.S626F|DICER1_ENST00000527414.1_Missense_Mutation_p.S1728F|DICER1_ENST00000343455.3_Missense_Mutation_p.S1728F Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1728 RNase III 2. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) GACCCCCGGGGAGTGCTGCCG 0.532000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 38 74 0 0 1 0 0 MYBPHL 343263 broad.mit.edu 37 1 109849468 109849468 + Splice_Site SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:109849468C>T ENST00000357155.1 - 1 195 c.e1+1 MYBPHL_ENST00000477962.1_Splice_Site NM_001010985.2|NM_001265613.1 NP_001010985.2|NP_001252542.1 A2RUH7 MBPHL_HUMAN myosin binding protein H-like central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2) 14 all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822) Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225) CCATGGGTCACCTTCTATAGG 0.642000 13 31 0 0 1 0 0 PARP9 83666 broad.mit.edu 37 3 122271276 122271276 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:122271276G>A ENST00000462315.1 - 5 1389 c.1096C>T c.(1096-1098)Cct>Tct p.P366S PARP9_ENST00000477522.2_Missense_Mutation_p.P366S|PARP9_ENST00000360356.2_Missense_Mutation_p.P401S|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Missense_Mutation_p.P366S NM_001146106.1 NP_001139578.1 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 401 Macro 2. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) TGAGGTTTAGGAAATTCTGAA 0.318000 27 48 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35732408 35732408 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:35732408C>T ENST00000187397.4 + 9 1053 c.597C>T c.(595-597)gtC>gtT p.V199V ARPP21_ENST00000337271.5_Silent_p.V199V|ARPP21_ENST00000444190.1_Silent_p.V199V|ARPP21_ENST00000417925.1_Silent_p.V199V|ARPP21_ENST00000458225.1_Silent_p.V199V NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 199 R3H. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 GGATGCTTGTCCATCGAGTGG 0.383000 54 70 0 0 1 0 0 ZMAT4 79698 broad.mit.edu 37 8 40532393 40532393 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:40532393G>A ENST00000297737.6 - 5 553 c.407C>T c.(406-408)tCt>tTt p.S136F ZMAT4_ENST00000315769.7_Intron NM_024645.2 NP_078921.1 Q9H898 ZMAT4_HUMAN zinc finger, matrin-type 4 136 nucleus DNA binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) TTGATAGGGAGATGCGACCAC 0.517000 120 170 0 0 1 0 0 PPP1R9B 84687 broad.mit.edu 37 17 48222508 48222508 + Silent SNP A A G TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:48222508A>G ENST00000316878.6 - 4 1470 c.1468T>C c.(1468-1470)Ttg>Ctg p.L490L AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR NM_032595.3 NP_115984.3 Q96SB3 NEB2_HUMAN protein phosphatase 1, regulatory subunit 9B 490 Interacts with RGS2 (By similarity).|Interacts with protein phosphatase 1 (By similarity). cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 AACAGCTCCAACCTCTCCACA 0.597000 29 45 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37454062 37454062 + Silent SNP A A G TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:37454062A>G ENST00000374660.1 + 18 1974 c.1875A>G c.(1873-1875)gaA>gaG p.E625E ANKRD30A_ENST00000361713.1_Silent_p.E625E|ANKRD30A_ENST00000602533.1_Silent_p.E625E Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 681 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AGGACTATGAAGAAAATTCTT 0.289000 33 60 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 68526075 68526075 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:68526075C>T ENST00000433211.1 - 9 1402 c.1228G>A c.(1228-1230)Gaa>Aaa p.E410K CTNNA3_ENST00000494580.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.E410K NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 410 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 TCTTTTATTTCCTTTTCCCGG 0.443000 68 135 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77626767 77626767 + Splice_Site SNP T T A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:77626767T>A ENST00000461745.1 + 15 3228 c.e15+2 ROBO2_ENST00000487694.3_Splice_Site|ROBO2_ENST00000332191.8_Splice_Site NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GAATACAAGGTAGGACCCGGG 0.438000 24 41 0 0 1 0 0 LLGL2 3993 broad.mit.edu 37 17 73560510 73560510 + Missense_Mutation SNP G G A rs34553577 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:73560510G>A ENST00000392550.3 + 10 1075 c.958G>A c.(958-960)Gat>Aat p.D320N LLGL2_ENST00000577200.1_Missense_Mutation_p.D320N|LLGL2_ENST00000375227.4_Missense_Mutation_p.D320N|LLGL2_ENST00000578363.1_Missense_Mutation_p.D320N|LLGL2_ENST00000167462.5_Missense_Mutation_p.D320N NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 320 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding p.D320N(2) NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) AGTGATCCACGATGGCCAGCA 0.637000 32 52 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76744409 76744409 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:76744409C>T ENST00000369963.3 - 2 352 c.163G>A c.(163-165)Gag>Aag p.E55K IMPG1_ENST00000369950.3_Missense_Mutation_p.E133K Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 133 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) CAGAAGGTCTCCTGCTGGCAG 0.498000 48 26 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237777681 237777681 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:237777681C>T ENST00000366574.2 + 37 5570 c.5253C>T c.(5251-5253)atC>atT p.I1751I RYR2_ENST00000360064.6_Silent_p.I1749I|RYR2_ENST00000542537.1_Silent_p.I1735I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1751 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTCCAGGGATCGGCCTCAGCA 0.517000 25 68 0 0 1 0 0 GUCY2D 3000 broad.mit.edu 37 17 7911259 7911259 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:7911259G>A ENST00000254854.4 + 7 1727 c.1577G>A c.(1576-1578)gGg>gAg p.G526E NM_000180.3 NP_000171.1 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 526 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) GTGGCCCAGGGGAGTCGATCA 0.542000 9 37 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119951996 119951996 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:119951996G>A ENST00000307142.4 + 4 2262 c.2066G>A c.(2065-2067)aGg>aAg p.R689K SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.R689K|SYNPO2_ENST00000429713.2_Missense_Mutation_p.R689K NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 689 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GAGGCCAAAAGGAGAAGCACG 0.468000 18 59 0 0 1 0 0 DGCR14 8220 broad.mit.edu 37 22 19127225 19127225 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr22:19127225G>A ENST00000252137.6 - 5 631 c.588C>T c.(586-588)ctC>ctT p.L196L NM_022719.2 NP_073210.1 Q96DF8 DGC14_HUMAN DiGeorge syndrome critical region gene 14 196 nervous system development catalytic step 2 spliceosome breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 16 Colorectal(54;0.0993) ACGGGAGTTCGAGATTATCTT 0.562000 43 88 0 0 1 0 0 IKZF1 10320 broad.mit.edu 37 7 50467675 50467675 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:50467675G>A ENST00000331340.3 + 8 1065 c.910G>A c.(910-912)Gaa>Aaa p.E304K IKZF1_ENST00000343574.5_Missense_Mutation_p.E217K|IKZF1_ENST00000438033.1_Missense_Mutation_p.E217K|IKZF1_ENST00000357364.4_Missense_Mutation_p.E217K|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000346667.4_Missense_Mutation_p.E74K|IKZF1_ENST00000439701.1_Missense_Mutation_p.E262K|IKZF1_ENST00000359197.5_Missense_Mutation_p.E262K|IKZF1_ENST00000349824.4_Missense_Mutation_p.E161K NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 304 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(28) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) GAAGGAGAACGAAATGATGAA 0.652000 """D,T""" BCL6 """ALL, DLBCL""" 10 16 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155505958 155505958 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:155505958G>A ENST00000302053.3 - 6 1997 c.1919C>T c.(1918-1920)cCt>cTt p.P640L NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 640 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) GGTACCTGAAGGATGTGTTTG 0.388000 28 56 0 0 1 0 0 UNC45B 146862 broad.mit.edu 37 17 33497236 33497236 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:33497236G>A ENST00000268876.5 + 12 1748 c.1651G>A c.(1651-1653)Gac>Aac p.D551N UNC45B_ENST00000591048.1_Intron|UNC45B_ENST00000433649.1_Missense_Mutation_p.D551N|UNC45B_ENST00000394570.2_Missense_Mutation_p.D551N|UNC45B_ENST00000378449.1_Intron NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 551 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) CTTTGTCCAGGACGTCCCTGC 0.622000 26 38 0 0 1 0 0 ADRBK1 156 broad.mit.edu 37 11 67047099 67047099 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:67047099C>T ENST00000308595.5 + 5 659 c.369C>T c.(367-369)ccC>ccT p.P123P ADRBK1_ENST00000526285.1_Silent_p.P123P NM_001619.3 NP_001610.2 P25098 ARBK1_HUMAN adrenergic, beta, receptor kinase 1 123 N-terminal.|RGS. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) TTCCCCAGCCCTTCTCGAAGA 0.627000 23 68 0 0 1 0 0 LZTFL1 54585 broad.mit.edu 37 3 45874551 45874551 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:45874551G>A ENST00000296135.6 - 5 621 c.447C>T c.(445-447)ctC>ctT p.L149L LZTFL1_ENST00000539217.1_Silent_p.L145L|LZTFL1_ENST00000536047.1_Silent_p.L132L|LZTFL1_ENST00000490463.1_5'UTR NM_001276378.1|NM_020347.2 NP_001263307.1|NP_065080.1 Q9NQ48 LZTL1_HUMAN leucine zipper transcription factor-like 1 149 endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 8 BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208) CCTTGTTTAGGAGTTCTGCTG 0.393000 36 55 0 0 1 0 0 CNOT2 4848 broad.mit.edu 37 12 70732278 70732278 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:70732278G>A ENST00000229195.3 + 10 1535 c.956G>A c.(955-957)gGa>gAa p.G319E CNOT2_ENST00000551483.1_5'UTR|CNOT2_ENST00000418359.3_Missense_Mutation_p.G319E NM_014515.5 NP_055330.1 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 319 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1) 20 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) AAATTCCCTGGAGATAAAAGT 0.328000 47 87 0 0 1 0 0 CADPS 8618 broad.mit.edu 37 3 62463999 62463999 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:62463999C>T ENST00000383710.4 - 23 3615 c.3266G>A c.(3265-3267)gGa>gAa p.G1089E CADPS_ENST00000283269.9_Missense_Mutation_p.G1050E|CADPS_ENST00000357948.3_Missense_Mutation_p.G1010E NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 1089 Interaction with DRD2.|MHD1. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) CAGGTGCTTTCCAAACTCTTC 0.502000 42 59 0 0 1 0 0 GRIK5 2901 broad.mit.edu 37 19 42509959 42509959 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:42509959C>T ENST00000262895.3 - 16 2178 c.2179G>A c.(2179-2181)Gaa>Aaa p.E727K GRIK5_ENST00000593562.1_Missense_Mutation_p.E727K|GRIK5_ENST00000301218.4_Missense_Mutation_p.E727K NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 727 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) CGGTGGTATTCGTTCATGGTG 0.627000 17 26 0 0 1 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58189626 58189626 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:58189626C>T ENST00000318203.5 + 5 1352 c.655C>T c.(655-657)Cta>Tta p.L219L NM_152677.2 NP_689890.1 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 219 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1) 30 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AATAGTTTCCCTAATCATCAT 0.408000 30 33 0 0 1 0 0 GDF10 2662 broad.mit.edu 37 10 48428968 48428968 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:48428968C>T ENST00000224605.2 - 2 1183 c.918G>A c.(916-918)ctG>ctA p.L306L NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 306 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 GCCTCTCATCCAGCCCCGGCA 0.741000 8 19 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 97915658 97915658 + Nonsense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:97915658C>T ENST00000370192.3 - 14 1962 c.1862G>A c.(1861-1863)tGg>tAg p.W621* NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 621 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) ACTTTGACACCAATATGCAGC 0.438000 53 82 0 0 1 0 0 WDR76 79968 broad.mit.edu 37 15 44150935 44150935 + Silent SNP T T C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr15:44150935T>C ENST00000263795.6 + 11 1546 c.1476T>C c.(1474-1476)acT>acC p.T492T WDR76_ENST00000381246.2_Silent_p.T428T|WDR76_ENST00000478130.1_3'UTR NM_001167941.1|NM_024908.3 NP_001161413.1|NP_079184.2 Q9H967 WDR76_HUMAN WD repeat domain 76 492 breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2) 20 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07) TTTCTTTGACTGAACATACAA 0.408000 52 99 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41352931 41352931 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:41352931G>A ENST00000551295.2 + 15 1816 c.1699G>A c.(1699-1701)Gaa>Aaa p.E567K CNTN1_ENST00000348761.2_Missense_Mutation_p.E556K|CNTN1_ENST00000347616.1_Missense_Mutation_p.E567K|CNTN1_ENST00000360099.3_Missense_Mutation_p.E567K|CNTN1_ENST00000547849.1_Missense_Mutation_p.E567K|CNTN1_ENST00000547702.1_Missense_Mutation_p.E567K NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 567 Ig-like C2-type 6. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TTCCAATGGGGAATTACTAAT 0.403000 28 42 0 0 1 0 0 ICAM5 7087 broad.mit.edu 37 19 10403393 10403393 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:10403393G>A ENST00000221980.4 + 5 1130 c.1067G>A c.(1066-1068)gGa>gAa p.G356E NM_003259.3 NP_003250.3 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5, telencephalin 356 Ig-like C2-type 4. cell-cell adhesion integral to plasma membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) ACACTGGAGGGAGTTCCAGCC 0.657000 18 28 0 0 1 0 0 SHOX2 6474 broad.mit.edu 37 3 157820623 157820623 + Silent SNP T T C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:157820623T>C ENST00000490689.2 - 2 1545 c.12A>G c.(10-12)gaA>gaG p.E4E SHOX2_ENST00000483851.2_Silent_p.E133E|SHOX2_ENST00000441443.2_Silent_p.E4E|SHOX2_ENST00000425436.3_Silent_p.E133E|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000389589.4_Silent_p.E157E O60902 SHOX2_HUMAN short stature homeobox 2 133 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1) 20 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) TGGTCTGGCCTTCGTCCTCCA 0.572000 59 98 0 0 1 0 0 GUCY2D 3000 broad.mit.edu 37 17 7911260 7911260 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:7911260G>A ENST00000254854.4 + 7 1728 c.1578G>A c.(1576-1578)ggG>ggA p.G526G NM_000180.3 NP_000171.1 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 526 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) TGGCCCAGGGGAGTCGATCAA 0.537000 9 38 0 0 1 0 0 TUBAL3 79861 broad.mit.edu 37 10 5435975 5435975 + Silent SNP G G A rs142943186 byFrequency TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:5435975G>A ENST00000380419.3 - 4 883 c.846C>T c.(844-846)atC>atT p.I282I TUBAL3_ENST00000479328.1_Silent_p.I242I NM_024803.2 NP_079079.1 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 282 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3) 25 CAGCAGAGACGATGGGGGCGA 0.517000 50 109 0 0 1 0 0 DGKZ 8525 broad.mit.edu 37 11 46396983 46396983 + Splice_Site SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:46396983C>T ENST00000454345.1 + 21 2401 c.2274_splice c.e21-1 p.A759_splice DGKZ_ENST00000528615.1_Splice_Site_p.A349_splice|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000527911.1_Splice_Site_p.A571_splice|DGKZ_ENST00000343674.6_Splice_Site_p.A587_splice|DGKZ_ENST00000421244.2_Splice_Site_p.A571_splice|DGKZ_ENST00000318201.8_Splice_Site_p.A548_splice|DGKZ_ENST00000456247.2_Splice_Site_p.A570_splice|DGKZ_ENST00000532868.2_Splice_Site_p.A575_splice|DGKZ_ENST00000395574.3_Splice_Site_p.A537_splice NM_001105540.1 NP_001099010.1 Q13574 DGKZ_HUMAN diacylglycerol kinase, zeta 759 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) TGCCCACAGGCCGCGCTGCAG 0.667000 9 7 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71354312 71354312 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:71354312G>A ENST00000392650.3 - 40 5499 c.5499C>T c.(5497-5499)atC>atT p.I1833I SDK2_ENST00000388726.3_Silent_p.I1814I|SDK2_ENST00000410094.1_5'UTR NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1833 Fibronectin type-III 13. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 TGTACCGCACGATGATGGGCA 0.657000 90 114 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90106260 90106260 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:90106260G>A ENST00000405460.2 + 74 15279 c.15183G>A c.(15181-15183)ggG>ggA p.G5061G GPR98_ENST00000425867.2_Silent_p.G722G NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5061 Calx-beta 33. 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 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) TTCAGAATGGGGAACTGTTTT 0.353000 9 27 0 0 1 0 0 ASB18 401036 broad.mit.edu 37 2 237172889 237172889 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:237172889C>T ENST00000409749.3 - 1 99 c.100G>A c.(100-102)Gat>Aat p.D34N AC079135.1_ENST00000415226.1_RNA NM_212556.2 NP_997721.2 Q6ZVZ8 ASB18_HUMAN ankyrin repeat and SOCS box containing 18 34 intracellular signal transduction large_intestine(1)|lung(3)|ovary(1)|prostate(1) 6 all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244) CAGATTAAATCCCTCACTCTC 0.507000 27 50 0 0 1 0 0 EPHA1 2041 broad.mit.edu 37 7 143091909 143091909 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:143091909C>T ENST00000275815.3 - 14 2430 c.2344G>A c.(2344-2346)Gaa>Aaa p.E782K NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 782 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) ACCTGGGTTTCGTATGTGCCA 0.502000 20 27 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11039268 11039268 + RNA SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr21:11039268C>T ENST00000470054.1 - 0 935 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) TGCAGTTGCTCTTGCTGCACA 0.393000 34 449 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130410928 130410928 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chrX:130410928C>T ENST00000370904.1 - 20 3476 c.2566G>A c.(2566-2568)Gag>Aag p.E856K IGSF1_ENST00000361420.3_Missense_Mutation_p.E865K|IGSF1_ENST00000370903.3_Missense_Mutation_p.E870K|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370910.1_Missense_Mutation_p.E856K Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 865 Ig-like C2-type 8. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 ACCACGAGCTCCACAGGGTCG 0.532000 112 39 0 0 1 0 0 AMPD3 272 broad.mit.edu 37 11 10517195 10517195 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:10517195G>A ENST00000444303.2 + 8 1340 c.868G>A c.(868-870)Gag>Aag p.E290K AMPD3_ENST00000396554.3_Missense_Mutation_p.E458K NM_001172431.1 NP_001165902.1 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 449 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) CAGTCCTGAGGAGTGGCCCAA 0.592000 25 25 0 0 1 0 0 CHAT 1103 broad.mit.edu 37 10 50835683 50835683 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:50835683C>T ENST00000395562.2 + 8 1186 c.717C>T c.(715-717)ttC>ttT p.F239F CHAT_ENST00000339797.1_Silent_p.F203F|CHAT_ENST00000455728.2_Silent_p.F203F|CHAT_ENST00000351556.3_Silent_p.F203F|CHAT_ENST00000337653.2_Silent_p.F321F|CHAT_ENST00000395559.2_Silent_p.F203F NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 321 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) TCATTAATTTCCGCCGTCTCA 0.507000 85 126 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149515803 149515803 + RNA SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:149515803C>T ENST00000378016.2 + 0 11704 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCCCGCTCGCCCTGCATGGCG 0.687000 10 11 0 0 1 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004218 75004218 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chrX:75004218C>T ENST00000373359.2 - 1 861 c.669G>A c.(667-669)agG>agA p.R223R NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 223 MAGE 1. autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TGAGGAGGTTCCTTGTGTTCC 0.493000 51 15 0 0 1 0 0 CDCA3 83461 broad.mit.edu 37 12 6958951 6958951 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:6958951G>A ENST00000422785.3 - 4 426 c.322C>T c.(322-324)Cca>Tca p.P108S CDCA3_ENST00000540683.1_Missense_Mutation_p.P108S|CDCA3_ENST00000538862.2_Missense_Mutation_p.P108S|CDCA3_ENST00000229265.6_Intron|CDCA3_ENST00000535406.1_Missense_Mutation_p.P108S Q99618 CDCA3_HUMAN cell division cycle associated 3 108 F-box-like. cell division|mitosis cytosol breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1) 8 ACAGGCTCTGGGGGAAGATTT 0.483000 51 89 0 0 1 0 0 CELA2A 63036 broad.mit.edu 37 1 15794027 15794027 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:15794027C>T ENST00000359621.4 + 7 811 c.786C>T c.(784-786)atC>atT p.I262I CELA2B_ENST00000494280.1_3'UTR NM_033440.2 NP_254275.1 P08217 CEL2A_HUMAN chymotrypsin-like elastase family, member 2A 262 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1) 16 TCGACTGGATCAATTCGGTAA 0.612000 38 62 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9047457 9047457 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:9047457G>A ENST00000397910.4 - 5 34377 c.34174C>T c.(34174-34176)Cca>Tca p.P11392S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11394 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 GTTATTGTTGGAAAATCTGAA 0.458000 84 110 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29498006 29498006 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:29498006C>T ENST00000389048.3 - 11 2906 c.2000G>A c.(1999-2001)gGg>gAg p.G667E ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 667 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) TGAATTTTCCCCGGGTTTCAG 0.458000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 20 55 0 0 1 0 0 ZNF268 10795 broad.mit.edu 37 12 133779970 133779970 + Silent SNP T T C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:133779970T>C ENST00000536435.2 + 6 2028 c.1698T>C c.(1696-1698)agT>agC p.S566S ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000537565.1_Silent_p.S405S|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000228289.5_Silent_p.S566S|ZNF268_ENST00000542986.2_3'UTR NM_001165885.1|NM_003415.2 NP_001159357.1|NP_003406.1 Q14587 ZN268_HUMAN zinc finger protein 268 566 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1) 24 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.000215)|all_epithelial(31;0.096) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) AAGCCTTCAGTCGGAAATACC 0.433000 10 8 0 0 1 0 0 OR2F1 26211 broad.mit.edu 37 7 143657174 143657174 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:143657174G>A ENST00000392899.1 + 1 148 c.111G>A c.(109-111)gtG>gtA p.V37V NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) TGTATGTGGTGACCGTGCTGG 0.512000 133 189 0 0 1 0 0 PREX1 57580 broad.mit.edu 37 20 47244153 47244153 + Splice_Site SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr20:47244153C>T ENST00000371941.3 - 39 4892 c.4869_splice c.e39-1 p.G1624_splice PREX1_ENST00000396220.1_3'UTR NM_020820.3 NP_065871.2 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 1624 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) ACCCTTGGGCCCTGGAAGAAG 0.657000 35 45 0 0 1 0 0 CAPN1 823 broad.mit.edu 37 11 64977815 64977815 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:64977815C>T ENST00000527323.1 + 19 2191 c.1951C>T c.(1951-1953)Ctc>Ttc p.L651F CAPN1_ENST00000279247.6_Missense_Mutation_p.L651F|CAPN1_ENST00000533129.1_Missense_Mutation_p.L651F|CAPN1_ENST00000524773.1_Missense_Mutation_p.L651F|CAPN1_ENST00000533820.1_Missense_Mutation_p.L651F P07384 CAN1_HUMAN calpain 1, (mu/I) large subunit 651 Domain IV. positive regulation of cell proliferation|proteolysis cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 Lung NSC(402;0.094)|Melanoma(852;0.16) Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813) AGGCTTCAAGCTCAACAAGAA 0.617000 11 13 0 0 1 0 0 PRND 23627 broad.mit.edu 37 20 4705302 4705302 + Nonsense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr20:4705302G>A ENST00000305817.2 + 2 176 c.105G>A c.(103-105)tgG>tgA p.W35* NM_012409.2 NP_036541.2 Q9UKY0 PRND_HUMAN prion protein 2 (dublet) 35 Flexible tail. protein homooligomerization anchored to membrane|plasma membrane breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 13 GAATCAAGTGGAACCGGAAGG 0.622000 33 64 0 0 1 0 0 EIF1AY 9086 broad.mit.edu 37 Y 22737761 22737761 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chrY:22737761C>T ENST00000361365.2 + 1 151 c.4C>T c.(4-6)Ccc>Tcc p.P2S EIF1AY_ENST00000382772.3_Missense_Mutation_p.P2S NM_004681.3 NP_004672.2 O14602 IF1AY_HUMAN eukaryotic translation initiation factor 1A, Y-linked 2 cytoplasm protein binding|translation initiation factor activity CACCGCCATGCCCAAGAATAA 0.557000 10 1 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84533293 84533293 + RNA SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:84533293C>T ENST00000527857.1 + 0 3315 NR_026851.1 ACTTTTCTGCCCCCCACATAC 0.502000 6 13 0 0 1 0 0 OR8B12 219858 broad.mit.edu 37 11 124413011 124413011 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:124413011G>A ENST00000306842.2 - 1 564 c.540C>T c.(538-540)atC>atT p.I180I NM_001005195.1 NP_001005195.1 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, member 12 180 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) GGAGAGGAAGGATGTCACACA 0.498000 31 40 0 0 1 0 0 CSNK2A1 1457 broad.mit.edu 37 20 472937 472937 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr20:472937G>A ENST00000217244.3 - 9 957 c.582C>T c.(580-582)tcC>tcT p.S194S CSNK2A1_ENST00000400217.1_Silent_p.S58S|CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000349736.5_Silent_p.S194S|CSNK2A1_ENST00000400227.3_Silent_p.S194S NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide 194 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) TGAAGTATCGGGAAGCAACTC 0.408000 13 35 0 0 1 0 0 PRAME 23532 broad.mit.edu 37 22 22890729 22890729 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr22:22890729G>A ENST00000543184.1 - 5 2152 c.1290C>T c.(1288-1290)ctC>ctT p.L430L PRAME_ENST00000398743.2_Silent_p.L430L|PRAME_ENST00000539862.1_Silent_p.L414L|PRAME_ENST00000402697.1_Silent_p.L430L|PRAME_ENST00000424204.2_Silent_p.L414L|PRAME_ENST00000398741.1_Silent_p.L430L|PRAME_ENST00000405655.3_Silent_p.L430L NM_206953.1 NP_996836.1 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 430 Mediates interaction with RARA. apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) TCAGCCCGATGAGGTGCTGCA 0.562000 58 90 0 0 1 0 0 NAP1L3 4675 broad.mit.edu 37 X 92926918 92926918 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chrX:92926918C>T ENST00000373079.3 - 1 1649 c.1386G>A c.(1384-1386)ctG>ctA p.L462L NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 462 nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 AGTCCTCATCCAGGATAGCAT 0.398000 28 6 0 0 1 0 0 PCDHA11 56138 broad.mit.edu 37 5 140249988 140249988 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:140249988C>T ENST00000398640.2 + 1 1300 c.1300C>T c.(1300-1302)Ctg>Ttg p.L434L PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCGCCTTCTCTGTGGGCCAC 0.612000 130 182 0 0 1 0 0 ATP2B4 493 broad.mit.edu 37 1 203708702 203708702 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:203708702C>T ENST00000357681.5 + 21 4461 c.3338C>T c.(3337-3339)tCc>tTc p.S1113F ATP2B4_ENST00000341360.2_3'UTR|ATP2B4_ENST00000367219.3_3'UTR|ATP2B4_ENST00000367218.3_3'UTR|ATP2B4_ENST00000391954.2_3'UTR NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 1149 Calmodulin-binding subdomain B (By similarity). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) TTCCATAGTTCCCTCCACGAA 0.488000 89 81 0 0 1 0 0 FAM83C 128876 broad.mit.edu 37 20 33875198 33875198 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr20:33875198G>A ENST00000374408.3 - 4 1480 c.1384C>T c.(1384-1386)Ctg>Ttg p.L462L NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 462 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) AACCGGGACAGAGCTGGGGCA 0.632000 25 47 0 0 1 0 0 ANAPC2 29882 broad.mit.edu 37 9 140082507 140082507 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:140082507G>A ENST00000323927.2 - 2 170 c.166C>T c.(166-168)Cgg>Tgg p.R56W NM_013366.3 NP_037498.1 Q9UJX6 ANC2_HUMAN anaphase promoting complex subunit 2 56 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) ACCGCCGCCCGGAGCTCCTCT 0.642000 12 26 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201061109 201061109 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:201061109C>T ENST00000362061.3 - 4 758 c.532G>A c.(532-534)Ggg>Agg p.G178R CACNA1S_ENST00000367338.3_Missense_Mutation_p.G178R NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 178 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CTAGGCACCCCCGACACCAGC 0.612000 43 38 0 0 1 0 0 XPO5 57510 broad.mit.edu 37 6 43514469 43514469 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:43514469G>A ENST00000265351.7 - 20 2391 c.2181C>T c.(2179-2181)agC>agT p.S727S NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 727 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) CACCCAGAATGCTGTATACAC 0.373000 11 6 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36221442 36221442 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:36221442C>T ENST00000222270.7 + 25 5201 c.5201C>T c.(5200-5202)tCc>tTc p.S1734F WBP7_ENST00000420124.1_Missense_Mutation_p.S1734F|KMT2B_ENST00000607650.1_RNA NM_014727.1 NP_055542.1 ACCACAGGTTCCATCCGCATT 0.607000 175 306 0 0 1 0 0 AQP11 282679 broad.mit.edu 37 11 77301058 77301058 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:77301058C>T ENST00000313578.3 + 1 379 c.21C>T c.(19-21)ctC>ctT p.L7L AQP11_ENST00000528638.1_Intron NM_173039.2 NP_766627.1 Q8NBQ7 AQP11_HUMAN aquaporin 11 7 cell surface|integral to membrane transporter activity kidney(2)|large_intestine(1)|lung(5) 8 all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249) Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30) TGCTGGGGCTCCGGTCCGAGC 0.711000 11 21 0 0 1 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130275729 130275729 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:130275729G>A ENST00000257359.6 - 9 3100 c.2394C>T c.(2392-2394)ttC>ttT p.F798F NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 798 Spacer. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) CTTTTGGGGGGAAGACCTCGC 0.572000 113 217 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28723643 28723643 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr18:28723643G>A ENST00000257197.3 - 8 1312 c.1051C>T c.(1051-1053)Cca>Tca p.P351S DSC1_ENST00000257198.5_Missense_Mutation_p.P351S|RP11-408H20.2_ENST00000581836.1_RNA NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 351 Cadherin 2. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) AAAGATGGTGGATTGTCATTT 0.348000 23 41 0 0 1 0 0 ERCC6 2074 broad.mit.edu 37 10 50678350 50678350 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:50678350C>T ENST00000355832.5 - 18 3734 c.3656G>A c.(3655-3657)gGa>gAa p.G1219E ERCC6_ENST00000542458.1_Missense_Mutation_p.G589E|RP11-123B3.2_ENST00000423283.1_RNA NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 1219 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 AATTCGAGTTCCTTCAAACTT 0.443000 Direct reversal of damage;Nucleotide excision repair (NER) 152 289 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19856851 19856851 + RNA SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:19856851C>T ENST00000548109.1 + 0 72 GCTCTCATGTCATCTACAGCA 0.333000 4 66 0 0 1 0 0 FAM160B2 64760 broad.mit.edu 37 8 21959748 21959748 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:21959748C>T ENST00000289921.7 + 15 1960 c.1914C>T c.(1912-1914)ccC>ccT p.P638P NM_022749.5 NP_073586.5 Q86V87 F16B2_HUMAN family with sequence similarity 160, member B2 638 endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1) 9 TCCCCCACCCCCATATTCATG 0.632000 29 54 0 0 1 0 0 CCNL1 57018 broad.mit.edu 37 3 156868171 156868171 + Splice_Site SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:156868171C>T ENST00000295926.3 - 6 793 c.e6-1 CCNL1_ENST00000461804.1_Splice_Site|CCNL1_ENST00000479052.1_Splice_Site NM_020307.2 NP_064703.1 Q9UK58 CCNL1_HUMAN cyclin L1 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1) 18 LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308) CATGTAATTCCTGAAAAATAT 0.358000 11 26 0 0 1 0 0 SCN8A 6334 broad.mit.edu 37 12 52200426 52200426 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:52200426C>T ENST00000354534.5 + 27 5334 c.5156C>T c.(5155-5157)cCt>cTt p.P1719L SCN8A_ENST00000545061.1_Missense_Mutation_p.P1678L NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1719 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) AACCGCCCCCCTGACTGCAGC 0.507000 27 52 0 0 1 0 0 IGHG4 3503 broad.mit.edu 37 14 106091309 106091309 + RNA SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:106091309G>A ENST00000390543.2 - 0 584 ACTCCTTGCCGTTCAGCCAGT 0.592000 5 560 0 0 1 0 0 ZNF813 126017 broad.mit.edu 37 19 53993701 53993701 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:53993701G>A ENST00000396403.4 + 4 343 c.215G>A c.(214-216)gGg>gAg p.G72E ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 72 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) ATCCACACAGGGACATTGCAA 0.373000 50 97 0 0 1 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48598577 48598577 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:48598577C>T ENST00000323776.5 + 8 1314 c.1152C>T c.(1150-1152)ttC>ttT p.F384F MYCBPAP_ENST00000436259.2_Silent_p.F347F NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 347 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) AGCTGGATTTCAGCCAGCAGG 0.562000 6 14 0 0 1 0 0 PGLS 25796 broad.mit.edu 37 19 17628118 17628118 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:17628118C>T ENST00000252603.2 + 3 462 c.418C>T c.(418-420)Ccg>Tcg p.P140S NM_012088.2 NP_036220.1 O95336 6PGL_HUMAN 6-phosphogluconolactonase 140 cytosol 6-phosphogluconolactonase activity endometrium(1)|lung(1) 2 GGACTCCATCCCGGTTTTCGA 0.617000 102 215 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151165356 151165356 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:151165356C>T ENST00000282466.3 - 4 2412 c.2413G>A c.(2413-2415)Gaa>Aaa p.E805K NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 805 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ACCATAAATTCCTCATGTAGA 0.478000 51 75 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138378223 138378223 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:138378223G>A ENST00000409968.1 + 20 3904 c.3726G>A c.(3724-3726)gtG>gtA p.V1242V THSD7B_ENST00000272643.3_Silent_p.V1245V|THSD7B_ENST00000413152.2_Silent_p.V1214V|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CCTGCTTGGTGGAATGCGTGG 0.463000 49 94 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117768301 117768301 + Missense_Mutation SNP T T C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:117768301T>C ENST00000317775.6 - 2 1259 c.574A>G c.(574-576)Acc>Gcc p.T192A NOS1_ENST00000344089.3_Missense_Mutation_p.T192A|NOS1_ENST00000338101.4_Missense_Mutation_p.T192A NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 192 Interaction with NOSIP (By similarity).|PIN (nNOS-inhibiting protein) binding. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CTGACTCTGGTTGCTTTCTTC 0.632000 85 124 0 0 1 0 0 FGFBP2 83888 broad.mit.edu 37 4 15964132 15964132 + Nonsense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:15964132C>T ENST00000259989.6 - 1 727 c.621G>A c.(619-621)tgG>tgA p.W207* FGFBP2_ENST00000509331.1_Intron NM_031950.3 NP_114156.1 Q9BYJ0 FGFP2_HUMAN fibroblast growth factor binding protein 2 207 extracellular space growth factor binding central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 9 GGAAGGGTTTCCAACAATGTT 0.547000 42 59 0 0 1 0 0 TNIP3 79931 broad.mit.edu 37 4 122078270 122078270 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:122078270C>T ENST00000454328.1 - 6 569 c.342G>A c.(340-342)cgG>cgA p.R114R TNIP3_ENST00000057513.3_Silent_p.R114R|TNIP3_ENST00000507879.1_Silent_p.R184R|TNIP3_ENST00000509841.1_Silent_p.R191R Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 114 NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2) 24 GCAGCCGGTCCCGGGTCAGGT 0.637000 153 268 0 0 1 0 0 MMP11 4320 broad.mit.edu 37 22 24121399 24121399 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr22:24121399G>A ENST00000215743.3 + 2 186 c.134G>A c.(133-135)aGg>aAg p.R45K MMP11_ENST00000477567.1_3'UTR NM_005940.3 NP_005931.2 P24347 MMP11_HUMAN matrix metallopeptidase 11 (stromelysin 3) 45 collagen catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 27 Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318) CATGCCGAGAGGAGGGGGCCA 0.682000 8 12 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73480454 73480454 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:73480454G>A ENST00000523207.1 + 2 1073 c.485G>A c.(484-486)cGa>cAa p.R162Q NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 162 ER -> DG (in Ref. 1; AAP46292). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding p.R162Q(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) ATGCGAGAGCGAGAAGGAGAA 0.458000 53 146 0 0 1 0 0 KLHL6 89857 broad.mit.edu 37 3 183217534 183217534 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:183217534C>T ENST00000341319.3 - 4 1026 c.991G>A c.(991-993)Gaa>Aaa p.E331K NM_130446.2 NP_569713.2 Q8WZ60 KLHL6_HUMAN kelch-like family member 6 331 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) ACAAACCGTTCATCCTTCGTG 0.577000 85 50 0 0 1 0 0 CALCR 799 broad.mit.edu 37 7 93065372 93065372 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:93065372G>A ENST00000359558.2 - 14 1442 c.1143C>T c.(1141-1143)atC>atT p.I381I CALCR_ENST00000421592.1_Silent_p.I363I|CALCR_ENST00000360249.4_Silent_p.I363I|CALCR_ENST00000394441.1_Silent_p.I347I|CALCR_ENST00000426151.1_Silent_p.I347I NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 363 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) GGGGCACAAGGATCATGGTGG 0.493000 22 47 0 0 1 0 0 FNDC7 163479 broad.mit.edu 37 1 109270446 109270446 + Silent SNP T T C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:109270446T>C ENST00000370017.3 + 7 1405 c.1128T>C c.(1126-1128)agT>agC p.S376S FNDC7_ENST00000271311.2_Silent_p.S377S NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 377 Fibronectin type-III 5. extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) GTTGTCCTAGTGACATTAACC 0.542000 86 126 0 0 1 0 0 GSG2 83903 broad.mit.edu 37 17 3628194 3628194 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:3628194G>A ENST00000325418.4 + 1 984 c.965G>A c.(964-966)cGc>cAc p.R322H ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron NM_031965.2 NP_114171.2 Q8TF76 HASP_HUMAN germ cell associated 2 (haspin) 322 cell cycle|chromatin modification|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity p.R322H(1) CCCAAGGGCCGCATTGTGCCA 0.582000 4 86 0 0 1 0 0 SNRNP27 11017 broad.mit.edu 37 2 70122296 70122296 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:70122296G>A ENST00000244227.3 + 2 530 c.105G>A c.(103-105)gaG>gaA p.E35E SNRNP27_ENST00000409116.1_Silent_p.E35E NM_006857.2 NP_006848.1 Q8WVK2 SNR27_HUMAN small nuclear ribonucleoprotein 27kDa (U4/U6.U5) 35 Arg-rich. mRNA processing|RNA splicing nucleus nucleic acid binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 11 GGTCTCGGGAGAGAGATCGGA 0.552000 60 99 0 0 1 0 0 SPATA31D3 389762 broad.mit.edu 37 9 84564872 84564872 + RNA SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:84564872G>A ENST00000585776.1 - 0 942 SPATA31D3_ENST00000334208.4_RNA AAAACACTGTGTTCAGTGATG 0.468000 3 3 0 0 1 0 0 PIWIL3 440822 broad.mit.edu 37 22 25121453 25121453 + Missense_Mutation SNP G G C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr22:25121453G>C ENST00000332271.5 - 17 2482 c.2066C>G c.(2065-2067)aCa>aGa p.T689R PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.T571R|PIWIL3_ENST00000527701.1_Missense_Mutation_p.T571R NM_001008496.3|NM_001255975.1 NP_001008496.2|NP_001242904.1 Q7Z3Z3 PIWL3_HUMAN piwi-like RNA-mediated gene silencing 3 689 Piwi. cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 CTCTTCTCCTGTTTTCTGGAT 0.428000 42 77 0 0 1 0 0 COMT 1312 broad.mit.edu 37 22 19956206 19956206 + Missense_Mutation SNP G G T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr22:19956206G>T ENST00000361682.6 + 6 1145 c.763G>T c.(763-765)Gac>Tac p.D255Y COMT_ENST00000449653.1_Missense_Mutation_p.D205Y|COMT_ENST00000407537.1_Missense_Mutation_p.D205Y|COMT_ENST00000403710.1_Missense_Mutation_p.D255Y|COMT_ENST00000406520.3_Missense_Mutation_p.D255Y NM_000754.3 NP_000745.1 P21964 COMT_HUMAN catechol-O-methyltransferase 255 neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction catechol O-methyltransferase activity|magnesium ion binding|protein binding kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1) 5 Colorectal(54;0.0993) Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323) GGAGGTGGTGGACGGCCTGGA 0.647000 25 41 3.73148e-12 3.76722e-12 1 1 0 ENDOD1 23052 broad.mit.edu 37 11 94862016 94862016 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:94862016C>T ENST00000278505.4 + 2 894 c.776C>T c.(775-777)cCa>cTa p.P259L NM_015036.2 NP_055851.1 O94919 ENDD1_HUMAN endonuclease domain containing 1 259 extracellular region endonuclease activity|metal ion binding|nucleic acid binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824) AAACTGCTTCCATTTAACCCT 0.458000 34 43 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89923388 89923388 + Nonsense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:89923388C>T ENST00000405460.2 + 7 1129 c.1033C>T c.(1033-1035)Caa>Taa p.Q345* NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 345 Calx-beta 3. 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 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) CTTGAAATTTCAAATAGTTGA 0.388000 77 146 0 0 1 0 0 WHSC1 7468 broad.mit.edu 37 4 1902632 1902632 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:1902632C>T ENST00000503128.1 + 2 458 c.251C>T c.(250-252)tCc>tTc p.S84F WHSC1_ENST00000514045.1_Missense_Mutation_p.S84F|WHSC1_ENST00000508803.1_Missense_Mutation_p.S84F|WHSC1_ENST00000436793.1_Missense_Mutation_p.S84F|WHSC1_ENST00000382895.3_Missense_Mutation_p.S84F|WHSC1_ENST00000382892.2_Missense_Mutation_p.S84F|WHSC1_ENST00000382891.5_Missense_Mutation_p.S84F|WHSC1_ENST00000420906.2_Missense_Mutation_p.S84F|WHSC1_ENST00000398261.1_Missense_Mutation_p.S84F O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 84 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) GATCTTACTTCCCGGGTGTTT 0.552000 T IGH@ MM 48 61 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 120998805 120998805 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:120998805C>T ENST00000392793.1 + 9 2390 c.2119C>T c.(2119-2121)Ccc>Tcc p.P707S TECTA_ENST00000264037.2_Missense_Mutation_p.P707S O75443 TECTA_HUMAN tectorin alpha 707 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GGGCTGCTTCCCCAAGCGGGA 0.657000 42 76 0 0 1 0 0 AGTR1 185 broad.mit.edu 37 3 148459740 148459740 + Silent SNP G G A rs1064535 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:148459740G>A ENST00000542281.1 + 4 1364 c.918G>A c.(916-918)ggG>ggA p.G306G AGTR1_ENST00000497524.1_Silent_p.G306G|AGTR1_ENST00000474935.1_Silent_p.G306G|AGTR1_ENST00000475347.1_Silent_p.G306G|AGTR1_ENST00000418473.2_Silent_p.G306G|AGTR1_ENST00000404754.2_Silent_p.G306G|AGTR1_ENST00000402260.1_Silent_p.G306G|AGTR1_ENST00000461609.1_Silent_p.G306G|AGTR1_ENST00000349243.3_Silent_p.G306G NM_031850.3 NP_114038.4 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 306 calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) GCTTTCTGGGGAAAAAATTTA 0.368000 26 54 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44921440 44921440 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr15:44921440G>A ENST00000261866.7 - 9 1898 c.1882C>T c.(1882-1884)Cac>Tac p.H628Y SPG11_ENST00000427534.2_Missense_Mutation_p.H628Y|SPG11_ENST00000559193.1_Missense_Mutation_p.H628Y|SPG11_ENST00000535302.2_Missense_Mutation_p.H628Y|SPG11_ENST00000558319.1_Missense_Mutation_p.H628Y NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 628 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CCTTCAGTGTGAATGAAAAGC 0.398000 40 81 0 0 1 0 0 OR6C65 403282 broad.mit.edu 37 12 55794837 55794837 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:55794837C>T ENST00000379665.2 + 1 624 c.525C>T c.(523-525)ttC>ttT p.F175F NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 TTGACCATTTCATCTGTGATT 0.438000 126 201 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29056048 29056048 + Missense_Mutation SNP C C T rs141527621 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr18:29056048C>T ENST00000257189.4 + 16 2908 c.2825C>T c.(2824-2826)tCc>tTc p.S942F NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 942 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding p.S942F(1) breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GCTTCTGGTTCCCTCGTGCAA 0.507000 68 100 0 0 1 0 0 IFRD1 3475 broad.mit.edu 37 7 112112351 112112351 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:112112351C>T ENST00000403825.3 + 10 1380 c.1119C>T c.(1117-1119)acC>acT p.T373T IFRD1_ENST00000535603.1_Silent_p.T323T|IFRD1_ENST00000005558.4_Silent_p.T373T NM_001550.3 NP_001541.2 O00458 IFRD1_HUMAN interferon-related developmental regulator 1 373 multicellular organismal development|myoblast cell fate determination binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1) 15 AAAAACACACCTATGACACCT 0.398000 45 89 0 0 1 0 0 OR6F1 343169 broad.mit.edu 37 1 247875138 247875138 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:247875138C>T ENST00000302084.2 - 1 967 c.920G>A c.(919-921)gGa>gAa p.G307E RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GATTTATTTTCCCTTCCATTT 0.423000 110 73 0 0 1 0 0 TRBV5-5 28610 broad.mit.edu 37 7 142149136 142149136 + RNA SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:142149136G>A ENST00000390372.3 - 0 141 TGTGCCCAGAGATAGGAGAGC 0.517000 51 74 0 0 1 0 0 CYP24A1 1591 broad.mit.edu 37 20 52789588 52789588 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr20:52789588G>A ENST00000216862.3 - 2 702 c.309C>T c.(307-309)tcC>tcT p.S103S CYP24A1_ENST00000395955.3_Silent_p.S103S NM_000782.4 NP_000773.2 Q07973 CP24A_HUMAN cytochrome P450, family 24, subfamily A, polypeptide 1 103 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) CCGACTCAAAGGAACCCAACT 0.637000 47 69 0 0 1 0 0 COX18 285521 broad.mit.edu 37 4 73923904 73923904 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:73923904G>A ENST00000295890.4 - 6 1020 c.929C>T c.(928-930)aCc>aTc p.T310I COX18_ENST00000507544.2_Missense_Mutation_p.T311I NM_173827.2 NP_776188.1 Q8N8Q8 COX18_HUMAN COX18 cytochrome C oxidase assembly factor 310 protein insertion into mitochondrial membrane|respiratory chain complex IV assembly integral to mitochondrial inner membrane protein transporter activity large_intestine(4)|lung(2) 6 Breast(15;0.00096) Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ATCTGACTTGGTCGATGGTAT 0.388000 51 108 0 0 1 0 0 MYBPHL 343263 broad.mit.edu 37 1 109849469 109849469 + Splice_Site SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:109849469C>T ENST00000357155.1 - 1 194 c.145_splice c.e1+1 p.E49_splice MYBPHL_ENST00000477962.1_5'UTR NM_001010985.2|NM_001265613.1 NP_001010985.2|NP_001252542.1 A2RUH7 MBPHL_HUMAN myosin binding protein H-like 49 Ig-like C2-type 1. central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2) 14 all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822) Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225) CATGGGTCACCTTCTATAGGG 0.647000 11 31 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49764870 49764870 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr16:49764870C>T ENST00000561648.1 - 3 142 c.89G>A c.(88-90)gGa>gAa p.G30E ZNF423_ENST00000562871.1_5'UTR|ZNF423_ENST00000562520.1_5'UTR|ZNF423_ENST00000262383.2_Missense_Mutation_p.G30E|ZNF423_ENST00000563137.2_5'UTR NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 30 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) CTCTGGCTCTCCTTCTAGGCC 0.488000 84 131 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3242264 3242264 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chrX:3242264C>T ENST00000217939.6 - 5 1616 c.1462G>A c.(1462-1464)Gat>Aat p.D488N NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 488 Ig-like C2-type 1. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) ACAGTCTGATCTCTTTGCACA 0.507000 107 33 0 0 1 0 0 CEP290 80184 broad.mit.edu 37 12 88478526 88478526 + Missense_Mutation SNP T T A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:88478526T>A ENST00000552810.1 - 35 4884 c.4541A>T c.(4540-4542)gAa>gTa p.E1514V CEP290_ENST00000309041.7_Missense_Mutation_p.E1516V|CEP290_ENST00000397838.3_Missense_Mutation_p.E574V|CEP290_ENST00000547691.2_Missense_Mutation_p.E574V NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 1514 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 CTTTTCTCTTTCTGCAGTGGC 0.393000 46 56 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55826535 55826535 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:55826535G>A ENST00000373965.2 - 19 2617 c.2223C>T c.(2221-2223)gcC>gcT p.A741A PCDH15_ENST00000373957.3_Silent_p.A712A|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Silent_p.A734A|PCDH15_ENST00000437009.1_Silent_p.A663A|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Silent_p.A739A|PCDH15_ENST00000395438.1_Silent_p.A734A|PCDH15_ENST00000320301.6_Silent_p.A734A|PCDH15_ENST00000373955.1_Silent_p.A734A|PCDH15_ENST00000395432.2_Silent_p.A697A|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Silent_p.A734A|PCDH15_ENST00000409834.1_Silent_p.A345A|PCDH15_ENST00000395445.1_Silent_p.A741A|PCDH15_ENST00000395433.1_Silent_p.A712A NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 734 Cadherin 7. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GACCCACAAAGGCATTGGCTT 0.333000 HNSCC(58;0.16) 25 59 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79324609 79324609 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr15:79324609G>A ENST00000419573.3 - 7 1282 c.1008C>T c.(1006-1008)ttC>ttT p.F336F RASGRF1_ENST00000558480.2_Silent_p.F336F|RASGRF1_ENST00000560334.1_5'UTR NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 336 DH. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GGTTGCGGACGAACTCTTGGT 0.587000 23 29 0 0 1 0 0 NCR3 259197 broad.mit.edu 37 6 31557874 31557874 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:31557874G>A ENST00000376073.4 - 2 336 c.73C>T c.(73-75)Cct>Tct p.P25S NCR3_ENST00000376071.4_Missense_Mutation_p.P25S|NCR3_ENST00000376072.3_Missense_Mutation_p.P25S|NCR3_ENST00000340027.5_Missense_Mutation_p.P25S|NCR3_ENST00000491161.1_5'UTR NM_001145466.1 NP_001138938.1 O14931 NCTR3_HUMAN natural cytotoxicity triggering receptor 3 25 Ig-like. cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity integral to plasma membrane receptor activity cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2) 9 CGAATCTCAGGGGGCTGGGAC 0.572000 27 23 0 0 1 0 0 UNC13D 201294 broad.mit.edu 37 17 73836020 73836020 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:73836020C>T ENST00000207549.4 - 12 1334 c.955G>A c.(955-957)Gga>Aga p.G319R UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Missense_Mutation_p.G319R NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 319 Interaction with RAB27A. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) GAGGTGCTTCCCGCCTGAGGG 0.667000 Familial Hemophagocytic Lymphohistiocytosis 32 47 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196438154 196438154 + Silent SNP T T C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:196438154T>C ENST00000367433.5 - 6 530 c.429A>G c.(427-429)gaA>gaG p.E143E KCNT2_ENST00000294725.8_Silent_p.E143E|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000367431.4_Silent_p.E143E Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 143 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 CATTAATTATTTCCAAGATGA 0.303000 17 17 0 0 1 0 0 SAMD7 344658 broad.mit.edu 37 3 169642892 169642892 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:169642892G>A ENST00000428432.2 + 5 647 c.258G>A c.(256-258)agG>agA p.R86R SAMD7_ENST00000335556.3_Silent_p.R86R NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 86 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) TGGCCAGAAGGAATGAAATGA 0.358000 18 42 0 0 1 0 0 FGD6 55785 broad.mit.edu 37 12 95604014 95604014 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:95604014G>A ENST00000343958.4 - 2 1269 c.1046C>T c.(1045-1047)tCc>tTc p.S349F FGD6_ENST00000546711.1_Missense_Mutation_p.S349F|FGD6_ENST00000549499.1_Missense_Mutation_p.S349F NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 349 Poly-Ser. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 AGTAAGACAGGAAGAGCTACT 0.403000 54 97 0 0 1 0 0 ZNF404 342908 broad.mit.edu 37 19 44377703 44377703 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:44377703C>T ENST00000587539.1 - 3 662 c.663G>A c.(661-663)ggG>ggA p.G221G ZNF404_ENST00000324394.6_Silent_p.G219G NM_001033719.2 NP_001028891.2 Q494X3 ZN404_HUMAN zinc finger protein 404 221 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1) 17 Prostate(69;0.0352) TAAAAGCCTTCCCGCATTGCT 0.378000 68 89 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 121980431 121980431 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:121980431C>T ENST00000498619.1 + 4 987 c.549C>T c.(547-549)ttC>ttT p.F183F CASR_ENST00000490131.1_Silent_p.F183F|CASR_ENST00000296154.5_Silent_p.F183F NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 183 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TCAAGTCTTTCCTCCGAACCA 0.512000 89 145 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82372829 82372829 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:82372829G>A ENST00000370728.1 + 6 846 c.201G>A c.(199-201)acG>acA p.T67T LPHN2_ENST00000319517.6_Silent_p.T67T|LPHN2_ENST00000370723.1_Silent_p.T67T|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370721.1_Silent_p.T67T|LPHN2_ENST00000370730.1_Silent_p.T67T|LPHN2_ENST00000370717.2_Silent_p.T67T|LPHN2_ENST00000370725.1_Silent_p.T67T|LPHN2_ENST00000370727.1_Silent_p.T67T|LPHN2_ENST00000370715.1_Silent_p.T67T|LPHN2_ENST00000359929.3_Silent_p.T67T|LPHN2_ENST00000394879.1_Silent_p.T67T|LPHN2_ENST00000335786.5_Silent_p.T67T|LPHN2_ENST00000370713.1_Silent_p.T67T|LPHN2_ENST00000271029.4_Silent_p.T67T O95490 LPHN2_HUMAN latrophilin 2 67 SUEL-type lectin. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) ATGGTCGGACGGATGACAAGA 0.453000 55 90 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60687680 60687680 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:60687680C>T ENST00000335712.6 - 4 2594 c.2367G>A c.(2365-2367)atG>atA p.M789I BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.M755I|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000356842.4_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.M755I|BCL11A_ENST00000359629.5_Intron NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 789 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CATGCGTTTTCATGTGCCTGG 0.488000 T IGH@ B-CLL 50 99 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57548144 57548144 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:57548144C>T ENST00000243077.3 + 7 1461 c.995C>T c.(994-996)cCt>cTt p.P332L LRP1_ENST00000554174.1_Missense_Mutation_p.P332L NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 332 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GCCCTGGACCCTGCCATGGGG 0.557000 18 44 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24813339 24813339 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:24813339C>T ENST00000376451.2 + 8 1853 c.1593C>T c.(1591-1593)gtC>gtT p.V531V KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376454.3_Silent_p.V848V|KIAA1217_ENST00000376462.1_Silent_p.V768V|KIAA1217_ENST00000458595.1_Silent_p.V813V|KIAA1217_ENST00000396446.1_Silent_p.V531V|KIAA1217_ENST00000307544.6_Silent_p.V531V|KIAA1217_ENST00000396445.1_Silent_p.V531V|KIAA1217_ENST00000376452.3_Silent_p.V813V Q5T5P2 SKT_HUMAN KIAA1217 848 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CCGCAGAAGTCCTGAAGAGTC 0.607000 40 65 0 0 1 0 0 C1orf87 127795 broad.mit.edu 37 1 60521106 60521106 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:60521106C>T ENST00000371201.3 - 3 219 c.112G>A c.(112-114)Gag>Aag p.E38K C1orf87_ENST00000450089.2_Missense_Mutation_p.E38K NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 38 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 CTGTCATTCTCCTTGCTGTGA 0.423000 51 68 0 0 1 0 0 USP13 8975 broad.mit.edu 37 3 179478950 179478950 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:179478950C>T ENST00000263966.3 + 17 2470 c.1999C>T c.(1999-2001)Ccg>Tcg p.P667S USP13_ENST00000496897.1_Missense_Mutation_p.P602S NM_003940.2 NP_003931.2 Q92995 UBP13_HUMAN ubiquitin specific peptidase 13 (isopeptidase T-3) 667 UBA 1. ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 46 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) GATGGGTTTCCCGCTGGAAGC 0.512000 56 88 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12120836 12120836 + Nonsense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:12120836C>T ENST00000379388.2 + 4 1140 c.808C>T c.(808-810)Cag>Tag p.Q270* NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 270 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) GTCTGCTGCTCAGAAGAATGA 0.428000 171 102 0 0 1 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140784075 140784075 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:140784075C>T ENST00000573521.1 + 1 1556 c.1556C>T c.(1555-1557)tCc>tTc p.S519F PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTCTGTGCTCCTTTGACTAT 0.463000 27 42 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29911150 29911150 + Missense_Mutation SNP T T C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:29911150T>C ENST00000396634.1 + 5 790 c.449T>C c.(448-450)cTg>cCg p.L150P HLA-A_ENST00000376806.5_Missense_Mutation_p.L150P|HLA-A_ENST00000376802.2_Missense_Mutation_p.L150P|HLA-A_ENST00000376809.5_Missense_Mutation_p.L150P P30443 1A01_HUMAN major histocompatibility complex, class I, A 150 Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TACATCGCCCTGAACGAGGAC 0.647000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 16 8 0 0 1 0 0 CYP2C9 1559 broad.mit.edu 37 10 96748641 96748641 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:96748641G>A ENST00000260682.6 + 9 1341 c.1329G>A c.(1327-1329)atG>atA p.M443I NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 443 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) TGGCCGGCATGGAGCTGTTTT 0.448000 76 132 0 0 1 0 0 DENND2A 27147 broad.mit.edu 37 7 140221789 140221789 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:140221789C>T ENST00000275884.6 - 17 3194 c.2777G>A c.(2776-2778)aGa>aAa p.R926K DENND2A_ENST00000496613.1_Missense_Mutation_p.R926K|DENND2A_ENST00000537639.1_Missense_Mutation_p.R926K Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 926 dDENN. breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) CTGCAGGGTTCTCTCCTCACG 0.577000 25 47 0 0 1 0 0 LILRB4 11006 broad.mit.edu 37 19 55175832 55175832 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:55175832C>T ENST00000391736.1 + 6 866 c.551C>T c.(550-552)cCt>cTt p.P184L LILRB4_ENST00000391733.3_Missense_Mutation_p.P184L|LILRB4_ENST00000391734.3_Missense_Mutation_p.P184L|LILRB4_ENST00000270452.2_Missense_Mutation_p.P184L|LILRB4_ENST00000430952.2_Missense_Mutation_p.P184L 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 4 184 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) CCCATGAGTCCTGTGACCTCA 0.592000 57 92 0 0 1 0 0 OR2B6 26212 broad.mit.edu 37 6 27925140 27925140 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:27925140G>A ENST00000244623.1 + 1 122 c.122G>A c.(121-123)gGc>gAc p.G41D NM_012367.1 NP_036499.1 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, member 6 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ACCATCTTTGGCAATCTGACC 0.428000 52 151 0 0 1 0 0 PCMTD2 55251 broad.mit.edu 37 20 62904828 62904828 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr20:62904828G>A ENST00000308824.6 + 6 1088 c.961G>A c.(961-963)Gaa>Aaa p.E321K PCMTD2_ENST00000369758.3_Missense_Mutation_p.E294K|PCMTD2_ENST00000266078.6_Missense_Mutation_p.E97K|PCMTD2_ENST00000299468.7_Intron NM_018257.2 NP_060727.2 Q9NV79 PCMD2_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 321 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1) 17 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) ACGGAGGGAAGAAGAAGAGAA 0.517000 62 105 0 0 1 0 0 GFRAL 389400 broad.mit.edu 37 6 55216371 55216371 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:55216371G>A ENST00000340465.2 + 5 777 c.691G>A c.(691-693)Gaa>Aaa p.E231K NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 231 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CCAAAATGATGAATTATGCAG 0.418000 30 15 0 0 1 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529119 5529119 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:5529119C>T ENST00000311659.4 - 2 1817 c.1670G>A c.(1669-1671)gGa>gAa p.G557E HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 557 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCTATACCTCCTGCCACACT 0.562000 34 51 0 0 1 0 0 POP1 10940 broad.mit.edu 37 8 99142284 99142284 + Missense_Mutation SNP A A G TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:99142284A>G ENST00000401707.2 + 5 646 c.565A>G c.(565-567)Acg>Gcg p.T189A POP1_ENST00000349693.3_Missense_Mutation_p.T189A NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 189 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) CATGAACCGGACGCTAGAATT 0.423000 63 71 0 0 1 0 0 OR2L8 391190 broad.mit.edu 37 1 248112934 248112934 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:248112934C>T ENST00000357191.3 + 1 775 c.775C>T c.(775-777)Cta>Tta p.L259L OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CTACACTTATCTACGTCCAAG 0.483000 76 155 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84533292 84533292 + RNA SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:84533292C>T ENST00000527857.1 + 0 3314 NR_026851.1 GACTTTTCTGCCCCCCACATA 0.502000 6 13 0 0 1 0 0 KCNK16 83795 broad.mit.edu 37 6 39284091 39284091 + Missense_Mutation SNP C C A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:39284091C>A ENST00000373229.5 - 5 802 c.789G>T c.(787-789)caG>caT p.Q263H KCNK16_ENST00000425054.2_Intron|KCNK16_ENST00000437525.2_Missense_Mutation_p.Q263H|KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000373227.4_Intron NM_032115.3 NP_115491.1 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 263 integral to membrane potassium channel activity|voltage-gated ion channel activity large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2) 13 GCAGCCAGAGCTGGCAGCATC 0.662000 6 5 0.000274275 0.000275582 1 1 0 OR6F1 343169 broad.mit.edu 37 1 247875320 247875320 + Silent SNP G G C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:247875320G>C ENST00000302084.2 - 1 785 c.738C>G c.(736-738)acC>acG p.T246T RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TGAGCACCACGGTGAGATGCG 0.532000 128 93 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19571831 19571831 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:19571831C>T ENST00000507958.1 - 10 2100 c.1110G>A c.(1108-1110)ctG>ctA p.L370L CDH18_ENST00000506372.1_Silent_p.L370L|CDH18_ENST00000511273.1_Silent_p.L370L|CDH18_ENST00000502796.1_Silent_p.L370L|CDH18_ENST00000274170.4_Silent_p.L370L|CDH18_ENST00000382275.1_Silent_p.L370L Q13634 CAD18_HUMAN cadherin 18, type 2 370 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) CAATGATCTTCAGCATAGTAG 0.408000 39 55 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73269889 73269889 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:73269889G>A ENST00000224721.6 + 3 201 c.196G>A c.(196-198)Gtg>Atg p.V66M CDH23_ENST00000398809.4_Missense_Mutation_p.V66M|CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000398842.3_Missense_Mutation_p.V66M|CDH23_ENST00000461841.3_Missense_Mutation_p.V111M|CDH23_ENST00000299366.7_Missense_Mutation_p.V111M NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 66 Cadherin 1. 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 TGACCCCCTGGTGTTTGGCGT 0.572000 42 73 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1426872 1426872 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:1426872G>A ENST00000345913.4 + 3 241 c.150G>A c.(148-150)gtG>gtA p.V50V TPO_ENST00000329066.4_Silent_p.V50V|TPO_ENST00000337415.3_Silent_p.V50V|TPO_ENST00000382201.3_Silent_p.V50V|TPO_ENST00000346956.3_Silent_p.V50V|TPO_ENST00000349624.3_Silent_p.V50V|TPO_ENST00000497517.2_Intron|TPO_ENST00000382269.3_Silent_p.V50V|TPO_ENST00000539820.1_Silent_p.V50V|TPO_ENST00000382198.1_Silent_p.V50V NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 50 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) AGCGCCTGGTGGACACCGCCA 0.592000 20 40 0 0 1 0 0 CXCL12 6387 broad.mit.edu 37 10 44876285 44876285 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:44876285G>A ENST00000374429.2 - 2 191 c.105C>T c.(103-105)ttC>ttT p.F35F CXCL12_ENST00000395793.3_Silent_p.F35F|AL137026.1_ENST00000593376.1_Intron|CXCL12_ENST00000374426.2_Silent_p.F35F|CXCL12_ENST00000496375.1_5'UTR|CXCL12_ENST00000343575.6_Silent_p.F35F|CXCL12_ENST00000395795.4_Silent_p.F35F|CXCL12_ENST00000395794.2_Silent_p.F35F NM_000609.5|NM_001277990.1 NP_000600.1|NP_001264919.1 P48061 SDF1_HUMAN chemokine (C-X-C motif) ligand 12 35 blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus extracellular space chemokine activity|growth factor activity|signal transducer activity endometrium(1)|large_intestine(1)|lung(3)|skin(1) 6 Dexamethasone(DB01234) CATGGCTTTCGAAGAATCGGC 0.463000 88 143 0 0 1 0 0 OR2T10 127069 broad.mit.edu 37 1 248756416 248756416 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:248756416G>A ENST00000330500.2 - 1 684 c.654C>T c.(652-654)taC>taT p.Y218Y NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGATATAGTAGTAAGACACTG 0.458000 70 58 0 0 1 0 0 STRIP1 85369 broad.mit.edu 37 1 110596512 110596512 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:110596512C>T ENST00000369795.3 + 21 2514 c.2492C>T c.(2491-2493)tCc>tTc p.S831F STRIP1_ENST00000369796.1_Missense_Mutation_p.S736F NM_033088.2 NP_149079.2 striatin interacting protein 1 AAGCCCATTTCCTGGGAAGAG 0.527000 OREG0013647 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 33 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158435975 158435975 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:158435975C>T ENST00000289451.2 + 1 704 c.624C>T c.(622-624)gtC>gtT p.V208V NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) TTGCCTTGGTCATTCCTCTGC 0.473000 135 110 0 0 1 0 0 CCDC114 93233 broad.mit.edu 37 19 48805978 48805978 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:48805978G>A ENST00000315396.7 - 10 1784 c.1102C>T c.(1102-1104)Cgg>Tgg p.R368W NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 368 cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) AGCTGTCCCCGCACATCCTGG 0.647000 4 98 0 0 1 0 0 SLC27A5 10998 broad.mit.edu 37 19 59010865 59010865 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:59010865G>A ENST00000263093.2 - 7 1770 c.1661C>T c.(1660-1662)aCc>aTc p.T554I SLC27A5_ENST00000601355.1_Missense_Mutation_p.T470I NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 554 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity p.T554I(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 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;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) GGACCGGAAGGTGTCCCCGAG 0.657000 31 36 0 0 1 0 0 SIKE1 80143 broad.mit.edu 37 1 115321893 115321893 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:115321893G>A ENST00000369528.5 - 3 367 c.290C>T c.(289-291)tCc>tTc p.S97F SIKE1_ENST00000506320.1_5'UTR|SIKE1_ENST00000060969.5_Missense_Mutation_p.S93F NM_001102396.1|NM_025073.2 NP_001095866.1|NP_079349.2 Q9BRV8 SIKE1_HUMAN suppressor of IKBKE 1 93 cytosol protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(2) 6 TTCCTCCAAGGAAATCCATAG 0.388000 77 53 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160999567 160999567 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:160999567G>A ENST00000447678.1 - 28 4579 c.4459C>T c.(4459-4461)Cct>Tct p.P1487S LPA_ENST00000316300.5_Missense_Mutation_p.P1487S NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3995 Kringle 13. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TGTTCAGAAGGAGCCTCTGTG 0.483000 53 24 0 0 1 0 0 KCNV1 27012 broad.mit.edu 37 8 110986192 110986192 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:110986192G>A ENST00000524391.1 - 2 1458 c.426C>T c.(424-426)atC>atT p.I142I KCNV1_ENST00000297404.1_Silent_p.I142I|RP11-696P8.2_ENST00000530667.1_RNA Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 142 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) TGAGCTCATCGATGCCCCAGT 0.652000 41 26 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10450912 10450912 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:10450912C>T ENST00000245503.5 - 4 612 c.228G>A c.(226-228)caG>caA p.Q76Q CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.Q76Q|MYH2_ENST00000532183.1_Silent_p.Q76Q NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 76 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TGGGGAAGACCTGATCATCCT 0.418000 85 178 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210574681 210574681 + Silent SNP A A G TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:210574681A>G ENST00000360351.4 + 12 5282 c.4776A>G c.(4774-4776)acA>acG p.T1592T MAP2_ENST00000392194.1_Silent_p.T236T|MAP2_ENST00000361559.4_Silent_p.T236T|MAP2_ENST00000447185.1_Silent_p.T1588T|MAP2_ENST00000199940.6_Silent_p.T293T|MAP2_ENST00000475600.1_3'UTR NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 1592 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) GTACCTCAACACCCACTACCC 0.527000 43 85 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 120387881 120387881 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:120387881G>A ENST00000331113.4 + 6 2827 c.1862G>A c.(1861-1863)gGa>gAa p.G621E RP4-797C5.2_ENST00000450480.1_RNA NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 621 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) GAGTACTCAGGAGGAAATATT 0.423000 16 40 0 0 1 0 0 SETBP1 26040 broad.mit.edu 37 18 42281764 42281764 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr18:42281764G>A ENST00000282030.5 + 2 749 c.453G>A c.(451-453)acG>acA p.T151T SETBP1_ENST00000426838.4_Silent_p.T151T NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 151 nucleus DNA binding p.T97T(1)|p.T151T(1) NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) GCAAAGCCACGAAGGAGGAAG 0.428000 Schinzel-Giedion syndrome 32 48 0 0 1 0 0 KIF19 124602 broad.mit.edu 37 17 72350659 72350659 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:72350659G>A ENST00000389916.4 + 18 2805 c.2667G>A c.(2665-2667)agG>agA p.R889R NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 889 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 CAAAGAGAAGGAAGCGGAGGT 0.657000 3 12 0 0 1 0 0 TMIGD2 126259 broad.mit.edu 37 19 4294650 4294650 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:4294650C>T ENST00000301272.2 - 4 521 c.476G>A c.(475-477)gGa>gAa p.G159E TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000600114.1_Missense_Mutation_p.G39E|TMIGD2_ENST00000595645.1_Missense_Mutation_p.G159E NM_001169126.1|NM_144615.2 NP_001162597.1|NP_653216.2 Q96BF3 TMIG2_HUMAN transmembrane and immunoglobulin domain containing 2 159 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2) 19 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) ACCCATGCTTCCCACCCCCAG 0.632000 182 257 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2830745 2830745 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:2830745C>T ENST00000602557.1 - 58 9375 c.8820G>A c.(8818-8820)aaG>aaA p.K2940K CSMD1_ENST00000537824.1_Silent_p.K2939K|CSMD1_ENST00000520002.1_Silent_p.K2940K|CSMD1_ENST00000602723.1_Silent_p.K2882K|CSMD1_ENST00000400186.3_Silent_p.K2882K|CSMD1_ENST00000542608.1_Silent_p.K2881K Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2940 Sushi 22. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGAGAAGACTCTTTGTCTTAA 0.532000 75 120 0 0 1 0 0 OR52K2 119774 broad.mit.edu 37 11 4471058 4471058 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:4471058C>T ENST00000325719.4 + 1 534 c.489C>T c.(487-489)ttC>ttT p.F163F NM_001005172.2 NP_001005172.2 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, member 2 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6) 25 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) CACTCCCCTTCCTGCTGAGAT 0.577000 64 93 0 0 1 0 0 C1RL 51279 broad.mit.edu 37 12 7252557 7252557 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:7252557C>T ENST00000266542.4 - 4 648 c.556G>A c.(556-558)Gac>Aac p.D186N C1RL_ENST00000544702.1_Missense_Mutation_p.D186N|C1RL_ENST00000545280.1_Missense_Mutation_p.D70N NM_016546.2 NP_057630.2 Q9NZP8 C1RL_HUMAN complement component 1, r subcomponent-like 186 complement activation, classical pathway|innate immune response|proteolysis serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GCAGGGTTGTCTCCAGGTGCG 0.597000 21 29 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21788257 21788257 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:21788257G>A ENST00000328843.6 + 53 8622 c.8591G>A c.(8590-8592)gGg>gAg p.G2864E DNAH11_ENST00000409508.3_Missense_Mutation_p.G2857E Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2864 AAA 4 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GTTGGAGTTGGGGGCAGTGGC 0.542000 Kartagener syndrome 28 46 0 0 1 0 0 LAMC1 3915 broad.mit.edu 37 1 183109539 183109539 + Splice_Site SNP G G T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:183109539G>T ENST00000258341.4 + 27 4731 c.4473_splice c.e27-1 p.A1492_splice RP11-181K3.4_ENST00000457852.2_RNA NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 1492 Domain II and I. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCCCTTACAGGCTTCACAGGC 0.408000 23 65 6.44725e-10 6.49656e-10 1 1 0 SLIT2 9353 broad.mit.edu 37 4 20493408 20493408 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:20493408C>T ENST00000504154.1 + 9 1052 c.800C>T c.(799-801)tCt>tTt p.S267F SLIT2_ENST00000503823.1_Missense_Mutation_p.S267F|SLIT2_ENST00000503837.1_Missense_Mutation_p.S271F|SLIT2_ENST00000273739.5_Missense_Mutation_p.S271F NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 267 LRRNT 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 ATGGCTCCTTCTTGTAGTGTT 0.413000 79 120 0 0 1 0 0 NOD2 64127 broad.mit.edu 37 16 50763781 50763781 + Missense_Mutation SNP C C T rs41450053 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr16:50763781C>T ENST00000300589.2 + 11 3124 c.3019C>T c.(3019-3021)Ctt>Ttt p.L1007F NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 1007 activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|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 cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) CCTGCAGGCCCTTGAAAGGAA 0.493000 22 38 0 0 1 0 0 DDHD1 80821 broad.mit.edu 37 14 53539339 53539339 + Silent SNP A A G TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:53539339A>G ENST00000357758.3 - 6 1662 c.1479T>C c.(1477-1479)taT>taC p.Y493Y DDHD1_ENST00000323669.5_Silent_p.Y493Y|DDHD1_ENST00000395606.1_Silent_p.Y500Y NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 493 lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) GTGGACTAGTATAATACATTA 0.328000 19 34 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180041160 180041160 + Nonsense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:180041160C>T ENST00000261937.6 - 24 3317 c.3239G>A c.(3238-3240)tGg>tAg p.W1080* FLT4_ENST00000393347.3_Nonsense_Mutation_p.W1080*|FLT4_ENST00000502649.1_Nonsense_Mutation_p.W1080* NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 1080 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) AGGGGCCATCCACTTCAGGGG 0.617000 42 64 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189854121 189854121 + Splice_Site SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:189854121G>A ENST00000304636.3 + 8 806 c.e8-1 COL3A1_ENST00000317840.5_Splice_Site NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CTTATTTTCAGGGCCCTCCAG 0.333000 12 16 0 0 1 0 0 SPATA31D3 389762 broad.mit.edu 37 9 84562916 84562916 + RNA SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:84562916C>T ENST00000585776.1 - 0 942 SPATA31D3_ENST00000334208.4_RNA TAAATCTTTCCATATGAGGAT 0.413000 5 8 0 0 1 0 0 IGHA1 3493 broad.mit.edu 37 14 106173680 106173680 + RNA SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:106173680C>T ENST00000390547.2 - 0 886 GCGCAGTATGCTGGTCACAGC 0.662000 5 140 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9049655 9049655 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:9049655G>A ENST00000397910.4 - 5 32179 c.31976C>T c.(31975-31977)tCg>tTg p.S10659L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10661 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 ATCTGTCCCCGAAATAGTGAC 0.498000 41 55 0 0 1 0 0 SLC25A10 1468 broad.mit.edu 37 17 79682555 79682555 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:79682555C>T ENST00000331531.5 + 3 381 c.261C>T c.(259-261)gaC>gaT p.D87D SLC25A10_ENST00000571730.1_Silent_p.D242D|SLC25A10_ENST00000350690.5_Silent_p.D87D|SLC25A10_ENST00000541223.1_Silent_p.D242D|SLC25A10_ENST00000545862.1_Silent_p.D44D NM_001270888.1 NP_001257817.1 Q9UBX3 DIC_HUMAN solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 87 gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 14 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) CTGTGCGGGACCGTGTGGCCA 0.701000 147 249 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43820995 43820995 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr15:43820995C>T ENST00000382031.1 + 5 8069 c.8038C>T c.(8038-8040)Cgg>Tgg p.R2680W MAP1A_ENST00000399453.1_Missense_Mutation_p.R2442W|MAP1A_ENST00000300231.5_Missense_Mutation_p.R2442W P78559 MAP1A_HUMAN microtubule-associated protein 1A 2442 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CACTGAGCCTCGGCCCCATCG 0.647000 29 53 0 0 1 0 0 CYP4B1 1580 broad.mit.edu 37 1 47282765 47282765 + Missense_Mutation SNP G G C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:47282765G>C ENST00000271153.4 + 9 1152 c.1116G>C c.(1114-1116)gaG>gaC p.E372D CYP4B1_ENST00000452782.2_Missense_Mutation_p.E210D|CYP4B1_ENST00000371919.4_Missense_Mutation_p.E358D|CYP4B1_ENST00000371923.4_Missense_Mutation_p.E373D P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 372 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) GCATCAAGGAGAGCTTCCGCC 0.552000 51 82 0 0 1 0 0 STRC 161497 broad.mit.edu 37 15 43893730 43893730 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr15:43893730C>T ENST00000450892.2 - 24 4642 c.4565G>A c.(4564-4566)gGa>gAa p.G1522E STRC_ENST00000541030.1_Missense_Mutation_p.G749E NM_153700.2 NP_714544.1 Q7RTU9 STRC_HUMAN stereocilin 1522 sensory perception of sound cell surface 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) AGGACGAAATCCCCGGGGGGG 0.532000 28 64 0 0 1 0 0 NFE2 4778 broad.mit.edu 37 12 54686274 54686274 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:54686274G>A ENST00000540264.2 - 2 1515 c.1006C>T c.(1006-1008)Cac>Tac p.H336Y RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Missense_Mutation_p.H336Y|NFE2_ENST00000312156.4_Missense_Mutation_p.H336Y|NFE2_ENST00000553070.1_Missense_Mutation_p.H336Y Q16621 NFE2_HUMAN nuclear factor, erythroid 2 336 Leucine-zipper. blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytoplasm|PML body protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2) 16 TCCCGAAGGTGCTGGAAAATG 0.607000 39 74 0 0 1 0 0 NPIPB15 440348 broad.mit.edu 37 16 74425426 74425426 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr16:74425426C>T ENST00000429990.1 + 7 876 c.780C>T c.(778-780)tcC>tcT p.S260S nuclear pore complex interacting protein family, member B15 CTGATAACTCCCTGAGCCTCA 0.517000 21 295 0 0 1 0 0 CCNL1 57018 broad.mit.edu 37 3 156868170 156868170 + Splice_Site SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:156868170C>T ENST00000295926.3 - 6 793 c.674_splice c.e6-1 p.W225_splice CCNL1_ENST00000461804.1_Splice_Site_p.W225_splice|CCNL1_ENST00000479052.1_5'UTR NM_020307.2 NP_064703.1 Q9UK58 CCNL1_HUMAN cyclin L1 225 Cyclin-like 2. regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1) 18 LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308) TCATGTAATTCCTGAAAAATA 0.358000 11 25 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140603892 140603892 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:140603892G>A ENST00000239449.4 + 1 815 c.815G>A c.(814-816)gGa>gAa p.G272E PCDHB14_ENST00000515856.2_Missense_Mutation_p.G119E NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 272 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGGATGCAGGAAACTATGGA 0.428000 32 65 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51173027 51173027 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr16:51173027G>A ENST00000440970.1 - 2 3246 c.2815C>T c.(2815-2817)Cgt>Tgt p.R939C SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.R1036C NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 1036 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GAAAAGCCACGATTGCAAACT 0.448000 31 53 0 0 1 0 0 DHX36 170506 broad.mit.edu 37 3 154007527 154007527 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:154007527G>A ENST00000496811.1 - 16 1983 c.1903C>T c.(1903-1905)Cct>Tct p.P635S DHX36_ENST00000544526.1_Missense_Mutation_p.P621S|DHX36_ENST00000329463.5_Missense_Mutation_p.P621S|DHX36_ENST00000308361.6_Missense_Mutation_p.P635S NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 635 Helicase C-terminal. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TCTTCCAAAGGAGTTCTCAAA 0.328000 21 36 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48494828 48494828 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:48494828C>T ENST00000435803.1 + 43 12784 c.12760C>T c.(12760-12762)Cct>Tct p.P4254S ABCA13_ENST00000544596.1_Missense_Mutation_p.P14S NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4254 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CACCGAGTACCCTCCCCTCAG 0.572000 6 9 0 0 1 0 0 WDR24 84219 broad.mit.edu 37 16 737047 737047 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr16:737047G>A ENST00000293883.4 - 3 1788 c.1029C>T c.(1027-1029)ctC>ctT p.L343L WDR24_ENST00000248142.6_Silent_p.L473L NM_032259.2 NP_115635.1 Q96S15 WDR24_HUMAN WD repeat domain 24 473 breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3) 19 Hepatocellular(780;0.0218) GGCCGTAGCAGAGGCCCTCAG 0.706000 12 16 0 0 1 0 0 GATA5 140628 broad.mit.edu 37 20 61040905 61040905 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr20:61040905C>T ENST00000252997.2 - 5 959 c.898G>A c.(898-900)Gcc>Acc p.A300T NM_080473.4 NP_536721.1 Q9BWX5 GATA5_HUMAN GATA binding protein 5 300 blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter nucleoplasm sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding kidney(1)|lung(3)|ovary(1)|stomach(1) 6 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;3.08e-06) GAGCCCCTGGCCTTGGCGATG 0.652000 5 11 0 0 1 0 0 LILRA2 11027 broad.mit.edu 37 19 55086420 55086420 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:55086420C>T ENST00000251377.3 + 5 708 c.575C>T c.(574-576)tCg>tTg p.S192L LILRA2_ENST00000391737.1_Missense_Mutation_p.S180L|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.S192L|LILRA2_ENST00000251376.3_Missense_Mutation_p.S192L|LILRB1_ENST00000448689.1_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 p.S192L(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) CGCAGGTGGTCGTACAGGTGC 0.572000 82 109 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48456735 48456735 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:48456735G>A ENST00000358536.4 - 20 4085 c.3816C>T c.(3814-3816)gtC>gtT p.V1272V PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000296440.6_Silent_p.V1272V|PLXNB1_ENST00000456774.1_Silent_p.V1089V|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Silent_p.V1089V NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1272 IPT/TIG 3. axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TCTGGCCACGGACGCATATCT 0.587000 24 32 0 0 1 0 0 USHBP1 83878 broad.mit.edu 37 19 17375083 17375083 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:17375083C>T ENST00000252597.3 - 2 199 c.26G>A c.(25-27)cGa>cAa p.R9Q USHBP1_ENST00000598570.1_5'UTR|USHBP1_ENST00000431146.2_5'UTR NM_031941.3 NP_114147.2 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 9 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 TCGCCGGCTTCGGGGCCGCGT 0.637000 17 32 0 0 1 0 0 SHC3 53358 broad.mit.edu 37 9 91628405 91628405 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:91628405C>T ENST00000375835.4 - 12 2048 c.1742G>A c.(1741-1743)gGg>gAg p.G581E NM_016848.5 NP_058544.3 Q92529 SHC3_HUMAN SHC (Src homology 2 domain containing) transforming protein 3 581 SH2. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 CAGCTCACTCCCTGCAGAGAC 0.562000 44 66 0 0 1 0 0 PDZK1IP1 10158 broad.mit.edu 37 1 47650740 47650740 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:47650740C>T ENST00000294338.2 - 3 328 c.206G>A c.(205-207)gGa>gAa p.G69E PDZK1IP1_ENST00000371885.1_Missense_Mutation_p.G69E|PDZK1IP1_ENST00000491793.1_5'UTR NM_005764.3 NP_005755.1 Q13113 PDZ1I_HUMAN PDZK1 interacting protein 1 69 integral to membrane endometrium(1)|lung(1)|prostate(1) 3 TGCCTTGTTTCCGACGGTCAG 0.612000 32 72 0 0 1 0 0 PALD1 27143 broad.mit.edu 37 10 72292479 72292479 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:72292479G>A ENST00000263563.6 + 6 1004 c.736G>A c.(736-738)Gac>Aac p.D246N NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 TGGTGAGGACGACTTGCATGT 0.622000 71 120 0 0 1 0 0 OR8I2 120586 broad.mit.edu 37 11 55861061 55861061 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:55861061C>T ENST00000302124.2 + 1 309 c.278C>T c.(277-279)tCc>tTc p.S93F OR8I2_ENST00000560768.1_Missense_Mutation_p.S93F Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S93C(1) NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) AGATCCATCTCCTTTGTTGGC 0.388000 86 143 0 0 1 0 0 ZNF667 63934 broad.mit.edu 37 19 56952656 56952656 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:56952656G>A ENST00000504904.3 - 7 2427 c.1708C>T c.(1708-1710)Ctt>Ttt p.L570F ZNF667_ENST00000342634.3_Missense_Mutation_p.L698F|ZNF667_ENST00000292069.6_Missense_Mutation_p.L570F|ZNF667_ENST00000591790.1_3'UTR Q5HYK9 ZN667_HUMAN zinc finger protein 667 570 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) TGTCGAATAAGGTCTGAGCCA 0.413000 69 107 0 0 1 0 0 DSPP 1834 broad.mit.edu 37 4 88535191 88535191 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:88535191C>T ENST00000399271.1 + 5 1497 c.1377C>T c.(1375-1377)tcC>tcT p.S459S RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Silent_p.S459S NM_014208.3 NP_055023.2 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein 459 Asp/Ser-rich. biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) ATGATAAGTCCATGCAAGGAG 0.398000 37 59 0 0 1 0 0 SEMA3D 223117 broad.mit.edu 37 7 84697540 84697540 + Missense_Mutation SNP C C T rs148351346 byFrequency TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:84697540C>T ENST00000284136.6 - 5 599 c.556G>A c.(556-558)Gat>Aat p.D186N SEMA3D_ENST00000444867.1_Missense_Mutation_p.D186N NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 186 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 TGCTGAGGATCGAAAGGACAT 0.343000 26 72 0 0 1 0 0 MKX 283078 broad.mit.edu 37 10 28023495 28023495 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:28023495C>T ENST00000375790.5 - 5 1160 c.728G>A c.(727-729)gGa>gAa p.G243E MKX_ENST00000419761.1_Missense_Mutation_p.G243E Q8IYA7 MKX_HUMAN mohawk homeobox 243 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 CCTTGTTTTTCCCATCATGGT 0.448000 79 116 0 0 1 0 0 IDO1 3620 broad.mit.edu 37 8 39785516 39785516 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:39785516C>T ENST00000518237.1 + 10 1663 c.1024C>T c.(1024-1026)Ctg>Ttg p.L342L IDO1_ENST00000522495.1_Silent_p.L342L|RP11-44K6.3_ENST00000517623.1_RNA NM_002164.5 NP_002155.1 P14902 I23O1_HUMAN indoleamine 2,3-dioxygenase 1 342 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) TCTGGTCTCCCTGAGGAGCTA 0.493000 7 18 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52550583 52550583 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:52550583G>A ENST00000321725.6 + 40 4342 c.4266G>A c.(4264-4266)agG>agA p.R1422R NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1422 EGF-like 10. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) AGTGCCCTAGGAAGTGCGACC 0.652000 33 63 0 0 1 0 0 SPOCD1 90853 broad.mit.edu 37 1 32280897 32280897 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:32280897C>T ENST00000360482.2 - 2 167 c.38G>A c.(37-39)gGa>gAa p.G13E SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Missense_Mutation_p.G13E|SPOCD1_ENST00000533231.1_Missense_Mutation_p.G13E NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 13 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) CACAGGGTCTCCTGTGCTGGG 0.597000 19 60 0 0 1 0 0 LINC01410 103352539 broad.mit.edu 37 9 66458044 66458044 + RNA SNP T T G TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:66458044T>G ENST00000424345.1 + 0 67 GTCCTGGGCTTCGGCTGGGGC 0.682000 4 32 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76753166 76753166 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr18:76753166C>T ENST00000536229.3 + 1 1485 c.776C>T c.(775-777)gCg>gTg p.A259V SALL3_ENST00000575389.2_Missense_Mutation_p.A392V|SALL3_ENST00000537592.2_Missense_Mutation_p.A392V Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 392 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) CCGCTGTCCGCGCTCATGAAG 0.642000 16 25 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61430389 61430389 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:61430389C>T ENST00000398571.2 - 75 9470 c.9394G>A c.(9394-9396)Gac>Aac p.D3132N NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 3132 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) TCATAAACGTCATCTTTGCCC 0.318000 26 42 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9065685 9065685 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:9065685G>A ENST00000397910.4 - 3 21964 c.21761C>T c.(21760-21762)tCt>tTt p.S7254F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7256 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 TGTCTCCACAGAACTGCCTGT 0.483000 90 127 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179595882 179595882 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:179595882C>T ENST00000589042.1 - 60 17734 c.17510G>A c.(17509-17511)gGa>gAa p.G5837E TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G5520E|TTN_ENST00000342992.6_Missense_Mutation_p.G4593E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5520 Ig-like 39. 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) GGCTGGGTCTCCTTGGGTGAC 0.448000 78 132 0 0 1 0 0 MKS1 54903 broad.mit.edu 37 17 56294094 56294094 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:56294094C>T ENST00000393119.2 - 3 268 c.194G>A c.(193-195)gGa>gAa p.G65E MKS1_ENST00000313863.6_Missense_Mutation_p.G65E|MKS1_ENST00000546108.1_5'UTR|MKS1_ENST00000337050.7_Missense_Mutation_p.G65E|MKS1_ENST00000537529.2_Missense_Mutation_p.G55E NM_017777.3 NP_060247.2 Q9NXB0 MKS1_HUMAN Meckel syndrome, type 1 65 cilium assembly centrosome|cilium|microtubule basal body protein binding endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 TGGGCGGTGTCCACCTCCAAA 0.458000 16 46 0 0 1 0 0 BAD 572 broad.mit.edu 37 11 64037604 64037604 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:64037604G>A ENST00000544785.1 - 2 393 c.393C>T c.(391-393)ttC>ttT p.F131F BAD_ENST00000394532.3_3'UTR|BAD_ENST00000309032.3_3'UTR Q92934 BAD_HUMAN BCL2-associated agonist of cell death 0 activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation cytosol|mitochondrial outer membrane caspase activator activity|phospholipid binding|protein kinase binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1) 4 AGGCCTGAGGGAAGTACTTCC 0.602000 8 18 0 0 1 0 0 LHCGR 3973 broad.mit.edu 37 2 48950608 48950608 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:48950608C>T ENST00000294954.7 - 6 544 c.523G>A c.(523-525)Gaa>Aaa p.E175K LHCGR_ENST00000405626.1_Missense_Mutation_p.E175K|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.E175K|LHCGR_ENST00000401907.1_Missense_Mutation_p.E175K|LHCGR_ENST00000403273.1_Missense_Mutation_p.E175K NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 175 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) GTTACAGATTCATTATTCATC 0.373000 17 37 0 0 1 0 0 ILDR1 286676 broad.mit.edu 37 3 121712329 121712329 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:121712329C>T ENST00000273691.3 - 6 1240 c.1135G>A c.(1135-1137)Gat>Aat p.D379N ILDR1_ENST00000344209.5_Missense_Mutation_p.D423N|ILDR1_ENST00000393631.1_Missense_Mutation_p.D334N|ILDR1_ENST00000462014.1_Missense_Mutation_p.D391N|ILDR1_ENST00000460554.1_5'UTR NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 423 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) GAGGGGACATCGCTTAGGCTG 0.632000 33 33 0 0 1 0 0 GPR4 2828 broad.mit.edu 37 19 46095087 46095087 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:46095087G>A ENST00000323040.4 - 2 982 c.38C>T c.(37-39)tCg>tTg p.S13L OPA3_ENST00000544371.1_Intron NM_005282.2 NP_005273.1 P46093 GPR4_HUMAN G protein-coupled receptor 4 13 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) GTCCACGCGCGAGTCCACGTG 0.687000 35 41 0 0 1 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6530407 6530407 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:6530407C>T ENST00000377748.1 - 17 2417 c.1920G>A c.(1918-1920)aaG>aaA p.K640K PLEKHG5_ENST00000544978.1_Silent_p.K563K|PLEKHG5_ENST00000400913.1_Silent_p.K563K|PLEKHG5_ENST00000535355.1_Silent_p.K632K|PLEKHG5_ENST00000537245.1_Silent_p.K642K|PLEKHG5_ENST00000377725.1_Silent_p.K563K|PLEKHG5_ENST00000377737.2_Silent_p.K563K|PLEKHG5_ENST00000377728.3_Silent_p.K563K|PLEKHG5_ENST00000400915.3_Silent_p.K619K|PLEKHG5_ENST00000377732.1_Silent_p.K600K|PLEKHG5_ENST00000340850.5_Silent_p.K563K|PLEKHG5_ENST00000377740.3_Silent_p.K640K NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 619 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) GCAGAAATTCCTTCAGGAGCT 0.642000 49 35 0 0 1 0 0 UTP20 27340 broad.mit.edu 37 12 101706018 101706018 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:101706018C>T ENST00000261637.4 + 21 2690 c.2516C>T c.(2515-2517)tCc>tTc p.S839F NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 839 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 GAGCCACGGTCCAGGGAGCTT 0.453000 56 124 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51901687 51901687 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:51901687C>T ENST00000268919.4 + 1 1449 c.1293C>T c.(1291-1293)atC>atT p.I431I NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 431 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TGTTCCAGATCATCCTGAAGT 0.507000 16 35 0 0 1 0 0 GATA3 2625 broad.mit.edu 37 10 8111539 8111539 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:8111539G>A ENST00000379328.3 + 5 1596 c.1028G>A c.(1027-1029)gGg>gAg p.G343E GATA3_ENST00000346208.3_Missense_Mutation_p.G342E|GATA3_ENST00000461472.1_3'UTR NM_001002295.1|NM_002051.2 NP_001002295.1|NP_002042.1 P23771 GATA3_HUMAN GATA binding protein 3 342 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2) 87 AATGCCTGTGGGCTCTACTAC 0.572000 """F, N, S""" breast """HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)""" 27 45 0 0 1 0 0 CASC1 55259 broad.mit.edu 37 12 25297593 25297593 + Missense_Mutation SNP G G T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:25297593G>T ENST00000354189.5 - 9 917 c.882C>A c.(880-882)ttC>ttA p.F294L CASC1_ENST00000320267.9_Missense_Mutation_p.F230L|CASC1_ENST00000395987.3_Missense_Mutation_p.F236L|CASC1_ENST00000545133.1_Missense_Mutation_p.F171L|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000537577.1_Missense_Mutation_p.F118L|CASC1_ENST00000395990.2_Missense_Mutation_p.F190L NM_001082972.1 NP_001076441.1 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 230 breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) GTGTTTCAGAGAATCTAACAC 0.363000 17 36 1.15088e-07 1.15747e-07 1 1 0 AEBP1 165 broad.mit.edu 37 7 44147091 44147091 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:44147091G>A ENST00000223357.3 + 3 954 c.649G>A c.(649-651)Gca>Aca p.A217T NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 217 Pro-rich. cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 CCATGTGGAGGCACGGGAGCA 0.652000 20 46 0 0 1 0 0 LCN12 286256 broad.mit.edu 37 9 139847361 139847361 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:139847361C>T ENST00000371633.3 + 2 132 c.132C>T c.(130-132)ttC>ttT p.F44F NM_178536.3 NP_848631.2 Q6JVE5 LCN12_HUMAN lipocalin 12 44 lipid metabolic process extracellular region binding|transporter activity endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106) GGGAATGGTTCGTCCTGGGCC 0.672000 71 150 0 0 1 0 0 MPHOSPH10 10199 broad.mit.edu 37 2 71360300 71360300 + Missense_Mutation SNP A A G TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:71360300A>G ENST00000244230.2 + 2 714 c.362A>G c.(361-363)gAg>gGg p.E121G MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.E121G NM_005791.2 NP_005782.1 O00566 MPP10_HUMAN M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) 121 RNA splicing, via transesterification reactions|rRNA processing chromosome|nucleolus|small nucleolar ribonucleoprotein complex protein binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1) 26 GATGGTTCAGAGATAGAGGCT 0.423000 29 33 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101381423 101381423 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:101381423C>T ENST00000392979.3 + 7 965 c.604C>T c.(604-606)Cct>Tct p.P202S ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.P237S|ANO4_ENST00000299222.9_5'UTR NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 237 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 CTACACTGCCCCTTTCAGCCA 0.507000 HNSCC(74;0.22) OREG0022059 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 79 138 0 0 1 0 0 OR10T2 128360 broad.mit.edu 37 1 158368903 158368903 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:158368903C>T ENST00000334438.1 - 1 353 c.354G>A c.(352-354)gtG>gtA p.V118V NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) CATATCCCATCACAGCAATGA 0.493000 107 83 0 0 1 0 0 GCM2 9247 broad.mit.edu 37 6 10874719 10874719 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:10874719C>T ENST00000379491.4 - 5 1177 c.1030G>A c.(1030-1032)Gaa>Aaa p.E344K SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron NM_004752.3 NP_004743.1 O75603 GCM2_HUMAN glial cells missing homolog 2 (Drosophila) 344 cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 30 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) TTAGTCCTTTCCACAAGGCTG 0.502000 63 211 0 0 1 0 0 TPSD1 23430 broad.mit.edu 37 16 1308340 1308340 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr16:1308340C>T ENST00000211076.3 + 5 840 c.692C>T c.(691-693)tCt>tTt p.S231F TPSD1_ENST00000397534.2_Missense_Mutation_p.S224F NM_012217.2 NP_036349.1 Q9BZJ3 TRYD_HUMAN tryptase delta 1 231 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 20 Hepatocellular(780;0.00369) CAGGGTGACTCTGGAGGGCCC 0.672000 33 47 0 0 1 0 0 PDYN 5173 broad.mit.edu 37 20 1961563 1961563 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr20:1961563C>T ENST00000217305.2 - 4 396 c.171G>A c.(169-171)gaG>gaA p.E57E RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Silent_p.E57E|PDYN_ENST00000539905.1_Silent_p.E57E NM_001190892.1|NM_001190898.2|NM_024411.4 NP_001177821.1|NP_001177827.1|NP_077722.1 P01213 PDYN_HUMAN prodynorphin 57 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TCTCCCATTCCTCAGAGGGCA 0.542000 43 62 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70148333 70148333 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:70148333G>A ENST00000335568.5 + 2 825 c.823G>A c.(823-825)Gat>Aat p.D275N UGT2B28_ENST00000511240.1_Missense_Mutation_p.D275N NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 275 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) ACCAAACATTGATTTTGTTGG 0.403000 129 199 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95497824 95497824 + RNA SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:95497824C>T ENST00000432432.2 - 0 1019 NR_040113.1 GACACTTTCTCGGGGACACAC 0.353000 86 174 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25427549 25427549 + RNA SNP A A T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr15:25427549A>T ENST00000424208.1 + 0 272 SNHG14_ENST00000365306.1_RNA NR_003305.1 TGAGAACCTTATATTGTCCTG 0.517000 131 233 0 0 1 0 0 OR5M8 219484 broad.mit.edu 37 11 56258595 56258595 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:56258595G>A ENST00000327216.2 - 1 276 c.252C>T c.(250-252)ttC>ttT p.F84F NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 84 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) TCTCTGAAAGGAAAATCTCCA 0.468000 24 78 0 0 1 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55406938 55406938 + Splice_Site SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:55406938C>T ENST00000398661.2 - 3 330 c.198_splice c.e3-1 p.E67_splice HMGCLL1_ENST00000370850.2_Splice_Site_p.E37_splice|HMGCLL1_ENST00000308161.4_Splice_Site_p.E37_splice|HMGCLL1_ENST00000274901.4_Splice_Site_p.E37_splice|HMGCLL1_ENST00000428842.1_Splice_Site_p.E37_splice|HMGCLL1_ENST00000508459.1_Splice_Site_p.E37_splice NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 67 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) TGGGATGTTTCCTGAAATGCA 0.343000 12 8 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133978827 133978827 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:133978827C>T ENST00000220616.4 + 30 5611 c.5571C>T c.(5569-5571)tcC>tcT p.S1857S TG_ENST00000542445.1_Silent_p.S227S|TG_ENST00000519543.1_Silent_p.S11S|TG_ENST00000377869.1_Silent_p.S1800S NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1857 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AACTTTTCTCCCCTGTGGACC 0.443000 29 104 0 0 1 0 0 C10orf12 26148 broad.mit.edu 37 10 98742691 98742691 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:98742691C>T ENST00000286067.2 + 1 1651 c.1544C>T c.(1543-1545)tCc>tTc p.S515F NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 515 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) TCGGATTCTTCCTCTGCTGAC 0.388000 63 76 0 0 1 0 0 JAG2 3714 broad.mit.edu 37 14 105609870 105609870 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:105609870C>T ENST00000331782.3 - 25 3593 c.3190G>A c.(3190-3192)Gct>Act p.A1064T JAG2_ENST00000347004.2_Missense_Mutation_p.A1026T NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 1064 auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) TCGGTGACAGCCAGGAGCAGT 0.682000 4 7 0 0 1 0 0 LRRC73 221424 broad.mit.edu 37 6 43475632 43475632 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:43475632C>T ENST00000372441.1 - 4 1489 c.589G>A c.(589-591)Gtg>Atg p.V197M NM_001012974.1 NP_001012992.1 Q5JTD7 CF154_HUMAN leucine rich repeat containing 73 197 CTAGAGGCCACAGCTACAGCC 0.557000 3 17 0 0 1 0 0 FAM160B2 64760 broad.mit.edu 37 8 21959747 21959747 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:21959747C>T ENST00000289921.7 + 15 1959 c.1913C>T c.(1912-1914)cCc>cTc p.P638L NM_022749.5 NP_073586.5 Q86V87 F16B2_HUMAN family with sequence similarity 160, member B2 638 endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1) 9 TTCCCCCACCCCCATATTCAT 0.632000 30 50 0 0 1 0 0 INMT 11185 broad.mit.edu 37 7 30795057 30795057 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:30795057G>A ENST00000013222.5 + 3 398 c.382G>A c.(382-384)Gag>Aag p.E128K INMT_ENST00000484180.1_3'UTR|INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000409539.1_Missense_Mutation_p.E127K NM_001199219.1|NM_006774.4 NP_001186148.1|NP_006765.4 O95050 INMT_HUMAN indolethylamine N-methyltransferase 128 cytoplasm amine N-methyltransferase activity kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1) 23 GGAGGAGAAGGAGGAGAAGCT 0.637000 9 28 0 0 1 0 0 OR2L8 391190 broad.mit.edu 37 1 248112949 248112949 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:248112949C>T ENST00000357191.3 + 1 790 c.790C>T c.(790-792)Ctg>Ttg p.L264L OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TCCAAGATCCCTGCGATCTCC 0.483000 117 85 0 0 1 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52947285 52947285 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:52947285C>T ENST00000371544.3 - 11 1920 c.1658G>A c.(1657-1659)aGa>aAa p.R553K ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R553K NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 553 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 GTCATCCATTCTTTTTGGGTC 0.338000 77 100 0 0 1 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140732067 140732067 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:140732067C>T ENST00000523390.1 + 1 2240 c.2240C>T c.(2239-2241)tCc>tTc p.S747F PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 p.S747F(1) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGCCCTATTCCTACAATCTA 0.532000 65 80 0 0 1 0 0 IDO2 169355 broad.mit.edu 37 8 39873047 39873047 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:39873047G>A ENST00000502986.2 + 11 1431 c.1189G>A c.(1189-1191)Gga>Aga p.G397R IDO2_ENST00000389060.4_Missense_Mutation_p.G384R|IDO2_ENST00000343295.4_3'UTR NM_194294.2 NP_919270.2 Q6ZQW0 I23O2_HUMAN indoleamine 2,3-dioxygenase 2 384 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 18 GGGCACAGGTGGAACCGCAGT 0.537000 47 81 0 0 1 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140307259 140307259 + Missense_Mutation SNP A A G TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:140307259A>G ENST00000253807.2 + 1 782 c.782A>G c.(781-783)gAt>gGt p.D261G PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.D261G|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGGATCCAGATGAAGGGTCC 0.547000 21 36 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101794107 101794107 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:101794107C>T ENST00000506729.1 - 6 1281 c.1110G>A c.(1108-1110)aaG>aaA p.K370K SLCO6A1_ENST00000379807.3_Silent_p.K370K|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000389019.3_Silent_p.K308K|SLCO6A1_ENST00000379810.1_Intron Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 370 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) CACATAAATCCTTGATATTAG 0.303000 41 93 0 0 1 0 0 TRAV3 28690 broad.mit.edu 37 14 22192420 22192420 + RNA SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:22192420C>T ENST00000390425.2 + 0 371 GCCTCCAGTTCCTTCTGAAAT 0.443000 55 78 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9047822 9047822 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:9047822G>A ENST00000397910.4 - 5 34012 c.33809C>T c.(33808-33810)cCt>cTt p.P11270L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11272 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 ACTCTCTGCAGGATGGGTGAC 0.488000 13 22 0 0 1 0 0 CEACAM20 125931 broad.mit.edu 37 19 45033496 45033496 + RNA SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:45033496C>T ENST00000454753.1 - 0 315 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) AGCAGGATTCCCATCCAGTGG 0.587000 17 39 0 0 1 0 0 CCNA1 8900 broad.mit.edu 37 13 37011886 37011886 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr13:37011886G>A ENST00000418263.1 + 3 765 c.415G>A c.(415-417)Gat>Aat p.D139N CCNA1_ENST00000255465.4_Missense_Mutation_p.D140N|CCNA1_ENST00000440264.1_Missense_Mutation_p.D96N|CCNA1_ENST00000449823.1_Missense_Mutation_p.D96N NM_001111045.1|NM_003914.3 NP_001104515.1|NP_003905.1 P78396 CCNA1_HUMAN cyclin A1 140 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) CATCTACATGGATGAACTAGA 0.522000 39 82 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36872607 36872607 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:36872607G>A ENST00000301807.6 - 21 8582 c.6685C>T c.(6685-6687)Cat>Tat p.H2229Y TRANK1_ENST00000428977.2_Missense_Mutation_p.H2229Y|TRANK1_ENST00000429976.2_Missense_Mutation_p.H2779Y NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2779 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TGTTCTAGATGGATATGCTGC 0.547000 72 87 0 0 1 0 0 OR4X1 390113 broad.mit.edu 37 11 48286185 48286185 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:48286185G>A ENST00000320048.1 + 1 773 c.773G>A c.(772-774)aGg>aAg p.R258K NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 GTCTATATTAGGCCCTGTGTC 0.493000 67 118 0 0 1 0 0 MORC2 22880 broad.mit.edu 37 22 31334094 31334094 + Missense_Mutation SNP A A C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr22:31334094A>C ENST00000215862.4 - 14 2349 c.986T>G c.(985-987)aTc>aGc p.I329S MORC2_ENST00000397641.2_Missense_Mutation_p.I391S|MORC2_ENST00000469915.1_Intron NM_014941.1 NP_055756.1 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 391 ATP binding|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 ATACATTTTGATCAGTCGGCT 0.488000 29 55 0 0 1 0 0 CACNG3 10368 broad.mit.edu 37 16 24373118 24373118 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr16:24373118C>T ENST00000005284.3 + 4 2084 c.882C>T c.(880-882)tcC>tcT p.S294S NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 294 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) TCCACAATTCCACACCCAAAG 0.567000 58 92 0 0 1 0 0 LRRC48 83450 broad.mit.edu 37 17 17900816 17900816 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:17900816G>A ENST00000313838.8 + 10 1246 c.867G>A c.(865-867)gaG>gaA p.E289E LRRC48_ENST00000584166.1_Silent_p.E289E|LRRC48_ENST00000399182.1_Silent_p.E289E|LRRC48_ENST00000399187.1_Silent_p.E289E|LRRC48_ENST00000411504.2_Silent_p.E289E NM_001130090.1 NP_001123562.1 Q9H069 LRC48_HUMAN leucine rich repeat containing 48 289 cytoplasm breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1) 7 all_neural(463;0.228) ATATTTTTGAGTATGGCCTGA 0.522000 12 19 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31354891 31354891 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr15:31354891G>A ENST00000542188.1 - 8 1344 c.1031C>T c.(1030-1032)tCc>tTc p.S344F TRPM1_ENST00000397795.2_Missense_Mutation_p.S305F|TRPM1_ENST00000256552.6_Missense_Mutation_p.S327F NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 305 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) CTCCCTGAGGGACTCATTTAT 0.333000 29 56 0 0 1 0 0 TAF4 6874 broad.mit.edu 37 20 60589625 60589625 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr20:60589625G>A ENST00000252996.3 - 2 1498 c.1499C>T c.(1498-1500)cCc>cTc p.P500L NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa 500 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) GATCTGGACGGGAGGGGCACT 0.667000 20 23 0 0 1 0 0 SLC6A4 6532 broad.mit.edu 37 17 28545831 28545831 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:28545831G>A ENST00000401766.2 - 3 974 c.462C>T c.(460-462)atC>atT p.I154I SLC6A4_ENST00000261707.3_Silent_p.I154I P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 154 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) AAATCGGGCAGATTTTCCTCC 0.517000 73 116 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881468 228881468 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:228881468G>A ENST00000392056.3 - 7 4148 c.4102C>T c.(4102-4104)Ctc>Ttc p.L1368F SPHKAP_ENST00000344657.5_Missense_Mutation_p.L1368F NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1368 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) GGGCAATCGAGAGACTCCTGA 0.502000 47 62 0 0 1 0 0 EMR3 84658 broad.mit.edu 37 19 14748929 14748929 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:14748929C>T ENST00000253673.5 - 11 1572 c.1472G>A c.(1471-1473)gGa>gAa p.G491E EMR3_ENST00000599900.1_Missense_Mutation_p.G276E|EMR3_ENST00000443157.2_Missense_Mutation_p.G365E|EMR3_ENST00000344373.4_Missense_Mutation_p.G439E NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 491 neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 ATCAGCAGTTCCATAAAGGTG 0.493000 64 64 0 0 1 0 0 ZNF570 148268 broad.mit.edu 37 19 37975423 37975423 + Missense_Mutation SNP A A G TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:37975423A>G ENST00000330173.1 + 5 1428 c.899A>G c.(898-900)aAa>aGa p.K300R ZNF570_ENST00000586475.1_Missense_Mutation_p.K356R|ZNF570_ENST00000388801.3_Missense_Mutation_p.K97R NM_144694.1 NP_653295.1 Q96NI8 ZN570_HUMAN zinc finger protein 570 300 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ACTGGAGAAAAACCTTACGAA 0.423000 58 81 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61832037 61832037 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:61832037C>T ENST00000280772.1 - 37 8793 c.8602G>A c.(8602-8604)Gaa>Aaa p.E2868K ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2868 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GAAAGTTTTTCTTTCTGAGAC 0.388000 56 79 0 0 1 0 0 ZNF227 7770 broad.mit.edu 37 19 44739223 44739223 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:44739223C>T ENST00000313040.7 + 6 845 c.640C>T c.(640-642)Cat>Tat p.H214Y ZNF227_ENST00000391961.2_Missense_Mutation_p.H163Y|ZNF227_ENST00000589005.1_Missense_Mutation_p.H163Y NM_182490.1 NP_872296.1 Q86WZ6 ZN227_HUMAN zinc finger protein 227 214 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1) 24 Prostate(69;0.0435) ATCACCATTTCATGAGCATAT 0.358000 35 38 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179642012 179642012 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:179642012C>T ENST00000589042.1 - 27 4902 c.4678G>A c.(4678-4680)Gaa>Aaa p.E1560K TTN_ENST00000359218.5_Missense_Mutation_p.E1514K|TTN_ENST00000591111.1_Missense_Mutation_p.E1560K|TTN_ENST00000342992.6_Missense_Mutation_p.E1560K|TTN_ENST00000460472.2_Missense_Mutation_p.E1514K|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E1560K|TTN_ENST00000342175.6_Missense_Mutation_p.E1514K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1295 Ig-like 7. 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) TTCAGTTTTTCTACAAACATC 0.393000 34 52 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138651569 138651569 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:138651569C>T ENST00000298480.5 + 11 973 c.899C>T c.(898-900)tCc>tTc p.S300F KCNT1_ENST00000490355.2_Missense_Mutation_p.S281F|KCNT1_ENST00000263604.3_Missense_Mutation_p.S281F|KCNT1_ENST00000491806.2_Missense_Mutation_p.S267F|KCNT1_ENST00000488444.2_Missense_Mutation_p.S281F|KCNT1_ENST00000487664.1_Missense_Mutation_p.S255F|KCNT1_ENST00000486577.2_Missense_Mutation_p.S261F|KCNT1_ENST00000371757.2_Missense_Mutation_p.S300F B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 300 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) GAGAACCTGTCCCTCCTGACC 0.677000 28 51 0 0 1 0 0 OR51V1 283111 broad.mit.edu 37 11 5221391 5221391 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:5221391G>A ENST00000321255.1 - 1 539 c.540C>T c.(538-540)ttC>ttT p.F180F NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAAGGATGTGGAAATGACAGT 0.388000 45 70 0 0 1 0 0 DGKH 160851 broad.mit.edu 37 13 42752276 42752276 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr13:42752276G>A ENST00000379274.2 + 13 1479 c.1050G>A c.(1048-1050)acG>acA p.T350T DGKH_ENST00000538674.1_Silent_p.T241T|DGKH_ENST00000536612.1_Silent_p.T350T|DGKH_ENST00000337343.4_Silent_p.T486T|DGKH_ENST00000261491.4_Silent_p.T486T|DGKH_ENST00000540693.1_Silent_p.T486T|DGKH_ENST00000498255.2_3'UTR Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta 486 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) TTCAGATGACGATTTATGAAG 0.378000 56 82 0 0 1 0 0 FLRT1 23769 broad.mit.edu 37 11 63885561 63885561 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:63885561G>A ENST00000246841.3 + 2 2865 c.1822G>A c.(1822-1824)Gat>Aat p.D608N MACROD1_ENST00000255681.6_Intron NM_013280.4 NP_037412.2 Q9NZU1 FLRT1_HUMAN fibronectin leucine rich transmembrane protein 1 580 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1) 14 GACCAAGAAGGATAACTCCAT 0.592000 39 52 0 0 1 0 0 ITM2A 9452 broad.mit.edu 37 X 78616940 78616940 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chrX:78616940C>T ENST00000434584.2 - 4 793 c.457G>A c.(457-459)Gaa>Aaa p.E153K ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000373298.2_Missense_Mutation_p.E197K NM_001171581.1 NP_001165052.1 O43736 ITM2A_HUMAN integral membrane protein 2A 197 BRICHOS. integral to membrane protein binding breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 18 ACTAGGTCTTCTCGAACCACA 0.383000 26 6 0 0 1 0 0 ABLIM2 84448 broad.mit.edu 37 4 8009923 8009923 + Missense_Mutation SNP T T C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:8009923T>C ENST00000318888.4 - 15 1455 c.584A>G c.(583-585)aAg>aGg p.K195R ABLIM2_ENST00000447017.2_Missense_Mutation_p.K494R|ABLIM2_ENST00000341937.5_Splice_Site_p.K460_splice|ABLIM2_ENST00000407564.3_Missense_Mutation_p.K409R|ABLIM2_ENST00000428004.2_Missense_Mutation_p.K420R|ABLIM2_ENST00000361737.5_Splice_Site_p.K419_splice|ABLIM2_ENST00000505872.1_Splice_Site_p.K408_splice|ABLIM2_ENST00000545242.1_Splice_Site_p.K460_splice|ABLIM2_ENST00000514025.1_Missense_Mutation_p.K195R|ABLIM2_ENST00000361581.5_Splice_Site_p.K460_splice|ABLIM2_ENST00000546334.1_Splice_Site_p.K419_splice|ABLIM2_ENST00000296372.8_Missense_Mutation_p.K461R Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 460 LIM zinc-binding 3. axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 CCAGCTGCTCTTCTGCTGAAG 0.507000 34 50 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158636178 158636178 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:158636178C>T ENST00000368148.3 - 16 2328 c.2148G>A c.(2146-2148)ggG>ggA p.G716G SPTA1_ENST00000368147.3_Silent_p.G716G NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 716 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.G716E(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CCAGGCCTTTCCCATAATCCT 0.532000 42 31 0 0 1 0 0 DDC 1644 broad.mit.edu 37 7 50611755 50611755 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:50611755C>T ENST00000444124.2 - 2 229 c.29G>A c.(28-30)gGg>gAg p.G10E DDC_ENST00000431062.1_Missense_Mutation_p.G10E|DDC_ENST00000426377.1_Missense_Mutation_p.G10E|DDC_ENST00000357936.5_Missense_Mutation_p.G10E|DDC_ENST00000380984.4_Missense_Mutation_p.G10E NM_001082971.1 NP_001076440.1 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 10 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) CATCTCCTTCCCTCTCCTTCG 0.527000 92 180 0 0 1 0 0 PLCD4 84812 broad.mit.edu 37 2 219492868 219492868 + Missense_Mutation SNP A A G TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:219492868A>G ENST00000450993.2 + 7 1228 c.889A>G c.(889-891)Aac>Gac p.N297D PLCD4_ENST00000432688.1_Missense_Mutation_p.N297D|PLCD4_ENST00000417849.1_Missense_Mutation_p.N297D NM_032726.3 NP_116115.1 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 297 PI-PLC X-box. intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3) 23 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TCAACCCCTGAACCACTACTT 0.527000 59 111 0 0 1 0 0 PTPN22 26191 broad.mit.edu 37 1 114372637 114372637 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:114372637G>A ENST00000359785.5 - 17 2203 c.2068C>T c.(2068-2070)Cgt>Tgt p.R690C PTPN22_ENST00000420377.2_Missense_Mutation_p.R690C|PTPN22_ENST00000538253.1_Missense_Mutation_p.R446C|PTPN22_ENST00000528414.1_Missense_Mutation_p.R635C|PTPN22_ENST00000525799.1_Missense_Mutation_p.R563C|PTPN22_ENST00000460620.1_Intron NM_001193431.1|NM_015967.5 NP_001180360.1|NP_057051.3 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 690 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GGAGAAGAACGATCTTGATGT 0.358000 35 39 0 0 1 0 0 APBA2 321 broad.mit.edu 37 15 29346357 29346357 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr15:29346357C>T ENST00000558402.1 + 5 869 c.270C>T c.(268-270)ctC>ctT p.L90L APBA2_ENST00000558330.1_Silent_p.L90L|APBA2_ENST00000411764.1_Silent_p.L90L|APBA2_ENST00000558259.1_Silent_p.L90L|APBA2_ENST00000561069.1_Silent_p.L90L Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 90 nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) ACGAGGGCCTCCCTGAGGAGG 0.612000 87 136 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625956 29625956 + Missense_Mutation SNP G G A rs147809085 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr20:29625956G>A ENST00000278882.3 + 5 580 c.200G>A c.(199-201)aGa>aAa p.R67K FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K|FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K p.R67K(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATTGGACCAAGAGAACAATGG 0.338000 5 129 0 0 1 0 0 RPLP0P6 220717 broad.mit.edu 37 2 38709677 38709677 + RNA SNP A A G TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:38709677A>G ENST00000417039.1 - 0 696 CTGTCTGCAGACTGGCTACCC 0.512000 21 47 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126372418 126372418 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:126372418G>A ENST00000394329.3 + 9 10260 c.10247G>A c.(10246-10248)gGg>gAg p.G3416E FAT4_ENST00000335110.5_Missense_Mutation_p.G1714E NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3416 Cadherin 33. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ATCAGTGAAGGGGTCCCAATA 0.463000 88 133 0 0 1 0 0 ZNF563 147837 broad.mit.edu 37 19 12430406 12430406 + Nonsense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:12430406G>A ENST00000293725.5 - 4 638 c.433C>T c.(433-435)Caa>Taa p.Q145* ZNF563_ENST00000595977.1_Nonsense_Mutation_p.Q145* NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 145 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TTCCCACGTTGTTTATGTGTA 0.433000 103 151 0 0 1 0 0 DDX31 64794 broad.mit.edu 37 9 135521432 135521432 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:135521432G>A ENST00000372159.3 - 13 1696 c.1545C>T c.(1543-1545)gtC>gtT p.V515V DDX31_ENST00000372153.1_Silent_p.V515V|DDX31_ENST00000438527.3_Silent_p.V386V|DDX31_ENST00000310532.2_Silent_p.V515V NM_022779.7 NP_073616.6 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 515 Helicase C-terminal. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) TTGAGAAAAAGACAACCATCT 0.478000 20 44 0 0 1 0 0 ZDHHC8 29801 broad.mit.edu 37 22 20130340 20130340 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr22:20130340C>T ENST00000334554.7 + 10 1328 c.1187C>T c.(1186-1188)tCc>tTc p.S396F ZDHHC8_ENST00000320602.7_Missense_Mutation_p.S304F|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.S396F NM_013373.3 NP_037505.1 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC-type containing 8 396 cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 20 Colorectal(54;0.0993) GACTTTGTGTCCGAGCCGAGC 0.652000 20 28 0 0 1 0 0 ELL2 22936 broad.mit.edu 37 5 95226827 95226827 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:95226827G>A ENST00000237853.4 - 10 2090 c.1741C>T c.(1741-1743)Cca>Tca p.P581S ELL2_ENST00000431061.2_Missense_Mutation_p.P331S NM_012081.5 NP_036213.2 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 581 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 24 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) TTTGAGCCTGGAGAAAGGCGC 0.428000 101 160 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2962884 2962884 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:2962884C>T ENST00000396946.4 - 16 2427 c.2024G>A c.(2023-2025)aGc>aAc p.S675N NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 675 PDZ. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GGAGGTGAGGCTGTCGCCATT 0.682000 Mis DLBCL 42 64 0 0 1 0 0 PRSS16 10279 broad.mit.edu 37 6 27216652 27216652 + Nonsense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:27216652G>A ENST00000230582.3 + 3 279 c.264G>A c.(262-264)tgG>tgA p.W88* PRSS16_ENST00000421826.2_Intron NM_005865.3 NP_005856.1 Q9NQE7 TSSP_HUMAN protease, serine, 16 (thymus) 88 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 ACCAACATTGGGTTGGCCAGG 0.522000 54 59 0 0 1 0 0 AATK 9625 broad.mit.edu 37 17 79094480 79094480 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:79094480G>A ENST00000326724.4 - 11 3280 c.3256C>T c.(3256-3258)Cca>Tca p.P1086S AATK_ENST00000417379.1_Missense_Mutation_p.P983S NM_001080395.2 NP_001073864.2 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 1086 Pro-rich. integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1) 21 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) ACCTTGGCTGGGCCTTGGGGC 0.687000 7 7 0 0 1 0 0 ZNF184 7738 broad.mit.edu 37 6 27420104 27420104 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:27420104G>A ENST00000211936.6 - 6 1518 c.1234C>T c.(1234-1236)Cat>Tat p.H412Y ZNF184_ENST00000377419.1_Missense_Mutation_p.H412Y NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 412 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 TCACCAGTATGAATCATATGA 0.403000 41 110 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94528179 94528179 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:94528179C>T ENST00000370225.3 - 13 1977 c.1891G>A c.(1891-1893)Gga>Aga p.G631R ABCA4_ENST00000535735.1_Missense_Mutation_p.G631R NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 631 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) AGGTAGATTCCAACTGGAGCC 0.577000 21 29 0 0 1 0 0 RNF40 9810 broad.mit.edu 37 16 30774758 30774758 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr16:30774758C>T ENST00000324685.6 + 4 755 c.320C>T c.(319-321)gCc>gTc p.A107V RNF40_ENST00000563683.1_Missense_Mutation_p.A107V|RNF40_ENST00000357890.5_Missense_Mutation_p.A107V|RNF40_ENST00000402121.3_Intron NM_001207033.1|NM_014771.3 NP_001193962.1|NP_055586.1 O75150 BRE1B_HUMAN ring finger protein 40, E3 ubiquitin protein ligase 107 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) ACTGTGGAAGCCCTTCTCCGA 0.532000 49 79 0 0 1 0 0 OR5H14 403273 broad.mit.edu 37 3 97868711 97868711 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:97868711G>A ENST00000437310.1 + 1 542 c.482G>A c.(481-483)gGa>gAa p.G161E NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 ATCCATGAAGGATTTTTATTC 0.348000 66 199 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6913720 6913720 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:6913720C>T ENST00000312053.4 + 11 1216 c.1179C>T c.(1177-1179)ttC>ttT p.F393F EMR1_ENST00000381407.5_Silent_p.F252F|EMR1_ENST00000250572.8_Silent_p.F393F|EMR1_ENST00000450315.3_Silent_p.F216F|EMR1_ENST00000381404.4_Silent_p.F341F NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 393 Ser/Thr-rich. cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) GGACTAAATTCACCAAGGAAG 0.458000 53 81 0 0 1 0 0 ZNF844 284391 broad.mit.edu 37 19 12187235 12187235 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:12187235C>T ENST00000439326.3 + 4 1475 c.1300C>T c.(1300-1302)Cct>Tct p.P434S ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 434 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 TCTTCCACTTCCTTTCGATAT 0.428000 35 56 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189929294 189929294 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:189929294G>A ENST00000374866.3 - 25 1979 c.1705C>T c.(1705-1707)Cca>Tca p.P569S NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 569 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CGAGCACCTGGAAGCCCAGGT 0.517000 33 61 0 0 1 0 0 SAFB 6294 broad.mit.edu 37 19 5667168 5667168 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:5667168C>T ENST00000292123.5 + 18 2553 c.2446C>T c.(2446-2448)Ccc>Tcc p.P816S SAFB_ENST00000433404.1_Missense_Mutation_p.P646S|SAFB_ENST00000538656.1_Missense_Mutation_p.P658S|SAFB_ENST00000588852.1_Missense_Mutation_p.P816S|SAFB_ENST00000454510.1_Missense_Mutation_p.P747S|SAFB_ENST00000592224.1_Missense_Mutation_p.P815S NM_001201338.1|NM_001201339.1|NM_002967.3 NP_001188267.1|NP_001188268.1|NP_002958.2 Q15424 SAFB1_HUMAN scaffold attachment factor B 816 Arg-rich.|Gly-rich.|Interaction with SAFB2. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1) 23 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) GCTGCCTCCTCCCCCCAGGTT 0.697000 18 30 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55539350 55539350 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:55539350G>A ENST00000220676.1 + 4 3056 c.2908G>A c.(2908-2910)Gaa>Aaa p.E970K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 970 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) TTTTGTTATGGAAAGTAATAA 0.328000 52 67 0 0 1 0 0 CECR2 27443 broad.mit.edu 37 22 17978463 17978463 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr22:17978463C>T ENST00000262608.8 + 3 304 c.304C>T c.(304-306)Cgt>Tgt p.R102C CECR2_ENST00000342247.5_Missense_Mutation_p.R101C|CECR2_ENST00000497534.1_3'UTR|CECR2_ENST00000400573.4_Missense_Mutation_p.R121C|CECR2_ENST00000400585.2_5'UTR NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 143 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) AGACAGTCTCCGTGTGGAGCC 0.488000 28 32 0 0 1 0 0 AP5B1 91056 broad.mit.edu 37 11 65547165 65547165 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:65547165G>A ENST00000532090.2 - 2 1009 c.799C>T c.(799-801)Ctg>Ttg p.L267L NM_138368.4 NP_612377.4 Q2VPB7 YK046_HUMAN adaptor-related protein complex 5, beta 1 subunit 210 Leu-rich. protein binding lung(1) 1 GCAGCCCGCAGCTCCCGCGCC 0.692000 44 65 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113170211 113170211 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:113170211C>T ENST00000401783.2 - 38 8005 c.7669G>A c.(7669-7671)Gat>Aat p.D2557N SVEP1_ENST00000374469.1_Missense_Mutation_p.D2534N|SVEP1_ENST00000297826.5_Missense_Mutation_p.D483N NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2557 Sushi 20. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TGTGGGGAATCACAGTGGATG 0.498000 26 47 0 0 1 0 0 ZNF90 7643 broad.mit.edu 37 19 20228766 20228766 + Nonsense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:20228766C>T ENST00000418063.2 + 4 515 c.403C>T c.(403-405)Caa>Taa p.Q135* ZNF90_ENST00000474284.1_Intron NM_007138.1 NP_009069.1 Q03938 ZNF90_HUMAN zinc finger protein 90 135 Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|lung(2)|ovary(1)|skin(1) 5 TGGACTTAACCAATGTTTGAC 0.318000 7 25 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32828135 32828135 + Silent SNP C C A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:32828135C>A ENST00000421745.2 + 71 14189 c.14055C>A c.(14053-14055)acC>acA p.T4685T NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 4685 Ubiquitin-conjugating. anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) ATCCTCAGACCTCAAGCTTTT 0.318000 17 34 1.67942e-08 1.69064e-08 1 1 0 GLI3 2737 broad.mit.edu 37 7 42085042 42085042 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:42085042G>A ENST00000395925.3 - 6 851 c.767C>T c.(766-768)cCc>cTc p.P256L GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 256 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 GGCAGCTGAGGGAATAATGTC 0.557000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 64 119 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189933514 189933514 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:189933514G>A ENST00000374866.3 - 19 1529 c.1255C>T c.(1255-1257)Cct>Tct p.P419S NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 419 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) AAACTTACAGGAAGACCTGGA 0.468000 13 38 0 0 1 0 0 KNG1 3827 broad.mit.edu 37 3 186459315 186459315 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:186459315C>T ENST00000265023.4 + 10 1342 c.1130C>T c.(1129-1131)tCa>tTa p.S377L KNG1_ENST00000287611.2_Missense_Mutation_p.S377L|KNG1_ENST00000447445.1_Missense_Mutation_p.S341L|RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000354642.2_RNA NM_001102416.2 NP_001095886.1 P01042 KNG1_HUMAN kininogen 1 377 Cystatin 3. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2) 21 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) GTTTAGATCTCACTGATGAAA 0.358000 35 54 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11725355 11725355 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:11725355C>T ENST00000381486.2 + 8 1270 c.970C>T c.(970-972)Cca>Tca p.P324S GREB1_ENST00000381483.2_Missense_Mutation_p.P324S|GREB1_ENST00000263834.5_Missense_Mutation_p.P324S|GREB1_ENST00000234142.5_Missense_Mutation_p.P324S NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 324 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TCCATCAGCTCCAGATGGTGG 0.517000 12 32 0 0 1 0 0 ASIC5 51802 broad.mit.edu 37 4 156753060 156753060 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:156753060G>A ENST00000537611.2 - 9 1289 c.1243C>T c.(1243-1245)Ctt>Ttt p.L415F NM_017419.2 NP_059115.1 Q9NY37 ACCN5_HUMAN acid-sensing (proton-gated) ion channel family member 5 415 integral to membrane|plasma membrane ATTTTTACAAGATTCTCCCTA 0.308000 55 105 0 0 1 0 0 CLDN10 9071 broad.mit.edu 37 13 96205200 96205200 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr13:96205200G>A ENST00000299339.2 + 1 222 c.193G>A c.(193-195)Gac>Aac p.D65N CLDN10_ENST00000376873.3_Intron NM_006984.4 NP_008915.1 P78369 CLD10_HUMAN claudin 10 65 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 15 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.18) CAACTGCAAGGACTTCCCCTC 0.672000 25 52 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176998830 176998830 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:176998830C>T ENST00000367654.2 - 5 1073 c.1060G>A c.(1060-1062)Gaa>Aaa p.E354K ASTN1_ENST00000361833.2_Missense_Mutation_p.E354K|ASTN1_ENST00000367657.3_Missense_Mutation_p.E354K|ASTN1_ENST00000424564.2_Missense_Mutation_p.E354K|ASTN1_ENST00000281881.3_5'UTR O14525 ASTN1_HUMAN astrotactin 1 354 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GGGTCGTTTTCTGCCTCTGTG 0.502000 26 37 0 0 1 0 0 ANKFN1 162282 broad.mit.edu 37 17 54543926 54543926 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:54543926C>T ENST00000566473.2 + 14 1776 c.1776C>T c.(1774-1776)acC>acT p.T592T ANKFN1_ENST00000318698.2_Silent_p.T592T Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 592 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 TACTGATAACCATCCAGGTAT 0.378000 10 15 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77672723 77672723 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr13:77672723C>T ENST00000407578.2 - 56 8832 c.8566G>A c.(8566-8568)Gct>Act p.A2856T MYCBP2_ENST00000357337.6_Missense_Mutation_p.A2818T|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000360084.5_Missense_Mutation_p.A341T|MYCBP2_ENST00000544440.2_Missense_Mutation_p.A2818T NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 2818 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) TTAACAGGAGCAGTACTTTTT 0.473000 41 69 0 0 1 0 0 SMCHD1 23347 broad.mit.edu 37 18 2784559 2784559 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr18:2784559C>T ENST00000320876.6 + 45 5997 c.5659C>T c.(5659-5661)Cgg>Tgg p.R1887W SMCHD1_ENST00000261598.8_Missense_Mutation_p.R1887W|RP11-703M24.5_ENST00000583546.1_RNA NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 1887 chromosome organization ATP binding p.R1887W(2)|p.R1335W(1) NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 GGATAAACTTCGGGGAATGGT 0.398000 9 21 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112694273 112694273 + Missense_Mutation SNP G G T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:112694273G>T ENST00000550722.1 - 21 3135 c.2740C>A c.(2740-2742)Cct>Act p.P914T HECTD4_ENST00000430131.2_Missense_Mutation_p.P628T|HECTD4_ENST00000377560.5_Missense_Mutation_p.P878T NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 CATGGGGCAGGAATCTTTAAA 0.443000 20 29 1.00905e-13 1.01969e-13 1 1 0 ATXN7 6314 broad.mit.edu 37 3 63981493 63981493 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:63981493C>T ENST00000398590.3 + 12 2548 c.1995C>T c.(1993-1995)tcC>tcT p.S665S ATXN7_ENST00000487717.1_Silent_p.S665S|ATXN7_ENST00000538065.1_Silent_p.S665S|ATXN7_ENST00000295900.6_Silent_p.S665S|ATXN7_ENST00000484332.1_Silent_p.S520S NM_001177387.1 NP_001170858.1 O15265 ATX7_HUMAN ataxin 7 665 Ser-rich. cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3) 35 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) TTCCTTCCTCCCCCATGTCCA 0.512000 44 84 0 0 1 0 0 ATP8A1 10396 broad.mit.edu 37 4 42416644 42416644 + Splice_Site SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:42416644G>A ENST00000381668.5 - 36 3628 c.3397_splice c.e36+1 p.H1133_splice ATP8A1_ENST00000264449.10_Splice_Site_p.H1118_splice NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 1133 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) AAATACTCACGGAGCAGATTT 0.393000 38 66 0 0 1 0 0 DLG4 1742 broad.mit.edu 37 17 7111499 7111499 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:7111499G>A ENST00000399510.2 - 4 1071 c.219C>T c.(217-219)ccC>ccT p.P73P DLG4_ENST00000399506.2_Silent_p.P30P|DLG4_ENST00000485100.1_Silent_p.P30P|DLG4_ENST00000302955.6_Silent_p.P30P NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) 30 PDZ 1. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 TTACCTGGTTGGGGAGGTGGG 0.682000 54 72 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101510522 101510522 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:101510522C>T ENST00000392979.3 + 24 2772 c.2411C>T c.(2410-2412)tCt>tTt p.S804F ANO4_ENST00000550015.1_Missense_Mutation_p.S359F|ANO4_ENST00000392977.3_Missense_Mutation_p.S839F|ANO4_ENST00000299222.9_Missense_Mutation_p.S359F NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 839 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 GAGAACCGATCTGAGCCTGAA 0.512000 HNSCC(74;0.22) 76 121 0 0 1 0 0 LRRC4 64101 broad.mit.edu 37 7 127668930 127668930 + Silent SNP G G A rs139849197 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:127668930G>A ENST00000249363.3 - 2 2021 c.1764C>T c.(1762-1764)tcC>tcT p.S588S SND1_ENST00000354725.3_Intron NM_022143.4 NP_071426.1 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 588 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2) 26 Lung(243;0.124) CTGATACACCGGACGGAgctg 0.547000 18 26 0 0 1 0 0 OR52L1 338751 broad.mit.edu 37 11 6007949 6007949 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:6007949G>A ENST00000332249.4 - 1 266 c.212C>T c.(211-213)cCa>cTa p.P71L NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTGCAAGGATGGGTCCATCCA 0.532000 25 38 0 0 1 0 0 FOSL2 2355 broad.mit.edu 37 2 28635187 28635187 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:28635187C>T ENST00000264716.4 + 4 1716 c.853C>T c.(853-855)Cct>Tct p.P285S FOSL2_ENST00000379619.1_Missense_Mutation_p.P277S|FOSL2_ENST00000545753.1_Missense_Mutation_p.P246S NM_005253.3 NP_005244.1 P15408 FOSL2_HUMAN FOS-like antigen 2 285 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155) CTTCACCTATCCTAGCGTCCT 0.617000 27 54 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51399381 51399381 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:51399381G>A ENST00000266037.9 + 48 5121 c.5098G>A c.(5098-5100)Gac>Aac p.D1700N NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1700 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GATGCTGGGTGACGGCTCCAT 0.572000 12 15 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55538522 55538522 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:55538522G>A ENST00000220676.1 + 4 2228 c.2080G>A c.(2080-2082)Gga>Aga p.G694R NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 694 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) TGCAACCAAAGGAATTCTTAA 0.353000 21 42 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28728530 28728530 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr18:28728530C>T ENST00000257197.3 - 6 964 c.703G>A c.(703-705)Gat>Aat p.D235N DSC1_ENST00000257198.5_Missense_Mutation_p.D235N|RP11-408H20.2_ENST00000581836.1_RNA NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 235 Cadherin 1. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TTATCATTATCATCTTCAATT 0.383000 50 85 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118530812 118530812 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:118530812G>A ENST00000336338.5 - 39 5602 c.5537C>T c.(5536-5538)aCt>aTt p.T1846I NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1846 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GAATAAATCAGTTAGGTGAGC 0.373000 14 38 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152384066 152384066 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:152384066C>T ENST00000397345.3 - 147 21971 c.21769G>A c.(21769-21771)Gcc>Acc p.A7257T NEB_ENST00000172853.10_Missense_Mutation_p.A5556T|NEB_ENST00000604864.1_Missense_Mutation_p.A7257T|NEB_ENST00000603639.1_Missense_Mutation_p.A7257T|NEB_ENST00000427231.2_Missense_Mutation_p.A7257T|NEB_ENST00000409198.1_Missense_Mutation_p.A5556T NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 5556 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TTCCAGTGGGCTTTGTTGGCT 0.473000 7 18 0 0 1 0 0 KLHL13 90293 broad.mit.edu 37 X 117043467 117043467 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chrX:117043467C>T ENST00000371876.1 - 4 3431 c.1010G>A c.(1009-1011)gGa>gAa p.G337E KLHL13_ENST00000545703.1_Missense_Mutation_p.G346E|KLHL13_ENST00000469946.1_Missense_Mutation_p.G337E|KLHL13_ENST00000541812.1_Missense_Mutation_p.G372E|KLHL13_ENST00000371882.1_Missense_Mutation_p.G337E|KLHL13_ENST00000540167.1_Missense_Mutation_p.G372E|KLHL13_ENST00000371878.1_Missense_Mutation_p.G337E|KLHL13_ENST00000262820.3_Missense_Mutation_p.G388E|KLHL13_ENST00000539496.1_Missense_Mutation_p.G391E Q9P2N7 KLH13_HUMAN kelch-like family member 13 388 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 GAGAAAATTTCCAATGACGGC 0.443000 62 13 0 0 1 0 0 CCR1 1230 broad.mit.edu 37 3 46245377 46245377 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:46245377C>T ENST00000296140.3 - 2 553 c.428G>A c.(427-429)cGg>cAg p.R143Q CCR3_ENST00000357422.2_Intron NM_001295.2 NP_001286.1 P32246 CCR1_HUMAN chemokine (C-C motif) receptor 1 143 cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) GGTCCGTGCCCGCAAGGCAAA 0.517000 32 57 0 0 1 0 0 SLC24A1 9187 broad.mit.edu 37 15 65917338 65917338 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr15:65917338C>T ENST00000261892.6 + 2 1207 c.920C>T c.(919-921)cCc>cTc p.P307L SLC24A1_ENST00000399033.4_Missense_Mutation_p.P307L|SLC24A1_ENST00000537259.1_Missense_Mutation_p.P307L|SLC24A1_ENST00000544319.2_Missense_Mutation_p.P307L|SLC24A1_ENST00000339868.6_Missense_Mutation_p.P307L|SLC24A1_ENST00000546330.1_Missense_Mutation_p.P307L NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 307 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 CCGAAGACTCCCCAGGGAACA 0.547000 56 98 0 0 1 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50463870 50463870 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:50463870C>T ENST00000447370.2 - 2 489 c.399G>A c.(397-399)gtG>gtA p.V133V SIGLEC11_ENST00000426971.2_Silent_p.V133V NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 133 Ig-like V-type. cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) TTCCTCTCTCCACCCGAAAGA 0.557000 7 151 0 0 1 0 0 EPHA4 2043 broad.mit.edu 37 2 222301148 222301148 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:222301148C>T ENST00000281821.2 - 13 2358 c.2317G>A c.(2317-2319)Gat>Aat p.D773N EPHA4_ENST00000409854.1_Missense_Mutation_p.D773N|EPHA4_ENST00000409938.1_Missense_Mutation_p.D773N|EPHA4_ENST00000392071.4_Missense_Mutation_p.D722N NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 773 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) TCCGGATCATCCTCAAGCACT 0.493000 30 49 0 0 1 0 0 SCYL2 55681 broad.mit.edu 37 12 100717410 100717410 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:100717410C>T ENST00000360820.2 + 11 1940 c.1503C>T c.(1501-1503)tcC>tcT p.S501S NM_017988.4 NP_060458.3 Q6P3W7 SCYL2_HUMAN SCY1-like 2 (S. cerevisiae) 501 endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1) 41 AAACATCTTCCCTTGCGGTAA 0.303000 33 38 0 0 1 0 0 PHF20L1 51105 broad.mit.edu 37 8 133816978 133816978 + Missense_Mutation SNP G G C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:133816978G>C ENST00000395386.2 + 8 1139 c.840G>C c.(838-840)aaG>aaC p.K280N PHF20L1_ENST00000337920.4_Missense_Mutation_p.K254N|PHF20L1_ENST00000395374.1_Missense_Mutation_p.K119N|PHF20L1_ENST00000395376.1_Missense_Mutation_p.K285N|PHF20L1_ENST00000395382.3_Missense_Mutation_p.K150N|PHF20L1_ENST00000395383.1_Missense_Mutation_p.K284N|PHF20L1_ENST00000395390.2_Missense_Mutation_p.K255N|PHF20L1_ENST00000315808.10_Missense_Mutation_p.K280N|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395379.1_Missense_Mutation_p.K280N NM_016018.4 NP_057102.4 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 280 nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2) 15 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) GACTTAACAAGATTACTGGTA 0.333000 61 147 0 0 1 0 0 SYT3 84258 broad.mit.edu 37 19 51140561 51140561 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:51140561G>A ENST00000338916.4 - 1 741 c.108C>T c.(106-108)ttC>ttT p.F36F SYT3_ENST00000593901.1_Silent_p.F36F|SYT3_ENST00000544769.1_Silent_p.F36F|SYT3_ENST00000600079.1_Silent_p.F36F NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III 36 cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) TTCGGTCATTGAACTCCTGGC 0.632000 40 63 0 0 1 0 0 TMEM209 84928 broad.mit.edu 37 7 129832639 129832639 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:129832639G>A ENST00000397622.2 - 6 720 c.598C>T c.(598-600)Cct>Tct p.P200S TMEM209_ENST00000473456.1_Missense_Mutation_p.P200S|TMEM209_ENST00000336804.8_Missense_Mutation_p.P199S|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000462753.1_Missense_Mutation_p.P199S NM_032842.3 NP_116231.2 Q96SK2 TM209_HUMAN transmembrane protein 209 200 Ser-rich. integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 12 Melanoma(18;0.0435) TACGGAGAAGGAGGAGAGGGG 0.398000 18 43 0 0 1 0 0 SCARNA2 677766 broad.mit.edu 37 1 109643057 109643057 + RNA SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:109643057C>T ENST00000458748.1 + 0 243 NR_003023.1 AAGCTCTCCTCCTGCGAAGCC 0.706000 15 38 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179499914 179499914 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:179499914C>T ENST00000589042.1 - 228 42226 c.42002G>A c.(42001-42003)gGa>gAa p.G14001E TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G5061E|TTN_ENST00000591111.1_Missense_Mutation_p.G12360E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G11433E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G4936E|TTN_ENST00000342175.6_Missense_Mutation_p.G5128E|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12360 Ig-like 95. 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) TAGAAGTTCTCCTTTCAGTTT 0.368000 38 82 0 0 1 0 0 CEP120 153241 broad.mit.edu 37 5 122727023 122727023 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:122727023G>A ENST00000306467.5 - 7 1123 c.819C>T c.(817-819)ctC>ctT p.L273L CEP120_ENST00000328236.5_Silent_p.L273L|CEP120_ENST00000395431.2_Silent_p.L273L|CEP120_ENST00000306481.6_Silent_p.L247L Q8N960 CE120_HUMAN centrosomal protein 120kDa 273 centrosome breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 29 CTCCACAGCAGAGGTGAATCT 0.363000 54 96 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10299732 10299732 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:10299732C>T ENST00000403437.2 - 33 4662 c.4568G>A c.(4567-4569)gGa>gAa p.G1523E CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1523 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 AATTTGCTTTCCTCCCTCTGC 0.428000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 13 24 0 0 1 0 0 HOXB2 3212 broad.mit.edu 37 17 46620947 46620947 + Missense_Mutation SNP C C A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:46620947C>A ENST00000330070.4 - 2 1721 c.554G>T c.(553-555)aGg>aTg p.R185M HOXB-AS1_ENST00000504972.3_RNA NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 185 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 TTTGACCTGCCTTTCGGTGAG 0.622000 67 84 9.12251e-31 9.25422e-31 1 1 0 MAGEA12 4111 broad.mit.edu 37 X 151900533 151900533 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chrX:151900533C>T ENST00000393900.3 - 3 621 c.268G>A c.(268-270)Gaa>Aaa p.E90K MAGEA12_ENST00000357916.4_Missense_Mutation_p.E90K|MAGEA12_ENST00000393869.3_Missense_Mutation_p.E90K|CSAG4_ENST00000361201.4_RNA NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 90 breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) TCCTGTTCTTCGTTGCTGGAG 0.542000 74 27 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21028360 21028360 + Nonsense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:21028360C>T ENST00000381545.3 + 9 1138 c.919C>T c.(919-921)Caa>Taa p.Q307* SLCO1B3_ENST00000261196.2_Nonsense_Mutation_p.Q307*|LST3_ENST00000540229.1_Nonsense_Mutation_p.Q307*|SLCO1B3_ENST00000553473.1_Nonsense_Mutation_p.Q307*|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 307 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity p.Q307E(1) breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) TGATAGAAATCAAACAGCTAA 0.303000 32 48 0 0 1 0 0 CXXC1 30827 broad.mit.edu 37 18 47809679 47809679 + Missense_Mutation SNP T T C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr18:47809679T>C ENST00000285106.6 - 13 2341 c.1627A>G c.(1627-1629)Aag>Gag p.K543E CXXC1_ENST00000412036.2_Missense_Mutation_p.K547E|CXXC1_ENST00000589940.1_Silent_p.V530V NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 543 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 TGGAGCCGCTTACAGTATGTT 0.577000 46 94 0 0 1 0 0 SLC39A4 55630 broad.mit.edu 37 8 145638191 145638191 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:145638191G>A ENST00000276833.5 - 10 1995 c.1692C>T c.(1690-1692)atC>atT p.I564I SLC39A4_ENST00000301305.3_Silent_p.I589I|SLC39A4_ENST00000531013.1_5'UTR NM_017767.2 NP_060237.2 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), member 4 589 cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 14 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) CCACTGCCAGGATCCAGGCCT 0.667000 18 61 0 0 1 0 0 NEK5 341676 broad.mit.edu 37 13 52639699 52639699 + Nonsense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr13:52639699C>T ENST00000355568.4 - 22 2110 c.1971G>A c.(1969-1971)tgG>tgA p.W657* NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 657 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) CTCCTCCATCCCACTGCCTCC 0.537000 25 45 0 0 1 0 0 CTAGE9 643854 broad.mit.edu 37 6 132031200 132031200 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:132031200G>A ENST00000314099.8 - 1 1006 c.958C>T c.(958-960)Cat>Tat p.H320Y ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron NM_001145659.1|NM_001278507.1 NP_001139131.1|NP_001265436.1 A4FU28 CTGE9_HUMAN CTAGE family, member 9 320 integral to membrane endometrium(1)|lung(1) 2 TTAGCAGCATGAATCAGTTTC 0.358000 18 19 0 0 1 0 0 GSDMC 56169 broad.mit.edu 37 8 130765052 130765052 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:130765052C>T ENST00000276708.4 - 7 1617 c.736G>A c.(736-738)Gaa>Aaa p.E246K NM_031415.2 NP_113603.1 Q9BYG8 GSDMC_HUMAN gasdermin C 246 mitochondrion autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 26 cctaccatttcggaaatttcg 0.473000 56 56 0 0 1 0 0 MRC2 9902 broad.mit.edu 37 17 60744889 60744889 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:60744889C>T ENST00000303375.5 + 6 1514 c.1112C>T c.(1111-1113)cCt>cTt p.P371L NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 371 endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 GAGCCCACCCCTCCAGGTGAG 0.687000 31 46 0 0 1 0 0 OR10A3 26496 broad.mit.edu 37 11 7960713 7960713 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:7960713C>T ENST00000360759.3 - 1 428 c.355G>A c.(355-357)Gct>Act p.A119T NM_001003745.1 NP_001003745.1 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, member 3 119 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CGGTCATAAGCCATCGCTCCC 0.403000 58 80 0 0 1 0 0 SEC31B 25956 broad.mit.edu 37 10 102249834 102249834 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:102249834G>A ENST00000370345.3 - 21 2993 c.2896C>T c.(2896-2898)Ctt>Ttt p.L966F NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 966 Pro-rich. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) TCCCCTGGAAGGTATGGCACA 0.602000 32 80 0 0 1 0 0 OR52E6 390078 broad.mit.edu 37 11 5862259 5862259 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:5862259G>A ENST00000329322.5 - 1 868 c.869C>T c.(868-870)cCt>cTt p.P290L TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.P294L NM_001005167.1 NP_001005167.1 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, member 6 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATAGATTACAGGATTGAGGGT 0.413000 32 71 0 0 1 0 0 KCTD8 386617 broad.mit.edu 37 4 44449631 44449631 + Nonsense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:44449631G>A ENST00000360029.3 - 1 1193 c.910C>T c.(910-912)Cag>Tag p.Q304* NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 304 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 TCGCGGTACTGGTTGACGAAG 0.612000 HNSCC(17;0.042) 19 34 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21792458 21792458 + Translation_Start_Site SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:21792458C>T ENST00000281523.2 - 0 469 ZNF385D_ENST00000494118.1_Intron NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 TCAGCTCTCACCCAAGGCTGG 0.532000 25 31 0 0 1 0 0 NXPE1 120400 broad.mit.edu 37 11 114392862 114392862 + Missense_Mutation SNP C C T rs17852630 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:114392862C>T ENST00000536271.1 - 4 1863 c.620G>A c.(619-621)gGa>gAa p.G207E NXPE1_ENST00000251921.2_Missense_Mutation_p.G349E|NXPE1_ENST00000424269.1_Missense_Mutation_p.G491E neurexophilin and PC-esterase domain family, member 1 ATGGAAGTCTCCAAACCTCTC 0.413000 59 79 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856741 53856741 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:53856741C>T ENST00000458035.1 + 4 2930 c.2813C>T c.(2812-2814)aCt>aTt p.T938I ZNF845_ENST00000595091.1_Missense_Mutation_p.T938I NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 938 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 ACAATTCATACTGGAGAGAAA 0.358000 10 43 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247588671 247588671 + Silent SNP C C T rs34698071 byFrequency TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:247588671C>T ENST00000366497.2 + 4 2706 c.1926C>T c.(1924-1926)ttC>ttT p.F642F NLRP3_ENST00000366496.2_Silent_p.F642F|NLRP3_ENST00000391827.2_Silent_p.F642F|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Silent_p.F642F|NLRP3_ENST00000336119.3_Silent_p.F642F|NLRP3_ENST00000348069.2_Silent_p.F642F NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 642 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) AGGAGGACTTCGTGCAAAGGG 0.468000 29 69 0 0 1 0 0 MYLK2 85366 broad.mit.edu 37 20 30408182 30408182 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr20:30408182G>A ENST00000375994.2 + 2 579 c.306G>A c.(304-306)gcG>gcA p.A102A MYLK2_ENST00000375985.4_Silent_p.A102A Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 102 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) AGCAGACTGCGACACCTGAGA 0.692000 19 37 0 0 1 0 0 OR10A5 144124 broad.mit.edu 37 11 6867415 6867415 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:6867415C>T ENST00000299454.4 + 1 533 c.502C>T c.(502-504)Cca>Tca p.P168S OR10A5_ENST00000379831.2_Missense_Mutation_p.P172S Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 168 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) CTTCAGTTTTCCATTCTGTGG 0.527000 68 122 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261979 39261979 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:39261979C>T ENST00000391415.1 + 1 396 c.339C>T c.(337-339)acC>acT p.T113T NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 113 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 GTGAGACGACCTGCTGCCACC 0.662000 16 38 0 0 1 0 0 AATK 9625 broad.mit.edu 37 17 79094479 79094479 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:79094479G>A ENST00000326724.4 - 11 3281 c.3257C>T c.(3256-3258)cCa>cTa p.P1086L AATK_ENST00000417379.1_Missense_Mutation_p.P983L NM_001080395.2 NP_001073864.2 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 1086 Pro-rich. integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1) 21 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) CACCTTGGCTGGGCCTTGGGG 0.687000 7 7 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1437330 1437330 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:1437330G>A ENST00000345913.4 + 4 391 c.300G>A c.(298-300)gcG>gcA p.A100A TPO_ENST00000329066.4_Silent_p.A100A|TPO_ENST00000337415.3_Silent_p.A100A|TPO_ENST00000382201.3_Silent_p.A100A|TPO_ENST00000346956.3_Silent_p.A100A|TPO_ENST00000349624.3_Silent_p.A100A|TPO_ENST00000497517.2_Intron|TPO_ENST00000382269.3_Silent_p.A100A|TPO_ENST00000539820.1_Silent_p.A100A|TPO_ENST00000382198.1_Silent_p.A100A NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 100 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CAATACAAGCGATGAAAAGAA 0.493000 34 57 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 97251297 97251297 + Missense_Mutation SNP C C T rs139774071 by1000genomes TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:97251297C>T ENST00000389672.5 + 11 2334 c.2296C>T c.(2296-2298)Cgg>Tgg p.R766W EPHA6_ENST00000502694.1_Missense_Mutation_p.R158W|EPHA6_ENST00000442602.2_Missense_Mutation_p.R132W|EPHA6_ENST00000514100.1_Missense_Mutation_p.R158W NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 671 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity p.R672R(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 CCACATGGATCGGCAAAGAAG 0.433000 32 60 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54306679 54306679 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr15:54306679C>T ENST00000545554.1 + 1 1579 c.1579C>T c.(1579-1581)Cat>Tat p.H527Y UNC13C_ENST00000260323.11_Missense_Mutation_p.H527Y|UNC13C_ENST00000537900.1_Missense_Mutation_p.H527Y Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 527 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) AACCACAACCCATTATGCAGA 0.363000 36 44 0 0 1 0 0 ABCD2 225 broad.mit.edu 37 12 39967563 39967563 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:39967563C>T ENST00000308666.3 - 9 2093 c.1958G>A c.(1957-1959)gGg>gAg p.G653E NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 653 ABC transporter. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 AATTCCAGCCCCTTTTGCAGC 0.378000 31 57 0 0 1 0 0 MORC2 22880 broad.mit.edu 37 22 31334093 31334093 + Missense_Mutation SNP G G C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr22:31334093G>C ENST00000215862.4 - 14 2350 c.987C>G c.(985-987)atC>atG p.I329M MORC2_ENST00000397641.2_Missense_Mutation_p.I391M|MORC2_ENST00000469915.1_Intron NM_014941.1 NP_055756.1 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 391 ATP binding|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 CATACATTTTGATCAGTCGGC 0.488000 30 56 0 0 1 0 0 GSTCD 79807 broad.mit.edu 37 4 106640681 106640681 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:106640681C>T ENST00000515279.1 + 3 1111 c.891C>T c.(889-891)ttC>ttT p.F297F GSTCD_ENST00000394728.3_Silent_p.F297F|GSTCD_ENST00000394730.3_Silent_p.F210F|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000360505.5_Silent_p.F297F|GSTCD_ENST00000507281.1_Silent_p.F210F Q8NEC7 GSTCD_HUMAN glutathione S-transferase, C-terminal domain containing 297 GST C-terminal. cytoplasm rRNA methyltransferase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1) 14 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139) TCCATCATTTCTTGGTAAGGT 0.403000 29 58 0 0 1 0 0 DENND2C 163259 broad.mit.edu 37 1 115166206 115166206 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:115166206G>A ENST00000393274.1 - 5 1490 c.865C>T c.(865-867)Cgt>Tgt p.R289C DENND2C_ENST00000393277.1_Missense_Mutation_p.R289C|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.R289C NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 289 NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AGTTCTTCACGAATCGTCTGT 0.343000 32 79 0 0 1 0 0 FARP2 9855 broad.mit.edu 37 2 242401950 242401950 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:242401950G>A ENST00000264042.3 + 15 1770 c.1600G>A c.(1600-1602)Gac>Aac p.D534N FARP2_ENST00000545004.1_Missense_Mutation_p.D534N|FARP2_ENST00000373287.4_Missense_Mutation_p.D534N NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 534 axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) CGTGCCTGCAGACGAGGCCTA 0.488000 72 56 0 0 1 0 0 MAST3 23031 broad.mit.edu 37 19 18234941 18234941 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:18234941G>A ENST00000262811.5 + 8 739 c.739G>A c.(739-741)Gag>Aag p.E247K NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 247 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 GGAGAAGCTGGAGCGGCTTCT 0.602000 8 16 0 0 1 0 0 LRRC20 55222 broad.mit.edu 37 10 72083658 72083658 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:72083658C>T ENST00000355790.4 - 4 838 c.361G>A c.(361-363)Gcg>Acg p.A121T LRRC20_ENST00000373224.1_Missense_Mutation_p.A121T|LRRC20_ENST00000358141.2_Missense_Mutation_p.A71T|LRRC20_ENST00000395011.1_Missense_Mutation_p.A71T|LRRC20_ENST00000395010.1_Intron NM_001278212.1|NM_001278214.1|NM_207119.1 NP_001265141.1|NP_001265143.1|NP_997002.1 Q8TCA0 LRC20_HUMAN leucine rich repeat containing 20 121 endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1) 9 GTCTCCAGCGCCGGCAGGGCG 0.662000 33 74 0 0 1 0 0 TOP2A 7153 broad.mit.edu 37 17 38556912 38556912 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:38556912G>A ENST00000423485.1 - 22 2826 c.2668C>T c.(2668-2670)Cca>Tca p.P890S NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 890 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) TTGTAACTTGGAAGCTAAATT 0.303000 14 28 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155451079 155451079 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:155451079G>A ENST00000461783.3 + 6 1995 c.722G>A c.(721-723)aGc>aAc p.S241N TIAM2_ENST00000456144.1_Missense_Mutation_p.S241N|TIAM2_ENST00000318981.5_Missense_Mutation_p.S241N|TIAM2_ENST00000529824.2_Missense_Mutation_p.S241N|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.S241N Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 241 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AGCAAAGGCAGCTCCCTGAGT 0.667000 44 35 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110505956 110505956 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:110505956C>T ENST00000378402.5 + 63 10407 c.10303C>T c.(10303-10305)Cgc>Tgc p.R3435C NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3435 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGCAGGATACCGCATTGATGG 0.333000 HNSCC(38;0.096) 30 33 0 0 1 0 0 LCE1A 353131 broad.mit.edu 37 1 152799963 152799963 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:152799963G>A ENST00000335123.2 + 1 15 c.15G>A c.(13-15)caG>caA p.Q5Q NM_178348.2 NP_848125.1 Q5T7P2 LCE1A_HUMAN late cornified envelope 1A 5 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 8 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCTGCCAGCAGAGCCAGCAGC 0.607000 118 78 0 0 1 0 0 HNRNPUL1 11100 broad.mit.edu 37 19 41798299 41798299 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:41798299C>T ENST00000392006.3 + 8 1322 c.1149C>T c.(1147-1149)ttC>ttT p.F383F HNRNPUL1_ENST00000378215.4_Silent_p.F269F|HNRNPUL1_ENST00000593587.1_Silent_p.F283F|HNRNPUL1_ENST00000595018.1_Silent_p.F283F|HNRNPUL1_ENST00000263367.3_Silent_p.F294F|HNRNPUL1_ENST00000602130.1_Silent_p.F383F|HNRNPUL1_ENST00000352456.3_Silent_p.F283F NM_007040.3 NP_008971.2 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 383 B30.2/SPRY.|Necessary for interaction with TP53. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 29 AGTTCAACTTCGGACAGAGAG 0.557000 68 120 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153578163 153578163 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chrX:153578163G>A ENST00000422373.1 - 45 7630 c.7382C>T c.(7381-7383)cCc>cTc p.P2461L FLNA_ENST00000344736.4_Missense_Mutation_p.P2429L|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000360319.4_Missense_Mutation_p.P2461L|FLNA_ENST00000369856.3_Missense_Mutation_p.P602L|FLNA_ENST00000369850.3_Missense_Mutation_p.P2469L NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 2469 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CACCTTGGAGGGGCCGTCAAT 0.617000 OREG0003592 type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 26 10 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77775547 77775547 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:77775547G>A ENST00000521891.2 + 11 10045 c.9597G>A c.(9595-9597)gtG>gtA p.V3199V ZFHX4_ENST00000455469.2_Silent_p.V3154V|ZFHX4_ENST00000518282.1_Silent_p.V3173V|ZFHX4_ENST00000050961.6_Silent_p.V3150V NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3150 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAAACAAGGTGAAAAAAATCA 0.448000 HNSCC(33;0.089) 30 48 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108469040 108469040 + Missense_Mutation SNP A A C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:108469040A>C ENST00000263054.6 - 7 1091 c.1084T>G c.(1084-1086)Ttt>Gtt p.F362V SORCS1_ENST00000344440.6_Missense_Mutation_p.F362V NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 362 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TAGCCTGGAAAAGGCTGATTC 0.398000 31 61 0 0 1 0 0 OR51B2 79345 broad.mit.edu 37 11 5345472 5345472 + Missense_Mutation SNP T T C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:5345472T>C ENST00000328813.2 - 1 110 c.56A>G c.(55-57)gAg>gGg p.E19G HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_033180.4 NP_149420.4 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, member 2 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATGAGCTGCCTCCAGCCCTGG 0.488000 OREG0003719 type=REGULATORY REGION|Gene=OR51B2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 28 41 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49934757 49934757 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:49934757G>A ENST00000296474.3 - 7 2166 c.2139C>T c.(2137-2139)acC>acT p.T713T MST1R_ENST00000344206.4_Silent_p.T713T NM_002447.2 NP_002438.2 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 713 IPT/TIG 2. 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) CAGCCCGGCTGGTGCCTACAG 0.612000 46 74 0 0 1 0 0 FCN1 2219 broad.mit.edu 37 9 137803047 137803047 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:137803047G>A ENST00000371806.3 - 8 756 c.665C>T c.(664-666)tCa>tTa p.S222L NM_002003.3 NP_001994.2 O00602 FCN1_HUMAN ficolin (collagen/fibrinogen domain containing) 1 222 Fibrinogen C-terminal. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) CACCTTGAATGATTTGTACTT 0.542000 133 219 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21462822 21462822 + Nonsense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:21462822G>A ENST00000281523.2 - 8 1590 c.1072C>T c.(1072-1074)Cga>Tga p.R358* NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 358 nucleus nucleic acid binding|zinc ion binding p.R358*(1) NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 GGAGCAGTTCGAAGACTGAAG 0.582000 20 26 0 0 1 0 0 MARCH4 57574 broad.mit.edu 37 2 217142480 217142480 + Silent SNP G G A rs139354980 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:217142480G>A ENST00000273067.4 - 3 2546 c.780C>T c.(778-780)ttC>ttT p.F260F NM_020814.2 NP_065865.1 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase 260 Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network ubiquitin-protein ligase activity|zinc ion binding breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) CCGAGGGGCTGAAAGTTGACC 0.557000 77 102 0 0 1 0 0 TMPRSS7 344805 broad.mit.edu 37 3 111797602 111797602 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:111797602C>T ENST00000452346.2 + 17 2241 c.2238C>T c.(2236-2238)tcC>tcT p.S746S TMPRSS7_ENST00000419127.1_Silent_p.S620S Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 746 Peptidase S1. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 ATAAAGGCTCCCTCGTTCTGC 0.433000 39 68 0 0 1 0 0 RAB3D 9545 broad.mit.edu 37 19 11447877 11447877 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:11447877G>A ENST00000222120.3 - 2 459 c.199C>T c.(199-201)Cat>Tat p.H67Y RAB3D_ENST00000589655.1_Missense_Mutation_p.H67Y NM_004283.3 NP_004274.1 O95716 RAB3D_HUMAN RAB3D, member RAS oncogene family 67 exocytosis|protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2) 14 CTCTTGTCATGGCGGTAGACG 0.562000 146 245 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80256719 80256719 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:80256719C>T ENST00000265080.4 + 1 229 c.162C>T c.(160-162)ttC>ttT p.F54F CTC-459I6.1_ENST00000505694.1_RNA NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 54 PH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TCTTCTACTTCGAGGGCGAGC 0.687000 24 42 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72127916 72127916 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:72127916C>T ENST00000340726.3 - 15 2047 c.1408G>A c.(1408-1410)Gaa>Aaa p.E470K EYA1_ENST00000419131.1_Missense_Mutation_p.E435K|EYA1_ENST00000303824.7_Missense_Mutation_p.E464K|EYA1_ENST00000388740.3_Missense_Mutation_p.E437K|EYA1_ENST00000388742.4_Missense_Mutation_p.E470K|EYA1_ENST00000388743.2_Missense_Mutation_p.E469K|EYA1_ENST00000388741.2_Missense_Mutation_p.E436K NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 470 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) GCTTCAATTTCGGCCCTCAAC 0.527000 45 58 0 0 1 0 0 CASP1 834 broad.mit.edu 37 11 104896997 104896997 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:104896997G>A ENST00000533400.1 - 9 1238 c.1203C>T c.(1201-1203)ttC>ttT p.F401F CASP1_ENST00000598974.1_Silent_p.F401F|CASP1_ENST00000594519.1_Silent_p.F260F|CASP1_ENST00000593315.1_Silent_p.F380F|CASP1_ENST00000534497.1_Silent_p.F260F|CASP1_ENST00000353247.5_Silent_p.F85F|CASP1_ENST00000531166.1_Silent_p.F85F|CASP1_ENST00000527979.1_Silent_p.F364F|CASP1_ENST00000525825.1_Silent_p.F380F|CASP1_ENST00000526568.1_Silent_p.F308F|CASP1_ENST00000446369.1_Silent_p.F260F|CASP1_ENST00000436863.3_Silent_p.F401F|CASP1_ENST00000415981.2_Silent_p.F85F|CASP1_ENST00000393136.4_Silent_p.F380F NM_001257118.1 NP_001244047.1 P29466 CASP1_HUMAN caspase 1, apoptosis-related cysteine peptidase 401 cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) AATGTCCTGGGAAGAGGTAGA 0.453000 36 51 0 0 1 0 0 SLC39A13 91252 broad.mit.edu 37 11 47431683 47431683 + Missense_Mutation SNP G G A rs148165667 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:47431683G>A ENST00000524928.1 + 1 48 c.38G>A c.(37-39)gGc>gAc p.G13D SLC39A13_ENST00000531974.1_Missense_Mutation_p.G13D|SLC39A13_ENST00000362021.4_Missense_Mutation_p.G13D|SLC39A13_ENST00000354884.4_Missense_Mutation_p.G13D|SLC39A13_ENST00000533076.1_Missense_Mutation_p.G13D Q96H72 S39AD_HUMAN solute carrier family 39 (zinc transporter), member 13 13 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|kidney(1)|lung(1)|prostate(1) 4 Lung(87;0.0936) GGCATGGCGGGCCCAAGGCTC 0.642000 66 96 0 0 1 0 0 MAP4K4 9448 broad.mit.edu 37 2 102490116 102490116 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:102490116C>T ENST00000413150.2 + 21 2325 c.2270C>T c.(2269-2271)tCc>tTc p.S757F MAP4K4_ENST00000456652.1_Missense_Mutation_p.S641F|MAP4K4_ENST00000347699.4_Missense_Mutation_p.S842F|MAP4K4_ENST00000350198.4_Missense_Mutation_p.S761F|MAP4K4_ENST00000324219.4_Missense_Mutation_p.S923F|MAP4K4_ENST00000350878.4_Missense_Mutation_p.S882F|MAP4K4_ENST00000302217.5_Missense_Mutation_p.S645F|MAP4K4_ENST00000425019.1_Missense_Mutation_p.S875F NM_001242560.1|NM_004834.4 NP_001229489.1|NP_004825.3 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 842 intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CAGACTCAGTCCGCTAGTAGC 0.348000 8 13 0 0 1 0 0 ARNTL2 56938 broad.mit.edu 37 12 27554551 27554551 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:27554551C>T ENST00000544915.1 + 11 1479 c.1260C>T c.(1258-1260)ttC>ttT p.F420F ARNTL2_ENST00000546179.1_Silent_p.F417F|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000266503.5_Silent_p.F454F|ARNTL2_ENST00000395901.2_Silent_p.F417F|ARNTL2_ENST00000542388.1_Silent_p.F369F|ARNTL2_ENST00000261178.5_Silent_p.F406F|ARNTL2_ENST00000311001.5_Silent_p.F440F NM_020183.4 NP_064568.3 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear translocator-like 2 454 PAS 2. circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 21 Colorectal(261;0.0847)|Lung SC(9;0.184) GGTTTAGTTTCACAAATCCTT 0.294000 31 36 0 0 1 0 0 ZFP2 80108 broad.mit.edu 37 5 178358896 178358896 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:178358896C>T ENST00000361362.2 + 5 1112 c.582C>T c.(580-582)gcC>gcT p.A194A ZFP2_ENST00000523286.1_Silent_p.A194A|ZFP2_ENST00000503510.2_Silent_p.A194A|ZFP2_ENST00000520301.1_Silent_p.A194A NM_030613.2 NP_085116.2 Q6ZN57 ZFP2_HUMAN ZFP2 zinc finger protein 194 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 20 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) GTGGCAAAGCCTTCCATAAGA 0.403000 30 49 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15853535 15853535 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr16:15853535G>A ENST00000338282.6 - 12 1405 c.1299C>T c.(1297-1299)ttC>ttT p.F433F MYH11_ENST00000576790.1_Silent_p.F433F|MYH11_ENST00000452625.2_Silent_p.F440F|MYH11_ENST00000396324.3_Silent_p.F440F|MYH11_ENST00000300036.5_Silent_p.F433F NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 433 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GTATCCAGCGGAAAAGGCGCT 0.537000 T CBFB AML 46 78 0 0 1 0 0 WDR5 11091 broad.mit.edu 37 9 137013422 137013422 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:137013422C>T ENST00000358625.3 + 8 712 c.541C>T c.(541-543)Cgt>Tgt p.R181C WDR5_ENST00000425041.1_Missense_Mutation_p.R181C NM_017588.2 NP_060058.1 P61964 WDR5_HUMAN WD repeat domain 5 181 histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 9 Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123) Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154) TCATTTTAATCGTGATGGATC 0.373000 48 102 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139163629 139163629 + Missense_Mutation SNP A A G TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:139163629A>G ENST00000395297.1 - 13 3259 c.3089T>C c.(3088-3090)gTt>gCt p.V1030A NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1030 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TAAGTTCACAACCTCCACAGC 0.527000 HNSCC(54;0.14) 24 71 0 0 1 0 0 CDA 978 broad.mit.edu 37 1 20931479 20931479 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:20931479C>T ENST00000375071.3 + 2 395 c.213C>T c.(211-213)atC>atT p.I71I CDA_ENST00000461985.1_3'UTR NM_001785.2 NP_001776.1 P32320 CDD_HUMAN cytidine deaminase 71 cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage cytosol|extracellular region cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 7 Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199) Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441) GGACCGCTATCCAGAAGGCCG 0.512000 10 22 0 0 1 0 0 E2F7 144455 broad.mit.edu 37 12 77417947 77417947 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:77417947G>A ENST00000322886.7 - 13 2819 c.2584C>T c.(2584-2586)Ccc>Tcc p.P862S E2F7_ENST00000416496.2_Missense_Mutation_p.P720L NM_203394.2 NP_976328.2 Q96AV8 E2F7_HUMAN E2F transcription factor 7 862 cell cycle transcription factor complex DNA binding|identical protein binding central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2) 42 ATGCTCTTGGGGGTCACTGGA 0.458000 29 51 0 0 1 0 0 KCNC1 3746 broad.mit.edu 37 11 17793721 17793721 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:17793721C>T ENST00000379472.3 + 2 1110 c.1080C>T c.(1078-1080)gcC>gcT p.A360A KCNC1_ENST00000265969.6_Silent_p.A360A NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 360 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 TGATCTTCGCCACCATGATCT 0.607000 38 48 0 0 1 0 0 UBR3 130507 broad.mit.edu 37 2 170917670 170917670 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:170917670G>A ENST00000272793.5 + 34 4917 c.4867G>A c.(4867-4869)Gaa>Aaa p.E1623K UBR3_ENST00000418381.1_Missense_Mutation_p.E1623K|UBR3_ENST00000392631.1_Missense_Mutation_p.E444K Q6ZT12 UBR3_HUMAN ubiquitin protein ligase E3 component n-recognin 3 (putative) 1623 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1) 33 GTTATACCATGAAGAAGGAAC 0.299000 33 75 0 0 1 0 0 FAM120A 23196 broad.mit.edu 37 9 96291710 96291710 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:96291710C>T ENST00000277165.6 + 9 1776 c.1582C>T c.(1582-1584)Cca>Tca p.P528S FAM120A_ENST00000340893.4_Missense_Mutation_p.P528S|FAM120A_ENST00000375389.3_Missense_Mutation_p.P528S|FAM120A_ENST00000333936.5_Missense_Mutation_p.P556S NM_014612.3 NP_055427.2 Q9NZB2 F120A_HUMAN family with sequence similarity 120A 528 cytoplasm|plasma membrane RNA binding endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CACTGTCCAGCCAATCCCGTG 0.622000 15 54 0 0 1 0 0 FAM193A 8603 broad.mit.edu 37 4 2702161 2702161 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:2702161C>T ENST00000324666.5 + 17 3740 c.3389C>T c.(3388-3390)cCc>cTc p.P1130L FAM193A_ENST00000502458.1_Missense_Mutation_p.P1152L|FAM193A_ENST00000505311.1_Missense_Mutation_p.P1130L|FAM193A_ENST00000382839.3_Missense_Mutation_p.P1130L|FAM193A_ENST00000545951.1_Missense_Mutation_p.P1130L NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 1130 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 CCCACCTCTCCCGGTGAGCAT 0.473000 27 52 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19474632 19474632 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr16:19474632G>A ENST00000396229.2 + 7 1928 c.1179G>A c.(1177-1179)caG>caA p.Q393Q TMC5_ENST00000542583.2_Silent_p.Q393Q|TMC5_ENST00000564959.1_Silent_p.Q76Q|TMC5_ENST00000541464.1_Silent_p.Q393Q|TMC5_ENST00000561503.1_Silent_p.Q34Q|TMC5_ENST00000219821.5_Silent_p.Q147Q|TMC5_ENST00000381414.4_Silent_p.Q393Q NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 393 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 AAAGCAAACAGACCCATCGTA 0.393000 68 64 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44672328 44672328 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr20:44672328C>T ENST00000454036.1 + 10 1439 c.1363C>T c.(1363-1365)Ccc>Tcc p.P455S SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.P432S NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 455 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GAAGTCAATCCCCACTGGCAC 0.617000 49 99 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61829912 61829912 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:61829912G>A ENST00000280772.1 - 37 10918 c.10727C>T c.(10726-10728)cCa>cTa p.P3576L ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3576 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GGTTGTTGCTGGAGAGCGGTC 0.478000 40 58 0 0 1 0 0 DLST 1743 broad.mit.edu 37 14 75359558 75359558 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:75359558C>T ENST00000334220.4 + 8 525 c.464C>T c.(463-465)cCg>cTg p.P155L DLST_ENST00000334212.6_Missense_Mutation_p.P69L|DLST_ENST00000555190.1_3'UTR NM_001933.4 NP_001924.2 P36957 ODO2_HUMAN dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) 155 lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus dihydrolipoyllysine-residue succinyltransferase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(234;0.00698) AAGGCCAAGCCGGCTGAAGCT 0.537000 39 61 0 0 1 0 0 CNTD2 79935 broad.mit.edu 37 19 40732318 40732318 + Silent SNP T T C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:40732318T>C ENST00000430325.2 - 1 279 c.231A>G c.(229-231)gaA>gaG p.E77E CNTD2_ENST00000433940.1_Silent_p.E77E NM_024877.3 NP_079153.2 B4DX65 B4DX65_HUMAN cyclin N-terminal domain containing 2 77 regulation of cyclin-dependent protein kinase activity protein kinase binding lung(1)|prostate(1) 2 CGTACTCGCGTTCTCCCTGCA 0.741000 8 31 0 0 1 0 0 REG3G 130120 broad.mit.edu 37 2 79254180 79254180 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:79254180C>T ENST00000272324.5 + 4 400 c.216C>T c.(214-216)ccC>ccT p.P72P REG3G_ENST00000393897.2_Silent_p.P72P|REG3G_ENST00000409471.1_Intron NM_001008387.2 NP_001008388.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma 72 C-type lectin. acute-phase response extracellular region sugar binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 AGAAGCGGCCCTCTGGAAAAC 0.562000 52 150 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3351157 3351157 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:3351157G>A ENST00000602557.1 - 12 1994 c.1439C>T c.(1438-1440)tCg>tTg p.S480L CSMD1_ENST00000539096.1_Missense_Mutation_p.S479L|CSMD1_ENST00000537824.1_Missense_Mutation_p.S479L|CSMD1_ENST00000520002.1_Missense_Mutation_p.S480L|CSMD1_ENST00000602723.1_Missense_Mutation_p.S480L|CSMD1_ENST00000400186.3_Missense_Mutation_p.S480L|CSMD1_ENST00000542608.1_Missense_Mutation_p.S479L Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 480 CUB 3. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTACAAGACCGATCTGGTGTC 0.507000 6 7 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24193193 24193193 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:24193193G>A ENST00000437154.2 + 14 1645 c.1606G>A c.(1606-1608)Gaa>Aaa p.E536K RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.E303K|ADAM28_ENST00000265769.4_Intron|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Intron|RP11-624C23.1_ENST00000518988.1_RNA NM_021777.3 NP_068547.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 0 Cys-rich. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) ATGTGCGAAGGAAAATCATTT 0.473000 5 6 0 0 1 0 0 IGHV6-1 28385 broad.mit.edu 37 14 106406033 106406033 + RNA SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:106406033G>A ENST00000390593.2 - 0 75 GCACGGGCAGGAAGATGAGGA 0.557000 17 34 0 0 1 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55285036 55285036 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:55285036C>T ENST00000336077.6 + 3 362 c.322C>T c.(322-324)Ccc>Tcc p.P108S CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.P108S|KIR2DL3_ENST00000434419.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron NM_014218.2 NP_055033.2 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 108 immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity p.P108>?(1) breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) TACTCACTCCCCCTATCAGGT 0.517000 161 342 0 0 1 0 0 METTL14 57721 broad.mit.edu 37 4 119613141 119613141 + Silent SNP A A T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:119613141A>T ENST00000388822.4 + 5 497 c.330A>T c.(328-330)acA>acT p.T110T METTL14_ENST00000506780.1_Silent_p.T72T Q9HCE5 MTL14_HUMAN methyltransferase like 14 110 nucleus mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1) 16 TTTAGGGAACACAGAGCTTAA 0.328000 42 92 0 0 1 0 0 NCR3 259197 broad.mit.edu 37 6 31557875 31557875 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:31557875G>A ENST00000376073.4 - 2 335 c.72C>T c.(70-72)ccC>ccT p.P24P NCR3_ENST00000376071.4_Silent_p.P24P|NCR3_ENST00000376072.3_Silent_p.P24P|NCR3_ENST00000340027.5_Silent_p.P24P|NCR3_ENST00000491161.1_5'UTR NM_001145466.1 NP_001138938.1 O14931 NCTR3_HUMAN natural cytotoxicity triggering receptor 3 24 Ig-like. cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity integral to plasma membrane receptor activity cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2) 9 GAATCTCAGGGGGCTGGGACA 0.572000 26 23 0 0 1 0 0 C14orf39 317761 broad.mit.edu 37 14 60938167 60938167 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:60938167G>A ENST00000321731.3 - 7 681 c.522C>T c.(520-522)ccC>ccT p.P174P NM_174978.2 NP_777638.2 Q08AQ4 Q08AQ4_HUMAN chromosome 14 open reading frame 39 174 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) GTGATGGAAAGGGAGCAGGCA 0.234000 10 24 0 0 1 0 0 SPATA7 55812 broad.mit.edu 37 14 88892794 88892794 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:88892794C>T ENST00000556553.1 + 6 1054 c.495C>T c.(493-495)gcC>gcT p.A165A SPATA7_ENST00000356583.5_Silent_p.A165A|SPATA7_ENST00000045347.7_Silent_p.A197A|SPATA7_ENST00000393545.4_Silent_p.A197A Q9P0W8 SPAT7_HUMAN spermatogenesis associated 7 197 S -> N (in dbSNP:rs17124662). response to stimulus|visual perception cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 18 GCTCTGGAGCCCTGTATGGCA 0.517000 59 76 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73747167 73747167 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:73747167C>T ENST00000200181.3 + 30 3955 c.3768C>T c.(3766-3768)tgC>tgT p.C1256C ITGB4_ENST00000339591.3_Silent_p.C1256C|ITGB4_ENST00000579662.1_Silent_p.C1256C|ITGB4_ENST00000450894.3_Silent_p.C1256C|ITGB4_ENST00000449880.2_Silent_p.C1256C NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 1256 Fibronectin type-III 2. 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) ACGAGGTCTGCTATGGCCTGG 0.597000 45 65 0 0 1 0 0 STRC 161497 broad.mit.edu 37 15 43893731 43893731 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr15:43893731C>T ENST00000450892.2 - 24 4641 c.4564G>A c.(4564-4566)Gga>Aga p.G1522R STRC_ENST00000541030.1_Missense_Mutation_p.G749R NM_153700.2 NP_714544.1 Q7RTU9 STRC_HUMAN stereocilin 1522 sensory perception of sound cell surface 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) GGACGAAATCCCCGGGGGGGA 0.532000 27 63 0 0 1 0 0 NPY1R 4886 broad.mit.edu 37 4 164247557 164247557 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:164247557C>T ENST00000296533.2 - 2 681 c.150G>A c.(148-150)gtG>gtA p.V50V NPY1R_ENST00000509586.1_Intron NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 50 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding 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) CAAGAATGATCACAGCTCCAT 0.408000 46 81 0 0 1 0 0 C12orf50 160419 broad.mit.edu 37 12 88380192 88380192 + Splice_Site SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:88380192C>T ENST00000298699.2 - 10 999 c.817_splice c.e10-1 p.M273_splice C12orf50_ENST00000550553.1_Splice_Site_p.V234_splice NM_152589.1 NP_689802.1 Q8NA57 CL050_HUMAN chromosome 12 open reading frame 50 273 NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 GGACATCATTCACTTAGAAAA 0.338000 23 33 0 0 1 0 0 SATB1 6304 broad.mit.edu 37 3 18393501 18393501 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:18393501G>A ENST00000338745.6 - 10 3496 c.1762C>T c.(1762-1764)Cca>Tca p.P588S SATB1_ENST00000417717.2_Missense_Mutation_p.P588S|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.P588S NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 588 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 TGCTCTGCTGGAACATGGATA 0.463000 41 93 0 0 1 0 0 PLXNA2 5362 broad.mit.edu 37 1 208391105 208391105 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:208391105C>T ENST00000367033.3 - 2 920 c.163G>A c.(163-165)Gtc>Atc p.V55I NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 55 Sema. axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) CCTTGGTGGACGGTCAAGTGG 0.607000 65 192 0 0 1 0 0 TRBV6-5 28602 broad.mit.edu 37 7 142180968 142180968 + RNA SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:142180968G>A ENST00000390368.2 - 0 48 GCTGCATGACGGAGGGGTCTT 0.582000 13 35 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95570079 95570079 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:95570079G>A ENST00000526495.1 - 23 3945 c.3654C>T c.(3652-3654)tcC>tcT p.S1218S DICER1_ENST00000541352.1_Silent_p.S1218S|DICER1_ENST00000393063.1_Silent_p.S1218S|DICER1_ENST00000556045.1_Silent_p.S116S|DICER1_ENST00000527414.1_Silent_p.S1218S|DICER1_ENST00000343455.3_Silent_p.S1218S Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1218 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) AATTCTGAATGGAATATGAGG 0.403000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 58 107 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37442503 37442503 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:37442503C>T ENST00000374660.1 + 13 1642 c.1543C>T c.(1543-1545)Ctc>Ttc p.L515F ANKRD30A_ENST00000361713.1_Missense_Mutation_p.L515F|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.L515F Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 571 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TTAACAGAGTCTCTGTGAGAC 0.279000 24 218 0 0 1 0 0 TMEM131 23505 broad.mit.edu 37 2 98377303 98377303 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:98377303C>T ENST00000186436.5 - 37 5192 c.4964G>A c.(4963-4965)gGc>gAc p.G1655D NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1655 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 AGTGGGGTTGCCGTTCTTGCC 0.537000 4 108 0 0 1 0 0 OR5AU1 390445 broad.mit.edu 37 14 21624050 21624050 + Silent SNP G G A rs143241393 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:21624050G>A ENST00000304418.3 - 1 172 c.135C>T c.(133-135)atC>atT p.I45I NM_001004731.1 NP_001004731.1 Q8NGC0 O5AU1_HUMAN olfactory receptor, family 5, subfamily AU, member 1 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1) 21 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) AGTGCTCTGCGATGGAGAAAG 0.527000 57 80 0 0 1 0 0 SCARNA2 677766 broad.mit.edu 37 1 109643058 109643058 + RNA SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:109643058C>T ENST00000458748.1 + 0 244 NR_003023.1 AGCTCTCCTCCTGCGAAGCCC 0.706000 15 38 0 0 1 0 0 ENTHD1 150350 broad.mit.edu 37 22 40283440 40283440 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr22:40283440C>T ENST00000325157.6 - 2 563 c.313G>A c.(313-315)Gat>Aat p.D105N NM_152512.3 NP_689725.2 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 105 ENTH. breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) TGCTGAAAATCTTTTAGTGTT 0.393000 63 96 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55542280 55542280 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:55542280C>T ENST00000220676.1 + 4 5986 c.5838C>T c.(5836-5838)ttC>ttT p.F1946F NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1946 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) TTGAAAATTTCTTGGGTTTTT 0.343000 44 76 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25339112 25339112 + RNA SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr15:25339112C>T ENST00000546682.1 + 0 1101 SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA NR_003361.1 CTGGTGGATCCCTCAGGATGG 0.473000 23 33 0 0 1 0 0 APOBEC3B 9582 broad.mit.edu 37 22 39380174 39380174 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr22:39380174G>A ENST00000402182.3 + 2 167 c.112G>A c.(112-114)Gaa>Aaa p.E38K APOBEC3B_ENST00000407298.3_Missense_Mutation_p.E38K|APOBEC3B_ENST00000333467.3_Missense_Mutation_p.E38K Q9UH17 ABC3B_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B 38 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 13 Melanoma(58;0.04) GCTGTGCTATGAAGTGAAAAT 0.488000 34 60 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89949267 89949267 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:89949267C>T ENST00000405460.2 + 20 3972 c.3876C>T c.(3874-3876)ttC>ttT p.F1292F NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1292 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 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) CCAGTGAGTTCCCTGCTGGTT 0.468000 21 35 0 0 1 0 0 CCDC147 159686 broad.mit.edu 37 10 106121864 106121864 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:106121864G>A ENST00000369704.3 + 3 509 c.375G>A c.(373-375)gaG>gaA p.E125E CCDC147_ENST00000312902.5_5'UTR NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 125 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) CTCTGAAAGAGGAAATAGTGA 0.468000 21 22 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166179959 166179959 + Silent SNP C C A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:166179959C>A ENST00000357398.3 + 12 2255 c.1965C>A c.(1963-1965)tcC>tcA p.S655S SCN2A_ENST00000283256.6_Silent_p.S655S|SCN2A_ENST00000375427.2_Silent_p.S655S|SCN2A_ENST00000375437.2_Silent_p.S655S Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 655 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) GTGTGGTCTCCCTGGTCGGGG 0.577000 22 20 0.00229938 0.00230814 1 1 0 C14orf39 317761 broad.mit.edu 37 14 60938168 60938168 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:60938168G>A ENST00000321731.3 - 7 680 c.521C>T c.(520-522)cCc>cTc p.P174L NM_174978.2 NP_777638.2 Q08AQ4 Q08AQ4_HUMAN chromosome 14 open reading frame 39 174 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) TGATGGAAAGGGAGCAGGCAC 0.229000 10 24 0 0 1 0 0 MTHFD2P1 100287639 broad.mit.edu 37 3 95374370 95374370 + RNA SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:95374370C>T ENST00000494840.1 - 0 1491 NR_077228.1 CAAACACTTTCGTCCTACATT 0.453000 32 64 0 0 1 0 0 SOX10 6663 broad.mit.edu 37 22 38369841 38369841 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr22:38369841G>A ENST00000396884.2 - 4 1344 c.1062C>T c.(1060-1062)gcC>gcT p.A354A SOX10_ENST00000360880.2_Silent_p.A354A|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000407936.1_Intron NM_006941.3 NP_008872.1 P56693 SOX10_HUMAN SRY (sex determining region Y)-box 10 354 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2) 20 Melanoma(58;0.045) TCTTCACCTGGGCTTTGGCAT 0.672000 27 34 0 0 1 0 0 SPAM1 6677 broad.mit.edu 37 7 123593968 123593968 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:123593968C>T ENST00000340011.5 + 3 701 c.344C>T c.(343-345)cCc>cTc p.P115L SPAM1_ENST00000402183.2_Missense_Mutation_p.P115L|SPAM1_ENST00000223028.7_Missense_Mutation_p.P115L|SPAM1_ENST00000439500.1_Missense_Mutation_p.P115L|SPAM1_ENST00000460182.1_Missense_Mutation_p.P115L NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 115 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) GGAGGAATCCCCCAGAAGATT 0.398000 47 85 0 0 1 0 0 MPP7 143098 broad.mit.edu 37 10 28409178 28409178 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:28409178C>T ENST00000337532.5 - 11 1108 c.832G>A c.(832-834)Gaa>Aaa p.E278K MPP7_ENST00000375732.1_Missense_Mutation_p.E278K|MPP7_ENST00000445954.2_Missense_Mutation_p.E153K|MPP7_ENST00000540098.1_Missense_Mutation_p.E278K|MPP7_ENST00000375719.3_Missense_Mutation_p.E278K NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 278 SH3. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 GCATCAGCTTCGTGTTTCGCT 0.463000 45 58 0 0 1 0 0 WNT3A 89780 broad.mit.edu 37 1 228246797 228246797 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:228246797C>T ENST00000284523.1 + 4 768 c.690C>T c.(688-690)ttC>ttT p.F230F WNT3A_ENST00000366753.2_Silent_p.F230F NM_033131.3 NP_149122.1 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, member 3A 230 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) TCGGTGACTTCCTCAAGGACA 0.642000 61 38 0 0 1 0 0 SLC26A5 375611 broad.mit.edu 37 7 103018164 103018164 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:103018164C>T ENST00000306312.3 - 18 2129 c.1868G>A c.(1867-1869)aGc>aAc p.S623N SLC26A5_ENST00000354356.4_Missense_Mutation_p.S56N|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393729.1_Missense_Mutation_p.S586N|SLC26A5_ENST00000339444.6_Missense_Mutation_p.S623N|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393727.1_Missense_Mutation_p.S625N|SLC26A5_ENST00000393723.1_Missense_Mutation_p.S593N|SLC26A5_ENST00000393730.1_Missense_Mutation_p.S591N|SLC26A5_ENST00000432958.2_Missense_Mutation_p.S591N NM_198999.2 NP_945350.1 P58743 S26A5_HUMAN solute carrier family 26 (anion exchanger), member 5 623 STAS. regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 AGGAAATGTGCTTTTGATCAC 0.403000 47 81 0 0 1 0 0 SMR3B 10879 broad.mit.edu 37 4 71255422 71255422 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:71255422G>A ENST00000304915.3 + 3 246 c.97G>A c.(97-99)Gga>Aga p.G33R SMR3B_ENST00000504825.1_Missense_Mutation_p.G33R NM_006685.3 NP_006676.1 submaxillary gland androgen regulated protein 3B large_intestine(2)|lung(3)|skin(2) 7 all_hematologic(202;0.196) ATATCCACCTGGACCGCTGGC 0.512000 54 83 0 0 1 0 0 TRIM29 23650 broad.mit.edu 37 11 120008249 120008249 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:120008249G>A ENST00000341846.5 - 1 912 c.491C>T c.(490-492)tCc>tTc p.S164F NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 164 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) GCCGGACTTGGACCGTGAAAA 0.647000 64 87 0 0 1 0 0 OR8B2 26595 broad.mit.edu 37 11 124253104 124253104 + Missense_Mutation SNP T T C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:124253104T>C ENST00000375013.2 - 1 154 c.136A>G c.(136-138)Atc>Gtc p.I46V NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 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;0.0277) AAAAGAGTGATCAAGCCAAGG 0.428000 58 147 0 0 1 0 0 PMS2CL 441194 broad.mit.edu 37 7 6776901 6776901 + RNA SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:6776901C>T ENST00000486256.1 + 0 1028 NR_002217.1 AAGGAGCCCTCTAGGACAGAA 0.522000 33 49 0 0 1 0 0 CSTF2T 23283 broad.mit.edu 37 10 53459239 53459239 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:53459239G>A ENST00000331173.4 - 1 116 c.71C>T c.(70-72)cCa>cTa p.P24L PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Intron NM_015235.2 NP_056050.1 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant 24 RRM. mRNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) TGCCTCATATGGAATGTTCCC 0.522000 100 168 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45833861 45833861 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr21:45833861G>A ENST00000397928.1 + 20 3495 c.3050G>A c.(3049-3051)aGg>aAg p.R1017K TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.R997K|TRPM2_ENST00000397932.2_Missense_Mutation_p.R1017K|TRPM2_ENST00000300482.5_Missense_Mutation_p.R1017K NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1017 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 ACGCAGCAGAGGCCGGCCTTC 0.607000 207 333 0 0 1 0 0 UXS1 80146 broad.mit.edu 37 2 106710531 106710531 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:106710531G>A ENST00000283148.7 - 15 1326 c.1229C>T c.(1228-1230)cCc>cTc p.P410L UXS1_ENST00000409032.1_Missense_Mutation_p.P237L|UXS1_ENST00000540130.1_Missense_Mutation_p.P348L|UXS1_ENST00000409501.3_Missense_Mutation_p.P405L NM_001253875.1|NM_025076.4 NP_001240804.1|NP_079352.2 Q8NBZ7 UXS1_HUMAN UDP-glucuronate decarboxylase 1 405 cellular metabolic process Golgi cisterna membrane|integral to membrane coenzyme binding|UDP-glucuronate decarboxylase activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2) 17 CTTTGGTTTGGGGATGTACTG 0.448000 28 48 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24762478 24762478 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:24762478G>A ENST00000376451.2 + 2 582 c.322G>A c.(322-324)Gag>Aag p.E108K KIAA1217_ENST00000430453.2_Missense_Mutation_p.E311K|KIAA1217_ENST00000376454.3_Missense_Mutation_p.E390K|KIAA1217_ENST00000376462.1_Missense_Mutation_p.E310K|KIAA1217_ENST00000458595.1_Missense_Mutation_p.E390K|KIAA1217_ENST00000396446.1_Missense_Mutation_p.E108K|KIAA1217_ENST00000307544.6_Missense_Mutation_p.E108K|KIAA1217_ENST00000396445.1_Missense_Mutation_p.E108K|KIAA1217_ENST00000376452.3_Missense_Mutation_p.E390K Q5T5P2 SKT_HUMAN KIAA1217 390 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GTACAGAAATGAGGGTTTCTA 0.488000 62 107 0 0 1 0 0 OR10G8 219869 broad.mit.edu 37 11 123900690 123900690 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:123900690C>T ENST00000431524.1 + 1 394 c.361C>T c.(361-363)Cgc>Tgc p.R121C NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) GTCCTGTGATCGCTACCTGGC 0.562000 76 132 0 0 1 0 0 HSP90AB2P 391634 broad.mit.edu 37 4 13338795 13338795 + RNA SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:13338795G>A ENST00000602906.1 + 0 583 kidney(3)|lung(1) 4 TAAGGCagaggaagagaaagg 0.433000 9 12 0 0 1 0 0 DNMBP 23268 broad.mit.edu 37 10 101659801 101659801 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:101659801C>T ENST00000342239.3 - 7 2668 c.2577G>A c.(2575-2577)cgG>cgA p.R859R DNMBP_ENST00000543621.1_Silent_p.R105R|DNMBP_ENST00000324109.4_Silent_p.R859R Q6XZF7 DNMBP_HUMAN dynamin binding protein 859 DH. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) CAAGCTCATCCCGGTGACCAA 0.413000 52 79 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154396841 154396841 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:154396841C>T ENST00000435029.4 + 1 3582 c.3422C>T c.(3421-3423)tCc>tTc p.S1141F NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 1141 Globular (By similarity).|Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TCCGAAGGCTCCTTCAAACTG 0.537000 38 52 0 0 1 0 0 PRKAA2 5563 broad.mit.edu 37 1 57170069 57170069 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:57170069G>A ENST00000371244.4 + 7 1280 c.1214G>A c.(1213-1215)gGa>gAa p.G405E NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 405 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 TGGCATCTTGGAATCCGAAGT 0.418000 38 60 0 0 1 0 0 SETD3 84193 broad.mit.edu 37 14 99866533 99866533 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:99866533G>A ENST00000331768.5 - 12 1400 c.1241C>T c.(1240-1242)tCg>tTg p.S414L NM_032233.2 NP_115609.2 Q86TU7 SETD3_HUMAN SET domain containing 3 414 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866) AGGAAATTCCGAGTTCCCCAA 0.388000 59 80 0 0 1 0 0 HEATR2 54919 broad.mit.edu 37 7 813731 813731 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:813731C>T ENST00000297440.6 + 10 1998 c.1978C>T c.(1978-1980)Ccc>Tcc p.P660S HEATR2_ENST00000313147.5_Missense_Mutation_p.P660S|HEATR2_ENST00000403952.3_Missense_Mutation_p.P85S NM_017802.3 NP_060272.3 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 660 protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) CATCCTGGCCCCCAATCTGCA 0.652000 58 110 0 0 1 0 0 CRHBP 1393 broad.mit.edu 37 5 76259219 76259219 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:76259219G>A ENST00000274368.4 + 6 1167 c.745G>A c.(745-747)Gga>Aga p.G249R CRHBP_ENST00000514258.1_3'UTR NM_001882.3 NP_001873.2 P24387 CRHBP_HUMAN corticotropin releasing hormone binding protein 249 female pregnancy|learning or memory|signal transduction soluble fraction kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41) GCTGCTGGGAGGAACTGGATT 0.463000 70 133 0 0 1 0 0 ZNF253 56242 broad.mit.edu 37 19 19990950 19990950 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:19990950C>T ENST00000589717.1 + 3 313 c.221C>T c.(220-222)cCc>cTc p.P74L ZNF253_ENST00000355650.4_Intron NM_021047.2 NP_066385.2 O75346 ZN253_HUMAN zinc finger protein 253 74 KRAB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ATTGCCAAACCCCCAGGTAGG 0.398000 34 73 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6174305 6174305 + Nonsense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:6174305G>A ENST00000261405.5 - 11 1545 c.1291C>T c.(1291-1293)Cag>Tag p.Q431* NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 431 VWFD 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) AAGCTCACCTGGACAGTCTCA 0.587000 21 33 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88767442 88767442 + RNA SNP T T C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:88767442T>C ENST00000444431.1 + 0 2690 RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding CCATACTTGATGAACAGTTAT 0.303000 66 142 0 0 1 0 0 SPON1 10418 broad.mit.edu 37 11 14282274 14282274 + RNA SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:14282274G>A ENST00000310358.7 + 0 2507 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GGAGCAGGTGGAGAAGTGCAT 0.577000 22 51 0 0 1 0 0 AMER1 139285 broad.mit.edu 37 X 63412632 63412632 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chrX:63412632G>A ENST00000330258.3 - 2 807 c.535C>T c.(535-537)Cac>Tac p.H179Y AMER1_ENST00000374869.3_Missense_Mutation_p.H179Y|AMER1_ENST00000403336.1_Missense_Mutation_p.H179Y NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) CTCTTCCGGTGACGGCGGATA 0.577000 47 10 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120840528 120840528 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:120840528G>A ENST00000273666.6 + 7 917 c.646G>A c.(646-648)Gat>Aat p.D216N STXBP5L_ENST00000492541.1_Missense_Mutation_p.D216N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.D216N|STXBP5L_ENST00000471454.1_Missense_Mutation_p.D216N|STXBP5L_ENST00000472879.1_Missense_Mutation_p.D216N NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 216 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) ACATTTAAGCGATAGCCCAAG 0.294000 34 62 0 0 1 0 0 RALGDS 5900 broad.mit.edu 37 9 135977358 135977358 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:135977358G>A ENST00000393160.3 - 15 2366 c.2013C>T c.(2011-2013)ttC>ttT p.F671F RALGDS_ENST00000372062.3_Silent_p.F697F|RALGDS_ENST00000393157.3_Silent_p.F725F|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Silent_p.F797F|RALGDS_ENST00000372047.3_Silent_p.F714F|RALGDS_ENST00000372050.3_Silent_p.F726F NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 726 nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) ACTCCGGGACGAAGCTGATGT 0.612000 T CIITA """PMBL, Hodgkin Lymphona, """ 3 7 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50832089 50832089 + Splice_Site SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr18:50832089G>A ENST00000442544.2 + 13 2669 c.2053_splice c.e13+1 p.G685_splice DCC_ENST00000581580.1_Splice_Site_p.G340_splice|DCC_ENST00000412726.1_Splice_Site_p.G533_splice NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 685 Fibronectin type-III 3. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CCTATTCACAGGTCAGTGTTC 0.403000 45 79 0 0 1 0 0 PLXNC1 10154 broad.mit.edu 37 12 94692559 94692559 + Nonsense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:94692559G>A ENST00000258526.4 + 27 4475 c.4226G>A c.(4225-4227)tGg>tAg p.W1409* PLXNC1_ENST00000545312.1_Nonsense_Mutation_p.W148*|PLXNC1_ENST00000547057.1_Nonsense_Mutation_p.W456* NM_005761.2 NP_005752.1 O60486 PLXC1_HUMAN plexin C1 1409 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GTACATATTTGGAAAACAAAC 0.363000 18 41 0 0 1 0 0 SATB1 6304 broad.mit.edu 37 3 18436239 18436239 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:18436239G>A ENST00000338745.6 - 7 2655 c.921C>T c.(919-921)ctC>ctT p.L307L SATB1_ENST00000417717.2_Silent_p.L307L|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Silent_p.L307L NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 307 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 GTGTTGATACGAGCCCAGGGT 0.572000 47 81 0 0 1 0 0 FLT3 2322 broad.mit.edu 37 13 28592617 28592617 + Missense_Mutation SNP A A G TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr13:28592617A>G ENST00000380982.4 - 20 2609 c.2528T>C c.(2527-2529)gTt>gCt p.V843A FLT3_ENST00000241453.7_Missense_Mutation_p.V843A|FLT3_ENST00000537084.1_Intron P36888 FLT3_HUMAN fms-related tyrosine kinase 3 843 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) GCCCCTGACAACATAGTTGGA 0.458000 """Mis, O""" """AML, ALL""" 33 50 0 0 1 0 0 ASZ1 136991 broad.mit.edu 37 7 117067454 117067454 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:117067454C>T ENST00000284629.2 - 1 123 c.61G>A c.(61-63)Gag>Aag p.E21K NM_130768.2 NP_570124.1 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper domain containing 1 21 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity p.E21K(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1) 24 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) CCATCATCCTCGCTCTCGCTA 0.672000 OREG0003439 type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 60 102 0 0 1 0 0 ZCCHC14 23174 broad.mit.edu 37 16 87454249 87454249 + Missense_Mutation SNP A A C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr16:87454249A>C ENST00000268616.4 - 5 720 c.503T>G c.(502-504)gTg>gGg p.V168G NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 168 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) GTTTCGCTCCACATAAAATGC 0.562000 15 32 0 0 1 0 0 ZNF408 79797 broad.mit.edu 37 11 46727245 46727245 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:46727245G>A ENST00000311764.2 + 5 2225 c.1995G>A c.(1993-1995)gaG>gaA p.E665E NM_001184751.1|NM_024741.2 NP_001171680.1|NP_079017.1 Q9H9D4 ZN408_HUMAN zinc finger protein 408 665 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ACAGAGAGGAGGAAGTCTCCC 0.612000 15 23 0 0 1 0 0 ZCCHC7 84186 broad.mit.edu 37 9 37349404 37349404 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:37349404C>T ENST00000336755.5 + 7 1144 c.1038C>T c.(1036-1038)gcC>gcT p.A346A ZCCHC7_ENST00000534928.1_Silent_p.A56A|ZCCHC7_ENST00000461038.1_3'UTR NM_032226.2 NP_115602.2 Q8N3Z6 ZCHC7_HUMAN zinc finger, CCHC domain containing 7 346 nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 30 GBM - Glioblastoma multiforme(29;0.0137) GACCATCAGCCTTAGCATATT 0.428000 50 80 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92088079 92088079 + Nonsense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:92088079C>T ENST00000256343.3 - 19 2289 c.2133G>A c.(2131-2133)tgG>tgA p.W711* NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 711 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) AATATATTTTCCATGTTCGTC 0.368000 50 96 0 0 1 0 0 SLC5A8 160728 broad.mit.edu 37 12 101576625 101576625 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:101576625C>T ENST00000536262.2 - 9 1679 c.1121G>A c.(1120-1122)aGa>aAa p.R374K NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 374 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TGAGAGCGATCTGAAGTAAGG 0.363000 32 54 0 0 1 0 0 C4orf40 401137 broad.mit.edu 37 4 71024057 71024057 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:71024057G>A ENST00000344526.5 + 3 277 c.88G>A c.(88-90)Gat>Aat p.D30N C4orf40_ENST00000502441.2_Intron|C4orf40_ENST00000502294.1_Missense_Mutation_p.D30N NM_214711.3 NP_999876.2 Q6MZM9 CD040_HUMAN chromosome 4 open reading frame 40 30 extracellular region breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 TGACAATGACGATGGTCACCC 0.388000 64 134 0 0 1 0 0 SNORD114-2 767578 broad.mit.edu 37 14 101418202 101418202 + RNA SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:101418202G>A ENST00000363953.1 + 0 10 NR_003194.1 TGGGACCAATGATAATGACTG 0.328000 26 55 0 0 1 0 0 TAS2R40 259286 broad.mit.edu 37 7 142920020 142920020 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:142920020C>T ENST00000408947.3 + 1 891 c.849C>T c.(847-849)atC>atT p.I283I NM_176882.1 NP_795363.1 P59535 T2R40_HUMAN taste receptor, type 2, member 40 283 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 Melanoma(164;0.059) TGTGCAAGATCATCATGGCTG 0.468000 48 100 0 0 1 0 0 ECEL1 9427 broad.mit.edu 37 2 233349798 233349798 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:233349798G>A ENST00000304546.1 - 4 1069 c.859C>T c.(859-861)Ctg>Ttg p.L287L ECEL1_ENST00000409941.1_Silent_p.L287L NM_004826.2 NP_004817.2 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 287 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 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;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) TATGCTGCCAGGATCTGCACC 0.647000 20 37 0 0 1 0 0 UGT2A3 79799 broad.mit.edu 37 4 69817431 69817431 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:69817431G>A ENST00000251566.4 - 1 78 c.48C>T c.(46-48)ttC>ttT p.F16F NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 16 integral to membrane glucuronosyltransferase activity p.F16F(1) NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 AGCCAACACAGAAGAGCTGCA 0.473000 25 72 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126412034 126412034 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:126412034C>T ENST00000394329.3 + 17 14070 c.14057C>T c.(14056-14058)tCc>tTc p.S4686F FAT4_ENST00000335110.5_Missense_Mutation_p.S2927F NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4686 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AGAACCAGCTCCCTAAGCCAC 0.527000 56 126 0 0 1 0 0 RPL5 6125 broad.mit.edu 37 1 93303020 93303020 + Nonsense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:93303020C>T ENST00000370321.3 + 6 625 c.535C>T c.(535-537)Cga>Tga p.R179* NM_000969.3 NP_000960.2 P46777 RL5_HUMAN ribosomal protein L5 179 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) TAGTACCAAACGATTCCCTGG 0.358000 27 46 0 0 1 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50659988 50659988 + Missense_Mutation SNP G G A rs143587106 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr22:50659988G>A ENST00000439308.2 - 16 3292 c.2800C>T c.(2800-2802)Cct>Tct p.P934S TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Missense_Mutation_p.P934S NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 934 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) GCCTCCCCAGGAGCTGAGGGG 0.657000 6 17 0 0 1 0 0 C5AR2 27202 broad.mit.edu 37 19 47845019 47845019 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:47845019G>A ENST00000595464.1 + 2 1181 c.963G>A c.(961-963)gtG>gtA p.V321V C5AR2_ENST00000600626.1_Silent_p.V321V|C5AR2_ENST00000257267.2_Silent_p.V321V NM_001271749.1 NP_001258678.1 complement component 5a receptor 2 ACGAAAGTGTGGACAGCAAGA 0.557000 29 66 0 0 1 0 0 NLRP10 338322 broad.mit.edu 37 11 7982613 7982613 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:7982613G>A ENST00000328600.2 - 2 707 c.546C>T c.(544-546)ctC>ctT p.L182L NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 182 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TTTTTCTGGCGAGAGTTGTCT 0.532000 29 53 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10532971 10532971 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:10532971G>A ENST00000583535.1 - 40 5826 c.5739C>T c.(5737-5739)atC>atT p.I1913I MYH3_ENST00000226209.7_Silent_p.I1913I NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1913 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 GAGATTCTGCGATATCCGCAC 0.567000 49 70 0 0 1 0 0 COL9A3 1299 broad.mit.edu 37 20 61467860 61467860 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr20:61467860G>A ENST00000343916.3 + 29 1582 c.1579G>A c.(1579-1581)Gag>Aag p.E527K COL9A3_ENST00000462700.1_Intron NM_001853.3 NP_001844.3 Q14050 CO9A3_HUMAN collagen, type IX, alpha 3 527 Nonhelical region 3 (NC3). axon guidance collagen type IX breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Breast(26;5.68e-08) GCGCATCAGGGAGCTGTGTGG 0.672000 8 27 0 0 1 0 0 VIM 7431 broad.mit.edu 37 10 17277176 17277176 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:17277176C>T ENST00000544301.1 + 7 1430 c.1017C>T c.(1015-1017)tcC>tcT p.S339S VIM_ENST00000224237.5_Silent_p.S339S NM_003380.3 NP_003371.2 P08670 VIME_HUMAN vimentin 339 Coil 2.|Rod. S -> C (in Ref. 17; AAA61281). cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton p.S339S(1)|p.L340M(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 AGAATGAGTCCCTGGAACGCC 0.458000 24 43 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6700892 6700892 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:6700892C>T ENST00000309577.6 - 21 3353 c.3190G>A c.(3190-3192)Gag>Aag p.E1064K CHD4_ENST00000544484.1_Missense_Mutation_p.E1061K|CHD4_ENST00000357008.2_Missense_Mutation_p.E1064K|CHD4_ENST00000544040.1_Missense_Mutation_p.E1057K Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1064 Helicase C-terminal. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TGCCCACCCTCCTTAAGGTTC 0.468000 61 73 0 0 1 0 0 MAP3K10 4294 broad.mit.edu 37 19 40704302 40704302 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:40704302G>A ENST00000253055.3 + 2 991 c.703G>A c.(703-705)Gag>Aag p.E235K MAP3K10_ENST00000593906.1_3'UTR NM_002446.3 NP_002437.2 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 10 235 Protein kinase. activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 GGAGGCCATCGAGAACCACAA 0.637000 35 60 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179468872 179468872 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:179468872C>T ENST00000589042.1 - 282 54766 c.54542G>A c.(54541-54543)gGa>gAa p.G18181E TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G9241E|TTN_ENST00000591111.1_Missense_Mutation_p.G16540E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G15613E|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G9116E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G9308E|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16540 Ig-like 105. 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) TAGCATTGATCCTTTGGTGCG 0.463000 66 107 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856740 53856740 + Missense_Mutation SNP A A C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:53856740A>C ENST00000458035.1 + 4 2929 c.2812A>C c.(2812-2814)Act>Cct p.T938P ZNF845_ENST00000595091.1_Missense_Mutation_p.T938P NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 938 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 GACAATTCATACTGGAGAGAA 0.353000 10 42 0 0 1 0 0 TSKS 60385 broad.mit.edu 37 19 50250699 50250699 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:50250699C>T ENST00000246801.3 - 5 692 c.610G>A c.(610-612)Gaa>Aaa p.E204K NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 204 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) TCAGCATCTTCCACAGACCGG 0.572000 37 68 0 0 1 0 0 OR4K5 79317 broad.mit.edu 37 14 20389635 20389635 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:20389635G>A ENST00000315915.4 + 1 895 c.870G>A c.(868-870)agG>agA p.R290R NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 290 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) ATACACTAAGGAATAGGGATA 0.398000 67 127 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 8 73 0 0 1 0 0 OR56B4 196335 broad.mit.edu 37 11 6129065 6129065 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:6129065C>T ENST00000316529.3 + 1 152 c.57C>T c.(55-57)atC>atT p.I19I NM_001005181.1 NP_001005181.1 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, member 4 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCAGTTCATCCTGATGGGAT 0.502000 42 58 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52496389 52496389 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:52496389C>T ENST00000216286.5 - 10 2276 c.2277G>A c.(2275-2277)ccG>ccA p.P759P NID2_ENST00000541773.1_Silent_p.P706P NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 759 EGF-like 2. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) AAGGATTCCCCGGAGTGGGGT 0.517000 24 42 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17046556 17046556 + RNA SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:17046556G>A ENST00000492551.1 - 0 96 NR_026567.1 GCCGCGGTGGGATCCCCACCG 0.597000 34 300 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11648317 11648317 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:11648317G>A ENST00000262442.3 + 31 6383 c.6315G>A c.(6313-6315)cgG>cgA p.R2105R DNAH9_ENST00000454412.2_Silent_p.R2105R NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2105 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) ATGTCCCCCGGAGGAGAGACC 0.537000 23 51 0 0 1 0 0 BRINP1 1620 broad.mit.edu 37 9 122004448 122004448 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:122004448C>T ENST00000265922.3 - 4 917 c.456G>A c.(454-456)agG>agA p.R152R DBC1_ENST00000373964.2_Silent_p.R152R NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 152 MACPF. 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 TCCCTGACTTCCTGTCGAGGC 0.488000 23 56 0 0 1 0 0 MAST3 23031 broad.mit.edu 37 19 18218412 18218412 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:18218412C>T ENST00000262811.5 + 2 55 c.55C>T c.(55-57)Cca>Tca p.P19S NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 19 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 GCTGAGCCTGCCACGCCGAGG 0.572000 89 125 0 0 1 0 0 LECT1 11061 broad.mit.edu 37 13 53277900 53277900 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr13:53277900C>T ENST00000448904.2 - 7 942 c.832G>A c.(832-834)Gaa>Aaa p.E278K LECT1_ENST00000377962.3_Missense_Mutation_p.E279K NM_001011705.1|NM_007015.2 NP_001011705.1|NP_008946.1 O75829 LECT1_HUMAN leukocyte cell derived chemotaxin 1 279 cartilage development|proteoglycan metabolic process endomembrane system|extracellular region|integral to membrane NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 15 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.38e-08) CAGATTCCTTCGTGATCCAGT 0.453000 45 82 0 0 1 0 0 BRAT1 221927 broad.mit.edu 37 7 2583262 2583262 + Silent SNP G G T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:2583262G>T ENST00000340611.4 - 5 1021 c.765C>A c.(763-765)gcC>gcA p.A255A NM_152743.3 NP_689956.2 Q6PJG6 BRAT1_HUMAN BRCA1-associated ATM activator 1 255 response to ionizing radiation nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 ACGAGTGTGCGGCGGGGATGG 0.692000 31 79 9.78485e-24 9.90704e-24 1 1 0 TSIX 9383 broad.mit.edu 37 X 73041549 73041549 + RNA SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chrX:73041549G>A ENST00000604411.1 + 0 29510 XIST_ENST00000429829.1_lincRNA NR_003255.2 TTTAAAAACGGAAAAGGTCAA 0.358000 5 1 0 0 1 0 0 AZGP1 563 broad.mit.edu 37 7 99564731 99564731 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:99564731G>A ENST00000292401.4 - 4 928 c.792C>T c.(790-792)tcC>tcT p.S264S AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR NM_001185.3 NP_001176.1 P25311 ZA2G_HUMAN alpha-2-glycoprotein 1, zinc-binding 264 Ig-like C1-type. antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation extracellular region|MHC class I protein complex fatty acid binding|protein transmembrane transporter activity|ribonuclease activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1) 16 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) CCACCACCCAGGACTGGTAAG 0.637000 23 70 0 0 1 0 0 STMN2 11075 broad.mit.edu 37 8 80567234 80567234 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:80567234G>A ENST00000220876.7 + 4 799 c.417G>A c.(415-417)atG>atA p.M139I STMN2_ENST00000518111.1_Missense_Mutation_p.M139I|STMN2_ENST00000518491.1_Missense_Mutation_p.M128I NM_001199214.1|NM_007029.3 NP_001186143.1|NP_008960.2 Q93045 STMN2_HUMAN stathmin-like 2 139 intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 all_lung(9;8.34e-05) Epithelial(68;0.0229)|all cancers(69;0.0874) TCCTGAAAATGGAACAAATTA 0.453000 22 30 0 0 1 0 0 UBTF 7343 broad.mit.edu 37 17 42287823 42287823 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:42287823C>T ENST00000302904.4 - 14 1870 c.1378G>A c.(1378-1380)Gag>Aag p.E460K UBTF_ENST00000393606.3_Missense_Mutation_p.E423K|UBTF_ENST00000529383.1_Missense_Mutation_p.E460K|UBTF_ENST00000436088.1_Missense_Mutation_p.E460K|UBTF_ENST00000526094.1_Missense_Mutation_p.E423K|UBTF_ENST00000533177.1_Missense_Mutation_p.E423K|UBTF_ENST00000343638.5_Missense_Mutation_p.E423K|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000527034.1_Missense_Mutation_p.E423K P17480 UBF1_HUMAN upstream binding transcription factor, RNA polymerase I 460 positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) AGCGCCGCCTCTCGGGCCTTG 0.731000 OREG0024456 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 25 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55541990 55541990 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:55541990C>T ENST00000220676.1 + 4 5696 c.5548C>T c.(5548-5550)Cat>Tat p.H1850Y NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1850 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) AATAGCAAATCATCATACAGA 0.418000 30 56 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17086005 17086005 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:17086005G>A ENST00000443236.1 - 17 2144 c.2113C>T c.(2113-2115)Cct>Tct p.P705S CPAMD8_ENST00000388925.4_Missense_Mutation_p.P444S NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 658 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CACCAAAAAGGACCATCCTCC 0.567000 5 25 0 0 1 0 0 SLC39A13 91252 broad.mit.edu 37 11 47431682 47431682 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:47431682G>A ENST00000524928.1 + 1 47 c.37G>A c.(37-39)Ggc>Agc p.G13S SLC39A13_ENST00000531974.1_Missense_Mutation_p.G13S|SLC39A13_ENST00000362021.4_Missense_Mutation_p.G13S|SLC39A13_ENST00000354884.4_Missense_Mutation_p.G13S|SLC39A13_ENST00000533076.1_Missense_Mutation_p.G13S Q96H72 S39AD_HUMAN solute carrier family 39 (zinc transporter), member 13 13 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|kidney(1)|lung(1)|prostate(1) 4 Lung(87;0.0936) TGGCATGGCGGGCCCAAGGCT 0.642000 65 101 0 0 1 0 0 ZNF408 79797 broad.mit.edu 37 11 46727246 46727246 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:46727246G>A ENST00000311764.2 + 5 2226 c.1996G>A c.(1996-1998)Gaa>Aaa p.E666K NM_001184751.1|NM_024741.2 NP_001171680.1|NP_079017.1 Q9H9D4 ZN408_HUMAN zinc finger protein 408 666 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CAGAGAGGAGGAAGTCTCCCC 0.612000 15 24 0 0 1 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159818728 159818728 + RNA SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:159818728G>A ENST00000497452.1 - 0 517 CAAAGTAGGAGGGAACGAAGT 0.522000 69 109 0 0 1 0 0 PNN 5411 broad.mit.edu 37 14 39645780 39645780 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:39645780C>T ENST00000216832.4 + 3 302 c.235C>T c.(235-237)Ctt>Ttt p.L79F PNN_ENST00000553331.1_Missense_Mutation_p.L79F|PNN_ENST00000556530.1_Missense_Mutation_p.L79F NM_002687.3 NP_002678.2 Q9H307 PININ_HUMAN pinin, desmosome associated protein 79 Necessary for interaction with RNPS1.|Necessary for interactions with KRT8, KRT18 and KRT19.|Necessary for mediating alternative 5' splicing. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1) 27 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) ACAGAGAGACCTTGAAGGGGC 0.368000 8 30 0 0 1 0 0 ZNF781 163115 broad.mit.edu 37 19 38160384 38160384 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:38160384G>A ENST00000358582.4 - 4 1414 c.666C>T c.(664-666)ttC>ttT p.F222F ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000590008.1_Silent_p.F222F NM_152605.3 NP_689818.2 Q8N8C0 ZN781_HUMAN zinc finger protein 781 222 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 TCACCAGTATGAATTCTTTGA 0.358000 42 73 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766382 77766382 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:77766382C>T ENST00000521891.2 + 10 7673 c.7225C>T c.(7225-7227)Ccc>Tcc p.P2409S ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2364S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2383S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2364S NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2364 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACCTGAATATCCCGCAGAAAA 0.572000 HNSCC(33;0.089) 11 22 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152277116 152277116 + Missense_Mutation SNP C C T rs140368354 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:152277116C>T ENST00000368799.1 - 3 10281 c.10246G>A c.(10246-10248)Gag>Aag p.E3416K FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3416 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGTGCCTGCTCGTGGTGGGAT 0.597000 Ichthyosis 362 261 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122003539 122003539 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:122003539C>T ENST00000498619.1 + 7 3206 c.2768C>T c.(2767-2769)tCc>tTc p.S923F CASR_ENST00000490131.1_Missense_Mutation_p.S913F|CASR_ENST00000296154.5_Missense_Mutation_p.S913F NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 913 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CCCTCCTCCTCCATCAGCAGC 0.662000 25 50 0 0 1 0 0 LRRC37BP1 147172 broad.mit.edu 37 17 28961033 28961033 + RNA SNP T T G TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:28961033T>G ENST00000417404.1 + 0 1291 SMURF2P1_ENST00000578265.1_RNA|LRRC37BP1_ENST00000412831.1_RNA AGTTCCAGGATATGACTATAA 0.264000 4 67 0 0 1 0 0 PCOLCE 5118 broad.mit.edu 37 7 100203371 100203371 + Missense_Mutation SNP T T C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:100203371T>C ENST00000223061.5 + 5 941 c.661T>C c.(661-663)Ttc>Ctc p.F221L NM_002593.3 NP_002584.2 Q15113 PCOC1_HUMAN procollagen C-endopeptidase enhancer 221 CUB 2. 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) GGTCAGCGTGTTCAACGGAGC 0.687000 6 5 0 0 1 0 0 PITPNM1 9600 broad.mit.edu 37 11 67269850 67269850 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:67269850C>T ENST00000356404.3 - 4 553 c.328G>A c.(328-330)Gaa>Aaa p.E110K PITPNM1_ENST00000436757.2_Missense_Mutation_p.E110K|PITPNM1_ENST00000534749.1_Missense_Mutation_p.E110K NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 110 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 GTCTCAATTTCAATGGAGAAT 0.617000 56 91 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38697707 38697707 + Silent SNP A A G TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:38697707A>G ENST00000449981.2 + 4 664 c.555A>G c.(553-555)aaA>aaG p.K185K DNAH8_ENST00000359357.3_Intron dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TTTTTGCGAAAGATGGTTGTA 0.338000 5 3 0 0 1 0 0 ARID5A 10865 broad.mit.edu 37 2 97217112 97217112 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:97217112G>A ENST00000454558.2 + 7 1820 c.643G>A c.(643-645)Ggg>Agg p.G215R ARID5A_ENST00000357485.3_Missense_Mutation_p.G283R Q03989 ARI5A_HUMAN AT rich interactive domain 5A (MRF1-like) 283 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 CTGCCGCCATGGGGCAGAGCC 0.652000 12 24 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73787560 73787560 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:73787560G>A ENST00000342056.2 + 5 1266 c.868G>A c.(868-870)Gat>Aat p.D290N KCNQ5_ENST00000403813.2_Missense_Mutation_p.D290N|KCNQ5_ENST00000402622.2_Missense_Mutation_p.D290N|KCNQ5_ENST00000370392.1_Missense_Mutation_p.D290N|KCNQ5_ENST00000414165.2_Missense_Mutation_p.D290N|KCNQ5_ENST00000370398.1_Missense_Mutation_p.D290N|KCNQ5_ENST00000355635.3_Missense_Mutation_p.D290N|KCNQ5_ENST00000355194.4_Missense_Mutation_p.D290N NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 290 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) GGTGGAAAAGGATGCCAATAA 0.318000 33 13 0 0 1 0 0 OR5H2 79310 broad.mit.edu 37 3 98001786 98001786 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:98001786C>T ENST00000355273.2 + 1 55 c.55C>T c.(55-57)Ctc>Ttc p.L19F RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 19 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 AGAGTTTGTTCTCACAGGACT 0.413000 116 165 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85676482 85676482 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:85676482G>A ENST00000322366.6 - 34 5903 c.5496C>T c.(5494-5496)atC>atT p.I1832I WDFY3_ENST00000295888.4_Silent_p.I1832I Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1832 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) ATACGTTATGGATAGAAGAGA 0.433000 41 55 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82545982 82545982 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:82545982C>T ENST00000423517.2 - 7 11657 c.11320G>A c.(11320-11322)Gaa>Aaa p.E3774K PCLO_ENST00000437081.1_Missense_Mutation_p.E494K|PCLO_ENST00000333891.8_Missense_Mutation_p.E3774K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3705 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 GACTCCCTTTCCACAAGATCA 0.453000 34 56 0 0 1 0 0 PPP1R26 9858 broad.mit.edu 37 9 138377800 138377800 + Missense_Mutation SNP A A T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:138377800A>T ENST00000356818.2 + 4 1993 c.1444A>T c.(1444-1446)Atg>Ttg p.M482L PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.M482L|PPP1R26_ENST00000604351.1_Missense_Mutation_p.M482L|PPP1R26_ENST00000605660.1_Missense_Mutation_p.M482L|PPP1R26_ENST00000605286.1_Missense_Mutation_p.M482L NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 482 nucleolus protein binding TGCTGAGCTGATGTGTGCAGA 0.607000 38 60 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82585826 82585826 + Missense_Mutation SNP T T G TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:82585826T>G ENST00000423517.2 - 5 4780 c.4443A>C c.(4441-4443)aaA>aaC p.K1481N PCLO_ENST00000333891.8_Missense_Mutation_p.K1481N NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1412 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 GTTGGCTATCTTTTTTAAAAG 0.358000 27 44 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36499159 36499159 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:36499159C>T ENST00000342292.4 - 1 534 c.514G>A c.(514-516)Gaa>Aaa p.E172K NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 172 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) AGGATGGTTTCCTCCCCAGTC 0.622000 34 66 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117609901 117609901 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:117609901C>T ENST00000368508.3 - 43 6996 c.6798G>A c.(6796-6798)acG>acA p.T2266T ROS1_ENST00000368507.3_Silent_p.T2260T NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 2266 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CTCGGTTCTTCGTTTCCATTA 0.393000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 20 18 0 0 1 0 0 OR51A2 401667 broad.mit.edu 37 11 4976683 4976683 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:4976683G>A ENST00000380371.1 - 1 260 c.261C>T c.(259-261)ttC>ttT p.F87F MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004748.1 NP_001004748.1 Q8NGJ7 O51A2_HUMAN olfactory receptor, family 51, subfamily A, member 2 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CATTGAACAGGAAGATGCTTA 0.463000 71 25 0 0 1 0 0 ANKRD32 84250 broad.mit.edu 37 5 94030913 94030913 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:94030913C>T ENST00000265140.5 + 21 3492 c.3073C>T c.(3073-3075)Ctt>Ttt p.L1025F ANKRD32_ENST00000493934.1_Intron NM_032290.3 NP_115666.2 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 1025 NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 13 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) CCCACACATTCTTAAGGAACT 0.413000 99 151 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21032525 21032525 + Missense_Mutation SNP G G A rs141602442 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:21032525G>A ENST00000381545.3 + 11 1510 c.1291G>A c.(1291-1293)Gaa>Aaa p.E431K SLCO1B3_ENST00000261196.2_Missense_Mutation_p.E431K|LST3_ENST00000540229.1_Missense_Mutation_p.E431K|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.E431K|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 431 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) TCTAATCTGCGAAAGCAAATC 0.303000 30 45 0 0 1 0 0 IFT57 55081 broad.mit.edu 37 3 107885727 107885727 + Missense_Mutation SNP G G A rs149049643 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:107885727G>A ENST00000264538.3 - 8 1202 c.955C>T c.(955-957)Cgt>Tgt p.R319C IFT57_ENST00000468021.1_5'UTR NM_018010.3 NP_060480.1 Q9NWB7 IFT57_HUMAN intraflagellar transport 57 homolog (Chlamydomonas) 319 activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cilium|microtubule basal body DNA binding|protein binding kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 14 OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246) TGAGCTGCACGATATTCTTGA 0.373000 26 59 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139164494 139164494 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr8:139164494C>T ENST00000395297.1 - 13 2394 c.2224G>A c.(2224-2226)Ggc>Agc p.G742S NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 742 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GCCTGGATGCCGCTTGGCAAA 0.522000 HNSCC(54;0.14) 35 59 0 0 1 0 0 SLC39A9 55334 broad.mit.edu 37 14 69925297 69925297 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:69925297G>A ENST00000031146.4 + 6 1391 c.713G>A c.(712-714)gGa>gAa p.G238E SLC39A9_ENST00000556605.1_Intron|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000336643.5_Missense_Mutation_p.G304E|SLC39A9_ENST00000557046.1_Missense_Mutation_p.G281E Q9NUM3 S39A9_HUMAN solute carrier family 39, member 9 304 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1) 14 all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373) CTGTCAGTAGGACACCAGCAT 0.592000 16 17 0 0 1 0 0 FBXO18 84893 broad.mit.edu 37 10 5951255 5951255 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:5951255G>A ENST00000379999.5 + 6 1275 c.1171G>A c.(1171-1173)Ggg>Agg p.G391R FBXO18_ENST00000379994.1_Missense_Mutation_p.G77R|FBXO18_ENST00000362091.4_Missense_Mutation_p.G340R|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 340 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 CGCTGCTGCCGGGGTAGGTCT 0.567000 24 36 0 0 1 0 0 CENPN 55839 broad.mit.edu 37 16 81051405 81051405 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr16:81051405C>T ENST00000305850.5 + 5 1110 c.320C>T c.(319-321)tCg>tTg p.S107L CENPN_ENST00000428963.2_Missense_Mutation_p.S107L|CENPN_ENST00000299572.5_Missense_Mutation_p.S107L|CENPN_ENST00000439957.3_Missense_Mutation_p.S87L|CENPN_ENST00000393335.3_Missense_Mutation_p.S107L|CMC2_ENST00000565914.1_Intron|CENPN_ENST00000569461.1_Intron|RP11-303E16.3_ENST00000562315.1_RNA NM_001100624.2|NM_001270474.1 NP_001094094.2|NP_001257403.1 Q96H22 CENPN_HUMAN centromere protein N 107 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm p.S107L(1) breast(1)|large_intestine(5)|lung(4) 10 TTTAAAAATTCGTTCAAGAAA 0.279000 26 40 0 0 1 0 0 OR2A12 346525 broad.mit.edu 37 7 143792731 143792731 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:143792731C>T ENST00000408949.2 + 1 591 c.531C>T c.(529-531)ttC>ttT p.F177F NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 177 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) ACCACTTTTTCTGTCAAATCA 0.468000 62 98 0 0 1 0 0 TSSK1B 83942 broad.mit.edu 37 5 112769679 112769679 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:112769679C>T ENST00000390666.3 - 1 1049 c.858G>A c.(856-858)aaG>aaA p.K286K CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron NM_032028.3 NP_114417.1 Q9BXA7 TSSK1_HUMAN testis-specific serine kinase 1B 286 cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity large_intestine(8)|ovary(2)|skin(2)|stomach(1) 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) TCTCCCCCTCCTTGTTGATGG 0.632000 19 33 0 0 1 0 0 BMP4 652 broad.mit.edu 37 14 54417526 54417526 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:54417526C>T ENST00000245451.4 - 4 844 c.451G>A c.(451-453)Gag>Aag p.E151K BMP4_ENST00000417573.1_Missense_Mutation_p.E151K|BMP4_ENST00000559087.1_Missense_Mutation_p.E151K|BMP4_ENST00000558984.1_Missense_Mutation_p.E151K NM_001202.3 NP_001193.2 P12644 BMP4_HUMAN bone morphogenetic protein 4 151 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 GAGATCACCTCGTTCTCAGGG 0.512000 39 49 0 0 1 0 0 OR4L1 122742 broad.mit.edu 37 14 20528638 20528638 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:20528638G>A ENST00000315683.1 + 1 435 c.435G>A c.(433-435)gcG>gcA p.A145A NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) AGGGGTTTGCGATACTTTCAT 0.388000 74 115 0 0 1 0 0 SLC7A11 23657 broad.mit.edu 37 4 139101888 139101888 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:139101888G>A ENST00000280612.5 - 10 1452 c.1173C>T c.(1171-1173)ttC>ttT p.F391F NM_014331.3 NP_055146.1 Q9UPY5 XCT_HUMAN solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 391 blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin integral to membrane|plasma membrane cystine:glutamate antiporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2) 18 all_hematologic(180;0.166) L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795) CAAAACTGAGGAAATTCAAAA 0.458000 16 21 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106960879 106960879 + Splice_Site SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:106960879G>A ENST00000369701.3 + 16 2356 c.2127_splice c.e16-1 p.G710_splice SORCS3_ENST00000369699.4_5'UTR NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 710 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CTCTCTAAGGGAGAGCCTTGT 0.438000 31 50 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38812793 38812793 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:38812793C>T ENST00000449082.2 - 4 575 c.576G>A c.(574-576)ctG>ctA p.L192L NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 192 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) CGCTAAAATCCAGCCAGTTCC 0.443000 56 118 0 0 1 0 0 PBX4 80714 broad.mit.edu 37 19 19681608 19681608 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:19681608G>A ENST00000251203.8 - 3 514 c.228C>T c.(226-228)ccC>ccT p.P76P NM_025245.2 NP_079521.1 Q9BYU1 PBX4_HUMAN pre-B-cell leukemia homeobox 4 76 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(4)|ovary(1)|prostate(3) 9 GGGCGTCAGGGGGATCTTCGT 0.547000 31 68 0 0 1 0 0 SLC35F3 148641 broad.mit.edu 37 1 234454596 234454596 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:234454596C>T ENST00000366618.3 + 6 1199 c.1054C>T c.(1054-1056)Cct>Tct p.P352S SLC35F3_ENST00000366617.3_Missense_Mutation_p.P283S NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 283 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) CACCTGCATTCCTATTATCCT 0.418000 91 249 0 0 1 0 0 KCNJ10 3766 broad.mit.edu 37 1 160011958 160011958 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:160011958G>A ENST00000368089.3 - 2 591 c.365C>T c.(364-366)tCc>tTc p.S122F KCNJ10_ENST00000509700.1_5'UTR NM_002241.4 NP_002232.2 P78508 IRK10_HUMAN potassium inwardly-rectifying channel, subfamily J, member 10 122 integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGATTCAAGGGAGAAGAGGAA 0.582000 107 80 0 0 1 0 0 TMEM182 130827 broad.mit.edu 37 2 103380833 103380833 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:103380833C>T ENST00000412401.2 + 3 483 c.278C>T c.(277-279)cCg>cTg p.P93L TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409528.1_5'UTR|TMEM182_ENST00000409173.1_Missense_Mutation_p.P50L NM_144632.3 NP_653233.3 Q6ZP80 TM182_HUMAN transmembrane protein 182 93 integral to membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5) 11 TACCTGTCTCCGTACCCCTTC 0.473000 9 94 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125530481 125530481 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:125530481C>T ENST00000241305.3 - 8 1207 c.1053G>A c.(1051-1053)ctG>ctA p.L351L CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 351 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CATACAGCTTCAGGCCCTGGT 0.463000 169 277 0 0 1 0 0 GPLD1 2822 broad.mit.edu 37 6 24475350 24475350 + Splice_Site SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:24475350G>A ENST00000230036.1 - 5 550 c.441_splice c.e5+1 p.A147_splice GPLD1_ENST00000474784.1_5'UTR NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 147 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 TGTACTCACAGCTCCCATGGT 0.433000 90 82 0 0 1 0 0 ITGAM 3684 broad.mit.edu 37 16 31288249 31288249 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr16:31288249C>T ENST00000544665.3 + 11 1163 c.1092C>T c.(1090-1092)ccC>ccT p.P364P ITGAM_ENST00000287497.8_Silent_p.P364P NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 364 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 AGAATGGCCCCTTGCTGAGCA 0.498000 11 16 0 0 1 0 0 OR5H6 79295 broad.mit.edu 37 3 97983330 97983330 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:97983330G>A ENST00000383696.2 + 1 243 c.202G>A c.(202-204)Gac>Aac p.D68N RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CATCTGGAAAGACCCTCACCT 0.423000 144 216 0 0 1 0 0 FBXO18 84893 broad.mit.edu 37 10 5951256 5951256 + Splice_Site SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:5951256G>A ENST00000379999.5 + 6 1276 c.1173_splice c.e6+1 p.G391_splice FBXO18_ENST00000379994.1_Splice_Site_p.G77_splice|FBXO18_ENST00000362091.4_Splice_Site_p.G340_splice|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 340 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 GCTGCTGCCGGGGTAGGTCTG 0.562000 25 36 0 0 1 0 0 LRRN2 10446 broad.mit.edu 37 1 204587954 204587954 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:204587954G>A ENST00000367175.1 - 1 3379 c.1167C>T c.(1165-1167)ttC>ttT p.F389F LRRN2_ENST00000367177.3_Silent_p.F389F|LRRN2_ENST00000367176.3_Silent_p.F389F O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 389 LRRCT. cell adhesion integral to membrane receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) GCGGCTCGATGAAGCGGACAC 0.667000 40 106 0 0 1 0 0 OR1F2P 26184 broad.mit.edu 37 16 3265946 3265946 + RNA SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr16:3265946C>T ENST00000576468.1 + 0 418 TGGACAATTTCCTCCTGGCTG 0.512000 32 71 0 0 1 0 0 SNX18 112574 broad.mit.edu 37 5 53814866 53814866 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:53814866C>T ENST00000343017.6 + 1 1278 c.1084C>T c.(1084-1086)Cac>Tac p.H362Y SNX18_ENST00000381410.4_Missense_Mutation_p.H362Y|SNX18_ENST00000326277.3_Missense_Mutation_p.H362Y NM_001145427.1 NP_001138899.1 Q96RF0 SNX18_HUMAN sorting nexin 18 362 PX. cell communication|endocytosis|positive regulation of GTPase activity|protein transport endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane phosphatidylinositol binding|protein binding endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 18 Lung NSC(810;3.46e-05)|Breast(144;0.102) GTGGATGAACCACATGGCCAG 0.637000 27 47 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19856891 19856891 + RNA SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:19856891C>T ENST00000548109.1 + 0 72 GTTTAATTAGCCCAACTTCTG 0.368000 5 61 0 0 1 0 0 LAIR1 3903 broad.mit.edu 37 19 54876398 54876398 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:54876398G>A ENST00000434277.2 - 1 204 c.14C>T c.(13-15)cCc>cTc p.P5L LAIR1_ENST00000348231.4_Missense_Mutation_p.P5L|LAIR1_ENST00000474878.1_Missense_Mutation_p.P5L|LAIR1_ENST00000391742.2_Missense_Mutation_p.P5L|LAIR1_ENST00000391743.3_Intron|LAIR1_ENST00000313038.6_Intron|LAIR1_ENST00000463489.1_Intron NM_002287.3 NP_002278.1 Q6GTX8 LAIR1_HUMAN leukocyte-associated immunoglobulin-like receptor 1 5 integral to membrane|plasma membrane protein binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3) 26 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) GAGGGCGGTGGGGTGGGGAGA 0.632000 30 61 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142668385 142668385 + RNA DEL G G - rs139797618 by1000genomes TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:142668385delG ENST00000369381.2 - 0 2507 gagaggtaatgtgcaggctgg 0.527 4 9 --- --- --- --- SCNM1 79005 broad.mit.edu 37 1 151139586 151139606 + Splice_Site DEL TTTCTCCTCAGGCTTGCAGCT TTTCTCCTCAGGCTTGCAGCT - rs147425600 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:151139586_151139606delTTTCTCCTCAGGCTTGCAGCT ENST00000368905.4 + 4 322_332 c.211_splice c.e4-1 p.71_splice SCNM1_ENST00000461862.1_3'UTR NM_001204856.1|NM_024041.3 NP_001191785.1|NP_076946.1 Q9BWG6 SCNM1_HUMAN sodium channel modifier 1 71 mRNA processing|RNA splicing nucleus metal ion binding|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TCTGTTTCCCTTTCTCCTCAGGCTTGCAGCTTTTCTATGGC 0.448 37 89 --- --- --- --- RP11-815M8.1 0 broad.mit.edu 37 1 222087585 222087585 + RNA DEL G G - rs11342851 byFrequency TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:222087585delG ENST00000433576.1 - 0 230 AATGAATATTGGCTAATGTCA 0.388 4 3 --- --- --- --- TAF1A 9015 broad.mit.edu 37 1 222742985 222742985 + Frame_Shift_Del DEL T T - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr1:222742985delT ENST00000350027.4 - 7 914 c.761delA c.(760-762)gtfs p.D254fs TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000366890.1_Frame_Shift_Del_p.D140fs|TAF1A_ENST00000352967.4_Frame_Shift_Del_p.D254fs|TAF1A_ENST00000543857.1_Frame_Shift_Del_p.D254fs|TAF1A_ENST00000391882.1_Frame_Shift_Del_p.D140fs NM_001201536.1 NP_001188465.1 Q15573 TAF1A_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa 254 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter RNA polymerase I transcription factor complex DNA binding kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1) 18 GBM - Glioblastoma multiforme(131;0.0186) TTGGGCTCCATCTCGATCCCC 0.338 58 63 --- --- --- --- AC008069.1 0 broad.mit.edu 37 2 16939179 16939179 + RNA DEL G G - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:16939179delG ENST00000448650.1 + 0 56 CCTTCCTCCAGGAAGTTTTCC 0.488 OREG0014457 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- ANKRD36BP2 645784 broad.mit.edu 37 2 89100923 89100924 + RNA INS - - G TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:89100923_89100924insG ENST00000393525.3 + 0 1397_1398 AATATAAAAAAGATACATATGA 0.282 2 4 --- --- --- --- AC012307.2 0 broad.mit.edu 37 2 96812443 96812443 + RNA DEL C C - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:96812443delC ENST00000449242.1 - 0 142 CTCCTCCGTGCCCTCTGAAAG 0.662 2 4 --- --- --- --- EDAR 10913 broad.mit.edu 37 2 109524342 109524342 + Frame_Shift_Del DEL A A - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:109524342delA ENST00000409271.1 - 10 1476 c.1033delT c.(1033-1035)ctfs p.S345fs EDAR_ENST00000258443.2_Frame_Shift_Del_p.S313fs|EDAR_ENST00000376651.1_Frame_Shift_Del_p.S345fs Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 313 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 CTGGTGGCAGACTTCTCCCTG 0.617 47 117 --- --- --- --- AC133785.1 0 broad.mit.edu 37 2 131593897 131593897 + RNA DEL G G - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:131593897delG ENST00000429282.1 - 0 670 AC133785.1_ENST00000446213.2_RNA aaaggtaagtgggaggcaaga 0.552 2 4 --- --- --- --- SCN2A 6326 broad.mit.edu 37 2 166245578 166245578 + Frame_Shift_Del DEL C C - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr2:166245578delC ENST00000375437.2 + 27 5552 c.5262delC c.(5260-5262)ttfs p.F1756fs SCN2A_ENST00000375427.2_Frame_Shift_Del_p.F1756fs|SCN2A_ENST00000357398.3_Frame_Shift_Del_p.F1756fs|SCN2A_ENST00000283256.6_Frame_Shift_Del_p.F1756fs NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1756 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) TTGGGATTTTCTTTTTTGTCA 0.453 12 305 --- --- --- --- RP11-384L8.1 0 broad.mit.edu 37 3 32279413 32279413 + RNA DEL T T - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:32279413delT ENST00000565519.1 - 0 657 TCTTGAAACATTTTTTTTCCC 0.542 2 4 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129370576 129370578 + In_Frame_Del DEL CTG CTG - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr3:129370576_129370578delCTG ENST00000393238.3 - 6 2048_2050 c.1708_1710delCAG c.(1708-1710)del p.Q570del TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 570 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 GCTGCACCACCTGCTGCTGCTGC 0.581 7 171 --- --- --- --- ADGRL3-AS1 101927186 broad.mit.edu 37 4 62960109 62960109 + RNA DEL A A - rs71213030 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:62960109delA ENST00000506704.1 - 0 456 RP11-84A1.3_ENST00000504135.1_RNA|RP11-84A1.3_ENST00000509461.1_RNA gtggggtatgaaaaaaaactc 0.542 4 2 --- --- --- --- RP11-742B18.1 0 broad.mit.edu 37 4 88586288 88586289 + RNA INS - - A rs59297849 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:88586288_88586289insA ENST00000506480.1 - 0 322 RP11-742B18.1_ENST00000507894.1_RNA ctcaaaaaaagaaaaaaaaaaa 0.426 4 2 --- --- --- --- LOC101927087 101927087 broad.mit.edu 37 4 125453843 125453843 + RNA DEL G G - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:125453843delG ENST00000563724.1 - 0 263 TAAAAATATAGGAGAGGTTAT 0.408 2 4 --- --- --- --- RP11-18H21.2 0 broad.mit.edu 37 4 153094968 153094968 + RNA DEL C C - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr4:153094968delC ENST00000504799.1 - 0 86 p.?(1) AAAATGGTCTCCAAGTGTGCT 0.547 2 4 --- --- --- --- CTD-2297D10.2 101929176 broad.mit.edu 37 5 5137668 5137669 + RNA DEL CA CA - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:5137668_5137669delCA ENST00000512155.1 - 0 99 TGGGGAGCGCCACACACACACA 0.594 2 4 --- --- --- --- RP11-124N3.3 0 broad.mit.edu 37 5 19082959 19082959 + RNA DEL G G - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:19082959delG ENST00000504827.1 - 0 289 GAAAGTATGTGGTTGACTTAC 0.323 2 4 --- --- --- --- MEF2C-AS1 101929423 broad.mit.edu 37 5 88328921 88328922 + RNA DEL TC TC - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr5:88328921_88328922delTC ENST00000512585.1 + 0 131 MEF2C-AS1_ENST00000514571.1_RNA|MEF2C-AS1_ENST00000514092.1_RNA|MEF2C-AS1_ENST00000508521.1_RNA CTGGATGGGAtctctctctctc 0.470 4 3 --- --- --- --- LY86-AS1 285780 broad.mit.edu 37 6 6581288 6581289 + RNA INS - - A rs11381372 by1000genomes TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:6581288_6581289insA ENST00000435641.1 - 0 388 LY86-AS1_ENST00000429345.1_RNA|LY86-AS1_ENST00000447858.1_RNA GCAGAGGCCACAGCCAATGAAG 0.441 4 2 --- --- --- --- LY86-AS1 285780 broad.mit.edu 37 6 6585323 6585324 + RNA INS - - CTCCT rs10660732 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr6:6585323_6585324insCTCCT ENST00000435641.1 - 0 388 LY86-AS1_ENST00000429345.1_RNA|LY86-AS1_ENST00000447858.1_RNA ccccttctctcctcctctcctc 0.545 3 3 --- --- --- --- RP4-724E13.2 0 broad.mit.edu 37 7 51003024 51003024 + RNA DEL T T - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:51003024delT ENST00000420449.1 + 0 24 ctttatttccttttttttctt 0.368 2 4 --- --- --- --- RP11-310H4.1 0 broad.mit.edu 37 7 55651286 55651286 + RNA DEL A A - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:55651286delA ENST00000454777.1 + 0 147 ggtgcccaataactctacatt 0.423 2 4 --- --- --- --- PMS2P3 5387 broad.mit.edu 37 7 75142142 75142142 + RNA DEL A A - rs35519730 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr7:75142142delA ENST00000418756.1 - 0 991 NR_028059.1 lung(1) 1 tctcaaaaagaaaaaaaaaaa 0.418 3 3 --- --- --- --- LOC403323 403323 broad.mit.edu 37 9 66534586 66534587 + RNA INS - - C rs61597357 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:66534586_66534587insC ENST00000445604.2 - 0 669 TGAAGCAATTACACATGTTGTC 0.470 3 6 --- --- --- --- LOC101928438 101928438 broad.mit.edu 37 9 102431636 102431636 + RNA DEL T T - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:102431636delT ENST00000427039.1 - 0 319 TGGTTCTGCCTTTTACCCAAT 0.388 2 4 --- --- --- --- RP11-308N19.1 0 broad.mit.edu 37 9 109228522 109228523 + RNA INS - - GT rs35241341 by1000genomes TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr9:109228522_109228523insGT ENST00000435485.1 + 0 171 tgtgtgtgtgcgtgtgtgtgtg 0.450 3 4 --- --- --- --- AL603965.1 0 broad.mit.edu 37 10 47769275 47769275 + Frame_Shift_Del DEL T T - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr10:47769275delT ENST00000335083.5 + 2 374 c.96delT c.(94-96)tgfs p.C32fs GGGGGACTTGTCCCCTGGGAA 0.667 2 4 --- --- --- --- LOC101927708 101927708 broad.mit.edu 37 11 3518200 3518200 + RNA DEL T T - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:3518200delT ENST00000527970.1 - 0 605 RP13-726E6.1_ENST00000534291.1_lincRNA gttcatatagttatgtgtgaa 0.373 2 4 --- --- --- --- SOX6 55553 broad.mit.edu 37 11 16071289 16071290 + Frame_Shift_Ins INS - - TA TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:16071289_16071290insTA ENST00000528252.1 - 10 1513_1514 c.1323_1324insTA c.(1321-1326)aagtcafs p.K441fs SOX6_ENST00000396356.3_Intron|SOX6_ENST00000352083.6_Intron|SOX6_ENST00000528429.1_Intron|SOX6_ENST00000316399.6_Intron|SOX6_ENST00000527619.1_Frame_Shift_Ins_p.K444fs NM_001145811.1 NP_001139283.1 P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 478 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 TGGTGTTGACTTTTCCATTTAC 0.431 131 218 --- --- --- --- RP11-750H9.5 0 broad.mit.edu 37 11 47407862 47407862 + RNA DEL T T - rs34641376 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:47407862delT ENST00000532943.1 - 0 267 RP11-750H9.5_ENST00000532340.1_RNA|RP11-750H9.5_ENST00000527426.1_RNA gtgatccccctgccttggcct 0.483 2 4 --- --- --- --- LOC440040 440040 broad.mit.edu 37 11 49599259 49599259 + RNA DEL T T - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:49599259delT ENST00000527477.1 + 0 1062 GCAGACTCACTTGTTATGCAG 0.299 2 4 --- --- --- --- LOC101927226 101927226 broad.mit.edu 37 11 59392386 59392386 + RNA DEL A A - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:59392386delA ENST00000531311.1 + 0 59 AP000442.1_ENST00000531108.1_RNA actccatctcaaaaaaaaaaa 0.532 2 4 --- --- --- --- RP11-619A14.3 0 broad.mit.edu 37 11 75926641 75926641 + RNA DEL A A - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr11:75926641delA ENST00000531538.1 - 0 39 CAGGGGAGGTATTGTTATTTT 0.577 2 4 --- --- --- --- HOTAIR 100124700 broad.mit.edu 37 12 54365254 54365255 + RNA INS - - T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:54365254_54365255insT ENST00000424518.1 - 0 59 HOTAIR_ENST00000455246.1_RNA NR_003716.3 ACAAGCTACAATTTTTTGTGTC 0.406 2 4 --- --- --- --- RP11-20E24.1 0 broad.mit.edu 37 12 76993076 76993076 + RNA DEL C C - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr12:76993076delC ENST00000551082.1 + 0 121 gggttggggacctctgCTGTA 0.502 2 4 --- --- --- --- IL25 64806 broad.mit.edu 37 14 23845057 23845058 + Frame_Shift_Del DEL TG TG - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:23845057_23845058delTG ENST00000329715.2 + 2 760_761 c.502_503delTG c.(502-504)tfs p.C168fs IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 168 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) TTCCTTAGCTTGTGTGTGTGTG 0.604 7 198 --- --- --- --- RP11-116N8.1 0 broad.mit.edu 37 14 36425913 36425913 + RNA DEL T T - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr14:36425913delT ENST00000550089.1 + 0 242 CCATTCAACCTTTTTTTCTGA 0.493 2 4 --- --- --- --- RP11-382A20.5 0 broad.mit.edu 37 15 83749077 83749078 + RNA INS - - T rs111569387 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr15:83749077_83749078insT ENST00000566841.1 + 0 734 RP11-382A20.6_ENST00000568441.1_RNA CAAAAATTCCAttttttttttt 0.450 3 5 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32093362 32093362 + RNA DEL T T - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr16:32093362delT ENST00000566806.1 - 0 499 TTCAGGTTGCTTTTTTTTTCC 0.438 3 6 --- --- --- --- HERC2P4 100289574 broad.mit.edu 37 16 32123215 32123215 + RNA DEL G G - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr16:32123215delG ENST00000564145.1 - 0 456 tattctagaaGGATAAATTAT 0.343 7 9 --- --- --- --- LINC01572 101927957 broad.mit.edu 37 16 72658568 72658569 + RNA DEL AC AC - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr16:72658568_72658569delAC ENST00000561611.2 - 0 113 acacacacaaacacacacacac 0.485 2 4 --- --- --- --- COPS3 8533 broad.mit.edu 37 17 17179429 17179429 + Frame_Shift_Del DEL A A - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr17:17179429delA ENST00000539941.2 - 2 253 c.45delT c.(43-45)ctfs p.L15fs COPS3_ENST00000268717.5_Frame_Shift_Del_p.L35fs|COPS3_ENST00000439936.2_Frame_Shift_Del_p.L15fs NM_001199125.1 NP_001186054.1 Q9UNS2 CSN3_HUMAN COP9 signalosome subunit 3 35 cullin deneddylation|response to light stimulus|signal transduction cytoplasm|signalosome protein binding NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 AGTTCTTCGCAAGGAGTTCCC 0.463 34 85 --- --- --- --- AC007204.2 0 broad.mit.edu 37 19 20055260 20055260 + RNA DEL C C - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:20055260delC ENST00000592245.1 + 0 72 ctgctagccaccctccccttc 0.577 2 4 --- --- --- --- PRKD2 25865 broad.mit.edu 37 19 47207846 47207847 + Frame_Shift_Ins INS - - CC rs144404837 byFrequency TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr19:47207846_47207847insCC ENST00000433867.1 - 5 1048_1049 c.571_572insGG c.(571-573)ccgfs p.P191fs PRKD2_ENST00000291281.4_Frame_Shift_Ins_p.P191fs|PRKD2_ENST00000601806.1_Frame_Shift_Ins_p.P34fs|PRKD2_ENST00000595515.1_Frame_Shift_Ins_p.P191fs|PRKD2_ENST00000600194.1_Frame_Shift_Ins_p.P34fs NM_001079880.1|NM_001079881.1|NM_016457.4 NP_001073349.1|NP_001073350.1|NP_057541.2 Q9BZL6 KPCD2_HUMAN protein kinase D2 191 cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 41 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) CCGTTTGCGGGCCCCACTACAG 0.658 OREG0025578 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 58 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29595845 29595845 + RNA DEL A A - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr20:29595845delA ENST00000432067.1 - 0 74 acacagtgagaccttgtccct 0.473 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11048361 11048361 + RNA DEL A A - rs71293628 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr21:11048361delA ENST00000470054.1 - 0 659 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) AGGGGAAGAGAAAAAAACAGG 0.408 3 3 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11084479 11084479 + RNA DEL A A - rs112755619 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr21:11084479delA ENST00000470054.1 - 0 324 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) AGGGGGTCATAAAACCAGAAA 0.413 6 10 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11092161 11092164 + RNA DEL TTTG TTTG - rs142087979 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr21:11092161_11092164delTTTG ENST00000470054.1 - 0 324 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) TCCTAGGTTTTTTGTTGTTGtttg 0.402 3 6 --- --- --- --- LOC101928233 101928233 broad.mit.edu 37 21 44019847 44019847 + RNA DEL G G - rs67573699 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr21:44019847delG ENST00000419628.1 - 0 1317 tgtggagggtgggggggggta 0.632 3 4 --- --- --- --- RP1-231P7P.1 0 broad.mit.edu 37 22 27969425 27969425 + RNA DEL C C - rs35207321 TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr22:27969425delC ENST00000415655.1 - 0 66 CTTTCGAAGAcccccccgctg 0.507 4 3 --- --- --- --- CTA-833B7.2 0 broad.mit.edu 37 22 37252792 37252792 + RNA DEL A A - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chr22:37252792delA ENST00000330602.2 - 0 349 GGGAGGGACCAAGCCACAGCA 0.463 OREG0026526 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- LAMP2 3920 broad.mit.edu 37 X 119602967 119602967 + Frame_Shift_Del DEL C C - TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e878a6af-4760-42db-a84c-cb18ab32f56a 899c5bb0-7b50-4f87-8773-7cd93a46cf23 g.chrX:119602967delC ENST00000371335.4 - 1 194 c.58delG c.(58-60)tcfs p.V20fs LAMP2_ENST00000434600.2_Frame_Shift_Del_p.V20fs|LAMP2_ENST00000200639.4_Frame_Shift_Del_p.V20fs|LAMP2_ENST00000538785.1_Frame_Shift_Del_p.V20fs NM_013995.2 NP_054701.1 P13473 LAMP2_HUMAN lysosomal-associated membrane protein 2 20 platelet activation|platelet degranulation endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2) 15 TCACCCAGGACTAGGCAGACC 0.677 74 13 --- --- --- ---