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 UBL4B 164153 broad.mit.edu 37 1 110655410 110655410 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr1:110655410C>T ENST00000334179.3 + 1 349 c.254C>T c.(253-255)cCg>cTg p.P85L NM_203412.1 NP_981957.1 Q8N7F7 UBL4B_HUMAN ubiquitin-like 4B 85 cytoplasm endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 7 all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134) GCCCACCAGCCGCAGACCCAG 0.577000 14 36 0 0 0.479597 0 0 LSG1 55341 broad.mit.edu 37 3 194392825 194392825 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr3:194392825G>A ENST00000265245.5 - 1 381 c.67C>T c.(67-69)Cgg>Tgg p.R23W LSG1_ENST00000480853.1_Intron NM_018385.2 NP_060855.2 Q9H089 LSG1_HUMAN large 60S subunit nuclear export GTPase 1 23 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9) 16 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) CTTCGGCTCCGCTGAGTCTGA 0.597000 13 24 0 0 0.479597 0 0 SLITRK5 26050 broad.mit.edu 37 13 88329806 88329806 + Silent SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr13:88329806C>T ENST00000325089.6 + 2 2382 c.2163C>T c.(2161-2163)ggC>ggT p.G721G SLITRK5_ENST00000400028.3_Silent_p.G480G NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 721 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GCGGCGGCGGCGGCACGGGCG 0.652000 16 33 0 0 0.539581 0 0 ATP12A 479 broad.mit.edu 37 13 25266965 25266965 + Silent SNP A A G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr13:25266965A>G ENST00000218548.6 + 10 1659 c.1326A>G c.(1324-1326)ttA>ttG p.L442L ATP12A_ENST00000381946.3_Silent_p.L436L NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 436 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GGGCCTCCTTATCCAAGATAA 0.483000 57 147 0 0 0.870114 0 0 CASP8 841 broad.mit.edu 37 2 202149659 202149659 + Missense_Mutation SNP A A G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr2:202149659A>G ENST00000358485.4 + 8 1296 c.1100A>G c.(1099-1101)gAc>gGc p.D367G CASP8_ENST00000323492.7_Missense_Mutation_p.D293G|CASP8_ENST00000432109.2_Missense_Mutation_p.D308G|CASP8_ENST00000264275.5_Missense_Mutation_p.D325G|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Missense_Mutation_p.D224G NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 308 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 AGTAACATGGACTGCTTCATC 0.468000 HNSCC(4;0.00038) 62 38 0 0 0.870114 0 0 SLC36A2 153201 broad.mit.edu 37 5 150723750 150723750 + Silent SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr5:150723750G>A ENST00000335244.4 - 2 372 c.243C>T c.(241-243)aaC>aaT p.N81N SLC36A2_ENST00000521967.1_Silent_p.N81N NM_181776.2 NP_861441.2 Q495M3 S36A2_HUMAN solute carrier family 36 (proton/amino acid symporter), member 2 81 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGATGCCCGCGTTCTTCACAG 0.547000 5 17 0 0 0.248553 0 0 MAP4 4134 broad.mit.edu 37 3 47912526 47912526 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr3:47912526G>A ENST00000426837.2 - 15 6158 c.6071C>T c.(6070-6072)gCc>gTc p.A2024V MAP4_ENST00000360240.6_Missense_Mutation_p.A879V|MAP4_ENST00000383737.4_Missense_Mutation_p.A607V|MAP4_ENST00000441748.2_Missense_Mutation_p.A31V|MAP4_ENST00000395734.3_Missense_Mutation_p.A879V|MAP4_ENST00000420772.2_Missense_Mutation_p.A610V|MAP4_ENST00000264724.11_Missense_Mutation_p.A614V P27816 MAP4_HUMAN microtubule-associated protein 4 879 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) TGCAGCGGGGGCTGTCCCACT 0.587000 18 41 0 0 0.520397 0 0 PIP5K1A 8394 broad.mit.edu 37 1 151204248 151204248 + Missense_Mutation SNP C C G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr1:151204248C>G ENST00000409426.1 + 4 748 c.303C>G c.(301-303)ttC>ttG p.F101L PIP5K1A_ENST00000441902.2_Missense_Mutation_p.F101L|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.F113L|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.F100L Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, alpha 113 PIPK. phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1) 5 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;0.181) TGCAAGATTTCTACGTGGTTG 0.483000 27 54 0 0 0.693898 0 0 CHM 1121 broad.mit.edu 37 X 85302517 85302517 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chrX:85302517G>A ENST00000357749.2 - 1 49 c.20C>T c.(19-21)tCg>tTg p.S7L CHM_ENST00000537751.1_5'UTR|CHM_ENST00000358786.4_Missense_Mutation_p.S7L NM_000390.2 NP_000381.1 P24386 RAE1_HUMAN choroideremia (Rab escort protein 1) 7 intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1) 20 all_lung(315;5.41e-06) ATCAAACTCCGAAGGGAGAGT 0.468000 7 4 0 0 0.278610 0 0 CSAG4 100130935 broad.mit.edu 37 X 151896334 151896334 + RNA SNP G G A rs2515828 by1000genomes TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chrX:151896334G>A ENST00000361201.4 - 0 396 NR_073432.1 p.P26P(2) endometrium(2)|kidney(2)|lung(1) 5 GTTCCCTTCCGGGTTGTCTTG 0.527000 4 50 0 0 0.184627 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84605930 84605930 + Missense_Mutation SNP A A T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr9:84605930A>T ENST00000344803.2 + 4 592 c.545A>T c.(544-546)gAa>gTa p.E182V NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 ACCCCTCCAGAAGACCTAATA 0.547000 20 59 0 0 0.592651 0 0 ABCA2 20 broad.mit.edu 37 9 139912245 139912245 + Silent SNP G G C TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr9:139912245G>C ENST00000265662.5 - 16 2352 c.2205C>G c.(2203-2205)ctC>ctG p.L735L ABCA2_ENST00000371605.3_Silent_p.L734L|ABCA2_ENST00000341511.6_Silent_p.L735L Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 734 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GCACCTCCTTGAGCCGGTGCT 0.692000 5 15 0 0 0.184627 0 0 TNFRSF25 8718 broad.mit.edu 37 1 6524760 6524760 + Missense_Mutation SNP C C G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr1:6524760C>G ENST00000377782.3 - 4 382 c.315G>C c.(313-315)gaG>gaC p.E105D TNFRSF25_ENST00000356876.3_Missense_Mutation_p.E105D|TNFRSF25_ENST00000351959.5_Missense_Mutation_p.E105D|TNFRSF25_ENST00000351748.3_Intron|TNFRSF25_ENST00000461703.2_5'UTR|TNFRSF25_ENST00000348333.3_Missense_Mutation_p.E60D NM_148965.1 NP_683866.1 Q93038 TNR25_HUMAN tumor necrosis factor receptor superfamily, member 25 105 apoptosis|induction of apoptosis by extracellular signals cytosol|extracellular region|integral to plasma membrane tumor necrosis factor receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1) 10 Ovarian(185;0.0386)|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)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419) CTGAACAGTTCTCCAGCGCCA 0.607000 17 24 0 0 0.520397 0 0 FAM135B 51059 broad.mit.edu 37 8 139268962 139268962 + Missense_Mutation SNP A A G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr8:139268962A>G ENST00000395297.1 - 5 508 c.338T>C c.(337-339)gTg>gCg p.V113A NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 113 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) GTGCAGATCCACCTTGAGTTG 0.438000 HNSCC(54;0.14) 3 25 0 0 0.115264 0 0 OR5T1 390155 broad.mit.edu 37 11 56043262 56043262 + Missense_Mutation SNP A A G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr11:56043262A>G ENST00000313033.2 + 1 234 c.148A>G c.(148-150)Act>Gct p.T50A NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T50P(1) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) CTATCTATTCACTCTAATAGG 0.338000 19 49 0 0 0.557998 0 0 ANKRD1 27063 broad.mit.edu 37 10 92678707 92678707 + Missense_Mutation SNP G G A rs145387010 TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr10:92678707G>A ENST00000371697.3 - 4 616 c.368C>T c.(367-369)aCg>aTg p.T123M NM_014391.2 NP_055206.2 Q15327 ANKR1_HUMAN ankyrin repeat domain 1 (cardiac muscle) 123 cellular lipid metabolic process|defense response|signal transduction DNA binding autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1) 27 Colorectal(252;0.0475) CTTCAGAAACGTAGGCACATC 0.368000 8 35 0 0 0.278610 0 0 KIAA1199 57214 broad.mit.edu 37 15 81181917 81181917 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr15:81181917G>A ENST00000394685.3 + 10 1489 c.1070G>A c.(1069-1071)cGt>cAt p.R357H KIAA1199_ENST00000220244.3_Missense_Mutation_p.R357H|KIAA1199_ENST00000356249.5_Missense_Mutation_p.R357H Q8WUJ3 K1199_HUMAN KIAA1199 357 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 ATATGCAATCGTCCCATTGAT 0.393000 13 41 0 0 0.435327 0 0 BUB1 699 broad.mit.edu 37 2 111419371 111419371 + Silent SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr2:111419371C>T ENST00000535254.1 - 9 1012 c.945G>A c.(943-945)ctG>ctA p.L315L BUB1_ENST00000302759.6_Silent_p.L335L|BUB1_ENST00000409311.1_Silent_p.L335L NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 335 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) ATGGCGCTCTCAGTTCCTGCT 0.453000 25 48 0 0 0.639603 0 0 SALL1 6299 broad.mit.edu 37 16 51175913 51175913 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr16:51175913C>T ENST00000251020.4 - 2 253 c.220G>A c.(220-222)Gta>Ata p.V74I SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_5'UTR|SALL1_ENST00000566102.1_Intron NM_002968.2 NP_002959.2 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 74 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) TTTTCATTTACGATTAAAACT 0.448000 27 57 0 0 0.667858 0 0 TRIM8 81603 broad.mit.edu 37 10 104416918 104416918 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr10:104416918C>T ENST00000302424.6 + 6 1585 c.1463C>T c.(1462-1464)cCc>cTc p.P488L NM_030912.2 NP_112174.2 Q9BZR9 TRIM8_HUMAN tripartite motif containing 8 488 cytoplasm|PML body ligase activity|protein homodimerization activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CAGCCCTACCCCCGCTCCGGC 0.657000 10 26 0 0 0.335167 0 0 LINC00173 100287569 broad.mit.edu 37 12 116972499 116972499 + RNA SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr12:116972499C>T ENST00000480237.1 + 0 770 NR_027345.1 GTACAACTGACAGTGCCATCA 0.443000 19 32 0 0 0.575678 0 0 GPBP1 65056 broad.mit.edu 37 5 56546873 56546873 + Missense_Mutation SNP G G C TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr5:56546873G>C ENST00000424459.3 + 11 2399 c.1125G>C c.(1123-1125)gaG>gaC p.E375D GPBP1_ENST00000514387.2_Missense_Mutation_p.E184D|GPBP1_ENST00000538707.1_Missense_Mutation_p.E362D|GPBP1_ENST00000511209.1_Missense_Mutation_p.E347D|GPBP1_ENST00000506184.2_Missense_Mutation_p.E355D|GPBP1_ENST00000454432.2_Missense_Mutation_p.E375D|GPBP1_ENST00000264779.6_Missense_Mutation_p.E362D NM_022913.3 NP_075064.1 Q86WP2 GPBP1_HUMAN GC-rich promoter binding protein 1 355 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 19 Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222) OV - Ovarian serous cystadenocarcinoma(10;7.64e-39) TTCCTCAAGAGAATGGCAATG 0.398000 12 38 0 0 0.387290 0 0 FBP1 2203 broad.mit.edu 37 9 97369181 97369181 + Silent SNP A A G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr9:97369181A>G ENST00000415431.1 - 6 850 c.621T>C c.(619-621)ggT>ggC p.G207G FBP1_ENST00000375326.4_Silent_p.G207G NM_001127628.1 NP_001121100.1 P09467 F16P1_HUMAN fructose-1,6-bisphosphatase 1 207 gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding kidney(1)|liver(1)|lung(1) 3 Acute lymphoblastic leukemia(62;0.136) Adenosine monophosphate(DB00131) TGTAGATTTTACCTTTCTTTT 0.512000 39 45 0 0 0.819951 0 0 GAP43 2596 broad.mit.edu 37 3 115395076 115395076 + Missense_Mutation SNP G G C TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr3:115395076G>C ENST00000393780.3 + 3 823 c.355G>C c.(355-357)Gaa>Caa p.E119Q GAP43_ENST00000305124.6_Missense_Mutation_p.E83Q NM_001130064.1 NP_001123536.1 P17677 NEUM_HUMAN growth associated protein 43 83 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 32 GBM - Glioblastoma multiforme(114;0.164) GAAGAAGGGAGAAGGCACCAC 0.562000 10 21 0 0 0.335167 0 0 MRPL45 84311 broad.mit.edu 37 17 36453192 36453192 + Missense_Mutation SNP T T G rs139299251 by1000genomes TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr17:36453192T>G ENST00000312513.5 + 1 204 c.43T>G c.(43-45)Ttt>Gtt p.F15V NM_032351.4 NP_115727.4 Q9BRJ2 RM45_HUMAN mitochondrial ribosomal protein L45 15 intracellular protein transport|translation mitochondrial inner membrane presequence translocase complex|ribosome P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 13 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TTTATCGAGGTTTTTGGGCTG 0.582000 5 50 0 0 0.307466 0 0 KRT78 196374 broad.mit.edu 37 12 53238435 53238435 + Missense_Mutation SNP C C G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr12:53238435C>G ENST00000359499.4 - 5 510 c.499G>C c.(499-501)Gac>Cac p.D167H KRT78_ENST00000304620.4_Missense_Mutation_p.D277H Q8N1N4 K2C78_HUMAN keratin 78 277 Coil 1B.|Rod. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 CTGCTGAAGTCCAGGTAGCGG 0.627000 23 39 0 0 0.608945 0 0 NAA30 122830 broad.mit.edu 37 14 57857726 57857726 + Silent SNP T T G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr14:57857726T>G ENST00000556492.1 + 2 205 c.51T>G c.(49-51)ccT>ccG p.P17P NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Intron NM_001011713.2 NP_001011713.2 Q147X3 NAA30_HUMAN N(alpha)-acetyltransferase 30, NatC catalytic subunit 17 Pro-rich. cytoplasm peptide alpha-N-acetyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2) 13 CACCAGCACCTCCGGCCCCGG 0.721000 4 10 0 0 0.150653 0 0 MAP7 9053 broad.mit.edu 37 6 136687111 136687111 + Silent SNP C C T rs143331676 byFrequency TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr6:136687111C>T ENST00000354570.3 - 10 1445 c.1035G>A c.(1033-1035)ccG>ccA p.P345P MAP7_ENST00000454590.1_Silent_p.P367P|MAP7_ENST00000432797.2_Silent_p.P199P|MAP7_ENST00000544465.1_Silent_p.P330P|MAP7_ENST00000438100.2_Silent_p.P330P NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4 NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1 Q14244 MAP7_HUMAN microtubule-associated protein 7 345 Pro-rich. establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) AGGAGGATGTCGGTCTGGGTG 0.592000 15 42 0 0 0.520397 0 0 GUCD1 83606 broad.mit.edu 37 22 24943916 24943916 + Missense_Mutation SNP C C A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr22:24943916C>A ENST00000435822.1 - 3 578 c.254G>T c.(253-255)tGt>tTt p.C85F GUCD1_ENST00000407471.3_Missense_Mutation_p.C85F|GUCD1_ENST00000447813.2_Missense_Mutation_p.C85F|GUCD1_ENST00000402766.1_Missense_Mutation_p.C85F|GUCD1_ENST00000404664.3_Missense_Mutation_p.C141F|GUCD1_ENST00000490922.1_5'UTR NM_031444.2 NP_113632.2 guanylyl cyclase domain containing 1 GGTCTGGGTACAGAAGCGGTG 0.602000 19 35 5.35267e-07 5.65853e-07 0.557998 1 0 KIAA1217 56243 broad.mit.edu 37 10 24834871 24834871 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr10:24834871C>T ENST00000376454.3 + 21 5480 c.5450C>T c.(5449-5451)tCt>tTt p.S1817F KIAA1217_ENST00000376452.3_Missense_Mutation_p.S1248F|KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S1138F|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S1223F NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 1817 Ser-rich. 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 TCTCTGCCCTCTTCTAGTGGT 0.512000 43 91 0 0 0.840704 0 0 DNAJB8 165721 broad.mit.edu 37 3 128181438 128181438 + Silent SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr3:128181438C>T ENST00000469083.1 - 2 3208 c.651G>A c.(649-651)tcG>tcA p.S217S DNAJB8_ENST00000319153.3_Silent_p.S217S Q8NHS0 DNJB8_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 8 217 protein folding heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.177) TCACAGTCACCGACTTGAGCT 0.632000 28 67 0 0 0.750413 0 0 SLIT2 9353 broad.mit.edu 37 4 20258327 20258327 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr4:20258327C>T ENST00000504154.1 + 2 464 c.212C>T c.(211-213)aCg>aTg p.T71M SLIT2_ENST00000273739.5_Missense_Mutation_p.T71M|SLIT2_ENST00000503823.1_Missense_Mutation_p.T71M|SLIT2_ENST00000503837.1_Missense_Mutation_p.T71M NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 71 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 p.T71M(1) 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 ACAAGAATTACGAAGACAGAT 0.294000 14 28 0 0 0.500413 0 0 IRF6 3664 broad.mit.edu 37 1 209969813 209969813 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr1:209969813G>A ENST00000367021.3 - 4 431 c.259C>T c.(259-261)Ctc>Ttc p.L87F IRF6_ENST00000542854.1_5'UTR NM_006147.3 NP_006138.1 O14896 IRF6_HUMAN interferon regulatory factor 6 87 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) CTCTTATTGAGAGCACAGCGC 0.527000 HNSCC(57;0.16) 18 35 0 0 0.539581 0 0 PLEC 5339 broad.mit.edu 37 8 144992793 144992793 + Silent SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr8:144992793G>A ENST00000322810.4 - 32 11776 c.11607C>T c.(11605-11607)ttC>ttT p.F3869F PLEC_ENST00000345136.3_Silent_p.F3732F|PLEC_ENST00000398774.2_Silent_p.F3700F|PLEC_ENST00000354958.2_Silent_p.F3710F|PLEC_ENST00000356346.3_Silent_p.F3718F|PLEC_ENST00000436759.2_Silent_p.F3759F|PLEC_ENST00000527096.1_Silent_p.F3755F|PLEC_ENST00000357649.2_Silent_p.F3736F|PLEC_ENST00000354589.3_Silent_p.F3732F NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3869 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GGTCCAGCAGGAAGCCTGTGG 0.672000 10 33 0 0 0.387290 0 0 RIMS1 22999 broad.mit.edu 37 6 72889449 72889449 + Nonsense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr6:72889449C>T ENST00000264839.7 + 5 643 c.643C>T c.(643-645)Cga>Tga p.R215* RIMS1_ENST00000522291.1_Nonsense_Mutation_p.R215*|RIMS1_ENST00000521978.1_Nonsense_Mutation_p.R215*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.R215*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.R215*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.R215*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.R215*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.R215* Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 215 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) ACTCCAAGAGCGATCGCGGTC 0.587000 12 40 0 0 0.435327 0 0 KIAA0101 9768 broad.mit.edu 37 15 64669065 64669065 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr15:64669065C>T ENST00000300035.4 - 3 305 c.167G>A c.(166-168)cGc>cAc p.R56H KIAA0101_ENST00000380258.2_Intron|KIAA0101_ENST00000559519.1_Missense_Mutation_p.R29H|KIAA0101_ENST00000560234.1_Missense_Mutation_p.A57T|KIAA0101_ENST00000558008.1_Missense_Mutation_p.R56H NM_014736.4 NP_055551.1 Q15004 PAF_HUMAN KIAA0101 56 mitochondrion|nucleus p.R56P(1) central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1) 3 GGGAGTTGGGCGCACGCAAAC 0.393000 13 28 0 0 0.435327 0 0 ATP2B3 492 broad.mit.edu 37 X 152813447 152813447 + Silent SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chrX:152813447C>T ENST00000370186.1 + 7 1397 c.1071C>T c.(1069-1071)atC>atT p.I357I ATP2B3_ENST00000393842.1_Silent_p.I357I|ATP2B3_ENST00000359149.3_Silent_p.I371I|ATP2B3_ENST00000349466.2_Silent_p.I371I|ATP2B3_ENST00000263519.4_Silent_p.I371I|ATP2B3_ENST00000370181.2_Silent_p.I357I Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 371 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCGTGCAGATCGGGAAAGCAG 0.597000 12 22 0 0 0.411799 0 0 ZNF215 7762 broad.mit.edu 37 11 6977464 6977464 + Missense_Mutation SNP G G A rs139686178 TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr11:6977464G>A ENST00000278319.5 + 7 1844 c.1256G>A c.(1255-1257)cGt>cAt p.R419H ZNF215_ENST00000414517.2_Missense_Mutation_p.R419H|ZNF215_ENST00000529903.1_Intron NM_013250.2 NP_037382.2 Q9UL58 ZN215_HUMAN zinc finger protein 215 419 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) TTCAACCGACGTACAAACCTT 0.408000 20 30 0 0 0.575678 0 0 IGSF1 3547 broad.mit.edu 37 X 130416550 130416550 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chrX:130416550C>T ENST00000370904.1 - 13 1997 c.1087G>A c.(1087-1089)Gat>Aat p.D363N IGSF1_ENST00000370910.1_Missense_Mutation_p.D363N|IGSF1_ENST00000370903.3_Missense_Mutation_p.D372N|IGSF1_ENST00000361420.3_Missense_Mutation_p.D372N Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 372 Ig-like C2-type 4. 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 GTGTTGTCATCGATGCTGGTG 0.468000 38 28 0 0 0.804634 0 0 APOB 338 broad.mit.edu 37 2 21233458 21233458 + Silent SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr2:21233458G>A ENST00000233242.1 - 26 6409 c.6282C>T c.(6280-6282)aaC>aaT p.N2094N NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2094 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTCTCTGTACGTTTTCCAGTA 0.363000 10 40 0 0 0.335167 0 0 FBXO21 23014 broad.mit.edu 37 12 117595803 117595803 + Silent SNP C C A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr12:117595803C>A ENST00000427718.2 - 10 1466 c.1392G>T c.(1390-1392)ctG>ctT p.L464L FBXO21_ENST00000330622.5_Silent_p.L471L NM_015002.2|NM_033624.2 NP_055817.1|NP_296373.1 O94952 FBX21_HUMAN F-box protein 21 471 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 29 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) TGTGCTGCACCAGGTAGCCCA 0.532000 61 166 1.08141e-31 1.19439e-31 0.870114 1 0 HRAS 3265 broad.mit.edu 37 11 534285 534285 + Missense_Mutation SNP C C A rs104894226 TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr11:534285C>A ENST00000417302.1 - 2 225 c.38G>T c.(37-39)gGt>gTt p.G13V HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000451590.1_Missense_Mutation_p.G13V|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 13 G -> C (in FCSS).|G -> D (in FCSS). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) CTTGCCCACACCGCCGGCGCC 0.642000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 10 14 4.68919e-08 4.99281e-08 0.361761 1 0 BCAS1 8537 broad.mit.edu 37 20 52644969 52644969 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr20:52644969C>T ENST00000395961.3 - 4 851 c.685G>A c.(685-687)Ggc>Agc p.G229S BCAS1_ENST00000371440.3_Missense_Mutation_p.G229S|BCAS1_ENST00000371435.2_Missense_Mutation_p.G229S|BCAS1_ENST00000411563.1_Missense_Mutation_p.G132S NM_003657.2 NP_003648.2 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 229 cytoplasm protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) CCTGATAAGCCAGGAACCTCA 0.532000 52 144 0 0 0.870114 0 0 OR10A2 341276 broad.mit.edu 37 11 6891679 6891679 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr11:6891679C>T ENST00000307322.4 + 1 756 c.694C>T c.(694-696)Ctc>Ttc p.L232F NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TTCCTCACACCTCCTTGTTGT 0.423000 109 46 0 0 0.870114 0 0 TLN1 7094 broad.mit.edu 37 9 35720835 35720835 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr9:35720835C>T ENST00000314888.9 - 11 1533 c.1180G>A c.(1180-1182)Ggc>Agc p.G394S TLN1_ENST00000540444.1_Missense_Mutation_p.G394S NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 394 FERM.|Interaction with LAYN (By similarity). axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TCGATGTAGCCGGCAATGAGC 0.512000 9 95 0 0 0.411799 0 0 SPNS3 201305 broad.mit.edu 37 17 4351571 4351571 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr17:4351571G>A ENST00000355530.2 + 6 1023 c.743G>A c.(742-744)tGt>tAt p.C248Y SPNS3_ENST00000333476.2_Missense_Mutation_p.C121Y|SPNS3_ENST00000576069.1_3'UTR NM_182538.4 NP_872344.3 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 (Drosophila) 248 lipid transport|transmembrane transport integral to membrane NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2) 28 AGCAGCTGGTGTGAGGACGTC 0.612000 13 13 0 0 0.479597 0 0 AFAP1 60312 broad.mit.edu 37 4 7795475 7795475 + Silent SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr4:7795475G>A ENST00000420658.1 - 11 1617 c.1345C>T c.(1345-1347)Ctg>Ttg p.L449L AFAP1_ENST00000360265.4_Silent_p.L449L|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000382543.3_Silent_p.L449L|AFAP1_ENST00000358461.2_Silent_p.L449L NM_001134647.1 NP_001128119.1 Q8N556 AFAP1_HUMAN actin filament associated protein 1 449 actin cytoskeleton|cytoplasm|focal adhesion actin binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 TCATAGTGCAGAGCCTCCGGG 0.498000 23 74 0 0 0.624587 0 0 TRERF1 55809 broad.mit.edu 37 6 42224469 42224469 + Silent SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr6:42224469C>T ENST00000541110.1 - 12 3205 c.2637G>A c.(2635-2637)gtG>gtA p.V879V TRERF1_ENST00000372917.4_Silent_p.V776V|TRERF1_ENST00000354325.2_Silent_p.V776V|TRERF1_ENST00000340840.2_Silent_p.V776V|TRERF1_ENST00000372922.4_Silent_p.V859V Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 859 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TCCTTACCATCACATCACCTT 0.403000 14 37 0 0 0.479597 0 0 ADCY2 108 broad.mit.edu 37 5 7773108 7773108 + Missense_Mutation SNP G G C TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr5:7773108G>C ENST00000338316.4 + 18 2367 c.2278G>C c.(2278-2280)Gag>Cag p.E760Q ADCY2_ENST00000537121.1_Missense_Mutation_p.E580Q NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 760 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 GGTAAACTATGAGCTGAAGAT 0.502000 30 75 0 0 0.760397 0 0 CCDC180 100499483 broad.mit.edu 37 9 100071844 100071844 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr9:100071844G>A ENST00000375202.2 + 17 1702 c.350G>A c.(349-351)aGc>aAc p.S117N CCDC180_ENST00000395220.1_Missense_Mutation_p.S256N|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.S117N|CCDC180_ENST00000411667.2_Missense_Mutation_p.S117N|CCDC180_ENST00000357054.1_Missense_Mutation_p.S256N coiled-coil domain containing 180 TGGATGCACAGCCTCCCCAAC 0.547000 13 38 0 0 0.457914 0 0 UBXN2A 165324 broad.mit.edu 37 2 24222567 24222567 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr2:24222567G>A ENST00000309033.4 + 7 854 c.610G>A c.(610-612)Gaa>Aaa p.E204K UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000404924.1_Missense_Mutation_p.E204K|UBXN2A_ENST00000535786.1_Missense_Mutation_p.E151K NM_181713.3 NP_859064.2 P68543 UBX2A_HUMAN UBX domain protein 2A 204 UBX. endometrium(1)|large_intestine(3)|liver(1)|lung(6) 11 AGACTTCATTGAAAAATACCA 0.363000 19 36 0 0 0.575678 0 0 OR6A2 8590 broad.mit.edu 37 11 6816910 6816910 + Silent SNP C C G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr11:6816910C>G ENST00000332601.3 - 1 218 c.30G>C c.(28-30)gtG>gtC p.V10V NM_003696.2 NP_003687.2 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, member 2 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 29 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CAAACTCACTCACTCTCCCAC 0.512000 13 41 0 0 0.457914 0 0 SHH 6469 broad.mit.edu 37 7 155599120 155599120 + Silent SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr7:155599120G>A ENST00000297261.2 - 2 582 c.432C>T c.(430-432)cgC>cgT p.R144R NM_000193.2 NP_000184.1 Q15465 SHH_HUMAN sonic hedgehog 144 R -> P (in HPE3). androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development cell surface|extracellular space|membrane raft|plasma membrane calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00882) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGTCCACTGCGCGGCCCTCGT 0.642000 13 18 0 0 0.411799 0 0 IFT140 9742 broad.mit.edu 37 16 1657244 1657244 + Missense_Mutation SNP C C A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr16:1657244C>A ENST00000426508.2 - 3 387 c.24G>T c.(22-24)caG>caT p.Q8H LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) 8 breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) GGGCTTCTATCTGGTGGTCAT 0.488000 19 72 1.15919e-05 1.20817e-05 0.575678 1 0 PCDH7 5099 broad.mit.edu 37 4 30726069 30726069 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr4:30726069C>T ENST00000361762.2 + 1 4033 c.3025C>T c.(3025-3027)Ccc>Tcc p.P1009S PCDH7_ENST00000543491.1_Missense_Mutation_p.P1009S NM_002589.2 NP_002580.2 O60245 PCDH7_HUMAN protocadherin 7 1009 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 TCAGCTTCATCCCCAGTCACC 0.507000 13 29 0 0 0.435327 0 0 ABCC8 6833 broad.mit.edu 37 11 17428294 17428294 + Silent SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr11:17428294C>T ENST00000302539.4 - 26 3332 c.3207G>A c.(3205-3207)acG>acA p.T1069T ABCC8_ENST00000389817.3_Silent_p.T1068T NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1068 ABC transmembrane type-1 2. VL -> AV (in Ref. 1; AAB02278/AAB02417/ AAB02418). carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) TGCAGAGCACCGTGAACACCA 0.602000 28 18 0 0 0.717897 0 0 BEND3 57673 broad.mit.edu 37 6 107390676 107390676 + Silent SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr6:107390676G>A ENST00000429433.2 - 5 2368 c.1719C>T c.(1717-1719)ttC>ttT p.F573F BEND3_ENST00000369042.1_Silent_p.F573F NM_001080450.2 NP_001073919.1 Q5T5X7 BEND3_HUMAN BEN domain containing 3 573 BEN 3. central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3) 30 GGCGCGAGGCGAAGTTGCCGA 0.637000 27 40 0 0 0.740014 0 0 CDH11 1009 broad.mit.edu 37 16 65006889 65006889 + Silent SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr16:65006889C>T ENST00000394156.3 - 9 1761 c.1308G>A c.(1306-1308)gaG>gaA p.E436E CDH11_ENST00000268603.4_Silent_p.E436E|CDH11_ENST00000566827.1_Silent_p.E310E P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 436 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) TAAAACCATCCTCTGGATTAA 0.413000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 10 44 0 0 0.361761 0 0 SPHK2 56848 broad.mit.edu 37 19 49132292 49132292 + Silent SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr19:49132292G>A ENST00000443164.1 + 5 2118 c.1413G>A c.(1411-1413)ccG>ccA p.P471P SPHK2_ENST00000599029.1_Silent_p.P373P|SPHK2_ENST00000245222.4_Silent_p.P409P|SPHK2_ENST00000599748.1_Silent_p.P373P|SPHK2_ENST00000340932.3_Silent_p.P371P|SPHK2_ENST00000600537.1_Silent_p.P350P|SPHK2_ENST00000598088.1_Silent_p.P409P Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 409 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) Acccagccccgcccatggccc 0.682000 8 22 0 0 0.278610 0 0 TULP2 7288 broad.mit.edu 37 19 49399725 49399725 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr19:49399725C>T ENST00000221399.3 - 4 317 c.173G>A c.(172-174)cGc>cAc p.R58H NM_003323.2 NP_003314.2 O00295 TULP2_HUMAN tubby like protein 2 58 visual perception cytoplasm|extracellular region NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 22 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) CAGACAAGAGCGCCAAAGCCA 0.637000 17 29 0 0 0.500413 0 0 TNKS 8658 broad.mit.edu 37 8 9564372 9564372 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr8:9564372G>A ENST00000310430.6 + 8 1347 c.1321G>A c.(1321-1323)Gag>Aag p.E441K TNKS_ENST00000520408.1_Missense_Mutation_p.E441K|TNKS_ENST00000518281.1_Missense_Mutation_p.E204K|TNKS_ENST00000518027.1_3'UTR NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 441 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) TCCACTGCACGAGGCTGCTTC 0.438000 20 66 0 0 0.608945 0 0 ZNF319 57567 broad.mit.edu 37 16 58031659 58031659 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr16:58031659C>T ENST00000299237.2 - 2 1133 c.511G>A c.(511-513)Gag>Aag p.E171K NM_020807.1 NP_065858.1 Q9P2F9 ZN319_HUMAN zinc finger protein 319 171 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1) 8 TCCGCTGCCTCAGCTGGCTTG 0.622000 46 88 0 0 0.870114 0 0 ZNF532 55205 broad.mit.edu 37 18 56620896 56620896 + Silent SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr18:56620896G>A ENST00000336078.4 + 8 3791 c.3015G>A c.(3013-3015)aaG>aaA p.K1005K ZNF532_ENST00000589288.1_Silent_p.K1005K|ZNF532_ENST00000591230.1_Silent_p.K1005K|ZNF532_ENST00000591808.1_Silent_p.K1005K|ZNF532_ENST00000591083.1_Silent_p.K1005K NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 1005 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 AATTGGAAAAGAAATCTCCAT 0.428000 24 49 0 0 0.624587 0 0 RBX1 9978 broad.mit.edu 37 22 41360103 41360103 + Silent SNP C C T rs142549819 TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr22:41360103C>T ENST00000216225.8 + 3 250 c.210C>T c.(208-210)gtC>gtT p.V70V XPNPEP3_ENST00000544094.1_3'UTR NM_014248.3 NP_055063.1 P62877 RBX1_HUMAN ring-box 1, E3 ubiquitin protein ligase 70 DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex NEDD8 ligase activity|protein binding|zinc ion binding large_intestine(1)|lung(3)|skin(1) 5 AGTGTACTGTCGCATGGGGAG 0.468000 11 27 0 0 0.387290 0 0 CPSF2 53981 broad.mit.edu 37 14 92628079 92628079 + Silent SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr14:92628079C>T ENST00000298875.4 + 16 2625 c.2340C>T c.(2338-2340)gcC>gcT p.A780A NM_017437.2 NP_059133.1 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2, 100kDa 780 histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex hydrolase activity|protein binding|RNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 24 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) AACAATATGCCATTGTATAAA 0.338000 4 18 0 0 0.150653 0 0 MGEA5 10724 broad.mit.edu 37 10 103569963 103569963 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr10:103569963G>A ENST00000361464.3 - 4 853 c.458C>T c.(457-459)aCa>aTa p.T153I MGEA5_ENST00000419011.2_3'UTR|MGEA5_ENST00000357797.5_Missense_Mutation_p.T153I|MGEA5_ENST00000439817.1_Missense_Mutation_p.T153I|MGEA5_ENST00000370094.3_Missense_Mutation_p.T153I NM_012215.3 NP_036347.1 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 153 glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 23 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) ACGTTTCAATGTGGATACTTC 0.373000 5 63 0 0 0.217242 0 0 XIRP2 129446 broad.mit.edu 37 2 168103818 168103818 + Missense_Mutation SNP C C A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr2:168103818C>A ENST00000409195.1 + 9 6005 c.5916C>A c.(5914-5916)aaC>aaA p.N1972K XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.N1972K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.N1750K NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1797 actin cytoskeleton organization cell junction actin binding p.N1972K(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TCCAGAGGAACAAAAATAGTC 0.458000 13 23 9.05144e-12 9.8501e-12 0.435327 1 0 DMRTC2 63946 broad.mit.edu 37 19 42351824 42351824 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr19:42351824C>T ENST00000269945.3 + 3 296 c.245C>T c.(244-246)gCt>gTt p.A82V DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Missense_Mutation_p.A82V NM_001040283.1 NP_001035373.1 Q8IXT2 DMRTD_HUMAN DMRT-like family C2 82 cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 10 AGGGTCATGGCTGCCCAGGTG 0.592000 5 4 0 0 0.184627 0 0 ITIH5 80760 broad.mit.edu 37 10 7618752 7618752 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr10:7618752G>A ENST00000256861.6 - 10 1720 c.1642C>T c.(1642-1644)Cgg>Tgg p.R548W ITIH5_ENST00000298441.6_Missense_Mutation_p.R334W|ITIH5_ENST00000397145.2_Missense_Mutation_p.R548W|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Missense_Mutation_p.R330W|ITIH5_ENST00000397146.2_Missense_Mutation_p.R548W NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 548 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 TTCTGAGGCCGCACAGGCACA 0.587000 3 29 0 0 0.115264 0 0 HMCN1 83872 broad.mit.edu 37 1 185815164 185815164 + Missense_Mutation SNP G G T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr1:185815164G>T ENST00000271588.4 + 2 504 c.275G>T c.(274-276)gGc>gTc p.G92V HMCN1_ENST00000367492.2_Missense_Mutation_p.G92V NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 92 VWFA. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ACAGAAATTGGCCCAGTGACA 0.368000 7 35 1.12685e-05 1.18279e-05 0.307466 1 0 CTNNA1 1495 broad.mit.edu 37 5 138260216 138260216 + Missense_Mutation SNP G G C TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr5:138260216G>C ENST00000302763.7 + 12 1654 c.1564G>C c.(1564-1566)Gat>Cat p.D522H CTNNA1_ENST00000518825.1_Missense_Mutation_p.D522H|CTNNA1_ENST00000355078.5_Missense_Mutation_p.D419H|CTNNA1_ENST00000540387.1_Missense_Mutation_p.D152H NM_001903.2 NP_001894.2 P35221 CTNA1_HUMAN catenin (cadherin-associated protein), alpha 1, 102kDa 522 adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 52 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CATTTTGGAAGATGTGAACAA 0.473000 5 17 0 0 0.217242 0 0 FAM149A 25854 broad.mit.edu 37 4 187086549 187086549 + Missense_Mutation SNP C C A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr4:187086549C>A ENST00000356371.5 + 11 1968 c.1968C>A c.(1966-1968)agC>agA p.S656R FAM149A_ENST00000514153.1_Missense_Mutation_p.S365R|FAM149A_ENST00000389354.5_Missense_Mutation_p.S365R|FAM149A_ENST00000502970.1_Missense_Mutation_p.S365R|FAM149A_ENST00000227065.4_Missense_Mutation_p.S365R|FAM149A_ENST00000503432.1_Missense_Mutation_p.S365R A5PLN7 F149A_HUMAN family with sequence similarity 149, member A 656 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2) 25 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166) CGTCACGGAGCAGGTTCCCCC 0.542000 10 33 6.40141e-05 6.62524e-05 0.387290 1 0 LEPR 3953 broad.mit.edu 37 1 66070790 66070790 + Missense_Mutation SNP G G C TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr1:66070790G>C ENST00000349533.6 + 11 1658 c.1473G>C c.(1471-1473)caG>caC p.Q491H LEPR_ENST00000371059.3_Missense_Mutation_p.Q491H|LEPR_ENST00000344610.8_Missense_Mutation_p.Q491H|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.Q491H|LEPR_ENST00000371060.3_Missense_Mutation_p.Q491H NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 491 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) GCTATTTGCAGAGTGATGGTT 0.368000 25 61 0 0 0.681144 0 0 ZBTB43 23099 broad.mit.edu 37 9 129596134 129596134 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr9:129596134C>T ENST00000373464.4 + 3 1610 c.1346C>T c.(1345-1347)tCt>tTt p.S449F ZBTB43_ENST00000449886.1_Missense_Mutation_p.S449F|ZBTB43_ENST00000373457.1_Missense_Mutation_p.S449F NM_014007.3 NP_054726.1 O43298 ZBT43_HUMAN zinc finger and BTB domain containing 43 449 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 CATGTGACTTCTTGTACTAAG 0.443000 37 127 0 0 0.834066 0 0 MIR509-2 100126301 broad.mit.edu 37 X 146340318 146340318 + RNA SNP T T A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chrX:146340318T>A ENST00000390724.1 - 0 50 NR_030586.1 CCAATCATTTTTAATTATACA 0.453000 21 38 0 0 0.840704 0 0 IGHV2-26 28455 broad.mit.edu 37 14 106757863 106757863 + RNA SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr14:106757863G>A ENST00000390611.2 - 0 167 TAGCATTGCTGAGTGAGAACC 0.557000 16 29 0 0 0.500413 0 0 ZC3H4 23211 broad.mit.edu 37 19 47575163 47575163 + Missense_Mutation SNP G G T rs149041592 TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr19:47575163G>T ENST00000253048.5 - 13 2055 c.2018C>A c.(2017-2019)cCc>cAc p.P673H ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 673 Pro-rich. nucleic acid binding|zinc ion binding p.P673L(1) NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) AGGGCCGTAGGGCATCATTGG 0.607000 6 16 0.00116845 0.00117639 0.217242 1 0 PC 5091 broad.mit.edu 37 11 66618354 66618354 + Missense_Mutation SNP A A G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr11:66618354A>G ENST00000393960.1 - 18 2545 c.2264T>C c.(2263-2265)cTg>cCg p.L755P PC_ENST00000393958.2_Missense_Mutation_p.L755P|PC_ENST00000393955.2_Missense_Mutation_p.L755P NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 755 Carboxyltransferase. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) GGAGCTGACCAGCATGGTGCA 0.662000 7 13 0 0 0.278610 0 0 DHX57 90957 broad.mit.edu 37 2 39065051 39065051 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr2:39065051C>T ENST00000295373.6 - 13 2590 c.2464G>A c.(2464-2466)Gat>Aat p.D822N NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 822 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) TTTTCAAAATCCATGATGGAC 0.358000 20 34 0 0 0.575678 0 0 NOS3 4846 broad.mit.edu 37 7 150695737 150695737 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr7:150695737G>A ENST00000297494.3 + 7 1142 c.785G>A c.(784-786)cGg>cAg p.R262Q NOS3_ENST00000461406.1_Missense_Mutation_p.R56Q|NOS3_ENST00000467517.1_Missense_Mutation_p.R262Q|NOS3_ENST00000484524.1_Missense_Mutation_p.R262Q NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 262 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) GGCTCTGTGCGGGGGGACCCA 0.652000 3 8 0 0 0.115264 0 0 GPT2 84706 broad.mit.edu 37 16 46934667 46934667 + Missense_Mutation SNP G G T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr16:46934667G>T ENST00000440783.2 + 4 772 c.107G>T c.(106-108)cGg>cTg p.R36L GPT2_ENST00000340124.4_Missense_Mutation_p.R136L NM_001142466.1 NP_001135938.1 Q8TD30 ALAT2_HUMAN glutamic pyruvate transaminase (alanine aminotransferase) 2 136 2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process mitochondrial matrix L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AAACGTGCCCGGCGGATCCTG 0.617000 11 25 2.80697e-09 3.01038e-09 0.387290 1 0 TTC21A 199223 broad.mit.edu 37 3 39178436 39178436 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr3:39178436C>T ENST00000301819.6 + 24 3343 c.3166C>T c.(3166-3168)Cgc>Tgc p.R1056C TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000431162.2_Missense_Mutation_p.R1055C|TTC21A_ENST00000440121.1_Missense_Mutation_p.R1007C NM_145755.2 NP_665698.2 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A 1055 binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) GAACAAGGCACGCAAGGACAG 0.547000 10 58 0 0 0.361761 0 0 CELF3 11189 broad.mit.edu 37 1 151688428 151688428 + Silent SNP C C G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr1:151688428C>G ENST00000290583.4 - 1 862 c.69G>C c.(67-69)ctG>ctC p.L23L AL589765.1_ENST00000442233.2_Intron|RIIAD1_ENST00000326413.3_Intron|CELF3_ENST00000290585.4_Silent_p.L23L NM_001172648.1|NM_007185.4 NP_001166119.1|NP_009116.3 Q5SZQ8 CELF3_HUMAN CUGBP, Elav-like family member 3 23 RRM 1. nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 21 AGATGGGCTTCAGGTCCTTCT 0.597000 4 28 0 0 0.150653 0 0 BAI2 576 broad.mit.edu 37 1 32207757 32207757 + Silent SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr1:32207757C>T ENST00000373658.3 - 8 1655 c.1314G>A c.(1312-1314)ggG>ggA p.G438G BAI2_ENST00000398547.1_Silent_p.G371G|BAI2_ENST00000257070.4_Silent_p.G438G|BAI2_ENST00000398556.3_Silent_p.G386G|BAI2_ENST00000440175.2_Silent_p.G80G|BAI2_ENST00000398538.1_Silent_p.G426G|BAI2_ENST00000527361.1_Silent_p.G438G|BAI2_ENST00000373655.2_Silent_p.G438G|BAI2_ENST00000398542.1_Silent_p.G371G NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 438 TSP type-1 3. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) GCTGTTGGGTCCCATTGGCAC 0.662000 18 30 0 0 0.539581 0 0 OR1D2 4991 broad.mit.edu 37 17 2995717 2995717 + Missense_Mutation SNP T T C TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr17:2995717T>C ENST00000331459.1 - 1 573 c.574A>G c.(574-576)Att>Gtt p.I192V NM_002548.2 NP_002539.2 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, member 2 192 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 TTAATCTGAATGTTGGAACAT 0.448000 14 39 0 0 0.457914 0 0 CADM3 57863 broad.mit.edu 37 1 159162470 159162470 + Nonsense_Mutation SNP C C G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr1:159162470C>G ENST00000368125.4 + 3 489 c.332C>G c.(331-333)tCa>tGa p.S111* CADM3_ENST00000368124.4_Nonsense_Mutation_p.S145* NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 111 Ig-like V-type. 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) TACACCTGCTCAATCTTCACT 0.537000 26 45 0 0 0.667858 0 0 ZNF382 84911 broad.mit.edu 37 19 37118156 37118156 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr19:37118156C>T ENST00000435416.1 + 3 2849 c.1354C>T c.(1354-1356)Ctc>Ttc p.L452F ZNF382_ENST00000292928.2_Missense_Mutation_p.L453F|ZNF382_ENST00000423582.1_Missense_Mutation_p.L404F|ZNF382_ENST00000439428.1_Missense_Mutation_p.L452F Q96SR6 ZN382_HUMAN zinc finger protein 382 453 Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 34 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AACCCTCACTCTCCACCAGAG 0.453000 9 35 0 0 0.335167 0 0 TRIM27 5987 broad.mit.edu 37 6 28871933 28871933 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr6:28871933G>A ENST00000377199.3 - 8 1812 c.1456C>T c.(1456-1458)Cct>Tct p.P486S TRIM27_ENST00000377194.3_3'UTR NM_006510.4 NP_006501.1 P14373 TRI27_HUMAN tripartite motif containing 27 486 B30.2/SPRY. cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 ATGATCAGAGGAGCTGCACTT 0.522000 T RET papillary thyroid 22 69 0 0 0.608945 0 0 ZBTB16 7704 broad.mit.edu 37 11 113934865 113934865 + Silent SNP G G T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr11:113934865G>T ENST00000335953.4 + 2 1223 c.843G>T c.(841-843)ggG>ggT p.G281G ZBTB16_ENST00000392996.2_Silent_p.G281G NM_006006.4 NP_005997.2 Q05516 ZBT16_HUMAN zinc finger and BTB domain containing 16 281 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) AGGGGCCTGGGACCCCGACTC 0.647000 7 21 0.000274275 0.00027995 0.307466 1 0 TLL1 7092 broad.mit.edu 37 4 166929097 166929097 + Missense_Mutation SNP C C G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr4:166929097C>G ENST00000061240.2 + 7 1461 c.814C>G c.(814-816)Caa>Gaa p.Q272E TLL1_ENST00000513213.1_Missense_Mutation_p.Q272E|TLL1_ENST00000507499.1_Missense_Mutation_p.Q272E NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 272 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) GTTCTTAGGTCAAGAGTACAA 0.408000 17 39 0 0 0.539581 0 0 ILVBL 10994 broad.mit.edu 37 19 15230101 15230101 + Missense_Mutation SNP C C G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr19:15230101C>G ENST00000263383.3 - 9 1066 c.927G>C c.(925-927)gaG>gaC p.E309D ILVBL_ENST00000534378.1_Missense_Mutation_p.E202D|ILVBL_ENST00000531635.1_5'UTR NM_006844.3 NP_006835.2 A1L0T0 ILVBL_HUMAN ilvB (bacterial acetolactate synthase)-like 309 integral to membrane magnesium ion binding|thiamine pyrophosphate binding|transferase activity NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1) 26 CACCCAAGGTCTCCACGGCAG 0.672000 10 36 0 0 0.387290 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141370156 141370156 + Silent SNP C C G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr8:141370156C>G ENST00000389328.4 - 9 1796 c.1782G>C c.(1780-1782)tcG>tcC p.S594S TRAPPC9_ENST00000438773.2_Silent_p.S496S|TRAPPC9_ENST00000389327.3_Silent_p.S487S NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 496 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 CACCCTGATCCGACAAGAAGT 0.498000 18 64 0 0 0.557998 0 0 DPYS 1807 broad.mit.edu 37 8 105393527 105393527 + Missense_Mutation SNP G G C TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr8:105393527G>C ENST00000351513.2 - 9 1591 c.1459C>G c.(1459-1461)Cct>Gct p.P487A DPYS_ENST00000521601.1_5'UTR NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 487 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) CGCTCCACAGGGGTAGGTGTG 0.473000 13 53 0 0 0.500413 0 0 SPANXN5 494197 broad.mit.edu 37 X 52825613 52825613 + Missense_Mutation SNP G G C TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chrX:52825613G>C ENST00000375511.3 - 2 886 c.134C>G c.(133-135)aCa>aGa p.T45R NM_001009616.2 NP_001009616.1 Q5MJ07 SPXN5_HUMAN SPANX family, member N5 45 large_intestine(1)|lung(5)|skin(2) 8 Ovarian(276;0.236) ATATTCTGATGTTTTCATCTT 0.393000 3 47 0 0 0.150653 0 0 AZGP1P1 646282 broad.mit.edu 37 7 99580934 99580934 + RNA SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr7:99580934G>A ENST00000425474.1 + 0 255 NR_036679.1 AGGAGTAGAGGACTGGGAGAA 0.532000 7 16 0 0 0.248553 0 0 MRPL55 128308 broad.mit.edu 37 1 228295553 228295553 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr1:228295553G>A ENST00000366731.5 - 5 945 c.152C>T c.(151-153)aCc>aTc p.T51I MRPL55_ENST00000411464.2_Missense_Mutation_p.T15I|MRPL55_ENST00000366739.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366732.1_Missense_Mutation_p.T12I|MRPL55_ENST00000430433.1_Missense_Mutation_p.T51I|MRPL55_ENST00000366741.1_Missense_Mutation_p.T15I|MRPL55_ENST00000295008.4_Missense_Mutation_p.T15I|MRPL55_ENST00000391867.3_Missense_Mutation_p.T15I|MRPL55_ENST00000366736.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366742.1_Missense_Mutation_p.T15I|MRPL55_ENST00000465397.1_5'UTR|MRPL55_ENST00000366746.3_Missense_Mutation_p.T15I|MRPL55_ENST00000366744.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366733.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366747.3_Missense_Mutation_p.T15I|MRPL55_ENST00000366740.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366738.1_Missense_Mutation_p.T51I|MRPL55_ENST00000366735.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366734.1_Missense_Mutation_p.T15I|MRPL55_ENST00000336300.5_Missense_Mutation_p.T15I|MRPL55_ENST00000336520.3_Missense_Mutation_p.T15I|MRPL55_ENST00000348259.5_Missense_Mutation_p.T15I Q7Z7F7 RM55_HUMAN mitochondrial ribosomal protein L55 15 translation mitochondrial large ribosomal subunit structural constituent of ribosome central_nervous_system(1)|lung(4) 5 Prostate(94;0.0405) GGCCTTCACGGTGCTCTGCCT 0.617000 9 26 0 0 0.307466 0 0 HECTD4 283450 broad.mit.edu 37 12 112602002 112602002 + Silent SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr12:112602002G>A ENST00000550722.1 - 73 12569 c.12174C>T c.(12172-12174)agC>agT p.S4058S HECTD4_ENST00000430131.2_Silent_p.S3782S|HECTD4_ENST00000377560.5_Silent_p.S4032S NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GCTTGTTGGGGCTGTCAGGGC 0.652000 16 33 0 0 0.500413 0 0 GCNT2 2651 broad.mit.edu 37 6 10556695 10556695 + Silent SNP C C G rs56147536 TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr6:10556695C>G ENST00000316170.3 + 1 456 c.39C>G c.(37-39)gtC>gtG p.V13V GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron NM_001491.2 NP_001482.1 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 14 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) TAATTTCTGTCTCTAGTGTAA 0.393000 17 48 0 0 0.500413 0 0 EXT1 2131 broad.mit.edu 37 8 119123160 119123160 + Silent SNP A A T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr8:119123160A>T ENST00000378204.2 - 1 932 c.126T>A c.(124-126)ggT>ggA p.G42G NM_000127.2 NP_000118.2 Q16394 EXT1_HUMAN exostosin glycosyltransferase 1 42 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2) 38 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) AGCCATTCCTACCGCTGTGTT 0.562000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Langer-Giedion syndrome;Hereditary Multiple Exostoses 7 30 0 0 0.248553 0 0 CGNL1 84952 broad.mit.edu 37 15 57731561 57731561 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr15:57731561C>T ENST00000281282.5 + 2 1442 c.1364C>T c.(1363-1365)tCa>tTa p.S455L NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 455 Head. myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) CACGGGGCTTCATGTGCCCAC 0.622000 13 23 0 0 0.411799 0 0 OR2T33 391195 broad.mit.edu 37 1 248436971 248436971 + Missense_Mutation SNP C C A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr1:248436971C>A ENST00000318021.2 - 1 167 c.146G>T c.(145-147)tGg>tTg p.W49L NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|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;0.0245) CCGGTGGTCCCAGTGAATCAG 0.522000 18 49 1.30998e-17 1.43613e-17 0.812448 1 0 SNHG14 104472715 broad.mit.edu 37 15 25230200 25230200 + RNA SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr15:25230200C>T ENST00000551631.2 + 0 887 SNHG14_ENST00000551361.1_RNA NR_001293.1 TATTTTTTTACGTATTTTTAC 0.378000 13 20 0 0 0.411799 0 0 RGL4 266747 broad.mit.edu 37 22 24035110 24035110 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr22:24035110G>A ENST00000290691.5 + 3 1798 c.628G>A c.(628-630)Gag>Aag p.E210K GUSBP11_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_Missense_Mutation_p.E74K NM_153615.1 NP_705843.1 Q8IZJ4 RGDSR_HUMAN ral guanine nucleotide dissociation stimulator-like 4 210 Pro-rich. small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3) 15 CCAACCCAGTGAGGAGCTGCC 0.622000 8 31 0 0 0.278610 0 0 MUC2 4583 broad.mit.edu 37 11 1093601 1093601 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr11:1093601G>A ENST00000441003.2 + 30 5447 c.5420G>A c.(5419-5421)gGc>gAc p.G1807D MUC2_ENST00000359061.5_Missense_Mutation_p.1763_1763insD|MUC2_ENST00000333592.6_Missense_Mutation_p.G95D|MUC2_ENST00000361558.6_Intron NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1803 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) ACACCCACCGGCACACAGACC 0.607000 3 23 0 0 0.115264 0 0 ESPNL 339768 broad.mit.edu 37 2 239040266 239040266 + Missense_Mutation SNP C C G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr2:239040266C>G ENST00000343063.3 + 9 3174 c.2911C>G c.(2911-2913)Cgc>Ggc p.R971G ESPNL_ENST00000409506.1_Missense_Mutation_p.R603G|ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Missense_Mutation_p.R927G NM_194312.2 NP_919288.2 Q6ZVH7 ESPNL_HUMAN espin-like 971 endometrium(1)|lung(8)|pancreas(2)|skin(2) 13 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) GCTGGGGTCCCGCTCCCAGCA 0.652000 19 10 0 0 0.575678 0 0 MTUS2 23281 broad.mit.edu 37 13 29855999 29855999 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr13:29855999G>A ENST00000431530.3 + 4 2891 c.2833G>A c.(2833-2835)Gct>Act p.A945T NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 935 Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 TTCCACACCCGCTGGTAAGAC 0.542000 16 43 0 0 0.539581 0 0 GYPA 2993 broad.mit.edu 37 4 145035857 145035857 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr4:145035857C>T ENST00000360771.4 - 6 536 c.421G>A c.(421-423)Gaa>Aaa p.E141K GYPA_ENST00000535709.1_Missense_Mutation_p.E115K|GYPB_ENST00000283126.7_Intron|GYPA_ENST00000324022.10_Missense_Mutation_p.E108K|GYPA_ENST00000503627.1_Missense_Mutation_p.E96K|GYPA_ENST00000512789.1_Missense_Mutation_p.E76K|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512064.1_Missense_Mutation_p.E128K|GYPA_ENST00000504786.1_Missense_Mutation_p.E109K NM_002099.6 NP_002090.4 P02724 GLPA_HUMAN glycophorin A (MNS blood group) 141 interspecies interaction between organisms membrane fraction receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 10 all_hematologic(180;0.15) TTTTCTATTTCAACAGAACTT 0.353000 11 26 0 0 0.387290 0 0 PMPCA 23203 broad.mit.edu 37 9 139311437 139311437 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr9:139311437G>A ENST00000371717.3 + 7 677 c.668G>A c.(667-669)cGt>cAt p.R223H PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.R92H NM_015160.1 NP_055975.1 Q10713 MPPA_HUMAN peptidase (mitochondrial processing) alpha 223 proteolysis mitochondrial inner membrane|mitochondrial matrix metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 14 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) GGCCTCCACCGTTTCTGCCCC 0.562000 7 32 0 0 0.278610 0 0 ARID5B 84159 broad.mit.edu 37 10 63759861 63759861 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr10:63759861G>A ENST00000279873.7 + 4 924 c.514G>A c.(514-516)Gaa>Aaa p.E172K NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 172 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) GGAGGACGAGGAAGAAACGAA 0.473000 8 22 0 0 0.278610 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453669 84453669 + Silent SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr13:84453669C>T ENST00000377084.2 - 1 2859 c.1974G>A c.(1972-1974)gcG>gcA p.A658A NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 658 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TAATCTCGGACGCGGAGGAGT 0.552000 9 20 0 0 0.335167 0 0 BAIAP2 10458 broad.mit.edu 37 17 79073793 79073793 + Silent SNP C C T rs146015006 byFrequency TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr17:79073793C>T ENST00000321300.6 + 7 648 c.555C>T c.(553-555)acC>acT p.T185T BAIAP2_ENST00000575712.1_Silent_p.T185T|BAIAP2_ENST00000416299.2_Silent_p.T48T|BAIAP2_ENST00000392411.3_Silent_p.T107T|BAIAP2_ENST00000321280.7_Silent_p.T185T|BAIAP2_ENST00000575245.1_Silent_p.T218T|BAIAP2_ENST00000428708.2_Silent_p.T185T|BAIAP2_ENST00000435091.3_Silent_p.T185T NM_001144888.1|NM_017451.2 NP_001138360.1|NP_059345.1 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 185 IMD. axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1) 18 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GCTACAAGACCGCACTGACAG 0.617000 3 39 0 0 0.115264 0 0 FAM47C 442444 broad.mit.edu 37 X 37026576 37026576 + Silent SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chrX:37026576G>A ENST00000358047.3 + 1 145 c.93G>A c.(91-93)gcG>gcA p.A31A NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 31 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 AGTACTTCGCGAAGCGCAAGC 0.642000 12 10 0 0 0.411799 0 0 OR51I1 390063 broad.mit.edu 37 11 5462199 5462199 + Silent SNP G G C TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr11:5462199G>C ENST00000380211.1 - 1 545 c.546C>G c.(544-546)ctC>ctG p.L182L HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron NM_001005288.2 NP_001005288.1 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, member 1 182 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GATCTGGATGGAGACAGTAGG 0.433000 14 22 0 0 0.520397 0 0 CHST1 8534 broad.mit.edu 37 11 45671567 45671567 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr11:45671567C>T ENST00000308064.2 - 4 1577 c.907G>A c.(907-909)Gag>Aag p.E303K NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 303 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) GCCAGGTCCTCGTAGCGCACC 0.627000 35 23 0 0 0.769981 0 0 TTN 7273 broad.mit.edu 37 2 179529198 179529198 + Missense_Mutation SNP A A G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr2:179529198A>G ENST00000589042.1 - 168 36493 c.36269T>C c.(36268-36270)gTa>gCa p.V12090A TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10239 Ig-like 80. 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) TTTGACAGGTACAACTTCAGC 0.403000 33 72 0 0 0.840704 0 0 IWS1 55677 broad.mit.edu 37 2 128262665 128262665 + Nonsense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr2:128262665G>A ENST00000295321.4 - 3 1073 c.814C>T c.(814-816)Cga>Tga p.R272* AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Nonsense_Mutation_p.R279* NM_017969.2 NP_060439.2 Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) 272 3 X approximate tandem repeats.|Glu-rich. transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) TCACTGATTCGGGGTTTGGGA 0.522000 75 153 0 0 0.870114 0 0 TTN 7273 broad.mit.edu 37 2 179482531 179482531 + Silent SNP G G T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr2:179482531G>T ENST00000589042.1 - 253 47771 c.47547C>A c.(47545-47547)ccC>ccA p.P15849P TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Silent_p.P6909P|TTN_ENST00000342175.6_Silent_p.P6976P|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.P14208P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.P13281P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.P6784P NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14208 Fibronectin type-III 15. 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) CTTTGACGAAGGGTGTGGCTG 0.408000 4 58 0.000602214 0.000610464 0.184627 1 0 TMEM132C 92293 broad.mit.edu 37 12 128899814 128899814 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr12:128899814C>T ENST00000435159.2 + 2 623 c.623C>T c.(622-624)cCg>cTg p.P208L NM_001136103.2 NP_001129575.2 Q8N3T6 T132C_HUMAN transmembrane protein 132C 208 integral to membrane breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1) 13 TTCAGTGCCCCGACGGTGGGT 0.657000 6 7 0 0 0.217242 0 0 ODF3L2 284451 broad.mit.edu 37 19 463990 463990 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr19:463990C>T ENST00000315489.4 - 4 959 c.724G>A c.(724-726)Gcc>Acc p.A242T ODF3L2_ENST00000382696.3_Missense_Mutation_p.A206T NM_182577.2 NP_872383.1 Q3SX64 OD3L2_HUMAN outer dense fiber of sperm tails 3-like 2 242 Pro-rich. large_intestine(1)|lung(2) 3 GGGCAGTGGGCGCCAGGGCCG 0.711000 4 13 0 0 0.150653 0 0 HUWE1 10075 broad.mit.edu 37 X 53563194 53563194 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chrX:53563194C>T ENST00000342160.3 - 79 12902 c.12445G>A c.(12445-12447)Gaa>Aaa p.E4149K HUWE1_ENST00000262854.6_Missense_Mutation_p.E4149K Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 4149 HECT. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TGGTAATCTTCACTCTCCATA 0.448000 11 22 0 0 0.361761 0 0 LYST 1130 broad.mit.edu 37 1 235973499 235973499 + Missense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr1:235973499G>A ENST00000389794.3 - 5 793 c.619C>T c.(619-621)Cgc>Tgc p.R207C LYST_ENST00000536965.1_Missense_Mutation_p.R207C|LYST_ENST00000389793.2_Missense_Mutation_p.R207C Q99698 LYST_HUMAN lysosomal trafficking regulator 207 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GTTGCTAAGCGGTCAAGTTTA 0.413000 5 135 0 0 0.248553 0 0 OR6K2 81448 broad.mit.edu 37 1 158669812 158669812 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr1:158669812C>T ENST00000359610.2 - 1 674 c.631G>A c.(631-633)Gct>Act p.A211T NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) AGCATCACAGCTGTAATAATC 0.502000 19 42 0 0 0.539581 0 0 KRT14 3861 broad.mit.edu 37 17 39739633 39739633 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr17:39739633C>T ENST00000167586.6 - 6 1214 c.1128G>A c.(1126-1128)atG>atA p.M376I NM_000526.4 NP_000517.2 P02533 K1C14_HUMAN keratin 14 376 Coil 2.|Rod. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25 Breast(137;0.000307) CGCTGCCAATCATCTCCTGGA 0.597000 12 27 0 0 0.435327 0 0 OR1M1 125963 broad.mit.edu 37 19 9204511 9204511 + Silent SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr19:9204511C>T ENST00000429566.3 + 1 657 c.591C>T c.(589-591)atC>atT p.I197I NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 TGAATAGGATCTTCATCCTCA 0.567000 19 57 0 0 0.557998 0 0 TTN 7273 broad.mit.edu 37 2 179549471 179549471 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr2:179549471C>T ENST00000589042.1 - 131 32784 c.32560G>A c.(32560-32562)Gaa>Aaa p.E10854K TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10537K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9610K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10537 Glu-rich.|Pro-rich. 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) TTTGGCTCTTCTGGCACTTAA 0.388000 12 26 0 0 0.411799 0 0 HBP1 26959 broad.mit.edu 37 7 106826299 106826299 + Missense_Mutation SNP G G A rs151293151 by1000genomes TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr7:106826299G>A ENST00000222574.4 + 4 638 c.452G>A c.(451-453)cGc>cAc p.R151H HBP1_ENST00000485846.1_Missense_Mutation_p.R151H|HBP1_ENST00000468410.1_Missense_Mutation_p.R151H NM_012257.3 NP_036389.2 O60381 HBP1_HUMAN HMG-box transcription factor 1 151 cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus DNA binding large_intestine(4)|lung(3)|prostate(1)|skin(2) 10 TCCTATGCACGCCCTCCACCA 0.423000 39 61 0 0 0.834066 0 0 EPHA3 2042 broad.mit.edu 37 3 89498433 89498433 + Missense_Mutation SNP C C G TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr3:89498433C>G ENST00000336596.2 + 14 2630 c.2405C>G c.(2404-2406)aCg>aGg p.T802R EPHA3_ENST00000494014.1_Missense_Mutation_p.T802R NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 802 Protein kinase. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CGCAAGTTCACGTCAGCCAGC 0.438000 TSP Lung(6;0.00050) 25 71 0 0 0.681144 0 0 INHA 3623 broad.mit.edu 37 2 220439822 220439822 + Silent SNP T T C rs139608664 byFrequency TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr2:220439822T>C ENST00000243786.2 + 2 855 c.675T>C c.(673-675)agT>agC p.S225S NM_002191.3 NP_002182.1 P05111 INHA_HUMAN inhibin, alpha 225 cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development inhibin A complex|inhibin-betaglycan-ActRII complex cytokine activity|growth factor activity|hormone activity|signal transducer activity large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 Renal(207;0.0183) Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) GACCACCCAGTGGAGGGGAGA 0.692000 26 13 0 0 0.693898 0 0 AXL 558 broad.mit.edu 37 19 41726662 41726662 + Nonsense_Mutation SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr19:41726662G>A ENST00000301178.4 + 2 397 c.207G>A c.(205-207)tgG>tgA p.W69* AXL_ENST00000359092.3_Nonsense_Mutation_p.W69*|AXL_ENST00000594880.1_3'UTR NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 69 Ig-like C2-type 1.|Interaction with GAS6. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 AGGTACATTGGCTTCGGGATG 0.627000 12 28 0 0 0.387290 0 0 NUBP2 10101 broad.mit.edu 37 16 1836869 1836869 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr16:1836869C>T ENST00000262302.9 + 3 367 c.247C>T c.(247-249)Cgg>Tgg p.R83W NUBP2_ENST00000565134.1_Missense_Mutation_p.R83W|NUBP2_ENST00000543305.1_Intron|NUBP2_ENST00000568706.1_Intron|NUBP2_ENST00000565987.1_Missense_Mutation_p.R23W NM_012225.2 NP_036357.1 Q9Y5Y2 NUBP2_HUMAN nucleotide binding protein 2 83 microtubule organizing center|nucleus 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 CTTCCTGGACCGGGAGCAGAG 0.677000 8 29 0 0 0.307466 0 0 SMAP1 60682 broad.mit.edu 37 6 71508370 71508370 + Frame_Shift_Del DEL A A - TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr6:71508370delA ENST00000370455.3 + 6 754 c.506delA c.(505-507)gafs p.E169fs SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs NM_001044305.1 NP_001037770.1 Q8IYB5 SMAP1_HUMAN small ArfGAP 1 169 regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding p.K145fs*48(1) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1) 15 aaagaaaaggaaaaaaaaaag 0.289 3 5 --- --- --- --- GTF2IRD2P1 401375 broad.mit.edu 37 7 72685632 72685633 + RNA INS - - TAC TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr7:72685632_72685633insTAC ENST00000425256.1 - 0 25_26 NR_002164.1 CAGGGAGGTTTCACCTCACACA 0.490 16 36 --- --- --- --- GTF2IRD2 84163 broad.mit.edu 37 7 74239555 74239556 + In_Frame_Ins INS - - TAC TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr7:74239555_74239556insTAC ENST00000405086.2 - 4 453_454 c.264_265insGTA c.(262-267)gtaacc>gtGTAaacc p.88_89VT>V*T GTF2IRD2_ENST00000453619.2_In_Frame_Ins_p.88_89VT>V*T|GTF2IRD2_ENST00000361071.5_In_Frame_Ins_p.88_89VT>V*T NM_173537.2 NP_775808.2 Q86UP8 GTD2A_HUMAN GTF2I repeat domain containing 2 88 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1) 11 CAGGGAGGTTTCACCTCACACA 0.485 7 33 --- --- --- --- SLC26A7 115111 broad.mit.edu 37 8 92350418 92350418 + Frame_Shift_Del DEL A A - TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr8:92350418delA ENST00000276609.3 + 7 1075 c.836delA c.(835-837)gafs p.E279fs SLC26A7_ENST00000523719.1_Frame_Shift_Del_p.E279fs|SLC26A7_ENST00000309536.2_Frame_Shift_Del_p.E279fs NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 279 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) ACCAATATGGAAAACACATAT 0.303 17 56 --- --- --- --- SNHG1 23642 broad.mit.edu 37 11 62622801 62622804 + RNA DEL AGAA AGAA - TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr11:62622801_62622804delAGAA ENST00000384147.1 - 0 34_37 NR_002564.1 CTAATCCATCAGAAAGAGAGAGTT 0.426 19 41 --- --- --- --- ATP8B4 79895 broad.mit.edu 37 15 50190329 50190329 + Frame_Shift_Del DEL C C - TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr15:50190329delC ENST00000284509.6 - 22 2550 c.2409delG c.(2407-2409)aafs p.K804fs ATP8B4_ENST00000559829.1_Frame_Shift_Del_p.K804fs NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 804 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 p.K803K(1) breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TTCTGTACTTCTTCACCAGCT 0.433 31 50 --- --- --- --- CSPG4P5 114817 broad.mit.edu 37 15 84957480 84957499 + RNA DEL GGCCCCACATCCATTGAGAA GGCCCCACATCCATTGAGAA - TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA ENST00000558801.1 - 0 7230_7249 TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT 0.586 4 2 --- --- --- --- C17orf104 284071 broad.mit.edu 37 17 42746783 42746783 + Frame_Shift_Del DEL A A - TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr17:42746783delA ENST00000409122.2 + 6 2497 c.2355delA c.(2353-2355)ggfs p.G785fs C17orf104_ENST00000409464.1_Frame_Shift_Del_p.G619fs|C17orf104_ENST00000359945.3_Frame_Shift_Del_p.G785fs NM_001145080.2 NP_001138552.2 A2RUB1 CQ104_HUMAN chromosome 17 open reading frame 104 785 autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1) 24 ATTATCCTGGAAAAAAAGTAT 0.353 2 4 --- --- --- --- ZNF43 7594 broad.mit.edu 37 19 21992490 21992491 + Frame_Shift_Ins INS - - T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chr19:21992490_21992491insT ENST00000594012.1 - 7 844_845 c.330_331insA c.(328-333)aaaccafs p.P111fs ZNF43_ENST00000598381.1_Frame_Shift_Ins_p.P111fs|ZNF43_ENST00000595461.1_Frame_Shift_Ins_p.P111fs|ZNF43_ENST00000354959.4_Frame_Shift_Ins_p.P117fs NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 117 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) CTTTTATGGTCTTTTTTTAAAT 0.351 18 55 --- --- --- --- DGKK 139189 broad.mit.edu 37 X 50113399 50113399 + RNA DEL C C - TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chrX:50113399delC ENST00000376025.2 - 0 3795 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) GTCTTCATGACCCCTCTGCCT 0.517 2 4 --- --- --- --- ZXDA 7789 broad.mit.edu 37 X 57935195 57935196 + Frame_Shift_Del DEL AG AG - TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a96e61-f2dc-4af4-807a-3925c1ffbf43 526c06c6-9eb5-4273-a2cb-0162444e9d46 g.chrX:57935195_57935196delAG ENST00000358697.4 - 1 1871_1872 c.1659_1660delCT c.(1657-1662)cttcfs p.LF553fs NM_007156.4 NP_009087.1 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 553 Required for interaction with ZXDC. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1) 37 TTGGATGTGAAGAGTTTATTAC 0.485 10 24 --- --- --- ---