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 NDST3 9348 broad.mit.edu 37 4 118975475 118975475 + Nonsense_Mutation SNP T T A TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr4:118975475T>A ENST00000296499.5 + 2 813 c.410T>A c.(409-411)tTa>tAa p.L137* NDST3_ENST00000433996.2_Nonsense_Mutation_p.L137* NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 137 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 GAGAATATTTTAAAGTATATA 0.353000 3 39 0 0 1 0 0 CIITA 4261 broad.mit.edu 37 16 11017093 11017093 + Missense_Mutation SNP C C T TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr16:11017093C>T ENST00000324288.8 + 19 3459 c.3326C>T c.(3325-3327)aCg>aTg p.T1109M CIITA_ENST00000381835.5_Missense_Mutation_p.T525M NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 1109 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 AGGATGTGGACGCCCACCATC 0.607000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 8 114 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348668 197348668 + RNA SNP C C G rs79940815 by1000genomes TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr3:197348668C>G ENST00000418868.1 - 0 591 NR_003266.2 ACTTGAGGCTCTGTCCACCAA 0.488000 4 81 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 74967622 74967622 + Missense_Mutation SNP C C T TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr14:74967622C>T ENST00000261978.4 - 36 5817 c.5431G>A c.(5431-5433)Gag>Aag p.E1811K LTBP2_ENST00000556690.1_Missense_Mutation_p.E1767K NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 1811 EGF-like 20; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GGCCCTGCCTCAGCCACATAT 0.612000 6 46 0 0 1 0 0 KIF16B 55614 broad.mit.edu 37 20 16354924 16354924 + Silent SNP G G A TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr20:16354924G>A ENST00000354981.2 - 20 3485 c.3328C>T c.(3328-3330)Ctg>Ttg p.L1110L KIF16B_ENST00000378003.2_Silent_p.L336L|KIF16B_ENST00000355755.3_Silent_p.L1110L|KIF16B_ENST00000408042.1_Silent_p.L1110L NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 1110 cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 AGGGGAACCAGGTGTGATTTT 0.458000 5 79 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 5 28 0 0 1 0 0 WDR64 128025 broad.mit.edu 37 1 241904837 241904837 + Missense_Mutation SNP G G A TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr1:241904837G>A ENST00000366552.2 + 11 1518 c.1311G>A c.(1309-1311)atG>atA p.M437I WDR64_ENST00000437684.2_Missense_Mutation_p.M437I NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 437 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) TTATGGACATGTATCCTTTGA 0.353000 6 44 0 0 1 0 0 HERC2P2 0 broad.mit.edu 37 15 23300079 23300079 + RNA SNP T T G rs417713 by1000genomes TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr15:23300079T>G ENST00000560464.1 - 0 4208 GTGCTGCACGTTGACAGGCGT 0.607000 5 19 0 0 1 0 0 OR6Q1 219952 broad.mit.edu 37 11 57798830 57798830 + Missense_Mutation SNP T T G TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr11:57798830T>G ENST00000302622.3 + 1 429 c.406T>G c.(406-408)Tat>Gat p.Y136D OR9Q1_ENST00000335397.3_Intron NM_001005186.2 NP_001005186.2 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, member 1 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(21;0.0707)|all_epithelial(135;0.142) GCCTCTCCACTATGGGGCTTT 0.527000 6 61 0 0 1 0 0 CPT1C 126129 broad.mit.edu 37 19 50212006 50212006 + Missense_Mutation SNP G G C TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr19:50212006G>C ENST00000392518.4 + 14 1848 c.1476G>C c.(1474-1476)caG>caC p.Q492H CPT1C_ENST00000354199.5_Missense_Mutation_p.Q492H|CPT1C_ENST00000598293.1_Missense_Mutation_p.Q492H|CPT1C_ENST00000405931.2_Missense_Mutation_p.Q481H|CPT1C_ENST00000323446.5_Missense_Mutation_p.Q492H NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 492 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) AATGCTTTCAGCTGGGCTACT 0.602000 4 89 0 0 1 0 0 NUP43 348995 broad.mit.edu 37 6 150067084 150067084 + Missense_Mutation SNP C C A TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr6:150067084C>A ENST00000340413.2 - 2 311 c.235G>T c.(235-237)Gat>Tat p.D79Y NUP43_ENST00000367403.3_Missense_Mutation_p.D140Y|NUP43_ENST00000460354.2_Missense_Mutation_p.D79Y|NUP43_ENST00000463048.3_5'UTR|NUP43_ENST00000367404.4_Missense_Mutation_p.D79Y NM_198887.1 NP_942590.1 Q8NFH3 NUP43_HUMAN nucleoporin 43kDa 79 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101) ACCTGTAAATCCATTACATCA 0.393000 7 87 8.12818e-05 8.61588e-05 1 1 0 TAF1L 138474 broad.mit.edu 37 9 32631138 32631138 + Silent SNP C C T TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr9:32631138C>T ENST00000242310.4 - 1 4529 c.4440G>A c.(4438-4440)ggG>ggA p.G1480G NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1480 Bromo 1. male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AATGTTTTGGCCCATTGTAGG 0.418000 4 174 0 0 1 0 0 HERC2P2 0 broad.mit.edu 37 15 23300033 23300033 + RNA SNP T T C rs1058831 by1000genomes TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr15:23300033T>C ENST00000560464.1 - 0 4254 CGGGAACGGGTGACTGCTTGC 0.592000 4 20 0 0 1 0 0 ATP2A1 487 broad.mit.edu 37 16 28900176 28900176 + Missense_Mutation SNP G G T TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr16:28900176G>T ENST00000395503.4 + 9 1181 c.997G>T c.(997-999)Gta>Tta p.V333L ATP2A1_ENST00000536376.1_Missense_Mutation_p.V208L|ATP2A1_ENST00000357084.3_Missense_Mutation_p.V333L NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 333 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 GAATGCCATTGTAAGAAGCTT 0.587000 14 104 1.5842e-08 1.78644e-08 1 1 0 NCOR1P1 0 broad.mit.edu 37 20 26084296 26084296 + RNA SNP A A G rs61752037 by1000genomes TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr20:26084296A>G ENST00000478176.1 - 0 161 NR_003678.1 p.F40F(1) GTTTGCCTCCAAATGCTGGAT 0.378000 3 56 0 0 1 0 0 HIC1 3090 broad.mit.edu 37 17 1960006 1960006 + Missense_Mutation SNP C C T TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr17:1960006C>T ENST00000399849.2 + 2 182 c.22C>T c.(22-24)Ccc>Tcc p.P8S HIC1_ENST00000322941.3_Missense_Mutation_p.P27S NM_006497.3 NP_006488.2 Q14526 HIC1_HUMAN hypermethylated in cancer 1 27 multicellular organismal development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|lung(1)|prostate(1) 3 READ - Rectum adenocarcinoma(1115;0.236) GATGGAGGCGCCCGGCCACTC 0.687000 4 19 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625947 29625947 + Missense_Mutation SNP T T C TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr20:29625947T>C ENST00000278882.3 + 5 571 c.191T>C c.(190-192)aTt>aCt p.I64T FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T p.I64T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCAGATGCAATTGGACCAAGA 0.343000 4 94 0 0 1 0 0 OR2A2 442361 broad.mit.edu 37 7 143806760 143806760 + Missense_Mutation SNP C C T TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr7:143806760C>T ENST00000408979.2 + 1 154 c.85C>T c.(85-87)Ctc>Ttc p.L29F NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) CCTCTGTGGACTCTTCTCTGT 0.517000 4 72 0 0 1 0 0 KRT27 342574 broad.mit.edu 37 17 38935974 38935974 + Missense_Mutation SNP G G A TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr17:38935974G>A ENST00000301656.3 - 4 864 c.824C>T c.(823-825)gCg>gTg p.A275V NM_181537.3 NP_853515.2 Q7Z3Y8 K1C27_HUMAN keratin 27 275 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1) 21 Breast(137;0.000812) CCAGGCCTCCGCGTCCCTGCG 0.652000 4 29 0 0 1 0 0 UTS2 10911 broad.mit.edu 37 1 7910967 7910967 + Missense_Mutation SNP G G A TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr1:7910967G>A ENST00000377516.2 - 3 439 c.119C>T c.(118-120)gCg>gTg p.A40V UTS2_ENST00000054668.5_Missense_Mutation_p.A55V|UTS2_ENST00000361696.5_Missense_Mutation_p.A40V O95399 UTS2_HUMAN urotensin 2 40 muscle contraction|regulation of blood pressure|synaptic transmission extracellular space hormone activity kidney(1)|lung(4)|urinary_tract(1) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642) AGTTAAGCGCGCGTCTTCATG 0.463000 4 62 0 0 1 0 0 PHYHIPL 84457 broad.mit.edu 37 10 60996414 60996414 + Missense_Mutation SNP G G A TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr10:60996414G>A ENST00000373880.4 + 3 739 c.475G>A c.(475-477)Gca>Aca p.A159T PHYHIPL_ENST00000472199.1_3'UTR|PHYHIPL_ENST00000373878.3_Missense_Mutation_p.A133T NM_032439.3 NP_115815.2 Q96FC7 PHIPL_HUMAN phytanoyl-CoA 2-hydroxylase interacting protein-like 159 NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1) 18 ATTCTGCACCGCAGGTAAGAG 0.328000 4 32 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137814077 137814077 + Missense_Mutation SNP G G T TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr2:137814077G>T ENST00000409968.1 + 3 405 c.227G>T c.(226-228)aGt>aTt p.S76I THSD7B_ENST00000413152.2_Missense_Mutation_p.S45I|THSD7B_ENST00000272643.3_Missense_Mutation_p.S76I thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GGGTGGACAAGTCACCTGTCT 0.532000 11 25 0.000673444 0.000699854 1 1 0 OR10G8 219869 broad.mit.edu 37 11 123900679 123900679 + Missense_Mutation SNP T T A TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr11:123900679T>A ENST00000431524.1 + 1 383 c.350T>A c.(349-351)aTg>aAg p.M117K NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TACAGGGTCATGTCCTGTGAT 0.557000 11 107 0 0 1 0 0 PRSS58 136541 broad.mit.edu 37 7 141955354 141955354 + Splice_Site SNP C C T TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr7:141955354C>T ENST00000552471.1 - 2 499 c.e2+1 PRSS58_ENST00000547058.2_Splice_Site Q8IYP2 PRS58_HUMAN protease, serine, 58 proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 TTATCACTCACGGTAAATTGC 0.502000 9 42 0 0 1 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4967265 4967265 + Missense_Mutation SNP G G A TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chrY:4967265G>A ENST00000333703.4 + 5 2126 c.1613G>A c.(1612-1614)cGt>cAt p.R538H PCDH11Y_ENST00000215473.6_Missense_Mutation_p.R549H|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.R549H NM_001278619.1|NM_032971.2 NP_001265548.1|NP_116753.1 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 549 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 AGCCTGGATCGTCGTACAGGC 0.438000 14 11 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44673702 44673702 + Missense_Mutation SNP G G T TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr20:44673702G>T ENST00000454036.1 + 12 1637 c.1561G>T c.(1561-1563)Gct>Tct p.A521S SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.A498S NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 521 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CACCTGTGGGGCTGGGCTGCA 0.617000 5 99 0.217242 0.217242 1 1 0 SDE2 163859 broad.mit.edu 37 1 226182980 226182980 + Missense_Mutation SNP G G A TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr1:226182980G>A ENST00000366817.1 - 2 234 c.71C>T c.(70-72)gCg>gTg p.A24V SDE2_ENST00000272091.7_Silent_p.C75C SDE2 telomere maintenance homolog (S. pombe) CTTTTCCACCGCAAAGTCTGG 0.403000 4 87 0 0 1 0 0 MASP1 5648 broad.mit.edu 37 3 186978566 186978566 + Silent SNP G G A TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr3:186978566G>A ENST00000337774.5 - 4 899 c.510C>T c.(508-510)ttC>ttT p.F170F MASP1_ENST00000392472.2_Silent_p.F57F|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Silent_p.F144F|MASP1_ENST00000296280.6_Silent_p.F170F|MASP1_ENST00000169293.6_Silent_p.F170F NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 170 EGF-like; calcium-binding.|Homodimerization (By similarity).|Interaction with FCN2.|Interaction with MBL2. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) GGATGTAGCCGAAGCGGCAGG 0.527000 3 48 0 0 1 0 0 SNX2 6643 broad.mit.edu 37 5 122161782 122161782 + Nonsense_Mutation SNP G G A TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr5:122161782G>A ENST00000379516.2 + 12 1358 c.1250G>A c.(1249-1251)tGg>tAg p.W417* SNX2_ENST00000510372.1_3'UTR|SNX2_ENST00000514949.1_Nonsense_Mutation_p.W300* NM_003100.2 NP_003091.2 O60749 SNX2_HUMAN sorting nexin 2 417 cell communication|endocytosis|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding|protein transporter activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1) 19 all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109) TGGCAGAAATGGGAAGATGCT 0.328000 5 50 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 5 83 0 0 1 0 0 DDX27 55661 broad.mit.edu 37 20 47850217 47850217 + Missense_Mutation SNP G G A rs148964696 TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr20:47850217G>A ENST00000371764.4 + 11 1346 c.1337G>A c.(1336-1338)cGt>cAt p.R446H DDX27_ENST00000484427.1_3'UTR NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 446 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CGGCCTAATCGTGAAGGAGAC 0.572000 4 62 0 0 1 0 0 NAPRT1 93100 broad.mit.edu 37 8 144658675 144658675 + Missense_Mutation SNP C C T TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr8:144658675C>T ENST00000449291.2 - 7 1243 c.949G>A c.(949-951)Gtg>Atg p.V317M RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000426292.3_Missense_Mutation_p.V317M|NAPRT1_ENST00000276844.7_Missense_Mutation_p.V317M|NAPRT1_ENST00000435154.3_Missense_Mutation_p.V317M Q6XQN6 PNCB_HUMAN nicotinate phosphoribosyltransferase domain containing 1 317 nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process cytosol|Golgi apparatus|nucleus nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146) TCCAGCCTCACGCCCACTGCC 0.627000 5 10 0 0 1 0 0 DEFB129 140881 broad.mit.edu 37 20 210386 210386 + Nonsense_Mutation SNP G G T TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr20:210386G>T ENST00000246105.4 + 2 557 c.526G>T c.(526-528)Gag>Tag p.E176* NM_080831.3 NP_543021.1 Q9H1M3 DB129_HUMAN defensin, beta 129 176 defense response to bacterium extracellular region endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1) 9 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.122) ACCATCACTGGAGCTAGAGGA 0.443000 5 29 2.0095e-06 2.17354e-06 1 1 0 RAB11FIP4 84440 broad.mit.edu 37 17 29850576 29850576 + Missense_Mutation SNP G G A TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr17:29850576G>A ENST00000325874.8 + 8 1205 c.976G>A c.(976-978)Gaa>Aaa p.E326K RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.E224K NM_032932.3 NP_116321.2 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) 326 Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization. cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) TGGCAGCACCGAAGACCTGTT 0.607000 4 57 0 0 1 0 0 PYGL 5836 broad.mit.edu 37 14 51375588 51375588 + Missense_Mutation SNP G G T TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr14:51375588G>T ENST00000216392.7 - 18 2595 c.2263C>A c.(2263-2265)Cag>Aag p.Q755K PYGL_ENST00000544180.2_Missense_Mutation_p.Q721K|PYGL_ENST00000532462.1_Missense_Mutation_p.Q755K NM_002863.4 NP_002854.3 P06737 PYGL_HUMAN phosphorylase, glycogen, liver 755 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3) 25 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) AGGTCAGGCTGCTTGGGAGAA 0.438000 4 103 0.150653 0.153551 1 1 0 NCR3 259197 broad.mit.edu 37 6 31557641 31557641 + Silent SNP G G A TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr6:31557641G>A ENST00000376073.4 - 2 569 c.306C>T c.(304-306)gaC>gaT p.D102D NCR3_ENST00000491161.1_5'UTR|NCR3_ENST00000340027.5_Silent_p.D102D|NCR3_ENST00000376071.4_Silent_p.D77D|NCR3_ENST00000376072.3_Silent_p.D102D NM_001145466.1 NP_001138938.1 O14931 NCTR3_HUMAN natural cytotoxicity triggering receptor 3 102 Ig-like. cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity integral to plasma membrane receptor activity p.D102E(1) cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2) 9 AGATGCTGGCGTCATGGCCTC 0.632000 4 57 0 0 1 0 0 HOXB4 3214 broad.mit.edu 37 17 46655387 46655387 + Missense_Mutation SNP C C T TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr17:46655387C>T ENST00000332503.5 - 1 2086 c.295G>A c.(295-297)Gcc>Acc p.A99T HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000472863.1_Intron NM_024015.4 NP_076920.1 P17483 HXB4_HUMAN homeobox B4 99 Pro-rich (part of the transcriptional activation domain). nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2) 9 AGGGCCCCGGCGGGTGGCGGC 0.836000 2 1 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76022259 76022259 + Missense_Mutation SNP C C T TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr6:76022259C>T ENST00000393004.2 - 5 3510 c.3289G>A c.(3289-3291)Gtg>Atg p.V1097M FILIP1_ENST00000370020.1_Missense_Mutation_p.V998M|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.V1097M Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 1097 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TCGGCTGTCACGTTTACTGGT 0.512000 5 99 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6718310 6718310 + Silent SNP G G A TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr19:6718310G>A ENST00000245907.6 - 3 473 c.381C>T c.(379-381)agC>agT p.S127S NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 127 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) AGAGGTACCCGCTCTGCAGGC 0.647000 4 22 0 0 1 0 0 EDC4 23644 broad.mit.edu 37 16 67914636 67914636 + Silent SNP C C T TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr16:67914636C>T ENST00000358933.5 + 18 2513 c.2274C>T c.(2272-2274)tcC>tcT p.S758S NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 758 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) GTTTTGGCTCCTCTGCACCAG 0.662000 10 134 0 0 1 0 0 POLG 5428 broad.mit.edu 37 15 89860013 89860013 + Missense_Mutation SNP G G A TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr15:89860013G>A ENST00000268124.5 - 23 4022 c.3689C>T c.(3688-3690)tCc>tTc p.S1230F FANCI_ENST00000300027.8_3'UTR|POLG_ENST00000442287.2_Missense_Mutation_p.S1230F|FANCI_ENST00000310775.7_3'UTR NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 1230 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) TTTTTCCAAGGAGCCTTTGGT 0.507000 DNA polymerases (catalytic subunits) 6 55 0 0 1 0 0 PRR3 80742 broad.mit.edu 37 6 30525976 30525976 + Silent SNP C C T TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr6:30525976C>T ENST00000376560.3 + 2 615 c.156C>T c.(154-156)ggC>ggT p.G52G PRR3_ENST00000498336.1_3'UTR|PRR3_ENST00000376557.3_Intron NM_025263.3 NP_079539.2 P79522 PRR3_HUMAN proline rich 3 52 Pro-rich. nucleic acid binding|zinc ion binding lung(1)|ovary(1) 2 GAAAACCTGGCGACCCTAAGT 0.502000 6 32 0 0 1 0 0 MTR 4548 broad.mit.edu 37 1 236966820 236966820 + Missense_Mutation SNP C C T TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr1:236966820C>T ENST00000366577.5 + 2 521 c.127C>T c.(127-129)Cgg>Tgg p.R43W MTR_ENST00000535889.1_Missense_Mutation_p.R43W|MTR_ENST00000418145.2_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 43 Hcy-binding. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) CATGATCCAGCGGGAGAAGCT 0.468000 3 55 0 0 1 0 0 ZNF671 79891 broad.mit.edu 37 19 58232392 58232392 + Silent SNP G G A TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr19:58232392G>A ENST00000317398.6 - 4 1157 c.1062C>T c.(1060-1062)tcC>tcT p.S354S AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Silent_p.S256S NM_024833.2 NP_079109.2 Q8TAW3 ZN671_HUMAN zinc finger protein 671 354 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CAATCAGGCCGGAGATTTGTC 0.453000 4 61 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 4 50 0 0 1 0 0 CTC-467M3.1 0 broad.mit.edu 37 5 87980831 87980831 + RNA DEL G G - TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr5:87980831delG ENST00000510274.1 + 0 46 aggaggaggaggGATGGGAGG 0.587 2 4 --- --- --- --- TMEM151A 256472 broad.mit.edu 37 11 66063023 66063023 + Frame_Shift_Del DEL C C - TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7d643e8-1bc8-4a0d-af31-ca9f06243547 c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63 g.chr11:66063023delC ENST00000327259.4 + 2 1450 c.1306delC c.(1306-1308)ccfs p.P436fs NM_153266.3 NP_694998.1 Q8N4L1 T151A_HUMAN transmembrane protein 151A 436 integral to membrane central_nervous_system(1)|kidney(4)|lung(6) 11 GGACACGGAACCCCTGGAGAG 0.731 2 4 --- --- --- ---