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 FAM83D 81610 broad.mit.edu 37 20 37580459 37580459 + Missense_Mutation SNP G G A TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr20:37580459G>A ENST00000217429.4 + 4 1185 c.1144G>A c.(1144-1146)Gca>Aca p.A382T NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 352 cell division|mitosis cytoplasm|spindle pole endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) AGAGATGCCCGCAGAGGGCAA 0.602000 3 37 0 0 1 0 0 GRIP2 80852 broad.mit.edu 37 3 14536429 14536429 + RNA SNP T T C TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr3:14536429T>C ENST00000273083.3 - 0 2956 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 CATAGACACCTTTTTCCAGGA 0.612000 3 60 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 5 43 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr11:533874T>C ENST00000417302.1 - 3 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). 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.Q61R(136)|p.Q61L(117)|p.Q61P(3) 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) GTACTCCTCCTGGCCGGCGGT 0.597000 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 21 35 0 0 1 0 0 CXXC4 80319 broad.mit.edu 37 4 105412355 105412355 + Missense_Mutation SNP G G C TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr4:105412355G>C ENST00000394767.2 - 2 1055 c.605C>G c.(604-606)tCc>tGc p.S202C CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000426831.1_Missense_Mutation_p.S33C NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 33 negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) GTGTTCAGGGGATAAGGTGGA 0.562000 15 208 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20644024 20644024 + RNA SNP G G A TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr15:20644024G>A ENST00000428453.1 - 0 3435 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 ACCGCCATGAGGCCCCCCACT 0.602000 13 19 0 0 1 0 0 RFWD3 55159 broad.mit.edu 37 16 74695298 74695298 + Missense_Mutation SNP G G A TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr16:74695298G>A ENST00000361070.4 - 2 147 c.50C>T c.(49-51)gCc>gTc p.A17V RFWD3_ENST00000571750.1_Missense_Mutation_p.A17V NM_018124.3 NP_060594.3 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 17 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 26 CTGTTGTTCGGCATGATTTAA 0.478000 4 194 0 0 1 0 0 DUSP15 128853 broad.mit.edu 37 20 30436706 30436706 + Splice_Site SNP C C A TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr20:30436706C>A ENST00000278979.3 - 9 705 c.628_splice c.e9-1 p.G210_splice Q9H1R2 DUS15_HUMAN dual specificity phosphatase 15 210 cytoplasm|plasma membrane protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(1)|lung(4)|pancreas(1)|stomach(1) 7 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CGGTGACCATCCTGCAGGTGG 0.577000 8 9 5.4927e-09 5.89957e-09 1 1 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) 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) tgctgctactgctgctgctgc 0.527000 T MLL ALL 3 33 0 0 1 0 0 NUDT6 11162 broad.mit.edu 37 4 123843575 123843575 + Silent SNP G G A TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr4:123843575G>A ENST00000304430.5 - 1 186 c.153C>T c.(151-153)gaC>gaT p.D51D NUDT6_ENST00000339154.2_Intron NM_007083.4 NP_009014.2 P53370 NUDT6_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 6 51 mitochondrion|nucleus growth factor activity|hydrolase activity endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1) 6 CCCCGAATCTGTCCAGCTCGC 0.711000 3 15 0 0 1 0 0 UGT1A4 54657 broad.mit.edu 37 2 234627834 234627834 + Missense_Mutation SNP C C T TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr2:234627834C>T ENST00000373409.3 + 1 411 c.368C>T c.(367-369)gCc>gTc p.A123V UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron NM_007120.2 NP_009051.1 autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 26 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624) GTATCTTTGGCCCTTCATAGG 0.443000 4 221 0 0 1 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713742 70713742 + RNA SNP G G T rs115439852 by1000genomes TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr14:70713742G>T ENST00000530196.1 - 0 776 NR_003951.1 CCACAACAACGAGCTCCAGAA 0.433000 5 54 1.06961e-07 1.10781e-07 1 1 0 APBB1 322 broad.mit.edu 37 11 6422898 6422898 + Missense_Mutation SNP C C T rs139600801 TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr11:6422898C>T ENST00000389906.2 - 9 1508 c.1409G>A c.(1408-1410)cGt>cAt p.R470H APBB1_ENST00000533407.1_Missense_Mutation_p.R209H|APBB1_ENST00000530885.1_Missense_Mutation_p.R248H|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.R468H|APBB1_ENST00000299402.6_Missense_Mutation_p.R468H NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 470 PID 1. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) CAGCTTATCACGAGCTACGTA 0.597000 3 48 0 0 1 0 0 IQCH 64799 broad.mit.edu 37 15 67677304 67677304 + Missense_Mutation SNP C C T TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr15:67677304C>T ENST00000335894.4 + 11 1469 c.1403C>T c.(1402-1404)gCc>gTc p.A468V IQCH_ENST00000360277.4_Missense_Mutation_p.A220V|IQCH_ENST00000358767.3_Missense_Mutation_p.A295V|IQCH_ENST00000546225.1_Missense_Mutation_p.A216V NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 468 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) GAACATATTGCCGATTTCAAC 0.408000 4 170 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr17:39296167A>G ENST00000345847.4 - 1 572 c.573T>C c.(571-573)atT>atC p.I191I NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 2 2 0 0 1 0 0 CSTL1 128817 broad.mit.edu 37 20 23420947 23420947 + Missense_Mutation SNP G G A TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr20:23420947G>A ENST00000347397.1 + 2 289 c.43G>A c.(43-45)Gcc>Acc p.A15T CSTL1_ENST00000246020.2_Missense_Mutation_p.A15T|CSTL1_ENST00000472140.1_3'UTR NM_138283.1 NP_612140.1 Q9H114 CST1L_HUMAN cystatin-like 1 15 extracellular region cysteine-type endopeptidase inhibitor activity breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1) 14 Colorectal(13;0.0993)|Lung NSC(19;0.235) GCTGCTGATTGCCCTGGTCCT 0.537000 17 30 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61511023 61511023 + Silent SNP G G T TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr20:61511023G>T ENST00000266070.4 - 16 6610 c.6285C>A c.(6283-6285)ccC>ccA p.P2095P DIDO1_ENST00000395343.1_Silent_p.P2095P NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 2095 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GCTTCTCTTTGGGCCCCACGT 0.657000 5 191 0.0293803 0.0293803 1 1 0 OR5K1 26339 broad.mit.edu 37 3 98188581 98188581 + Missense_Mutation SNP G G A TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr3:98188581G>A ENST00000332650.5 + 1 258 c.161G>A c.(160-162)cGg>cAg p.R54Q NM_001004736.2 NP_001004736.2 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, member 1 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ACACACCGTCGGCTTCACACA 0.453000 4 228 0 0 1 0 0 ZNF672 79894 broad.mit.edu 37 1 249141581 249141581 + Silent SNP C C T TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr1:249141581C>T ENST00000306562.3 + 4 854 c.108C>T c.(106-108)caC>caT p.H36H NM_024836.1 NP_079112.1 Q499Z4 ZN672_HUMAN zinc finger protein 672 36 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(1) 5 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) AACGAGCTCACGGCGGTGACG 0.642000 6 4 0 0 1 0 0 CLPTM1L 81037 broad.mit.edu 37 5 1325911 1325911 + Silent SNP T T C TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr5:1325911T>C ENST00000320895.5 - 10 1358 c.1101A>G c.(1099-1101)gcA>gcG p.A367A CLPTM1L_ENST00000507807.1_Silent_p.A198A|CLPTM1L_ENST00000320927.6_Silent_p.A331A|CLPTM1L_ENST00000506641.1_5'UTR NM_030782.3 NP_110409.2 Q96KA5 CLP1L_HUMAN CLPTM1-like 367 apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09) Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181) KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208) TCATCTTCAATGCCTTCTTCA 0.458000 45 71 0 0 1 0 0 PEX5 5830 broad.mit.edu 37 12 7360370 7360370 + Missense_Mutation SNP C C T TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr12:7360370C>T ENST00000266563.5 + 10 1154 c.971C>T c.(970-972)gCt>gTt p.A324V PEX5_ENST00000420616.2_Missense_Mutation_p.A361V|PEX5_ENST00000455147.2_Missense_Mutation_p.A361V|PEX5_ENST00000434354.2_Missense_Mutation_p.A376V|PEX5_ENST00000266564.3_Missense_Mutation_p.A353V|PEX5_ENST00000412720.2_Missense_Mutation_p.A382V NM_001131024.1 NP_001124496.1 P50542 PEX5_HUMAN peroxisomal biogenesis factor 5 361 protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport cytosol|peroxisomal matrix|peroxisomal membrane peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1) 21 TTTGAGGCAGCTGTGCAGCAG 0.547000 10 83 0 0 1 0 0 APC2 10297 broad.mit.edu 37 19 1453055 1453055 + Missense_Mutation SNP A A G TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr19:1453055A>G ENST00000535453.1 + 1 1768 c.55A>G c.(55-57)Aag>Gag p.K19E APC2_ENST00000233607.2_Missense_Mutation_p.K19E|APC2_ENST00000238483.4_Missense_Mutation_p.K19E O95996 APC2_HUMAN adenomatosis polyposis coli 2 19 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2) 18 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGAGGCCTTGAAGGCTGAGAA 0.622000 4 5 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17034125 17034126 + RNA INS - - AGCT rs141324796 by1000genomes TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr1:17034125_17034126insAGCT ENST00000492551.1 - 0 477_478 NR_026567.1 CAGCAGCAGCCAGCTGAGCACC 0.718 5 1 --- --- --- --- ANKRD20A1 84210 broad.mit.edu 37 9 67934791 67934794 + Frame_Shift_Del DEL AAAG AAAG - TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr9:67934791_67934794delAAAG ENST00000377477.2 + 4 673_676 c.561_564delAAAG c.(559-564)aafs p.KK187fs NM_032250.3 NP_115626.2 ankyrin repeat domain 20 family, member A1 kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1) 11 TTTTATTGAAAAAGAAAGCAAGTT 0.309 3 4 --- --- --- --- TNRC6B 23112 broad.mit.edu 37 22 40658165 40658165 + Frame_Shift_Del DEL G G - TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr22:40658165delG ENST00000454349.2 + 4 656 c.445delG c.(445-447)ggfs p.G149fs TNRC6B_ENST00000335727.8_Frame_Shift_Del_p.G149fs|TNRC6B_ENST00000301923.9_Frame_Shift_Del_p.G185fs|TNRC6B_ENST00000402203.1_Frame_Shift_Del_p.G185fs NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 149 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 GAGTGAGAGTGGGACTGCGCC 0.567 2 4 --- --- --- ---