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 SYVN1 84447 broad.mit.edu 37 11 64900484 64900484 + Missense_Mutation SNP C C T TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr11:64900484C>T ENST00000526060.1 - 4 479 c.287G>A c.(286-288)cGg>cAg p.R96Q SYVN1_ENST00000307289.6_Missense_Mutation_p.R96Q|SYVN1_ENST00000294256.8_Missense_Mutation_p.R96Q|SYVN1_ENST00000377190.3_Missense_Mutation_p.R96Q Q86TM6 SYVN1_HUMAN synovial apoptosis inhibitor 1, synoviolin 96 ER-associated protein catabolic process|response to stress endoplasmic reticulum membrane|integral to membrane|nucleus acid-amino acid ligase activity|protein binding|zinc ion binding p.R96L(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 GAAGTCATCCCGAAAAACGGT 0.522000 26 65 0 0 1 0 0 GBF1 8729 broad.mit.edu 37 10 104135132 104135132 + Missense_Mutation SNP G G A rs141665490 TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr10:104135132G>A ENST00000369983.3 + 30 3934 c.3674G>A c.(3673-3675)cGc>cAc p.R1225H NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 1225 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) CTCTCCCTGCGCATTTTGCTA 0.577000 4 145 0 0 1 0 0 NUP214 8021 broad.mit.edu 37 9 134019889 134019889 + Missense_Mutation SNP C C T TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr9:134019889C>T ENST00000359428.5 + 12 1661 c.1517C>T c.(1516-1518)tCc>tTc p.S506F RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.S506F|RP11-544A12.4_ENST00000588378.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.S506F|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA P35658 NU214_HUMAN nucleoporin 214kDa 506 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TCCAGTGGCTCCGACAGCTCC 0.582000 T """DEK, SET, ABL1""" """AML, T-ALL""" 63 226 0 0 1 0 0 ZNF254 9534 broad.mit.edu 37 19 24310294 24310294 + Missense_Mutation SNP T T G TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr19:24310294T>G ENST00000357002.4 + 4 1607 c.1492T>G c.(1492-1494)Tct>Gct p.S498A ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 498 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) ATGTGGCAAATCTTTTAGCCA 0.408000 4 165 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175067639 175067639 + Missense_Mutation SNP C C T TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr1:175067639C>T ENST00000239462.4 + 9 2140 c.2027C>T c.(2026-2028)aCa>aTa p.T676I NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 676 Fibronectin type-III 5. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) ACAGTCCTGACAGGCCTGAGA 0.622000 14 157 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578272 7578272 + Missense_Mutation SNP G G T TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr17:7578272G>T ENST00000420246.2 - 6 709 c.577C>A c.(577-579)Cat>Aat p.H193N TP53_ENST00000269305.4_Missense_Mutation_p.H193N|TP53_ENST00000359597.4_Missense_Mutation_p.H193N|TP53_ENST00000413465.2_Missense_Mutation_p.H193N|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.H193N|TP53_ENST00000455263.2_Missense_Mutation_p.H193N NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 193 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGGATAAGATGCTGAGGAGGG 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 23 57 3.6726e-16 4.25484e-16 1 1 0 MIR1261 100302228 broad.mit.edu 37 11 90602322 90602322 + RNA SNP G G T TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr11:90602322G>T ENST00000408659.1 - 0 48 NR_031663.1 catctggatagaacagatcaa 0.408000 16 90 6.49762e-13 7.3485e-13 1 1 0 HSD17B7 51478 broad.mit.edu 37 1 162769603 162769603 + Missense_Mutation SNP G G A TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr1:162769603G>A ENST00000367917.3 + 5 586 c.518G>A c.(517-519)aGt>aAt p.S173N HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR P56937 DHB7_HUMAN hydroxysteroid (17-beta) dehydrogenase 7 173 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity p.S173N(4) endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_hematologic(112;0.115) NADH(DB00157) TCATCTCGCAGTGCAAGGAAA 0.458000 4 96 0 0 1 0 0 SPIDR 23514 broad.mit.edu 37 8 48641528 48641528 + Silent SNP G G A TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr8:48641528G>A ENST00000297423.4 + 18 2853 c.2469G>A c.(2467-2469)gtG>gtA p.V823V SPIDR_ENST00000518074.1_Silent_p.V763V|SPIDR_ENST00000541342.1_Silent_p.V753V|SPIDR_ENST00000517693.1_Silent_p.V298V|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518060.1_Silent_p.V25V NM_001080394.2 NP_001073863.1 scaffolding protein involved in DNA repair GCTCCCGGGTGGTCACATCTC 0.587000 36 132 0 0 1 0 0 SYNJ2 8871 broad.mit.edu 37 6 158505188 158505188 + Missense_Mutation SNP C C A TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr6:158505188C>A ENST00000355585.4 + 22 3265 c.3190C>A c.(3190-3192)Cag>Aag p.Q1064K SYNJ2_ENST00000367121.3_Missense_Mutation_p.Q1064K|SYNJ2_ENST00000367112.1_Missense_Mutation_p.Q149K|SYNJ2_ENST00000367122.2_Missense_Mutation_p.Q1064K NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 1064 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CAAAAAGAAGCAGCATCCAAC 0.557000 40 373 6.5261e-18 7.74975e-18 1 1 0 HIST1H3C 8352 broad.mit.edu 37 6 26045786 26045786 + Missense_Mutation SNP C C T TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr6:26045786C>T ENST00000540144.1 + 1 148 c.148C>T c.(148-150)Cgc>Tgc p.R50C NM_003531.2 NP_003522.1 P68431 H31_HUMAN histone cluster 1, H3c 50 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1) 8 CGTGGCCTTGCGCGAAATCCG 0.627000 4 205 0 0 1 0 0 ATP2A2 488 broad.mit.edu 37 12 110765478 110765478 + Missense_Mutation SNP C C A TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr12:110765478C>A ENST00000395494.2 + 7 1233 c.670C>A c.(670-672)Caa>Aaa p.Q224K ATP2A2_ENST00000308664.6_Missense_Mutation_p.Q251K|ATP2A2_ENST00000539276.2_Missense_Mutation_p.Q251K P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 251 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 ACCCCTTCAGCAAAAACTAGA 0.453000 22 340 3.10358e-05 3.31281e-05 1 1 0 CCDC15 80071 broad.mit.edu 37 11 124857495 124857495 + Missense_Mutation SNP A A C rs113451248 TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr11:124857495A>C ENST00000529051.1 + 8 1632 c.1373A>C c.(1372-1374)cAc>cCc p.H458P CCDC15_ENST00000344762.5_Missense_Mutation_p.H458P Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 458 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) CATGTTCTCCACAAAGACCAA 0.418000 4 261 0 0 1 0 0 CRISP3 10321 broad.mit.edu 37 6 49696554 49696554 + Silent SNP G G A TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr6:49696554G>A ENST00000433368.2 - 8 765 c.696C>T c.(694-696)taC>taT p.Y232Y CRISP3_ENST00000263045.4_Silent_p.Y222Y|CRISP3_ENST00000423399.2_Silent_p.Y119Y|CRISP3_ENST00000393666.1_Silent_p.Y209Y|CRISP3_ENST00000371159.4_Silent_p.Y240Y NM_001190986.1 NP_001177915.1 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 209 innate immune response proteinaceous extracellular matrix|specific granule breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) AGAGATCTTCGTACTTGCAAC 0.358000 23 132 0 0 1 0 0 HPDL 84842 broad.mit.edu 37 1 45793481 45793481 + Missense_Mutation SNP C C T TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr1:45793481C>T ENST00000334815.3 + 1 937 c.661C>T c.(661-663)Ccg>Tcg p.P221S NM_032756.2 NP_116145.1 Q96IR7 HPDL_HUMAN 4-hydroxyphenylpyruvate dioxygenase-like 221 aromatic amino acid family metabolic process 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 Acute lymphoblastic leukemia(166;0.155) GCAGGCCCAGCCGGGCAGCAT 0.662000 4 168 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212431 26212431 + Silent SNP G G T TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chrX:26212431G>T ENST00000379034.1 + 2 617 c.468G>T c.(466-468)tcG>tcT p.S156S NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 156 Ser-rich. p.S156S(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 CCACTGGCTCGCCTGATGCAG 0.507000 4 158 0.150653 0.153893 1 1 0 GCN1L1 10985 broad.mit.edu 37 12 120572490 120572490 + Missense_Mutation SNP G G A TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr12:120572490G>A ENST00000300648.6 - 52 7061 c.7049C>T c.(7048-7050)aCc>aTc p.T2350I NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 2350 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGTGAAAGTGGTCTGCAGCTG 0.582000 26 114 0 0 1 0 0 GOLGA2P9 440518 broad.mit.edu 37 19 22785235 22785235 + RNA SNP C C A TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr19:22785235C>A ENST00000600260.1 + 0 1411 NR_033899.1 CCAGAGGCAGCAGCCCCAGCC 0.677000 6 24 8.12818e-05 8.57975e-05 1 1 0 SMARCA4 6597 broad.mit.edu 37 19 11144113 11144113 + Missense_Mutation SNP G G A TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr19:11144113G>A ENST00000358026.2 + 26 3978 c.3694G>A c.(3694-3696)Ggc>Agc p.G1232S SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1232S|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G1232S|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1232S|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1232S|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1232S|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1232S|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1232S|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1232S NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1232 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.G1232S(5)|p.G1232C(1)|p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) GATCCAGGCCGGCATGTTCGA 0.637000 """F, N, Mis""" NSCLC 55 347 0 0 1 0 0 TBRG4 9238 broad.mit.edu 37 7 45142000 45142000 + Silent SNP G G T rs143508956 TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr7:45142000G>T ENST00000258770.3 - 7 1388 c.1267C>A c.(1267-1269)Cgg>Agg p.R423R TBRG4_ENST00000395655.4_Silent_p.R313R|TBRG4_ENST00000494076.1_Silent_p.R423R|TBRG4_ENST00000361278.3_Silent_p.R313R NM_004749.3 NP_004740.2 Q969Z0 TBRG4_HUMAN transforming growth factor beta regulator 4 423 apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation mitochondrion ATP binding|protein binding|protein kinase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2) 17 TCTGCTTCCCGTGCCTGCTGC 0.612000 4 145 0.150653 0.153893 1 1 0 RGPD3 653489 broad.mit.edu 37 2 107049631 107049631 + Silent SNP C C T TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr2:107049631C>T ENST00000409886.3 - 16 2403 c.2316G>A c.(2314-2316)gcG>gcA p.A772A RGPD3_ENST00000304514.7_Silent_p.A772A NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 772 intracellular transport binding p.A772A(4) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TTTCTGAATCCGCATTTCGCA 0.373000 6 469 0 0 1 0 0 GOLGA6A 342096 broad.mit.edu 37 15 74368296 74368296 + Missense_Mutation SNP G G A TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr15:74368296G>A ENST00000290438.3 - 8 635 c.595C>T c.(595-597)Cgg>Tgg p.R199W NM_001038640.2 NP_001033729.2 Q9NYA3 GOG6A_HUMAN golgin A6 family, member A 199 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1) 16 TGTAACCACCGCTGGAGGACC 0.572000 4 234 0 0 1 0 0 DTX1 1840 broad.mit.edu 37 12 113515335 113515335 + Missense_Mutation SNP T T G TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr12:113515335T>G ENST00000257600.3 + 2 869 c.366T>G c.(364-366)gaT>gaG p.D122E NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 122 WWE 2. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 CGGCCTACGATATGGACATCT 0.622000 4 97 0 0 1 0 0 PRPF18 8559 broad.mit.edu 37 10 13656035 13656035 + Silent SNP A A G TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr10:13656035A>G ENST00000378572.3 + 8 901 c.741A>G c.(739-741)aaA>aaG p.K247K NM_003675.3 NP_003666.1 Q99633 PRP18_HUMAN pre-mRNA processing factor 18 247 mRNA processing|RNA splicing nuclear speck|spliceosomal complex central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1) 17 CTGATATTAAAGAATCAATAA 0.289000 12 62 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 424296 424296 + Silent SNP C C T TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr3:424296C>T ENST00000256509.2 + 18 2760 c.2118C>T c.(2116-2118)aaC>aaT p.N706N CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Silent_p.N690N NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 690 axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TAGCCGTGAACGAAGTAGGGA 0.468000 5 149 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11039088 11039088 + RNA SNP C C A TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr21:11039088C>A ENST00000470054.1 - 0 1115 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCTTTCTGTTCCTTTTCTCCT 0.413000 32 984 6.00712e-18 7.22376e-18 1 1 0 EFCAB6 64800 broad.mit.edu 37 22 44083357 44083357 + Missense_Mutation SNP C C T TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr22:44083357C>T ENST00000262726.7 - 11 1389 c.1136G>A c.(1135-1137)aGa>aAa p.R379K EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K|EFCAB6_ENST00000358439.4_Intron NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) ATACCTATTTCTTTTTGTCAG 0.308000 13 48 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79353667 79353667 + Missense_Mutation SNP G G A TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr4:79353667G>A ENST00000264895.6 + 38 5566 c.5126G>A c.(5125-5127)cGa>cAa p.R1709Q FRAS1_ENST00000325942.6_Missense_Mutation_p.R1709Q NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1708 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TCAGAAGACCGAGGGCCTCGA 0.532000 6 30 0 0 1 0 0 ZNF343 79175 broad.mit.edu 37 20 2464182 2464182 + Silent SNP A A G TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr20:2464182A>G ENST00000278772.4 - 6 1912 c.1425T>C c.(1423-1425)agT>agC p.S475S RP4-734P14.4_ENST00000461548.1_Intron NM_024325.4 NP_077301.4 Q6P1L6 ZN343_HUMAN zinc finger protein 343 475 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S475S(2) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1) 25 GTGATTTCCGACTAAAGCCTC 0.527000 4 164 0 0 1 0 0 SUDS3 64426 broad.mit.edu 37 12 118828940 118828940 + Missense_Mutation SNP G G T TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr12:118828940G>T ENST00000543473.1 + 6 682 c.370G>T c.(370-372)Gtg>Ttg p.V124L SUDS3_ENST00000397564.2_Missense_Mutation_p.V125L NM_022491.2 NP_071936.2 Q9H7L9 SDS3_HUMAN suppressor of defective silencing 3 homolog (S. cerevisiae) 124 chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent Sin3 complex histone deacetylase binding breast(1)|lung(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GACTGAACAAGTGGAACGAAA 0.458000 23 88 4.72057e-08 5.15465e-08 1 1 0 FAM86JP 100125556 broad.mit.edu 37 3 125647387 125647387 + RNA SNP G G A TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr3:125647387G>A ENST00000485843.1 + 0 532 NR_024251.1 ACCAGAAACTGTTTCCCTATG 0.502000 5 259 0 0 1 0 0 CDC6 990 broad.mit.edu 37 17 38449836 38449836 + Missense_Mutation SNP G G A TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr17:38449836G>A ENST00000209728.4 + 5 1260 c.789G>A c.(787-789)atG>atA p.M263I NM_001254.3 NP_001245.1 Q99741 CDC6_HUMAN cell division cycle 6 263 cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cytosol|nucleoplasm|spindle midzone|spindle pole ATP binding|kinase binding|nucleoside-triphosphatase activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 21 GGAAGGACATGATGAGGAAAT 0.473000 97 99 0 0 1 0 0 MPO 4353 broad.mit.edu 37 17 56350977 56350977 + Silent SNP C C T TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr17:56350977C>T ENST00000340482.3 - 8 1691 c.1515G>A c.(1513-1515)agG>agA p.R505R MPO_ENST00000225275.3_Silent_p.R473R P05164 PERM_HUMAN myeloperoxidase 473 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) GCAGGTACTTCCTCATGGCCG 0.572000 71 312 0 0 1 0 0 AASS 10157 broad.mit.edu 37 7 121718036 121718036 + Missense_Mutation SNP C C T TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr7:121718036C>T ENST00000393376.1 - 22 2613 c.2518G>A c.(2518-2520)Gac>Aac p.D840N AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Missense_Mutation_p.D840N Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase 840 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) CCAAAGCTGTCTCTCATCACA 0.353000 38 584 0 0 1 0 0 NUP214 8021 broad.mit.edu 37 9 134019890 134019890 + Silent SNP C C G TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr9:134019890C>G ENST00000359428.5 + 12 1662 c.1518C>G c.(1516-1518)tcC>tcG p.S506S RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000451030.1_Silent_p.S506S|RP11-544A12.4_ENST00000588378.1_RNA|NUP214_ENST00000411637.2_Silent_p.S506S|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA P35658 NU214_HUMAN nucleoporin 214kDa 506 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) CCAGTGGCTCCGACAGCTCCA 0.582000 T """DEK, SET, ABL1""" """AML, T-ALL""" 52 225 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 5 95 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 5 195 0 0 1 0 0 KCNK6 9424 broad.mit.edu 37 19 38817290 38817290 + Missense_Mutation SNP C C T TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr19:38817290C>T ENST00000263372.3 + 2 487 c.380C>T c.(379-381)gCg>gTg p.A127V NM_004823.1 NP_004814.1 Q9Y257 KCNK6_HUMAN potassium channel, subfamily K, member 6 127 voltage-gated potassium channel complex inward rectifier potassium channel activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3) 17 all_cancers(60;5.83e-07) Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613) Ibutilide(DB00308)|Quinidine(DB00908) ATCGCCTTTGCGCTCCTGGGC 0.572000 4 222 0 0 1 0 0 FAM86JP 100125556 broad.mit.edu 37 3 125647396 125647396 + RNA SNP T T C TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr3:125647396T>C ENST00000485843.1 + 0 541 NR_024251.1 TGTTTCCCTATGAAGAGCACT 0.502000 6 265 0 0 1 0 0 OR52E8 390079 broad.mit.edu 37 11 5878253 5878253 + Missense_Mutation SNP A A G TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr11:5878253A>G ENST00000537935.1 - 1 711 c.680T>C c.(679-681)cTg>cCg p.L227P TRIM5_ENST00000380027.1_Intron NM_001005168.1 NP_001005168.1 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, member 8 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GACAGCATACAGGATCCTGAC 0.453000 5 73 0 0 1 0 0 NTNG2 84628 broad.mit.edu 37 9 135073412 135073412 + Silent SNP G G A TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr9:135073412G>A ENST00000393229.3 + 3 1049 c.273G>A c.(271-273)ccG>ccA p.P91P NTNG2_ENST00000393228.4_Silent_p.P91P|NTNG2_ENST00000360670.3_Silent_p.P91P|NTNG2_ENST00000372179.3_Silent_p.P91P NM_032536.2 NP_115925.2 Q96CW9 NTNG2_HUMAN netrin G2 91 Laminin N-terminal. axonogenesis anchored to plasma membrane p.P91P(1) central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) TGGCCCACCCGCCCAGGCTCA 0.647000 4 108 0 0 1 0 0 PEAR1 375033 broad.mit.edu 37 1 156884528 156884528 + Missense_Mutation SNP C C T TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr1:156884528C>T ENST00000338302.3 + 24 3277 c.3052C>T c.(3052-3054)Cat>Tat p.H1018Y PEAR1_ENST00000292357.7_Missense_Mutation_p.H1018Y Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 1018 Pro-rich. integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CATCCCTGGACATTATGACTT 0.622000 32 167 0 0 1 0 0 UBBP4 23666 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 6 367 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3945846 3945846 + Missense_Mutation SNP T T A TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr17:3945846T>A ENST00000381638.2 - 39 6307 c.6183A>T c.(6181-6183)gaA>gaT p.E2061D NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 2061 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GAGATGACACTTCTGAATCTT 0.448000 32 97 0 0 1 0 0 GORASP1 64689 broad.mit.edu 37 3 39142283 39142283 + Missense_Mutation SNP C C T TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr3:39142283C>T ENST00000319283.3 - 5 1342 c.521G>A c.(520-522)cGg>cAg p.R174Q GORASP1_ENST00000479927.1_Missense_Mutation_p.R79Q|GORASP1_ENST00000422110.2_Intron NM_031899.2 NP_114105.1 Q9BQQ3 GORS1_HUMAN golgi reassembly stacking protein 1, 65kDa 174 mitotic prophase|protein transport cytosol|Golgi apparatus|membrane central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) AGTCACCTCCCGGCAGGAGTC 0.587000 OREG0015486 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 341 0 0 1 0 0 TTC31 64427 broad.mit.edu 37 2 74710528 74710528 + Silent SNP C C T TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr2:74710528C>T ENST00000410003.1 + 2 129 c.120C>T c.(118-120)taC>taT p.Y40Y TTC31_ENST00000233623.5_Silent_p.Y40Y|TTC31_ENST00000442235.2_5'UTR|TTC31_ENST00000463189.1_3'UTR Q49AM3 TTC31_HUMAN tetratricopeptide repeat domain 31 40 binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 CAGAGGATTACGGCGAAGAGG 0.577000 OREG0014719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 117 0 0 1 0 0 INTS4 92105 broad.mit.edu 37 11 77618829 77618829 + Silent SNP T T C rs143324770 TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr11:77618829T>C ENST00000534064.1 - 16 1984 c.1950A>G c.(1948-1950)caA>caG p.Q650Q AAMDC_ENST00000532481.1_Intron|INTS4_ENST00000535943.1_Silent_p.Q25Q NM_033547.3 NP_291025.3 Q96HW7 INT4_HUMAN integrator complex subunit 4 650 snRNA processing integrator complex protein binding INTS4/GAB2(2) NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1) 32 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) CCAATTCAGATTGAAGTTCTC 0.403000 39 160 0 0 1 0 0 PADI2 11240 broad.mit.edu 37 1 17413184 17413184 + Missense_Mutation SNP G G A rs141669259 TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr1:17413184G>A ENST00000444885.2 - 5 503 c.422C>T c.(421-423)tCg>tTg p.S141L PADI2_ENST00000375481.1_Silent_p.F222F|PADI2_ENST00000375486.4_Silent_p.F222F Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 0 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity p.F222F(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) AGCGTTGGCCGAAGAACGGGT 0.592000 5 174 0 0 1 0 0 MPO 4353 broad.mit.edu 37 17 56356990 56356990 + Nonsense_Mutation SNP G G A TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr17:56356990G>A ENST00000340482.3 - 4 618 c.442C>T c.(442-444)Cag>Tag p.Q148* MPO_ENST00000225275.3_Nonsense_Mutation_p.Q148* P05164 PERM_HUMAN myeloperoxidase 148 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) ACATTCAGCTGGGCGGGCGTC 0.617000 11 54 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803493 142803493 + RNA SNP T T C rs80149641 by1000genomes TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr1:142803493T>C ENST00000423385.1 - 0 1472 TGTACATTTATTATTGATTTA 0.323000 23 184 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55955644 55955644 + Silent SNP T T C TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr10:55955644T>C ENST00000373965.2 - 11 1498 c.1104A>G c.(1102-1104)gaA>gaG p.E368E PCDH15_ENST00000395433.1_Silent_p.E346E|PCDH15_ENST00000373955.1_Silent_p.E368E|PCDH15_ENST00000373957.3_Silent_p.E346E|PCDH15_ENST00000437009.1_Silent_p.E368E|PCDH15_ENST00000395432.2_Silent_p.E331E|PCDH15_ENST00000395440.1_Silent_p.E368E|PCDH15_ENST00000414778.1_Silent_p.E373E|PCDH15_ENST00000320301.6_Silent_p.E368E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Silent_p.E368E|PCDH15_ENST00000395446.1_Silent_p.E368E|PCDH15_ENST00000395438.1_Silent_p.E368E|PCDH15_ENST00000395430.1_Silent_p.E368E|PCDH15_ENST00000409834.1_5'UTR|PCDH15_ENST00000361849.3_Silent_p.E368E NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 368 Cadherin 3. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CATTGTCTTGTTCAGCCTAAA 0.338000 HNSCC(58;0.16) 7 80 0 0 1 0 0 SIRPA 140885 broad.mit.edu 37 20 1902301 1902301 + Missense_Mutation SNP G G A TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr20:1902301G>A ENST00000358771.4 + 3 849 c.697G>A c.(697-699)Gtc>Atc p.V233I SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I|SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 233 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding p.V233I(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) GGTGGCCCACGTCACCTTGCA 0.617000 5 173 0 0 1 0 0 SIRPA 140885 broad.mit.edu 37 20 1902292 1902292 + Missense_Mutation SNP G G A TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr20:1902292G>A ENST00000358771.4 + 3 840 c.688G>A c.(688-690)Gtg>Atg p.V230M SIRPA_ENST00000400068.3_Missense_Mutation_p.V230M|SIRPA_ENST00000356025.3_Missense_Mutation_p.V230M NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 230 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding p.V230M(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) CATCTGCGAGGTGGCCCACGT 0.612000 4 159 0 0 1 0 0 RGPD2 729857 broad.mit.edu 37 2 88082471 88082471 + Nonsense_Mutation SNP T T A TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr2:88082471T>A ENST00000398146.3 - 20 4294 c.4072A>T c.(4072-4074)Aga>Tga p.R1358* RGPD2_ENST00000327544.6_Nonsense_Mutation_p.R615*|RGPD2_ENST00000420840.2_Nonsense_Mutation_p.R1350* Q68DN6 RGPD1_HUMAN RANBP2-like and GRIP domain containing 2 1350 RanBD1 2. intracellular transport binding breast(1)|pancreas(1) 2 TTATCATATCTGTAGAGTTCT 0.353000 137 421 0 0 1 0 0 CUL7 9820 broad.mit.edu 37 6 43006189 43006189 + Missense_Mutation SNP C C T TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr6:43006189C>T ENST00000535468.1 - 25 4927 c.4841G>A c.(4840-4842)gGc>gAc p.G1614D CUL7_ENST00000265348.3_Missense_Mutation_p.G1530D NM_001168370.1|NM_014780.4 NP_001161842.1|NP_055595.2 Q14999 CUL7_HUMAN cullin 7 1530 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) TTCCTTGCTGCCATCTCGAAT 0.577000 27 120 0 0 1 0 0 SNTG1 54212 broad.mit.edu 37 8 51465702 51465702 + Missense_Mutation SNP C C A TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr8:51465702C>A ENST00000522124.1 + 12 1434 c.773C>A c.(772-774)gCa>gAa p.A258E SNTG1_ENST00000518864.1_Missense_Mutation_p.A258E|SNTG1_ENST00000276467.5_Missense_Mutation_p.A258E|SNTG1_ENST00000517473.1_Missense_Mutation_p.A258E NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 258 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding p.A258V(2) NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TGGCTACAAGCAATAGCAACT 0.428000 9 88 7.48243e-07 8.07762e-07 1 1 0 BCRP7 100133163 broad.mit.edu 37 22 18845962 18845962 + RNA SNP G G A TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr22:18845962G>A ENST00000412938.1 + 0 3320 AGATCTCATCGCGGACACCAC 0.517000 10 67 0 0 1 0 0 ZNF461 92283 broad.mit.edu 37 19 37149318 37149318 + Missense_Mutation SNP T T G TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr19:37149318T>G ENST00000588268.1 - 3 246 c.19A>C c.(19-21)Atg>Ctg p.M7L ZNF461_ENST00000360357.4_Missense_Mutation_p.M7L NM_153257.2 NP_694989.2 Q8TAF7 ZN461_HUMAN zinc finger protein 461 7 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2) 29 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TCTCTGAACATCACCAACTCC 0.363000 13 28 0 0 1 0 0 TLE4 7091 broad.mit.edu 37 9 82321803 82321803 + Missense_Mutation SNP G G C TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr9:82321803G>C ENST00000376520.4 + 11 1753 c.925G>C c.(925-927)Gaa>Caa p.E309Q TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000265284.6_Missense_Mutation_p.E284Q|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376552.2_Missense_Mutation_p.E309Q|TLE4_ENST00000376537.4_Missense_Mutation_p.E309Q O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 CAAATCCAAAGAACTTAGCCT 0.433000 7 354 0 0 1 0 0 NFKB2 4791 broad.mit.edu 37 10 104157408 104157408 + Silent SNP G G A TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr10:104157408G>A ENST00000369966.3 + 8 877 c.627G>A c.(625-627)ctG>ctA p.L209L NFKB2_ENST00000189444.6_Silent_p.L209L|NFKB2_ENST00000428099.1_Silent_p.L209L NM_001077494.2 NP_001070962.1 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) 209 RHD. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2) 23 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) CCCTGCCCCTGAAGCCAGTCA 0.572000 T IGH@ B-NHL 7 334 0 0 1 0 0 VILL 50853 broad.mit.edu 37 3 38044780 38044780 + Missense_Mutation SNP G G A TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr3:38044780G>A ENST00000283713.6 + 15 2047 c.1781G>A c.(1780-1782)cGg>cAg p.R594Q VILL_ENST00000465644.1_Missense_Mutation_p.R312Q|VILL_ENST00000383759.2_Missense_Mutation_p.R594Q O15195 VILL_HUMAN villin-like 594 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) CTGGGAGGCCGGGCCCCCTAC 0.607000 OREG0015475 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 25 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 9 141 0 0 1 0 0 NCAPH 23397 broad.mit.edu 37 2 97024843 97024843 + Missense_Mutation SNP G G A TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr2:97024843G>A ENST00000455200.1 + 10 1531 c.1236G>A c.(1234-1236)atG>atA p.M412I NCAPH_ENST00000427946.1_Missense_Mutation_p.M287I|NCAPH_ENST00000240423.4_Missense_Mutation_p.M423I Q15003 CND2_HUMAN non-SMC condensin I complex, subunit H 423 cell division|mitotic chromosome condensation condensin complex|cytoplasm|microtubule cytoskeleton|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(717;0.0221) TTCTGTCTATGAAACCTGGAG 0.453000 23 123 0 0 1 0 0 NUP37 79023 broad.mit.edu 37 12 102512193 102512193 + Missense_Mutation SNP A A G TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr12:102512193A>G ENST00000552283.1 - 2 243 c.104T>C c.(103-105)cTa>cCa p.L35P NUP37_ENST00000251074.1_Missense_Mutation_p.L35P|NUP37_ENST00000543021.1_5'UTR Q8NFH4 NUP37_HUMAN nucleoporin 37kDa 35 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 endometrium(3)|large_intestine(3)|lung(10)|ovary(1) 17 ATATGCAATTAGGTTTCCTGA 0.403000 44 218 0 0 1 0 0 UBBP4 23666 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 5 247 0.184627 0.186591 1 1 0 PI4KAP2 375133 broad.mit.edu 37 22 21829507 21829507 + RNA SNP G G A rs140118179 by1000genomes TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr22:21829507G>A ENST00000450651.1 - 0 1831 endometrium(3)|urinary_tract(1) 4 TACTTCAAGAGCTTGATTGTC 0.542000 7 44 0 0 1 0 0 CORO7 79585 broad.mit.edu 37 16 4415016 4415016 + Missense_Mutation SNP C C G TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr16:4415016C>G ENST00000251166.4 - 11 1031 c.886G>C c.(886-888)Gcg>Ccg p.A296P CORO7_ENST00000539968.1_Missense_Mutation_p.A76P|CORO7_ENST00000423908.2_Missense_Mutation_p.A128P|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.A296P|CORO7_ENST00000574025.1_Missense_Mutation_p.A211P|CORO7_ENST00000537233.2_Missense_Mutation_p.A278P NM_024535.4 NP_078811.3 coronin 7 breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2) 23 GGGCTCAGCGCCGGCTGCTGC 0.642000 3 26 0 0 1 0 0 KCNK16 83795 broad.mit.edu 37 6 39284197 39284197 + Missense_Mutation SNP T T C TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr6:39284197T>C ENST00000373229.5 - 5 696 c.683A>G c.(682-684)tAt>tGt p.Y228C KCNK16_ENST00000437525.2_Missense_Mutation_p.Y228C|KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000425054.2_Intron|KCNK16_ENST00000373227.4_Intron NM_032115.3 NP_115491.1 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 228 integral to membrane potassium channel activity|voltage-gated ion channel activity large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2) 13 CACTGAGATATAATGCTTGCT 0.612000 10 41 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100493868 100493868 + Silent SNP C C A TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr8:100493868C>A ENST00000395996.1 + 25 3819 c.3708C>A c.(3706-3708)gtC>gtA p.V1236V VPS13B_ENST00000358544.2_Silent_p.V1236V|VPS13B_ENST00000357162.2_Silent_p.V1236V Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1236 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TGAATAAGGTCTGGAACAAGA 0.418000 23 335 2.21704e-12 2.47786e-12 1 1 0 SVIL 6840 broad.mit.edu 37 10 29821003 29821003 + Missense_Mutation SNP C C A TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr10:29821003C>A ENST00000375398.2 - 11 2386 c.1937G>T c.(1936-1938)gGt>gTt p.G646V SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.G646V O95425 SVIL_HUMAN supervillin 646 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) TCTACTTTCACCAGGAGAAAA 0.512000 29 156 1.30897e-18 1.59426e-18 1 1 0 IGIP 492311 broad.mit.edu 37 5 139508162 139508162 + Missense_Mutation SNP G G T TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr5:139508162G>T ENST00000333305.3 + 1 2642 c.101G>T c.(100-102)tGt>tTt p.C34F NM_001007189.1 NP_001007190.1 A6NJ69 IGIP_HUMAN IgA-inducing protein 34 extracellular region AAATCACCATGTGGAAACCAA 0.428000 23 143 1.85244e-09 2.0463e-09 1 1 0 ARID1A 8289 broad.mit.edu 37 1 27100182 27100184 + In_Frame_Del DEL GCA GCA - TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr1:27100182_27100184delGCA ENST00000324856.7 + 16 4349_4351 c.3978_3980delGCA c.(3976-3981)ccg>cc p.PQ1326del ARID1A_ENST00000457599.2_In_Frame_Del_p.PQ1326del|ARID1A_ENST00000374152.2_In_Frame_Del_p.PQ943del|ARID1A_ENST00000540690.1_5'UTR NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1326 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.Q1327*(1)|p.Q1334delQ(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCTACCCCCCgcagcagcagcag 0.591 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 7 232 --- --- --- --- SYCP1 6847 broad.mit.edu 37 1 115537600 115537601 + Frame_Shift_Ins INS - - A TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr1:115537600_115537601insA ENST00000369522.3 + 32 3131_3132 c.2891_2892insA c.(2890-2892)aaafs p.K964fs SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.K964fs NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 964 Arg/Lys-rich (basic). cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AAAATGGATAGAAAAAAAAAAC 0.356 9 122 --- --- --- --- GRIP2 80852 broad.mit.edu 37 3 14555758 14555759 + RNA INS - - AGTT rs10656368 by1000genomes TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr3:14555758_14555759insAGTT ENST00000273083.3 - 0 1558 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 CAGTTTCTCTCAGAGAGTGGCA 0.579 3 3 --- --- --- --- IGF2R 3482 broad.mit.edu 37 6 160485488 160485488 + Frame_Shift_Del DEL G G - TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr6:160485488delG ENST00000356956.1 + 28 4090 c.3942delG c.(3940-3942)acfs p.T1314fs NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 1314 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) TGAACTTCACGGGGGGGGACA 0.502 8 397 --- --- --- --- TRBV7-4 28594 broad.mit.edu 37 7 142176678 142176679 + RNA DEL CA CA - TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr7:142176678_142176679delCA ENST00000390369.2 - 0 49 GTAGTCATCGCACACACACACA 0.460 7 135 --- --- --- --- TSPAN4 7106 broad.mit.edu 37 11 864443 864445 + In_Frame_Del DEL CTG CTG - rs61867552 byFrequency TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr11:864443_864445delCTG ENST00000397404.1 + 5 521_523 c.262_264delCTG c.(262-264)del p.L92del TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del NM_001025237.1 NP_001020408.1 O14817 TSN4_HUMAN tetraspanin 4 92 protein complex assembly integral to plasma membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACAGTTCTTCCTGCTGCTGCTGC 0.650 10 315 --- --- --- --- NUP98 4928 broad.mit.edu 37 11 3720389 3720389 + Frame_Shift_Del DEL T T - TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr11:3720389delT ENST00000324932.7 - 25 4352 c.3932delA c.(3931-3933)acfs p.N1311fs NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1328 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CACAGGGCTGTTTTTTTGGGT 0.512 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 8 623 --- --- --- --- FAM111B 374393 broad.mit.edu 37 11 58892377 58892377 + Frame_Shift_Del DEL A A - TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr11:58892377delA ENST00000343597.3 + 4 998 c.807delA c.(805-807)tcfs p.S269fs FAM111B_ENST00000529618.1_Frame_Shift_Del_p.S239fs|FAM111B_ENST00000411426.1_Frame_Shift_Del_p.S239fs NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 269 catalytic activity p.A273fs*9(1)|p.K272delK(1)|p.A273fs*26(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 TGGACATTTCAAAAAAAAAAG 0.313 9 104 --- --- --- --- FAU 2197 broad.mit.edu 37 11 64888248 64888250 + In_Frame_Del DEL TCT TCT - rs1065065 TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr11:64888248_64888250delTCT ENST00000529639.1 - 5 696_698 c.305_307delAGA c.(304-309)aca>a p.KT102del FAU_ENST00000279259.3_In_Frame_Del_p.ED83del|FAU_ENST00000525297.1_In_Frame_Del_p.KT67del|FAU_ENST00000529259.1_3'UTR|FAU_ENST00000527548.1_In_Frame_Del_p.KT102del|FAU_ENST00000531743.1_In_Frame_Del_p.KT102del NM_001997.4 NP_001988.1 P35544 UBIM_HUMAN Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed 0 NS(3)|kidney(1)|large_intestine(2) 6 GCCCGACCTGTCTTCTTCTTCTT 0.542 8 250 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1018 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 7 323 --- --- --- --- LOC102723841 102723841 broad.mit.edu 37 16 33365420 33365420 + RNA DEL A A - TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr16:33365420delA ENST00000568520.1 - 0 249 TACAAACTATAAAAAAACAGA 0.358 4 5 --- --- --- --- FLCN 201163 broad.mit.edu 37 17 17131423 17131423 + Frame_Shift_Del DEL A A - TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr17:17131423delA ENST00000285071.4 - 4 483 c.29delT c.(28-30)tcfs p.F10fs RP11-45M22.4_ENST00000427497.3_Frame_Shift_Del_p.F10fs|FLCN_ENST00000389169.5_Frame_Shift_Del_p.F10fs NM_144997.5 NP_659434.2 Q8NFG4 FLCN_HUMAN folliculin 10 regulation of protein phosphorylation cytoplasm|nucleus|plasma membrane protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GAGCTCGCAGAAGTGGCAGAG 0.612 Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dubé syndrome 25 51 --- --- --- --- CHERP 10523 broad.mit.edu 37 19 16640581 16640583 + In_Frame_Del DEL TGC TGC - TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr19:16640581_16640583delTGC ENST00000546361.2 - 8 1156_1158 c.1005_1007delGCA c.(1003-1008)caa>ca p.QQ339del CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 339 Gln-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 ctgctgctgttgctgctgctgct 0.670 8 93 --- --- --- --- TEAD2 8463 broad.mit.edu 37 19 49850472 49850473 + Frame_Shift_Ins INS - - G TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr19:49850472_49850473insG ENST00000377214.4 - 8 1254_1255 c.892_893insC c.(892-894)tgcfs p.C298fs TEAD2_ENST00000311227.2_Frame_Shift_Ins_p.C295fs|TEAD2_ENST00000593945.1_Frame_Shift_Ins_p.C299fs|TEAD2_ENST00000601519.1_Frame_Shift_Ins_p.C298fs|TEAD2_ENST00000598810.1_Frame_Shift_Ins_p.C299fs|TEAD2_ENST00000539846.1_Frame_Shift_Ins_p.C167fs Q15562 TEAD2_HUMAN TEA domain family member 2 295 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.H295fs*12(1) central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 29 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) GAAGAAGGCATGGGGGGGGCCA 0.564 9 561 --- --- --- --- USP29 57663 broad.mit.edu 37 19 57640238 57640239 + Frame_Shift_Ins INS - - A TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr19:57640238_57640239insA ENST00000254181.4 + 4 649_650 c.195_196insA c.(193-198)tgaaaafs p.*K65fs USP29_ENST00000598197.1_Frame_Shift_Ins_p.*K65fs NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 65 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity p.R68fs*7(1) breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTAGACATTGTAAAAAAAGACA 0.327 22 57 --- --- --- --- FRG1B 284802 broad.mit.edu 37 20 29628226 29628226 + Splice_Site DEL G G - rs78710112 by1000genomes TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e9bb6b-c9e8-4961-bc38-a6225237c3da 1459d76e-a2f2-4413-b44e-03a2e67ea76b g.chr20:29628226delG ENST00000278882.3 + 6 608 c.e6-1 FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTTCACTTAGGGGAAAATGG 0.358 8 363 --- --- --- ---