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 CORO7 79585 broad.mit.edu 37 16 4409369 4409369 + Missense_Mutation SNP G G C TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr16:4409369G>C ENST00000251166.4 - 23 2413 c.2268C>G c.(2266-2268)ttC>ttG p.F756L CORO7_ENST00000539968.1_Missense_Mutation_p.F536L|CORO7_ENST00000574025.1_Missense_Mutation_p.F671L|CORO7_ENST00000537233.2_Missense_Mutation_p.F738L|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.F756L 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 GCTCGTACAGGAATACACGGG 0.667000 OREG0023580 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 28 0 0 0.003080 0 0 FAM179A 165186 broad.mit.edu 37 2 29274814 29274814 + Missense_Mutation SNP C C T TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr2:29274814C>T ENST00000379558.4 + 20 3266 c.2915C>T c.(2914-2916)gCc>gTc p.A972V FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.A917V NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 972 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CTGGACTTTGCCGCCAGCCAG 0.657000 3 27 0 0 0.004672 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128840216 128840216 + Missense_Mutation SNP A A C TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr11:128840216A>C ENST00000310343.9 - 22 4849 c.4850T>G c.(4849-4851)cTg>cGg p.L1617R ARHGAP32_ENST00000392657.3_Missense_Mutation_p.L1268R|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.L1268R NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 1617 Interaction with GAB2. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 ATATTGGTACAGAGGTCTTGG 0.522000 44 44 0 0 0.008740 0 0 PTPRD 5789 broad.mit.edu 37 9 8465600 8465600 + Missense_Mutation SNP C C T TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr9:8465600C>T ENST00000381196.4 - 29 4123 c.3580G>A c.(3580-3582)Gct>Act p.A1194T PTPRD_ENST00000540109.1_Missense_Mutation_p.A1194T|PTPRD_ENST00000537002.1_Missense_Mutation_p.A780T|PTPRD_ENST00000486161.1_Missense_Mutation_p.A783T|PTPRD_ENST00000355233.5_Missense_Mutation_p.A783T|PTPRD_ENST00000397611.3_Missense_Mutation_p.A780T|PTPRD_ENST00000397606.3_Missense_Mutation_p.A773T|PTPRD_ENST00000397617.3_Missense_Mutation_p.A773T|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1172T|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1194T|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1181T NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1194 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TCAAAGTGAGCGGCAATATAT 0.428000 TSP Lung(15;0.13) 54 98 0 0 0.003610 0 0 TRBV7-8 0 broad.mit.edu 37 7 142099660 142099660 + RNA SNP G G A TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr7:142099660G>A ENST00000390359.3 - 0 180 AGGGATACATGACCCGAAATT 0.517000 8 112 0 0 0.003080 0 0 FAT4 79633 broad.mit.edu 37 4 126336901 126336901 + Silent SNP A A G TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr4:126336901A>G ENST00000394329.3 + 5 6796 c.6783A>G c.(6781-6783)ctA>ctG p.L2261L FAT4_ENST00000335110.5_Silent_p.L559L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2261 Cadherin 22. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TATTTGAGCTATCTCCATATT 0.388000 9 104 0 0 0.006214 0 0 DNAH1 25981 broad.mit.edu 37 3 52388985 52388985 + Missense_Mutation SNP A A G TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr3:52388985A>G ENST00000420323.2 + 21 3868 c.3607A>G c.(3607-3609)Atg>Gtg p.M1203V NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1203 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CCACATCGTCATGACCCAGAA 0.557000 33 68 0 0 0.003755 0 0 UGT2A1 10941 broad.mit.edu 37 4 70460903 70460903 + Missense_Mutation SNP C C A TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr4:70460903C>A ENST00000503640.1 - 4 1116 c.1061G>T c.(1060-1062)tGg>tTg p.W354L UGT2A1_ENST00000514019.1_Missense_Mutation_p.W520L|UGT2A2_ENST00000457664.2_Missense_Mutation_p.W363L|UGT2A1_ENST00000286604.4_Missense_Mutation_p.W354L|UGT2A1_ENST00000512704.1_Missense_Mutation_p.W310L|UGT2A1_ENST00000502343.1_5'UTR NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 354 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 CTGGGGTATCCAATCAAAGAG 0.363000 17 127 3.32936e-07 4.2806e-07 0.006122 1 0 ZNF626 199777 broad.mit.edu 37 19 20807787 20807787 + Missense_Mutation SNP G G A TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr19:20807787G>A ENST00000601440.1 - 4 1042 c.896C>T c.(895-897)aCc>aTc p.T299I CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 TGTAGTAAGGGTTGAGGACCG 0.368000 4 210 0 0 0.001168 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79768579 79768579 + Splice_Site SNP G G T TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr5:79768579G>T ENST00000338008.5 + 15 4204 c.e15-1 ZFYVE16_ENST00000510158.1_Splice_Site|ZFYVE16_ENST00000505560.1_Splice_Site NM_014733.3 NP_055548.3 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) CTCATTTCTAGATGGCTTAAT 0.348000 36 82 2.51966e-14 3.30705e-14 0.003610 1 0 ZNF626 199777 broad.mit.edu 37 19 20807796 20807796 + Missense_Mutation SNP C C T TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr19:20807796C>T ENST00000601440.1 - 4 1033 c.887G>A c.(886-888)cGg>cAg p.R296Q CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 296 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 GGTTGAGGACCGGTTGAAGGC 0.388000 4 206 0 0 0.001168 0 0 BNC1 646 broad.mit.edu 37 15 83935700 83935700 + Missense_Mutation SNP A A G TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr15:83935700A>G ENST00000345382.2 - 3 408 c.323T>C c.(322-324)cTa>cCa p.L108P BNC1_ENST00000569704.1_Missense_Mutation_p.L101P|RP11-382A20.4_ENST00000565495.1_RNA NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 108 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 TAGGATTTTTAGGCGAACGGG 0.502000 3 151 0 0 0.004672 0 0 NDC80 10403 broad.mit.edu 37 18 2599022 2599022 + Missense_Mutation SNP A A G TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr18:2599022A>G ENST00000261597.4 + 12 1408 c.1226A>G c.(1225-1227)gAa>gGa p.E409G NM_006101.2 NP_006092.1 O14777 NDC80_HUMAN NDC80 kinetochore complex component 409 Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A.|Interaction with SMC1A.|Interaction with the N-terminus of CDCA1. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2) 22 TTACAGATTGAAACACAATTA 0.289000 35 69 0 0 0.002836 0 0 HLA-DPB1 3115 broad.mit.edu 37 6 33043841 33043841 + Missense_Mutation SNP C C T TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr6:33043841C>T ENST00000418931.2 + 1 139 c.23C>T c.(22-24)gCg>gTg p.A8V HLA-DPA1_ENST00000419277.1_Intron|HLA-DPB1_ENST00000535465.1_Missense_Mutation_p.A8V NM_002121.5 NP_002112.3 P04440 DPB1_HUMAN major histocompatibility complex, class II, DP beta 1 8 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 11 CAGGTTTCTGCGGCCCCCCGG 0.547000 3 40 0 0 0.004672 0 0 MAGEE1 57692 broad.mit.edu 37 X 75650162 75650162 + Silent SNP G G A TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chrX:75650162G>A ENST00000361470.2 + 1 2117 c.1839G>A c.(1837-1839)caG>caA p.Q613Q NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 613 MAGE 1. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 TGGGGGTGCAGCGGGAAAGGA 0.493000 6 84 0 0 0.001168 0 0 ITSN1 6453 broad.mit.edu 37 21 35255856 35255856 + Silent SNP T T C TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr21:35255856T>C ENST00000381318.3 + 36 4845 c.4557T>C c.(4555-4557)ccT>ccC p.P1519P ITSN1_ENST00000399367.3_Silent_p.P1514P|ITSN1_ENST00000437442.2_Silent_p.P1458P|ITSN1_ENST00000381285.4_Silent_p.P1519P|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_3'UTR NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 1519 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 CTTTCCAGCCTATTTTCCTAA 0.498000 3 243 0 0 0.004672 0 0 LINC00264 0 broad.mit.edu 37 10 26880338 26880338 + RNA SNP G G C rs3118888 by1000genomes TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr10:26880338G>C ENST00000412114.1 + 0 573 NR_026793.1 GCTGAAACATGGAAGGTAAAA 0.483000 3 31 0 0 0.000248 0 0 TGFBI 7045 broad.mit.edu 37 5 135390519 135390519 + Missense_Mutation SNP G G A TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr5:135390519G>A ENST00000442011.2 + 10 1540 c.1379G>A c.(1378-1380)gGc>gAc p.G460D TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 460 FAS1 3. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding p.G460D(1) breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ACTCTGGGCGGCAAAAAACTG 0.423000 6 356 0 0 0.001984 0 0 OR4C6 219432 broad.mit.edu 37 11 55433283 55433283 + Missense_Mutation SNP C C T TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr11:55433283C>T ENST00000314259.3 + 1 670 c.641C>T c.(640-642)gCg>gTg p.A214V NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 ATCTTAATTGCGTCCTACACG 0.522000 23 163 0 0 0.002299 0 0 NLRX1 79671 broad.mit.edu 37 11 119053828 119053828 + Splice_Site SNP C C T TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr11:119053828C>T ENST00000409109.1 + 10 3195 c.2606_splice c.e10-1 p.L870_splice NLRX1_ENST00000525863.1_Intron|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000292199.2_Splice_Site_p.L870_splice|NLRX1_ENST00000409991.1_Splice_Site_p.L870_splice|NLRX1_ENST00000409265.4_Intron Q86UT6 NLRX1_HUMAN NLR family member X1 870 Required for the repression of MAVS- induced interferon signaling. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) TCCTGCCAGCCTCTACTTCAA 0.592000 10 36 0 0 0.008291 0 0 FAM196A 642938 broad.mit.edu 37 10 128974640 128974640 + Missense_Mutation SNP C C T TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr10:128974640C>T ENST00000522781.1 - 4 575 c.20G>A c.(19-21)gGc>gAc p.G7D FAM196A_ENST00000424811.2_Missense_Mutation_p.G7D|DOCK1_ENST00000280333.6_Intron NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 7 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 TATGCATTTGCCGGTGTCCTT 0.527000 4 238 0 0 0.000248 0 0 GOSR1 9527 broad.mit.edu 37 17 28811716 28811716 + Silent SNP C C T TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr17:28811716C>T ENST00000225724.5 + 4 348 c.276C>T c.(274-276)acC>acT p.T92T GOSR1_ENST00000467337.2_Silent_p.T27T|GOSR1_ENST00000451249.2_Silent_p.T90T|GOSR1_ENST00000581721.1_Silent_p.T92T NM_001007024.1|NM_001007025.1|NM_004871.2 NP_001007025.1|NP_001007026.1|NP_004862.1 O95249 GOSR1_HUMAN golgi SNAP receptor complex member 1 92 intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane|SNARE complex SNAP receptor activity endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 12 CAGAATATACCAACAGTGCAG 0.363000 12 70 0 0 0.001368 0 0 SDHAP1 0 broad.mit.edu 37 3 195698264 195698264 + RNA SNP T T C rs12485654 by1000genomes TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr3:195698264T>C ENST00000427841.1 - 0 1608 NR_003264.2 TTTGTCAACATTCGTGACAGA 0.413000 3 97 0 0 0.000602 0 0 PPARA 5465 broad.mit.edu 37 22 46627935 46627935 + Missense_Mutation SNP A A G TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr22:46627935A>G ENST00000396000.2 + 7 1223 c.958A>G c.(958-960)Atg>Gtg p.M320V PPARA_ENST00000402126.1_Missense_Mutation_p.M320V|PPARA_ENST00000407236.1_Missense_Mutation_p.M320V|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000262735.5_Missense_Mutation_p.M320V Q07869 PPARA_HUMAN peroxisome proliferator-activated receptor alpha 320 Ligand-binding.|Required for heterodimerization with RXRA. fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 15 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641) CATATTCGCCATGCTGTCTTC 0.463000 14 231 0 0 0.004007 0 0 RRP7B 0 broad.mit.edu 37 22 42971987 42971987 + RNA SNP T T C rs137064 by1000genomes TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr22:42971987T>C ENST00000357802.2 - 0 733 p.Q59R(1) CAGCTCTTTTTGGCTGCGCTT 0.672000 3 35 0 0 0.004672 0 0 ZNF804B 219578 broad.mit.edu 37 7 88962796 88962796 + Missense_Mutation SNP T T C TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr7:88962796T>C ENST00000333190.4 + 4 1109 c.500T>C c.(499-501)cTc>cCc p.L167P NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 167 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AGTGCTCTTCTCCTTAAAGGA 0.443000 HNSCC(36;0.09) 4 107 0 0 0.000248 0 0 SDHAP1 0 broad.mit.edu 37 3 195698262 195698262 + RNA SNP C C G rs28503679 by1000genomes TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr3:195698262C>G ENST00000427841.1 - 0 1610 NR_003264.2 AATTTGTCAACATTCGTGACA 0.418000 3 102 0 0 0.000602 0 0 SCAI 286205 broad.mit.edu 37 9 127790688 127790688 + Missense_Mutation SNP C C A TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr9:127790688C>A ENST00000336505.5 - 5 454 c.396G>T c.(394-396)caG>caT p.Q132H SCAI_ENST00000373549.4_Missense_Mutation_p.Q155H NM_001144877.2 NP_001138349.1 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion 132 Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).|Required for interaction with MKL1 (By similarity). negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity p.Q155H(9) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1) 35 GATAGTATAGCTGCCCAATCT 0.338000 12 111 4.84862e-15 6.49921e-15 0.000978 1 0 LRRC8A 56262 broad.mit.edu 37 9 131670524 131670524 + Missense_Mutation SNP A A C TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr9:131670524A>C ENST00000259324.5 + 3 1604 c.1081A>C c.(1081-1083)Agc>Cgc p.S361R LRRC8A_ENST00000372599.3_Missense_Mutation_p.S361R|LRRC8A_ENST00000372600.4_Missense_Mutation_p.S361R NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 361 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 TGAGGAGAGCAGCTACAGCGA 0.547000 39 62 0 0 0.003610 0 0 CPNE5 57699 broad.mit.edu 37 6 36710082 36710082 + Missense_Mutation SNP C C T rs3830138 byFrequency TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr6:36710082C>T ENST00000244751.2 - 21 2369 c.1745G>A c.(1744-1746)cGc>cAc p.R582H CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Missense_Mutation_p.R290H NM_020939.1 NP_065990.1 Q9HCH3 CPNE5_HUMAN copine V 582 R -> H (in dbSNP:rs3830138). central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 AGGGGGCGTGCGGGCTGGGGA 0.687000 4 72 0 0 0.000248 0 0 CSMD2 114784 broad.mit.edu 37 1 34089026 34089026 + Nonsense_Mutation SNP G G T TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr1:34089026G>T ENST00000373381.4 - 36 5842 c.5666C>A c.(5665-5667)tCg>tAg p.S1889* CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373380.1_Nonsense_Mutation_p.S762* NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1849 CUB 11. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TACTTCCAGCGAGTCCCAGTT 0.502000 50 82 2.73381e-35 3.74413e-35 0.003610 1 0 HS3ST1 9957 broad.mit.edu 37 4 11400850 11400850 + Silent SNP G G A TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr4:11400850G>A ENST00000002596.5 - 2 1954 c.780C>T c.(778-780)agC>agT p.S260S NM_005114.2 NP_005105.1 O14792 HS3S1_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 1 260 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 GGTCCCGGCCGCTGTCCCGCA 0.502000 6 125 0 0 0.001168 0 0 DIO1 1733 broad.mit.edu 37 1 54360073 54360073 + Missense_Mutation SNP A A G rs143572229 TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr1:54360073A>G ENST00000361921.3 + 1 214 c.190A>G c.(190-192)Acc>Gcc p.T64A DIO1_ENST00000388876.3_Missense_Mutation_p.T64A|DIO1_ENST00000322679.6_Missense_Mutation_p.T64A|DIO1_ENST00000525202.1_Intron|DIO1_ENST00000524406.1_Intron|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Missense_Mutation_p.T64A NM_000792.5|NM_213593.3 NP_000783.2|NP_998758.1 P49895 IOD1_HUMAN deiodinase, iodothyronine, type I 64 hormone biosynthetic process|thyroid hormone generation endoplasmic reticulum membrane|integral to membrane|plasma membrane selenium binding|thyroxine 5'-deiodinase activity cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1) 9 CTGGATACCAACCTTTTTCAG 0.547000 69 139 0 0 0.003610 0 0 PABPN1 8106 broad.mit.edu 37 14 23792253 23792253 + Missense_Mutation SNP C C T TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr14:23792253C>T ENST00000397276.2 + 3 525 c.512C>T c.(511-513)gCc>gTc p.A171V PABPN1_ENST00000216727.4_Missense_Mutation_p.A171V|PABPN1_ENST00000556821.1_Missense_Mutation_p.A43V|PABPN1_ENST00000557702.1_Missense_Mutation_p.A43V|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.A198V|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.A198V poly(A) binding protein, nuclear 1 large_intestine(1)|lung(1)|ovary(2) 4 all_cancers(95;6.69e-06) GBM - Glioblastoma multiforme(265;0.00643) GAGGCTGATGCCCGTTCCATC 0.438000 4 242 0 0 0.000602 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 4 73 0 0 0.000602 0 0 UBB 7314 broad.mit.edu 37 17 16285560 16285560 + Silent SNP T T C TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr17:16285560T>C ENST00000302182.3 + 2 731 c.339T>C c.(337-339)ccT>ccC p.P113P RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.P113P|UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 113 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AAGGCATCCCTCCCGACCAGC 0.557000 4 197 0 0 0.000248 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211648 78211648 + RNA SNP A A G TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr15:78211648A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CGCCAGGGATAGGGGCTCAGC 0.522000 4 88 0 0 0.001168 0 0 SUV420H2 84787 broad.mit.edu 37 19 55853326 55853326 + Missense_Mutation SNP G G A TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr19:55853326G>A ENST00000255613.3 + 2 270 c.22G>A c.(22-24)Gca>Aca p.A8T AC020922.1_ENST00000539076.1_5'UTR|SUV420H2_ENST00000402499.4_3'UTR NM_032701.3 NP_116090.2 Q86Y97 SV422_HUMAN suppressor of variegation 4-20 homolog 2 (Drosophila) 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2) 4 Breast(117;0.191) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) CAGAGTGACAGCACGAGAACT 0.652000 9 143 0 0 0.006214 0 0 ZC3H14 79882 broad.mit.edu 37 14 89075665 89075665 + Silent SNP T T C TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr14:89075665T>C ENST00000251038.5 + 14 2148 c.1923T>C c.(1921-1923)tgT>tgC p.C641C ZC3H14_ENST00000556945.1_Silent_p.C510C|ZC3H14_ENST00000555900.1_Silent_p.C343C|ZC3H14_ENST00000555755.1_Silent_p.C636C|ZC3H14_ENST00000557607.1_Silent_p.C330C|ZC3H14_ENST00000406216.3_Silent_p.C187C|ZC3H14_ENST00000393514.5_Silent_p.C616C|ZC3H14_ENST00000359301.3_Silent_p.C476C|ZC3H14_ENST00000336693.4_Silent_p.C476C|ZC3H14_ENST00000318308.6_Silent_p.C212C|ZC3H14_ENST00000302216.8_Silent_p.C485C NM_001160103.1|NM_001160104.1|NM_024824.4 NP_001153575.1|NP_001153576.1|NP_079100.2 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 641 cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 ACCCAAATTGTAAATATGATG 0.358000 3 153 0 0 0.004672 0 0 C16orf58 64755 broad.mit.edu 37 16 31504977 31504977 + Missense_Mutation SNP C C G TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr16:31504977C>G ENST00000327237.2 - 8 944 c.905G>C c.(904-906)aGg>aCg p.R302T C16orf58_ENST00000570164.1_Missense_Mutation_p.R300T|C16orf58_ENST00000430477.2_Missense_Mutation_p.R160T|C16orf58_ENST00000567994.1_Missense_Mutation_p.R257T Q96GQ5 CP058_HUMAN chromosome 16 open reading frame 58 302 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1) 14 TACCTCTCCCCTCTGAAGGTA 0.632000 10 58 0 0 0.000978 0 0 CDHR5 53841 broad.mit.edu 37 11 624828 624828 + Silent SNP G G T TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr11:624828G>T ENST00000358353.3 - 2 397 c.75C>A c.(73-75)gcC>gcA p.A25A CDHR5_ENST00000529337.1_Intron|CDHR5_ENST00000349570.7_Silent_p.A25A|CDHR5_ENST00000397542.2_Silent_p.A25A Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 25 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 ACTGGGCCTGGGCCATGGTCC 0.701000 7 15 0.00198382 0.00240347 0.001984 1 0 ZNF106 64397 broad.mit.edu 37 15 42713287 42713287 + Missense_Mutation SNP A A C TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr15:42713287A>C ENST00000263805.4 - 17 5746 c.5420T>G c.(5419-5421)cTt>cGt p.L1807R ZNF106_ENST00000565380.1_Missense_Mutation_p.L1035R|ZNF106_ENST00000565611.1_Missense_Mutation_p.L992R NM_022473.1 NP_071918.1 zinc finger protein 106 CATCAGATTAAGCCTCACGGC 0.413000 14 156 0 0 0.001855 0 0 MAP3K8 1326 broad.mit.edu 37 10 30736732 30736732 + Missense_Mutation SNP C C T TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr10:30736732C>T ENST00000263056.1 + 4 1054 c.358C>T c.(358-360)Cgt>Tgt p.R120C MAP3K8_ENST00000542547.1_Missense_Mutation_p.R120C|MAP3K8_ENST00000375321.1_Missense_Mutation_p.R120C NM_001244134.1|NM_005204.3 NP_001231063.1|NP_005195.2 P41279 M3K8_HUMAN mitogen-activated protein kinase kinase kinase 8 120 cell cycle|T cell costimulation cytosol ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Prostate(175;0.151) CCAAAATGGACGTTACCAAAT 0.433000 80 122 0 0 0.003610 0 0 SASH1 23328 broad.mit.edu 37 6 148664242 148664243 + In_Frame_Ins INS - - GAGCCC rs76317765 TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr6:148664242_148664243insGAGCCC ENST00000367467.3 + 1 514_515 c.39_40insGAGCCC c.(37-42)ccagcc>ccGAGCCCagcc p.12_13insPS SASH1_ENST00000367469.1_Intron NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 12 Pro-rich. protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) ggccggagcctgagcccgagcc 0.792 4 7 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651199 1651228 + In_Frame_Del DEL AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC - rs35089393 by1000genomes TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC ENST00000399676.2 + 1 167_196 c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC c.(127-159)ggg>gg p.GGCGGCGSGCA43del NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 43 G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ccggctgtggaggctgtgggggctgtggctccggctgtgcgggctgtggg 0.691 11 58 --- --- --- --- ONECUT1 3175 broad.mit.edu 37 15 53081466 53081467 + Frame_Shift_Ins INS - - G TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr15:53081466_53081467insG ENST00000305901.5 - 1 742_743 c.615_616insC c.(613-618)gcccatfs p.H206fs ONECUT1_ENST00000561401.2_Intron NM_004498.2 NP_004489.1 Q9UBC0 HNF6_HUMAN one cut homeobox 1 206 endocrine pancreas development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 17 all cancers(107;0.0708) GTGGGCATGGCGGCCCCCGGGT 0.713 11 172 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74378976 74378976 + RNA DEL T T - rs35591542 TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr16:74378976delT ENST00000429810.2 - 0 1086 ACCTCTTGAAttttttttttt 0.418 2 4 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 2 4 --- --- --- --- CRYBB2P1 0 broad.mit.edu 37 22 25853204 25853205 + RNA INS - - C TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chr22:25853204_25853205insC ENST00000354451.2 + 0 123 CATACTCACTTCCCCCCATCCT 0.535 8 10 --- --- --- --- VCX3B 0 broad.mit.edu 37 X 8434047 8434076 + In_Frame_Del DEL GAACCACTGAGTCAGGAGAGCCAGGTGGAG GAACCACTGAGTCAGGAGAGCCAGGTGGAG - rs5978241 TCGA-BJ-A0ZF-01A-11D-A10S-08 TCGA-BJ-A0ZF-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 362c568e-71ea-44ff-89a4-12f2a88c4134 36a50022-0a00-48e8-844d-92cf8c0758de g.chrX:8434047_8434076delGAACCACTGAGTCAGGAGAGCCAGGTGGAG ENST00000381032.1 + 3 671_700 c.364_393delGAACCACTGAGTCAGGAGAGCCAGGTGGAG c.(364-393)del p.EPLSQESQVE122del VCX3B_ENST00000453306.1_In_Frame_Del_p.EPLSQESQVE122del|VCX3B_ENST00000381029.4_In_Frame_Del_p.EPLSQESQVE100del|VCX3B_ENST00000444481.1_Splice_Site_p.122_splice|VCX3B_ENST00000440654.2_Intron NM_001001888.3 NP_001001888.3 Q9H321 VCX3B_HUMAN variable charge, X-linked 3B 122 11 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P. nucleolus NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3) 11 CGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGA 0.622 8 52 --- --- --- ---