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 TFCP2 7024 broad.mit.edu 37 12 51501129 51501129 + Splice_Site SNP G G C TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr12:51501129G>C ENST00000307660.4 - 6 1285 c.564_splice c.e6-1 p.P189_splice TFCP2_ENST00000549867.1_Splice_Site_p.P240_splice|TFCP2_ENST00000548115.1_Splice_Site_p.P189_splice|TFCP2_ENST00000257915.5_Splice_Site_p.P240_splice NM_001173453.1 NP_001166924.1 Q12800 TFCP2_HUMAN transcription factor CP2 240 DNA-binding. regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 23 GCACCTTTGGGCTGAAATGAG 0.333000 65 138 0 0 0.003610 0 0 ZNF66 7617 broad.mit.edu 37 19 20976601 20976601 + Nonsense_Mutation SNP C C G TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr19:20976601C>G ENST00000344519.8 + 3 166 c.143C>G c.(142-144)tCa>tGa p.S48* ZNF66_ENST00000425625.1_Nonsense_Mutation_p.S94*|ZNF66_ENST00000360204.5_Nonsense_Mutation_p.S26*|ZNF66_ENST00000594534.1_Nonsense_Mutation_p.S48* p.S94*(1)|p.S48*(1) ATTGTTGTCTCAAAGCCAGAC 0.398000 11 172 0 0 0.001855 0 0 GNL1 2794 broad.mit.edu 37 6 30522868 30522868 + Missense_Mutation SNP C C G TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr6:30522868C>G ENST00000376621.3 - 3 1310 c.340G>C c.(340-342)Gag>Cag p.E114Q NM_005275.3 NP_005266.2 P36915 GNL1_HUMAN guanine nucleotide binding protein-like 1 114 response to DNA damage stimulus|signal transduction|T cell mediated immunity extracellular space|intracellular GTP binding|structural molecule activity p.E114Q(1) cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 ATGTCCAGCTCCAACAACTCA 0.552000 14 97 0 0 0.001855 0 0 CLTC 1213 broad.mit.edu 37 17 57762973 57762973 + Missense_Mutation SNP C C G TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr17:57762973C>G ENST00000269122.3 + 30 4905 c.4631C>G c.(4630-4632)tCt>tGt p.S1544C CLTC_ENST00000579456.1_Missense_Mutation_p.S481C|CLTC_ENST00000393043.1_Missense_Mutation_p.S1544C NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 1544 Heavy chain arm.|Proximal segment. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity p.S1544C(1) CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) GCTTCTGAATCTAAAGATACT 0.368000 T """ALK, TFE3""" """ALCL, renal """ 9 141 0 0 0.006214 0 0 REV3L 5980 broad.mit.edu 37 6 111632428 111632428 + Missense_Mutation SNP G G A rs142379750 TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr6:111632428G>A ENST00000435970.1 - 31 9221 c.8405C>T c.(8404-8406)aCg>aTg p.T2802M REV3L_ENST00000462119.1_5'UTR|RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000368802.3_Missense_Mutation_p.T2880M|REV3L_ENST00000358835.3_Missense_Mutation_p.T2880M|REV3L_ENST00000368805.1_Missense_Mutation_p.T2880M O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 2880 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding p.T2802M(1)|p.T2880M(1) NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TATATCTCTCGTTTCAAATAG 0.333000 DNA polymerases (catalytic subunits) 39 243 0 0 0.006999 0 0 C11orf1 64776 broad.mit.edu 37 11 111753869 111753869 + Missense_Mutation SNP T T G TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr11:111753869T>G ENST00000260276.3 + 3 623 c.286T>G c.(286-288)Tac>Gac p.Y96D C11orf1_ENST00000530214.1_Intron|C11orf1_ENST00000528125.1_Missense_Mutation_p.Y50D|C11orf1_ENST00000529270.1_Missense_Mutation_p.Y136D NM_022761.2 NP_073598.1 Q9H5F2 CK001_HUMAN chromosome 11 open reading frame 1 96 nucleus p.Y96D(1) kidney(2)|lung(3) 5 all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281) all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06) GTTTGGACACTACTTTGAAAC 0.333000 3 15 0 0 0.004672 0 0 RSPH10B2 728194 broad.mit.edu 37 7 6803562 6803562 + Missense_Mutation SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr7:6803562G>A ENST00000403107.1 + 5 790 c.403G>A c.(403-405)Gac>Aac p.D135N RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000463354.2_3'UTR|RSPH10B2_ENST00000297186.3_Missense_Mutation_p.D135N|RSPH10B2_ENST00000404077.1_Missense_Mutation_p.D135N|RSPH10B2_ENST00000433859.2_Missense_Mutation_p.D135N radial spoke head 10 homolog B2 (Chlamydomonas) p.D135N(2) breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2) 15 GCTTCAGGGCGACTTTGTGAA 0.612000 5 41 0 0 0.001984 0 0 ACP2 53 broad.mit.edu 37 11 47261720 47261720 + Nonsense_Mutation SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr11:47261720G>A ENST00000256997.3 - 11 1335 c.1219C>T c.(1219-1221)Cag>Tag p.Q407* ACP2_ENST00000537863.1_Nonsense_Mutation_p.Q220*|ACP2_ENST00000529444.1_Nonsense_Mutation_p.Q344*|ACP2_ENST00000533929.1_Nonsense_Mutation_p.Q379*|ACP2_ENST00000525230.1_5'UTR|ACP2_ENST00000527256.1_Nonsense_Mutation_p.Q375* NM_001610.2 NP_001601.1 P11117 PPAL_HUMAN acid phosphatase 2, lysosomal 407 integral to membrane|lysosomal lumen|lysosomal membrane acid phosphatase activity p.Q407*(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1) 10 GGCTGGGCCTGCATCCGGAAG 0.642000 29 55 0 0 0.005443 0 0 KEL 3792 broad.mit.edu 37 7 142640391 142640391 + Silent SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr7:142640391G>A ENST00000355265.2 - 16 2217 c.1743C>T c.(1741-1743)caC>caT p.H581H NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 581 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding p.H581H(1) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GCAACAGCTCGTGGGCCATGA 0.557000 7 23 0 0 0.001984 0 0 PLXNA3 55558 broad.mit.edu 37 X 153698805 153698805 + Silent SNP G G C TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chrX:153698805G>C ENST00000369682.3 + 30 5182 c.5007G>C c.(5005-5007)gtG>gtC p.V1669V PLXNA3_ENST00000493546.1_3'UTR NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 1669 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity p.V1669V(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGAAGTTCGTGGATGACCTCT 0.607000 27 52 0 0 0.005443 0 0 SMAD9 4093 broad.mit.edu 37 13 37427571 37427571 + Silent SNP C C T TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr13:37427571C>T ENST00000379826.4 - 6 1587 c.1245G>A c.(1243-1245)cgG>cgA p.R415R SMAD9_ENST00000399275.2_Silent_p.R415R|SMAD9_ENST00000350148.5_Silent_p.R378R NM_001127217.2 NP_001120689.1 O15198 SMAD9_HUMAN SMAD family member 9 415 MH2. BMP signaling pathway|transforming growth factor beta receptor signaling pathway cytosol|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity p.R378R(1)|p.R415R(1) NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8) 18 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) CAAAACTCATCCGGATAGTAC 0.448000 8 31 0 0 0.004482 0 0 BPIFB1 92747 broad.mit.edu 37 20 31890785 31890785 + Missense_Mutation SNP T T C TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr20:31890785T>C ENST00000253354.1 + 11 1206 c.1045T>C c.(1045-1047)Ttt>Ctt p.F349L BPIFB1_ENST00000464032.1_3'UTR NM_033197.2 NP_149974.2 Q8TDL5 LPLC1_HUMAN BPI fold containing family B, member 1 349 extracellular space lipid binding p.F349L(1) TCCCGAGTTTTTTATAGACCA 0.547000 13 61 0 0 0.003163 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240795 39240795 + Missense_Mutation SNP A A T rs9894966 by1000genomes TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr17:39240795A>T ENST00000391417.4 + 1 337 c.337A>T c.(337-339)Agc>Tgc p.S113C NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.R111_C115delRPSCC(1)|p.S113C(1)|p.?(1) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 ctgccgccccagctgctgccg 0.667000 3 9 0 0 0.004672 0 0 STAC 6769 broad.mit.edu 37 3 36484872 36484872 + Missense_Mutation SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr3:36484872G>A ENST00000273183.3 + 2 428 c.128G>A c.(127-129)cGa>cAa p.R43Q STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Missense_Mutation_p.R43Q NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain 43 intracellular signal transduction cytoplasm|soluble fraction metal ion binding p.R43Q(2) endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 AAACTAAAACGATCACTTTCT 0.468000 4 23 0 0 0.000248 0 0 ATP2A2 488 broad.mit.edu 37 12 110783813 110783813 + Missense_Mutation SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr12:110783813G>A ENST00000395494.2 + 18 3231 c.2668G>A c.(2668-2670)Gaa>Aaa p.E890K ATP2A2_ENST00000308664.6_Missense_Mutation_p.E917K|ATP2A2_ENST00000539276.2_Missense_Mutation_p.E917K P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 917 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 p.E917K(1) 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 CAGCTTGTCCGAAAACCAGTC 0.567000 9 52 0 0 0.006214 0 0 RFPL1 5988 broad.mit.edu 37 22 29834951 29834951 + Silent SNP C C T TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr22:29834951C>T ENST00000354373.2 + 1 380 c.171C>T c.(169-171)tgC>tgT p.C57C RFPL1S_ENST00000461286.2_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 57 zinc ion binding p.C57C(1) endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 AGTGTGGATGCGCTGTCTGCT 0.512000 4 101 0 0 0.000248 0 0 NLGN2 57555 broad.mit.edu 37 17 7311965 7311965 + Missense_Mutation SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr17:7311965G>A ENST00000302926.2 + 1 464 c.391G>A c.(391-393)Gcc>Acc p.A131T NLGN2_ENST00000575301.1_Missense_Mutation_p.A131T NM_020795.2 NP_065846.1 Q8NFZ4 NLGN2_HUMAN neuroligin 2 131 cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity p.A131T(1) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3) 22 Prostate(122;0.157) GGAGGCGGCCGCCACCTACGT 0.687000 3 22 0 0 0.004672 0 0 TTC13 79573 broad.mit.edu 37 1 231064840 231064840 + Splice_Site SNP C C T TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr1:231064840C>T ENST00000366661.4 - 12 1308 c.e12-1 TTC13_ENST00000366662.4_Splice_Site|TTC13_ENST00000414259.1_Splice_Site NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 binding p.?(1) central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) CGAGAATACTCTGCAGAAAGG 0.398000 27 46 0 0 0.007291 0 0 MIR101-1 406893 broad.mit.edu 37 1 65524127 65524127 + RNA SNP C C T TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr1:65524127C>T ENST00000362265.1 - 0 64 NR_029516.1 TGCCATCCTTCAGTTATCACA 0.502000 11 52 0 0 0.000978 0 0 CACNA1E 777 broad.mit.edu 37 1 181708389 181708389 + Splice_Site SNP C C A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr1:181708389C>A ENST00000526775.1 + 24 3827 c.3662_splice c.e24+1 p.A1221_splice CACNA1E_ENST00000358338.5_Splice_Site_p.A1172_splice|CACNA1E_ENST00000367567.4_Splice_Site_p.A847_splice|CACNA1E_ENST00000357570.5_Splice_Site_p.A1191_splice|CACNA1E_ENST00000367573.2_Splice_Site_p.A1240_splice|CACNA1E_ENST00000367570.1_Splice_Site_p.A1240_splice|CACNA1E_ENST00000360108.3_Splice_Site_p.A1221_splice NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1240 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.A1240E(2) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TTTGCTCTGGCGTAAGTGACT 0.507000 5 162 4.096e-09 5.66076e-09 0.001168 1 0 LILRA1 11024 broad.mit.edu 37 19 55107879 55107879 + Missense_Mutation SNP A A C TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr19:55107879A>C ENST00000251372.3 + 7 1366 c.1184A>C c.(1183-1185)tAc>tCc p.Y395S LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000418536.2_Intron NM_006863.1 NP_006854.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 395 Ig-like C2-type 4. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity p.Y395S(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TCGGGGACCTACAGGTGCTAC 0.587000 7 248 0 0 0.004482 0 0 HMCN1 83872 broad.mit.edu 37 1 186057109 186057109 + Nonsense_Mutation SNP G G T TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr1:186057109G>T ENST00000271588.4 + 61 9638 c.9409G>T c.(9409-9411)Gga>Tga p.G3137* HMCN1_ENST00000367492.2_Nonsense_Mutation_p.G3137* NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3137 Ig-like C2-type 29. response to stimulus|visual perception basement membrane calcium ion binding p.G3137*(1) NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AAATGTAGCAGGACGGGATGA 0.353000 7 80 8.12818e-05 0.000109864 0.001984 1 0 WASF1 8936 broad.mit.edu 37 6 110424684 110424684 + Missense_Mutation SNP G G C TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr6:110424684G>C ENST00000392589.1 - 9 1626 c.790C>G c.(790-792)Ctg>Gtg p.L264V WASF1_ENST00000359451.2_Missense_Mutation_p.L264V|WASF1_ENST00000392587.2_Missense_Mutation_p.L264V|WASF1_ENST00000392588.1_Missense_Mutation_p.L264V|WASF1_ENST00000392586.1_Missense_Mutation_p.L264V NM_003931.2 NP_003922.1 Q92558 WASF1_HUMAN WAS protein family, member 1 264 actin filament polymerization|cellular component movement actin cytoskeleton actin binding p.L264V(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687) GCTCTAGTCAGAAGCTCACTC 0.443000 5 111 0 0 0.000602 0 0 KCNJ4 3761 broad.mit.edu 37 22 38824042 38824042 + Silent SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr22:38824042G>A ENST00000303592.3 - 2 354 c.96C>T c.(94-96)ttC>ttT p.F32F NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 32 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding p.F32F(1) endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) TCAGGTTGGCGAAGTACACGT 0.627000 63 211 0 0 0.003610 0 0 C14orf166B 145497 broad.mit.edu 37 14 77327095 77327095 + Silent SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr14:77327095G>A ENST00000393774.3 + 11 1288 c.1164G>A c.(1162-1164)ccG>ccA p.P388P NM_194287.2 NP_919263.2 Q0VAA2 CN16B_HUMAN chromosome 14 open reading frame 166B 388 p.P388P(2) breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1) 18 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) CCGTTCACCCGCAGCTGGACG 0.537000 14 67 0 0 0.002450 0 0 PPFIA1 8500 broad.mit.edu 37 11 70172763 70172763 + Missense_Mutation SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr11:70172763G>A ENST00000253925.7 + 7 984 c.769G>A c.(769-771)Gaa>Aaa p.E257K AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.E257K|CTA-797E19.2_ENST00000526017.1_RNA NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 257 cell-matrix adhesion cytoplasm protein binding|signal transducer activity p.E257K(1) breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) TGAGCTCCAAGAAATCATAAG 0.438000 103 259 0 0 0.003610 0 0 NXPE1 120400 broad.mit.edu 37 11 114393191 114393191 + Missense_Mutation SNP G G C TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr11:114393191G>C ENST00000536271.1 - 4 1534 c.291C>G c.(289-291)atC>atG p.I97M NXPE1_ENST00000251921.2_Missense_Mutation_p.I239M|NXPE1_ENST00000424269.1_Missense_Mutation_p.I381M neurexophilin and PC-esterase domain family, member 1 p.I239M(1) GTTTCTTAAAGATTCCAGTTT 0.323000 15 70 0 0 0.002450 0 0 VIL1 7429 broad.mit.edu 37 2 219301247 219301247 + Silent SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr2:219301247G>A ENST00000248444.5 + 16 1957 c.1869G>A c.(1867-1869)gaG>gaA p.E623E VIL1_ENST00000392114.2_Silent_p.E312E NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 623 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity p.E623E(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGCTCTTTGAGTGTTCCAACA 0.507000 89 153 0 0 0.003610 0 0 KCNJ15 3772 broad.mit.edu 37 21 39671440 39671440 + Missense_Mutation SNP A A G TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr21:39671440A>G ENST00000398930.1 + 4 611 c.257A>G c.(256-258)tAt>tGt p.Y86C KCNJ15_ENST00000328656.3_Missense_Mutation_p.Y86C|KCNJ15_ENST00000398938.2_Missense_Mutation_p.Y86C|KCNJ15_ENST00000398932.1_Missense_Mutation_p.Y86C|KCNJ15_ENST00000398934.1_Missense_Mutation_p.Y86C Q99712 IRK15_HUMAN potassium inwardly-rectifying channel, subfamily J, member 15 86 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity p.Y86C(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 GTCATCTACTATGCCATCGCG 0.488000 54 213 0 0 0.003610 0 0 GMEB2 26205 broad.mit.edu 37 20 62234341 62234341 + Missense_Mutation SNP C C T TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr20:62234341C>T ENST00000266068.1 - 3 812 c.334G>A c.(334-336)Ggc>Agc p.G112S GMEB2_ENST00000370069.1_Missense_Mutation_p.G61S|GMEB2_ENST00000370077.1_Missense_Mutation_p.G112S Q9UKD1 GMEB2_HUMAN glucocorticoid modulatory element binding protein 2 112 SAND. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|metal ion binding p.G112S(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 18 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114) ACATTGATGCCGGGACACACA 0.557000 15 119 0 0 0.004007 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811410 5811410 + Nonsense_Mutation SNP C C T TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chrX:5811410C>T ENST00000381095.3 - 6 2526 c.1899G>A c.(1897-1899)tgG>tgA p.W633* NLGN4X_ENST00000538097.1_Nonsense_Mutation_p.W633*|NLGN4X_ENST00000381092.1_Nonsense_Mutation_p.W633*|NLGN4X_ENST00000275857.6_Nonsense_Mutation_p.W633*|NLGN4X_ENST00000381093.2_Nonsense_Mutation_p.W653* NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 633 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity p.W633*(1) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 TGGTGGTTGGCCATATCTTGG 0.498000 37 1218 0 0 0.003954 0 0 SPTA1 6708 broad.mit.edu 37 1 158631093 158631093 + Missense_Mutation SNP G G T TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr1:158631093G>T ENST00000368148.3 - 18 2751 c.2571C>A c.(2569-2571)aaC>aaA p.N857K SPTA1_ENST00000368147.3_Missense_Mutation_p.N857K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 857 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.N857K(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTACCATTTTGTTTCCCCTTT 0.433000 83 131 1.59627e-33 2.28304e-33 0.003610 1 0 PORCN 64840 broad.mit.edu 37 X 48368171 48368171 + Splice_Site SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chrX:48368171G>A ENST00000359882.4 + 2 142 c.e2-1 PORCN_ENST00000355092.3_Intron|PORCN_ENST00000355961.4_Splice_Site|PORCN_ENST00000537758.1_Splice_Site|PORCN_ENST00000361988.3_Splice_Site|PORCN_ENST00000326194.6_5'UTR|PORCN_ENST00000367574.4_5'UTR|PORCN_ENST00000486272.1_Intron Q9H237 PORCN_HUMAN porcupine homolog (Drosophila) Wnt receptor signaling pathway endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TGCTTTGACAGATCTATCCAT 0.577000 3 21 0 0 0.004672 0 0 PDXDC1 23042 broad.mit.edu 37 16 15102638 15102638 + Silent SNP C C T TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr16:15102638C>T ENST00000396410.4 + 7 679 c.582C>T c.(580-582)ctC>ctT p.L194L PDXDC1_ENST00000563679.1_Silent_p.L212L|PDXDC1_ENST00000325823.7_Silent_p.L179L|PDXDC1_ENST00000569715.1_Silent_p.L167L|PDXDC1_ENST00000455313.2_Intron|PDXDC1_ENST00000450288.2_Silent_p.L166L|PDXDC1_ENST00000535621.2_Silent_p.L194L|PDXDC1_ENST00000447912.2_Silent_p.L103L NM_015027.2 NP_055842.2 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain containing 1 194 carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding p.L194L(1) central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) TCCTGCAGCTCGGCTTGCCCT 0.458000 6 351 0 0 0.001984 0 0 ADCY3 109 broad.mit.edu 37 2 25057771 25057771 + Missense_Mutation SNP C C T TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr2:25057771C>T ENST00000260600.5 - 9 2548 c.1697G>A c.(1696-1698)aGg>aAg p.R566K ADCY3_ENST00000405392.1_Missense_Mutation_p.R199K NM_004036.3 NP_004027.2 O60266 ADCY3_HUMAN adenylate cyclase 3 566 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding p.R566K(1) NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) CAGGCGCAGCCTCCGGCGTGG 0.642000 9 30 0 0 0.004482 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144874795 144874795 + Missense_Mutation SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr1:144874795G>A ENST00000369359.4 - 33 5259 c.5221C>T c.(5221-5223)Cgc>Tgc p.R1741C PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R1605C|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R1605C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R1561C|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1741C Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1605 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding p.R1605C(2) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CTGGGAGAGCGGTGGGAGTCA 0.547000 T PDGFRB MPD 66 252 0 0 0.003610 0 0 DAW1 164781 broad.mit.edu 37 2 228762983 228762983 + Missense_Mutation SNP C C T TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr2:228762983C>T ENST00000373666.2 + 6 1162 c.526C>T c.(526-528)Cat>Tat p.H176Y DAW1_ENST00000545118.1_Missense_Mutation_p.H161Y|DAW1_ENST00000309931.2_Missense_Mutation_p.H176Y dynein assembly factor with WDR repeat domains 1 p.H176Y(1) CTTCAGGGGTCATACAGCAGA 0.333000 10 54 0 0 0.008291 0 0 C20orf195 79025 broad.mit.edu 37 20 62187706 62187706 + Silent SNP C C T TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr20:62187706C>T ENST00000370098.3 + 2 782 c.690C>T c.(688-690)gtC>gtT p.V230V C20orf195_ENST00000370097.1_Silent_p.V230V NM_024059.2 NP_076964.1 Q9BVV2 CT195_HUMAN chromosome 20 open reading frame 195 230 p.V230V(1) large_intestine(3)|lung(4) 7 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) GCTGGTTCGTCACCATCCAGC 0.647000 39 125 0 0 0.006999 0 0 BRIP1 83990 broad.mit.edu 37 17 59857699 59857699 + Missense_Mutation SNP T T C TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr17:59857699T>C ENST00000259008.2 - 13 2125 c.1858A>G c.(1858-1860)Atg>Gtg p.M620V BRIP1_ENST00000577598.1_Missense_Mutation_p.M620V NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 620 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding p.M620V(2) NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 AAGGATTTCATTGGTGATAAT 0.303000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 4 211 0 0 0.000248 0 0 TPR 7175 broad.mit.edu 37 1 186324846 186324846 + Missense_Mutation SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr1:186324846G>A ENST00000367478.3 - 16 2239 c.1943C>T c.(1942-1944)tCa>tTa p.S648L TPR_ENST00000474852.1_5'UTR NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 648 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity p.S648L(1)|p.S649L(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) AACAGTCTGTGATGTACTTGG 0.408000 T NTRK1 papillary thyroid 30 70 0 0 0.008361 0 0 EIF2S3 1968 broad.mit.edu 37 X 24094881 24094881 + Missense_Mutation SNP G G T TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chrX:24094881G>T ENST00000253039.4 + 12 1651 c.1398G>T c.(1396-1398)aaG>aaT p.K466N RP11-479I1.4_ENST00000457332.1_RNA NM_001415.3 NP_001406.1 P41091 IF2G_HUMAN eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa 466 cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity p.K466N(1) breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1) 12 TGACAATCAAGCCAACAGTAG 0.343000 54 1270 4.67007e-22 6.60251e-22 0.008740 1 0 PLCB1 23236 broad.mit.edu 37 20 8782791 8782791 + Missense_Mutation SNP T T C TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr20:8782791T>C ENST00000378641.3 + 32 3987 c.3512T>C c.(3511-3513)cTc>cCc p.L1171P PLCB1_ENST00000378637.2_Missense_Mutation_p.L1171P|PLCB1_ENST00000338037.6_Intron NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 0 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity p.L1171P(1) NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 CCTCAAGCTCTCAAGTGGTGA 0.552000 9 46 0 0 0.004482 0 0 EPB41L1 2036 broad.mit.edu 37 20 34797690 34797690 + Missense_Mutation SNP C C T TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr20:34797690C>T ENST00000338074.2 + 15 2110 c.1949C>T c.(1948-1950)tCg>tTg p.S650L EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373941.1_Missense_Mutation_p.S650L|EPB41L1_ENST00000373950.2_Missense_Mutation_p.S541L|EPB41L1_ENST00000441639.1_Missense_Mutation_p.S576L|EPB41L1_ENST00000202028.5_Missense_Mutation_p.S576L NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 650 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity p.S650L(1)|p.S939L(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) AAAAGCGACTCGGACACTGAG 0.632000 9 29 0 0 0.004482 0 0 USH2A 7399 broad.mit.edu 37 1 215963479 215963479 + Silent SNP C C T TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr1:215963479C>T ENST00000366943.2 - 51 10490 c.10104G>A c.(10102-10104)caG>caA p.Q3368Q USH2A_ENST00000307340.3_Silent_p.Q3368Q O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3368 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.Q3368Q(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TACAGCATTTCTGGCTCTTTG 0.388000 HNSCC(13;0.011) 20 70 0 0 0.002780 0 0 SP7 121340 broad.mit.edu 37 12 53723126 53723126 + Missense_Mutation SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr12:53723126G>A ENST00000536324.2 - 3 383 c.100C>T c.(100-102)Cgg>Tgg p.R34W SP7_ENST00000303846.3_Missense_Mutation_p.R34W|SP7_ENST00000537210.2_Missense_Mutation_p.R16W NM_001173467.1 NP_001166938.1 Q8TDD2 SP7_HUMAN Sp7 transcription factor 34 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R34W(1) cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 14 GTTGAGTCCCGCAGAGGGCTA 0.577000 4 83 0 0 0.000248 0 0 BTN2A1 11120 broad.mit.edu 37 6 26466290 26466290 + Splice_Site SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr6:26466290G>A ENST00000429381.1 + 7 1168 c.955_splice c.e7-1 p.R319_splice BTN2A1_ENST00000312541.5_Splice_Site_p.R319_splice|BTN2A1_ENST00000469185.1_Splice_Site_p.R319_splice|BTN2A1_ENST00000541522.1_Splice_Site_p.R258_splice Q7KYR7 BT2A1_HUMAN butyrophilin, subfamily 2, member A1 319 B30.2/SPRY. lipid metabolic process integral to plasma membrane p.R305Q(1)|p.R319Q(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3) 27 TCCCTTGCAGGATGGAGAAGA 0.448000 24 160 0 0 0.003330 0 0 COL6A3 1293 broad.mit.edu 37 2 238280361 238280361 + Silent SNP C C T TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr2:238280361C>T ENST00000392004.3 - 8 3935 c.3681G>A c.(3679-3681)gcG>gcA p.A1227A COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000295550.4_Intron|COL6A3_ENST00000392003.2_Silent_p.A1026A|COL6A3_ENST00000353578.4_Intron NM_057165.4 NP_476506.3 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1434 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity p.A1227A(1) breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GAACCTCCGACGCCCCCATCT 0.473000 28 66 0 0 0.007291 0 0 ZNF483 158399 broad.mit.edu 37 9 114293154 114293154 + Splice_Site SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr9:114293154G>A ENST00000309235.5 + 3 570 c.e3-1 ZNF483_ENST00000358151.4_Splice_Site|ZNF483_ENST00000355824.3_Splice_Site NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.?(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5) 31 CCCTTTCCTAGATCCAGTCTC 0.333000 15 88 0 0 0.003163 0 0 HLA-A 3105 broad.mit.edu 37 6 29911194 29911194 + Nonsense_Mutation SNP C C T rs41541518 TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr6:29911194C>T ENST00000396634.1 + 5 834 c.493C>T c.(493-495)Cag>Tag p.Q165* HLA-A_ENST00000376802.2_Nonsense_Mutation_p.Q165*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.Q165*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.Q165* P30443 1A01_HUMAN major histocompatibility complex, class I, A 165 Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.Q165*(1) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 CATGGCGGCTCAGATCACCAA 0.652000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 9 28 0 0 0.004482 0 0 XRN1 54464 broad.mit.edu 37 3 142133085 142133085 + Silent SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr3:142133085G>A ENST00000264951.4 - 14 1602 c.1485C>T c.(1483-1485)atC>atT p.I495I XRN1_ENST00000392981.2_Silent_p.I495I NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 495 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding p.I495I(1) NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 TGAGTGTACTGATGTTGTGTA 0.343000 16 79 0 0 0.004990 0 0 PMP22 5376 broad.mit.edu 37 17 15142888 15142888 + Missense_Mutation SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr17:15142888G>A ENST00000494511.1 - 2 206 c.40C>T c.(40-42)Cat>Tat p.H14Y PMP22_ENST00000426385.3_Silent_p.I73I|PMP22_ENST00000395936.1_Silent_p.I73I|PMP22_ENST00000395938.2_Silent_p.I73I|PMP22_ENST00000312280.3_Silent_p.I73I Q01453 PMP22_HUMAN peripheral myelin protein 22 0 peripheral nervous system development|synaptic transmission integral to membrane p.I73I(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 8 UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06) TGCTGAAGATGATCGACAGGA 0.542000 11 43 0 0 0.008291 0 0 LRP1 4035 broad.mit.edu 37 12 57539234 57539234 + Missense_Mutation SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr12:57539234G>A ENST00000243077.3 + 6 1268 c.802G>A c.(802-804)Gtg>Atg p.V268M LRP1_ENST00000554174.1_Missense_Mutation_p.V268M|LRP1_ENST00000553277.1_Missense_Mutation_p.V268M|RP11-545N8.3_ENST00000555461.1_RNA|LRP1_ENST00000338962.4_Missense_Mutation_p.V268M NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 268 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity p.V268M(1) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) AAAGGGCTTCGTGGATGAGCA 0.597000 9 110 0 0 0.006214 0 0 KLHL4 56062 broad.mit.edu 37 X 86924389 86924389 + Missense_Mutation SNP C C A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chrX:86924389C>A ENST00000373114.4 + 11 2238 c.2158C>A c.(2158-2160)Cac>Aac p.H720N KLHL4_ENST00000373119.4_3'UTR NM_057162.2 NP_476503.1 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 0 cytoplasm|microtubule cytoskeleton|nucleolus actin binding p.H720N(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 GACTCTGGGGCACTAAATTCA 0.428000 3 34 1.23904e-05 1.69335e-05 0.000602 1 0 C2orf71 388939 broad.mit.edu 37 2 29296770 29296770 + Missense_Mutation SNP C C G rs140625913 by1000genomes TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr2:29296770C>G ENST00000331664.5 - 1 357 c.358G>C c.(358-360)Ggt>Cgt p.G120R NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 120 response to stimulus|visual perception photoreceptor outer segment p.G120R(1) NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CCATGGGAACCCTGTGTCTTG 0.453000 57 125 0 0 0.003610 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145773476 145773476 + Missense_Mutation SNP C C T TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr8:145773476C>T ENST00000276826.5 - 4 1195 c.994G>A c.(994-996)Gtg>Atg p.V332M ARHGAP39_ENST00000377307.2_Missense_Mutation_p.V332M|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.V332M Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 332 Pro-rich. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity p.V332M(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 TCGAATTGCACGTCCATGGGG 0.706000 17 20 0 0 0.004990 0 0 TRIL 9865 broad.mit.edu 37 7 28996325 28996325 + RNA SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr7:28996325G>A ENST00000322982.3 - 0 1609 Q7L0X0 TRIL_HUMAN TLR4 interactor with leucine-rich repeats inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway lipopolysaccharide receptor complex lipopolysaccharide binding GCTCCTCCGCGAGACCTGCAG 0.721000 5 24 0 0 0.000602 0 0 GNL1 2794 broad.mit.edu 37 6 30522939 30522939 + Missense_Mutation SNP C C T TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr6:30522939C>T ENST00000376621.3 - 3 1239 c.269G>A c.(268-270)aGg>aAg p.R90K NM_005275.3 NP_005266.2 P36915 GNL1_HUMAN guanine nucleotide binding protein-like 1 90 response to DNA damage stimulus|signal transduction|T cell mediated immunity extracellular space|intracellular GTP binding|structural molecule activity p.R90K(1) cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 TACCTCCTCCCTGCTGTCTCT 0.537000 45 198 0 0 0.002222 0 0 NASP 4678 broad.mit.edu 37 1 46083204 46083204 + Missense_Mutation SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr1:46083204G>A ENST00000350030.3 + 14 2314 c.2227G>A c.(2227-2229)Gga>Aga p.G743R NASP_ENST00000351223.3_Missense_Mutation_p.G404R|NASP_ENST00000530073.1_3'UTR|NASP_ENST00000372052.4_Missense_Mutation_p.G377R|NASP_ENST00000537798.1_Missense_Mutation_p.G679R|NASP_ENST00000402363.3_Missense_Mutation_p.G745R NM_002482.3 NP_002473.2 P49321 NASP_HUMAN nuclear autoantigenic sperm protein (histone-binding) 743 blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport cytoplasm|nucleus Hsp90 protein binding p.G745R(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 17 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211) GGAGGTGAACGGAGGCAGTGG 0.493000 3 57 0 0 0.004672 0 0 ADAMTS1 9510 broad.mit.edu 37 21 28212371 28212371 + Missense_Mutation SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr21:28212371G>A ENST00000284984.2 - 6 2129 c.1675C>T c.(1675-1677)Cat>Tat p.H559Y NM_006988.3 NP_008919.3 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 1 559 Disintegrin.|TSP type-1 1. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding p.H559N(2)|p.H559Y(1) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 42 Breast(209;0.000962) Lung(58;0.215) CAGCTTCCATGAAAAGGCGTC 0.463000 4 116 0 0 0.001168 0 0 SF1 7536 broad.mit.edu 37 11 64533557 64533557 + Silent SNP G G C TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr11:64533557G>C ENST00000377390.3 - 13 1990 c.1653C>G c.(1651-1653)gcC>gcG p.A551A SF1_ENST00000334944.5_Silent_p.A551A|SF1_ENST00000433274.2_Silent_p.A525A|SF1_ENST00000377394.3_Intron|SF1_ENST00000227503.9_Intron|SF1_ENST00000422298.2_Intron|SF1_ENST00000377387.1_Intron NM_004630.3 NP_004621.2 Q15637 SF01_HUMAN splicing factor 1 551 Pro-rich. nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding p.A551A(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 31 GAGAAGCTGCGGCAGCCGCCT 0.682000 15 30 0 0 0.004990 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240794 39240794 + Silent SNP C C A rs9894106 TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr17:39240794C>A ENST00000391417.4 + 1 336 c.336C>A c.(334-336)ccC>ccA p.P112P NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.R111_C115delRPSCC(1)|p.P112P(1)|p.?(1) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 gctgccgccccagctgctgcc 0.667000 3 9 0.004672 0.00604901 0.004672 1 0 WNT16 51384 broad.mit.edu 37 7 120969620 120969620 + Splice_Site SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr7:120969620G>A ENST00000222462.2 + 2 385 c.e2-1 WNT16_ENST00000361301.2_Splice_Site NM_057168.1 NP_476509.1 Q9UBV4 WNT16_HUMAN wingless-type MMTV integration site family, member 16 anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity p.?(2) breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1) 18 all_neural(327;0.117) GTGTCTTACAGGTGGTTGGGC 0.582000 12 94 0 0 0.003163 0 0 TRIML2 205860 broad.mit.edu 37 4 189012797 189012797 + Silent SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr4:189012797G>A ENST00000512729.1 - 7 1268 c.894C>T c.(892-894)acC>acT p.T298T TRIML2_ENST00000326754.3_Silent_p.T323T NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 298 B30.2/SPRY. ligase activity p.T298T(1) central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) GAGTCCACTCGGTCCCCATCA 0.577000 35 166 0 0 0.003755 0 0 RASEF 158158 broad.mit.edu 37 9 85597694 85597694 + Silent SNP T T C TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr9:85597694T>C ENST00000376447.3 - 17 2381 c.2121A>G c.(2119-2121)gaA>gaG p.E707E NM_152573.2 NP_689786.2 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 707 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding p.E707E(1) NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 TCTTTTTCACTTCTCTgagac 0.418000 3 78 0 0 0.004672 0 0 ANKMY2 57037 broad.mit.edu 37 7 16640525 16640525 + Missense_Mutation SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr7:16640525G>A ENST00000306999.2 - 10 1430 c.1187C>T c.(1186-1188)cCa>cTa p.P396L NM_020319.2 NP_064715.1 Q8IV38 ANKY2_HUMAN ankyrin repeat and MYND domain containing 2 396 cilium zinc ion binding p.P396L(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 23 Lung NSC(10;0.103)|all_lung(11;0.204) UCEC - Uterine corpus endometrioid carcinoma (126;0.195) TTCAGCCTCTGGTTGCTCTTC 0.398000 4 68 0 0 0.000248 0 0 GPR174 84636 broad.mit.edu 37 X 78427197 78427197 + Missense_Mutation SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chrX:78427197G>A ENST00000276077.1 + 1 729 c.693G>A c.(691-693)atG>atA p.M231I NM_032553.1 NP_115942.1 Q9BXC1 GP174_HUMAN G protein-coupled receptor 174 231 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.M231I(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 38 CCTTGAAGATGATTCTAACCT 0.393000 HNSCC(63;0.18) 41 57 0 0 0.007835 0 0 OR51A7 119687 broad.mit.edu 37 11 4929375 4929375 + Missense_Mutation SNP C C G TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr11:4929375C>G ENST00000359350.4 + 1 776 c.776C>G c.(775-777)gCc>gGc p.A259G MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004749.1 NP_001004749.1 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, member 7 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A259G(1) breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) ACCCTGGCTGCCATGCATCAC 0.493000 79 221 0 0 0.003610 0 0 SLC46A2 57864 broad.mit.edu 37 9 115651960 115651960 + Silent SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr9:115651960G>A ENST00000374228.4 - 1 1233 c.1002C>T c.(1000-1002)agC>agT p.S334S NM_033051.3 NP_149040.3 Q9BY10 TSCOT_HUMAN solute carrier family 46, member 2 334 integral to membrane|plasma membrane symporter activity p.S334S(1) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1) 18 CACCCAGGAAGCTGGTGATGA 0.557000 42 19 0 0 0.002222 0 0 FAM90A1 55138 broad.mit.edu 37 12 8376143 8376143 + Missense_Mutation SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr12:8376143G>A ENST00000538603.1 - 6 892 c.334C>T c.(334-336)Ccg>Tcg p.P112S FAM90A1_ENST00000307435.6_Missense_Mutation_p.P112S NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 112 nucleic acid binding|zinc ion binding p.P112S(1) endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) TTCCTCTGCGGGTCTTGTGGC 0.547000 14 46 0 0 0.004990 0 0 HAO1 54363 broad.mit.edu 37 20 7866404 7866404 + Silent SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr20:7866404G>A ENST00000378789.3 - 6 972 c.921C>T c.(919-921)ggC>ggT p.G307G NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 307 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity p.G307G(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CAGCCTTGGCGCCAAGAGCCA 0.483000 14 70 0 0 0.002450 0 0 RANBP17 64901 broad.mit.edu 37 5 170610377 170610377 + Missense_Mutation SNP T T G TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr5:170610377T>G ENST00000523189.1 + 18 2145 c.1981T>G c.(1981-1983)Ttc>Gtc p.F661V RANBP17_ENST00000521759.1_3'UTR NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 661 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity p.F661V(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TCTCAGCGACTTCAGGTGTCG 0.403000 T TRD@ ALL 29 70 0 0 0.008361 0 0 FAM46B 115572 broad.mit.edu 37 1 27332767 27332767 + Silent SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr1:27332767G>A ENST00000289166.5 - 2 1111 c.946C>T c.(946-948)Ctg>Ttg p.L316L NM_052943.3 NP_443175.2 Q96A09 FA46B_HUMAN family with sequence similarity 46, member B 316 p.L315L(1) breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419) TGCTCCACCAGGTCTGGAAAG 0.687000 3 32 0 0 0.004672 0 0 DNAH8 1769 broad.mit.edu 37 6 38840727 38840727 + Nonsense_Mutation SNP G G A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr6:38840727G>A ENST00000359357.3 + 49 6886 c.6632G>A c.(6631-6633)tGg>tAg p.W2211* DNAH8_ENST00000449981.2_Nonsense_Mutation_p.W2428*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.W2175* dynein, axonemal, heavy chain 8 p.W2211*(2) NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GATGCCATCTGGATTGAGAAC 0.358000 35 77 0 0 0.002836 0 0 CPM 1368 broad.mit.edu 37 12 69260803 69260803 + Missense_Mutation SNP G G C TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr12:69260803G>C ENST00000551568.1 - 7 873 c.813C>G c.(811-813)atC>atG p.I271M CPM_ENST00000546373.1_Missense_Mutation_p.I271M|CPM_ENST00000338356.3_Missense_Mutation_p.I271M NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 271 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding p.I271M(1) large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) ACTGGGCCCAGATGTAGTTGT 0.408000 14 805 0 0 0.004007 0 0 DPY19L2 283417 broad.mit.edu 37 12 63963073 63963073 + Missense_Mutation SNP C C A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr12:63963073C>A ENST00000324472.4 - 21 2240 c.2057G>T c.(2056-2058)aGa>aTa p.R686I DPY19L2_ENST00000413230.2_Missense_Mutation_p.R133I NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 686 multicellular organismal development|spermatid development integral to membrane p.R686I(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) CAATTTATCTCTTACTTCTTT 0.289000 29 303 3.76114e-14 5.25704e-14 0.004289 1 0 USH2A 7399 broad.mit.edu 37 1 215963477 215963477 + Missense_Mutation SNP T T A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr1:215963477T>A ENST00000366943.2 - 51 10492 c.10106A>T c.(10105-10107)aAa>aTa p.K3369I USH2A_ENST00000307340.3_Missense_Mutation_p.K3369I O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3369 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.K3369I(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATTACAGCATTTCTGGCTCTT 0.393000 HNSCC(13;0.011) 18 71 0 0 0.001882 0 0 NSUN2 54888 broad.mit.edu 37 5 6632745 6632745 + Missense_Mutation SNP A A C TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr5:6632745A>C ENST00000264670.6 - 2 532 c.221T>G c.(220-222)cTc>cGc p.L74R NSUN2_ENST00000506139.1_Missense_Mutation_p.L74R|NSUN2_ENST00000539938.1_5'UTR NM_017755.5 NP_060225.4 Q08J23 NSUN2_HUMAN NOP2/Sun RNA methyltransferase family, member 2 74 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding p.L74R(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41 AGTGGCCGGGAGCGGCTCCCT 0.557000 4 133 0 0 0.000248 0 0 PRDM7 11105 broad.mit.edu 37 16 90128579 90128579 + Missense_Mutation SNP A A G TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr16:90128579A>G ENST00000407825.1 - 7 651 c.14T>C c.(13-15)tTc>tCc p.F5S PRDM7_ENST00000325921.6_Missense_Mutation_p.F5S|PRDM7_ENST00000449207.2_Missense_Mutation_p.F211S Q9NQW5 PRDM7_HUMAN PR domain containing 7 211 chromosome|nucleus nucleic acid binding p.F211S(1)|p.F5S(1) lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) GTCAATGAAGAAGTTCTGACA 0.507000 13 38 0 0 0.003163 0 0 LINC00518 221718 broad.mit.edu 37 6 10430699 10430700 + RNA DEL TT TT - rs79230388 TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr6:10430699_10430700delTT ENST00000496285.1 - 0 489 NR_027793.1 CTCTGACTAGtttttttttttt 0.450 2 4 --- --- --- --- MET 4233 broad.mit.edu 37 7 116412042 116412045 + Splice_Site DEL AGGT AGGT - TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr7:116412042_116412045delAGGT ENST00000397752.3 + 14 3227_3228 c.3028_splice c.e14+1 p.E1009_splice MET_ENST00000318493.6_Splice_Site_p.E1027_splice NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 1009 Breakpoint for translocation to form TPR- MET oncogene. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding p.?(5)|p.982_1028del47(4)|p.L982_D1028del(3)|p.D981_D1028del(1) NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CTTTTCCAGAAGGTATATTTCAGT 0.343 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 13 34 --- --- --- --- FAM66D 100132923 broad.mit.edu 37 8 11994579 11994580 + RNA DEL TG TG - TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr8:11994579_11994580delTG ENST00000434078.2 + 0 608 NR_027425.1 TGTTCgtgtttgtgtgtgtgtg 0.505 7 51 --- --- --- --- XPOT 11260 broad.mit.edu 37 12 64812755 64812755 + Frame_Shift_Del DEL T T - TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr12:64812755delT ENST00000332707.5 + 6 899 c.370delT c.(370-372)ttfs p.F126fs NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 126 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding p.F126fs*6(1) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) GTGGCCCAAGTTTTTTTTTGA 0.443 7 478 --- --- --- --- AE000661.37 0 broad.mit.edu 37 14 22933391 22933391 + RNA DEL C C - rs36090939 TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr14:22933391delC ENST00000514473.2 - 0 225 TRDC_ENST00000390477.2_RNA|AE000661.37_ENST00000556777.1_RNA TTAGAAATGGCTAAGAAACCA 0.408 5 3 --- --- --- --- SPAG9 9043 broad.mit.edu 37 17 49077041 49077041 + Frame_Shift_Del DEL T T - TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr17:49077041delT ENST00000262013.7 - 14 1853 c.1645delA c.(1645-1647)ggfs p.R549fs SPAG9_ENST00000505279.1_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000510283.1_Frame_Shift_Del_p.R392fs|SPAG9_ENST00000357122.4_Frame_Shift_Del_p.R535fs NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 549 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm p.R535fs*28(1) NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) ATGCTTGACCTTTTTTTTTCC 0.323 7 80 --- --- --- --- CTC-513N18.6 0 broad.mit.edu 37 19 20634038 20634039 + RNA DEL TG TG - TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr19:20634038_20634039delTG ENST00000598131.1 + 0 160 TTAGTAAAAATGTGTGTGTGTG 0.401 13 126 --- --- --- --- CEP89 84902 broad.mit.edu 37 19 33406382 33406382 + Frame_Shift_Del DEL T T - rs145281633 TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr19:33406382delT ENST00000305768.4 - 14 1514 c.1426delA c.(1426-1428)ccfs p.T476fs NM_032816.3 NP_116205.3 Q96ST8 CEP89_HUMAN centrosomal protein 89kDa 476 centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 TGGCCGTGGGTTTTTGCCTCC 0.443 7 424 --- --- --- --- WDR62 284403 broad.mit.edu 37 19 36583666 36583668 + In_Frame_Del DEL GCA GCA - TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr19:36583666_36583668delGCA ENST00000401500.2 + 19 2321_2323 c.2286_2288delGCA c.(2284-2289)cgg>cg p.RQ762del WDR62_ENST00000270301.7_In_Frame_Del_p.RQ762del NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 762 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TTGACCACCGGCAGCAGCAGCAG 0.616 9 647 --- --- --- --- LYPD3 27076 broad.mit.edu 37 19 43969653 43969655 + In_Frame_Del DEL AGC AGC - rs141441894 byFrequency TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr19:43969653_43969655delAGC ENST00000244333.3 - 1 157_159 c.69_71delGCT c.(67-72)ctt>ct p.LL23del NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 23 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) ACCTCCGCGAAGCAGCAGCAGCA 0.675 9 244 --- --- --- --- AC008103.5 0 broad.mit.edu 37 22 18842473 18842473 + RNA DEL G G - rs66618606 TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0aeed5-93a1-4287-8a88-fe6b7b5e3983 32788069-6806-4112-afe3-28e731a6d8db g.chr22:18842473delG ENST00000412938.1 + 0 2208 AGCTGCTGGTGGGGAGGTCTT 0.647 4 8 --- --- --- ---