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 CDK5R1 8851 broad.mit.edu 37 17 30815064 30815064 + Silent SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr17:30815064C>T ENST00000313401.3 + 2 1115 c.426C>T c.(424-426)gtC>gtT p.V142V NM_003885.2 NP_003876.1 Q15078 CD5R1_HUMAN cyclin-dependent kinase 5, regulatory subunit 1 (p35) 142 axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane cadherin binding|calcium ion binding|protein kinase binding cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1) 8 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.0938) CCAAACGGGTCATCGTCCAGG 0.687000 15 86 0 0 1 0 0 IL13RA2 3598 broad.mit.edu 37 X 114251809 114251809 + Silent SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chrX:114251809G>A ENST00000371936.1 - 3 273 c.24C>T c.(22-24)atC>atT p.I8I IL13RA2_ENST00000468224.1_5'UTR|IL13RA2_ENST00000243213.1_Silent_p.I8I Q14627 I13R2_HUMAN interleukin 13 receptor, alpha 2 8 I -> V (in Ref. 4; BAF84646). extracellular space|integral to membrane|soluble fraction cytokine receptor activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 23 ATAAGCATCCGATAGCCAAGC 0.323000 5 104 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 37061005 37061005 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr5:37061005G>A ENST00000282516.8 + 45 8244 c.7745G>A c.(7744-7746)cGa>cAa p.R2582Q NIPBL_ENST00000448238.2_Missense_Mutation_p.R2582Q NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2582 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GCGATAAACCGAAAAACAGGA 0.353000 5 49 0 0 1 0 0 HIST1H2AB 8335 broad.mit.edu 37 6 26033433 26033433 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr6:26033433C>G ENST00000259791.2 - 1 363 c.364G>C c.(364-366)Gag>Cag p.E122Q NM_003513.2 NP_003504.2 P04908 H2A1B_HUMAN histone cluster 1, H2ab 122 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 TGATGGCTCTCAGTTTTCTTA 0.488000 10 80 0 0 1 0 0 MSGN1 343930 broad.mit.edu 37 2 17997819 17997819 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:17997819G>A ENST00000281047.3 + 1 57 c.34G>A c.(34-36)Gag>Aag p.E12K NM_001105569.1 NP_001099039.1 A6NI15 MSGN1_HUMAN mesogenin 1 12 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CCTCAGCCTCGAGGATGGCTT 0.607000 5 46 0 0 1 0 0 MSH2 4436 broad.mit.edu 37 2 47637291 47637291 + Missense_Mutation SNP C C T rs63750910 TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:47637291C>T ENST00000406134.1 + 3 487 c.425C>T c.(424-426)tCa>tTa p.S142L MSH2_ENST00000233146.2_Missense_Mutation_p.S142L|MSH2_ENST00000543555.1_Missense_Mutation_p.S76L P43246 MSH2_HUMAN mutS homolog 2 142 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.0?(2)|p.?(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) aatgatatgTCAGCTTCCATT 0.388000 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 55 374 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9065474 9065474 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr19:9065474C>T ENST00000397910.4 - 3 22175 c.21972G>A c.(21970-21972)atG>atA p.M7324I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7326 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCTTGATGGTCATTTCTGATG 0.443000 9 66 0 0 1 0 0 CYP2W1 54905 broad.mit.edu 37 7 1028135 1028135 + Silent SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr7:1028135C>T ENST00000340150.6 + 8 1220 c.1198C>T c.(1198-1200)Ctg>Ttg p.L400L CYP2W1_ENST00000308919.7_Intron Q8TAV3 CP2W1_HUMAN cytochrome P450, family 2, subfamily W, polypeptide 1 0 xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen breast(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) CCTGCCGCCTCTGCACCCACC 0.716000 4 13 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56438649 56438649 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr6:56438649G>C ENST00000370754.5 - 51 12970 c.12971C>G c.(12970-12972)tCt>tGt p.S4324C DST_ENST00000312431.6_Missense_Mutation_p.S4144C|DST_ENST00000446842.2_Missense_Mutation_p.S3820C|DST_ENST00000244364.6_Missense_Mutation_p.S1732C|DST_ENST00000370769.4_Missense_Mutation_p.S4146C|DST_ENST00000370788.2_Missense_Mutation_p.S2058C|DST_ENST00000421834.2_Missense_Mutation_p.S2058C|DST_ENST00000361203.3_Missense_Mutation_p.S4144C Q03001 DYST_HUMAN dystonin 4144 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTCATTAACAGACTTGGACAG 0.418000 10 39 0 0 1 0 0 MYO1C 4641 broad.mit.edu 37 17 1386278 1386278 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr17:1386278C>G ENST00000359786.5 - 4 747 c.423G>C c.(421-423)gaG>gaC p.E141D MYO1C_ENST00000575158.1_Missense_Mutation_p.E106D|MYO1C_ENST00000361007.2_Missense_Mutation_p.E106D|MYO1C_ENST00000545534.2_Missense_Mutation_p.E117D|MYO1C_ENST00000438665.2_Missense_Mutation_p.E122D NM_001080779.1 NP_001074248.1 O00159 MYO1C_HUMAN myosin IC 141 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CTGCCCCGCTCTCCCCAGAGA 0.687000 6 32 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 11 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130883689 130883689 + Missense_Mutation SNP G G T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr12:130883689G>T ENST00000261655.4 - 19 3313 c.3150C>A c.(3148-3150)ttC>ttA p.F1050L NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 1050 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) ATTAAGGTGTGAAATGAACAC 0.343000 9 77 0.000442599 0.000450834 1 1 0 SPTLC1 10558 broad.mit.edu 37 9 94830360 94830360 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr9:94830360C>G ENST00000262554.2 - 6 453 c.448G>C c.(448-450)Gac>Cac p.D150H SPTLC1_ENST00000482632.1_5'UTR NM_006415.2 NP_006406.1 O15269 SPTC1_HUMAN serine palmitoyltransferase, long chain base subunit 1 150 integral to membrane|SPOTS complex protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 14 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) GCCAGGCGGTCTTCCAAATCC 0.338000 3 21 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108384223 108384223 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr11:108384223C>T ENST00000265843.4 - 6 2121 c.2011G>A c.(2011-2013)Gaa>Aaa p.E671K EXPH5_ENST00000428840.1_Missense_Mutation_p.E595K|EXPH5_ENST00000443411.1_Missense_Mutation_p.E483K|EXPH5_ENST00000525344.1_Missense_Mutation_p.E664K|EXPH5_ENST00000524840.1_5'UTR NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 671 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) ACAGTGACTTCTGTATGGCTT 0.433000 9 88 0 0 1 0 0 SERPINE2 5270 broad.mit.edu 37 2 224856626 224856626 + Nonsense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:224856626C>T ENST00000409840.3 - 5 1239 c.579G>A c.(577-579)tgG>tgA p.W193* SERPINE2_ENST00000258405.4_Nonsense_Mutation_p.W193*|SERPINE2_ENST00000447280.2_Nonsense_Mutation_p.W205*|SERPINE2_ENST00000409304.1_Nonsense_Mutation_p.W193* P07093 GDN_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 193 negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule heparin binding|receptor binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 17 Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797) Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902) ACCGTGATTTCCACAGACCCT 0.512000 9 60 0 0 1 0 0 PLXNA3 55558 broad.mit.edu 37 X 153690647 153690647 + Silent SNP G G A rs145756790 byFrequency TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chrX:153690647G>A ENST00000369682.3 + 4 1489 c.1314G>A c.(1312-1314)aaG>aaA p.K438K NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 438 Sema. axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity 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) GCAGCTTGAAGAAGGTGGCCC 0.652000 5 79 0 0 1 0 0 KIAA0226 9711 broad.mit.edu 37 3 197410213 197410213 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr3:197410213C>G ENST00000273582.5 - 14 2355 c.1810G>C c.(1810-1812)Gag>Cag p.E604Q KIAA0226_ENST00000296343.5_Missense_Mutation_p.E649Q|KIAA0226_ENST00000389665.5_Missense_Mutation_p.E674Q NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 649 Ser-rich. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) ACAAGCCACTCCAGCTCCGAG 0.607000 14 66 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3138037 3138037 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr4:3138037G>A ENST00000355072.5 + 21 2927 c.2782G>A c.(2782-2784)Gca>Aca p.A928T NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 928 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding p.A928T(1) breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) ACATGTTGCCGCAGCATCACT 0.378000 3 30 0 0 1 0 0 TTLL12 23170 broad.mit.edu 37 22 43576835 43576835 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr22:43576835G>C ENST00000216129.6 - 3 522 c.459C>G c.(457-459)ttC>ttG p.F153L NM_015140.3 NP_055955.1 Q14166 TTL12_HUMAN tubulin tyrosine ligase-like family, member 12 153 protein modification process tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 13 Ovarian(80;0.221)|Glioma(61;0.222) GCTCACCGTGGAACTCAATGC 0.652000 26 138 0 0 1 0 0 TBC1D22A 25771 broad.mit.edu 37 22 47308042 47308042 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr22:47308042C>G ENST00000337137.4 + 8 1139 c.973C>G c.(973-975)Ctc>Gtc p.L325V TBC1D22A_ENST00000355704.3_Missense_Mutation_p.L247V|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.L278V|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.L278V|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.L266V NM_014346.2 NP_055161.1 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 325 Rab-GAP TBC. intracellular protein homodimerization activity|Rab GTPase activator activity breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1) 22 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) TATAAATGATCTCGTCACTCC 0.398000 17 116 0 0 1 0 0 CCDC71 64925 broad.mit.edu 37 3 49201250 49201250 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr3:49201250G>A ENST00000321895.6 - 2 498 c.392C>T c.(391-393)cCa>cTa p.P131L NM_022903.3 NP_075054.3 Q8IV32 CCD71_HUMAN coiled-coil domain containing 71 131 endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GGCAAGGGCTGGTGTGGATGC 0.632000 16 68 0 0 1 0 0 LIPH 200879 broad.mit.edu 37 3 185252682 185252682 + Silent SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr3:185252682G>C ENST00000296252.4 - 2 429 c.288C>G c.(286-288)ctC>ctG p.L96L LIPH_ENST00000424591.2_Silent_p.L96L NM_139248.2 NP_640341.1 Q8WWY8 LIPH_HUMAN lipase, member H 96 lipid catabolic process extracellular space|plasma membrane heparin binding|phospholipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2) 20 all_cancers(143;8.87e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) CTTCAACAGAGAGCAAACCCT 0.438000 5 128 0 0 1 0 0 LPIN3 64900 broad.mit.edu 37 20 39984669 39984669 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr20:39984669C>G ENST00000373257.3 + 14 1889 c.1798C>G c.(1798-1800)Cag>Gag p.Q600E NM_022896.1 NP_075047.1 Q9BQK8 LPIN3_HUMAN lipin 3 600 C-LIP. fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) CTCCTCCGATCAGATCGTAAG 0.587000 7 65 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103279210 103279210 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr8:103279210C>G ENST00000520539.1 - 52 7993 c.7387G>C c.(7387-7389)Gat>Cat p.D2463H UBR5_ENST00000521922.1_Missense_Mutation_p.D2457H|UBR5_ENST00000518205.1_Missense_Mutation_p.D192H|UBR5_ENST00000220959.4_Missense_Mutation_p.D2463H NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2463 HECT. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) AATCCAAGATCCAGGATACTA 0.318000 23 158 0 0 1 0 0 WFDC13 164237 broad.mit.edu 37 20 44333211 44333211 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr20:44333211G>A ENST00000305479.2 + 2 325 c.217G>A c.(217-219)Gaa>Aaa p.E73K WFDC10B_ENST00000335769.2_Intron|WFDC10B_ENST00000330523.5_Intron NM_172005.1 NP_742002.1 Q8IUB5 WFD13_HUMAN WAP four-disulfide core domain 13 73 extracellular region peptidase inhibitor activity skin(1)|upper_aerodigestive_tract(1) 2 Myeloproliferative disorder(115;0.0122) CTGTTCATCAGAAACATTTCA 0.468000 21 117 0 0 1 0 0 NUP93 9688 broad.mit.edu 37 16 56864452 56864452 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr16:56864452G>A ENST00000564887.1 + 8 1200 c.571G>A c.(571-573)Gaa>Aaa p.E191K NUP93_ENST00000569842.1_Missense_Mutation_p.E314K|NUP93_ENST00000308159.5_Missense_Mutation_p.E314K|NUP93_ENST00000542526.1_Missense_Mutation_p.E191K NM_001242795.1 NP_001229724.1 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 314 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 TGGAGAGGTGGAAGGCCATCC 0.502000 23 129 0 0 1 0 0 SYNRG 11276 broad.mit.edu 37 17 35913868 35913868 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr17:35913868C>T ENST00000339208.6 - 14 2097 c.1957G>A c.(1957-1959)Gct>Act p.A653T SYNRG_ENST00000591288.1_Missense_Mutation_p.A492T|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000585472.1_Missense_Mutation_p.A574T|SYNRG_ENST00000502449.2_Missense_Mutation_p.A575T|SYNRG_ENST00000394378.2_Missense_Mutation_p.A575T|SYNRG_ENST00000346661.4_Missense_Mutation_p.A653T|SYNRG_ENST00000345615.4_Missense_Mutation_p.A575T NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 653 Interaction with A1P1G1 and A1P1G2. endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GTCATAGTAGCAGCAGAACCT 0.418000 14 99 0 0 1 0 0 CEP85 64793 broad.mit.edu 37 1 26596039 26596039 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:26596039G>C ENST00000252992.4 + 9 1714 c.1583G>C c.(1582-1584)aGa>aCa p.R528T CEP85_ENST00000451429.2_Missense_Mutation_p.R477T|CEP85_ENST00000469609.1_3'UTR NM_022778.2 NP_073615.2 Q6P2H3 CEP85_HUMAN centrosomal protein 85kDa 528 centrosome|nucleolus|spindle pole breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2) 25 GCAATCTGCAGAGAGAAGGAG 0.512000 6 50 0 0 1 0 0 C11orf68 83638 broad.mit.edu 37 11 65685289 65685289 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr11:65685289G>C ENST00000438576.2 - 2 608 c.523C>G c.(523-525)Ctg>Gtg p.L175V C11orf68_ENST00000449692.3_Missense_Mutation_p.L174V|C11orf68_ENST00000530188.1_Missense_Mutation_p.L133V Q9H3H3 CK068_HUMAN chromosome 11 open reading frame 68 133 large_intestine(1)|lung(3) 4 READ - Rectum adenocarcinoma(159;0.166) CCCGGTGCCAGATGCATAAGC 0.662000 5 44 0 0 1 0 0 KIF6 221458 broad.mit.edu 37 6 39580967 39580967 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr6:39580967C>T ENST00000287152.7 - 6 731 c.637G>A c.(637-639)Gag>Aag p.E213K KIF6_ENST00000373213.4_Missense_Mutation_p.E52K|KIF6_ENST00000373216.3_Missense_Mutation_p.E213K|KIF6_ENST00000373215.3_Missense_Mutation_p.E213K|KIF6_ENST00000538893.1_Missense_Mutation_p.E213K NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 213 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TTTATTACCTCTGCAATCATT 0.378000 4 41 0 0 1 0 0 SLC32A1 140679 broad.mit.edu 37 20 37356794 37356794 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr20:37356794G>A ENST00000217420.1 + 2 1353 c.1090G>A c.(1090-1092)Gac>Aac p.D364N NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 364 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CACCTGGGCCGACGAGACCAA 0.627000 6 66 0 0 1 0 0 KLHL42 57542 broad.mit.edu 37 12 27950647 27950647 + Splice_Site SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr12:27950647G>A ENST00000381271.2 + 3 1377 c.e3-1 NM_020782.1 NP_065833.1 kelch-like family member 42 CTTTCTTTCAGACCGGAACAT 0.468000 62 423 0 0 1 0 0 LACC1 144811 broad.mit.edu 37 13 44457986 44457986 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr13:44457986G>A ENST00000441843.1 + 4 1306 c.821G>A c.(820-822)gGa>gAa p.G274E LACC1_ENST00000325686.6_Missense_Mutation_p.G274E NM_001128303.1 NP_001121775.1 Q8IV20 CM031_HUMAN laccase (multicopper oxidoreductase) domain containing 1 274 AATCAGAGAGGAGTCACAATA 0.413000 10 79 0 0 1 0 0 DNHD1 144132 broad.mit.edu 37 11 6540947 6540947 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr11:6540947G>C ENST00000254579.6 + 8 2074 c.1510G>C c.(1510-1512)Gag>Cag p.E504Q DNHD1_ENST00000354685.3_Missense_Mutation_p.E504Q|DNHD1_ENST00000527990.2_Missense_Mutation_p.E504Q NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 504 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) CAAGCAACTGGAGCAGAAGCT 0.527000 8 68 0 0 1 0 0 CCNE2 9134 broad.mit.edu 37 8 95906442 95906442 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr8:95906442C>T ENST00000520509.1 - 2 260 c.8G>A c.(7-9)aGa>aAa p.R3K CCNE2_ENST00000308108.4_Missense_Mutation_p.R3K|CCNE2_ENST00000396133.3_Missense_Mutation_p.R3K O96020 CCNE2_HUMAN cyclin E2 3 cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein kinase binding cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(36;8.75e-07) TTACCTTCGTCTTGACATTCT 0.388000 36 268 0 0 1 0 0 PADI3 51702 broad.mit.edu 37 1 17603150 17603150 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:17603150G>A ENST00000375460.3 + 12 1484 c.1444G>A c.(1444-1446)Gat>Aat p.D482N NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 482 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) CCCTGCCCCCGATGGGAAGGT 0.597000 9 101 0 0 1 0 0 FBXO47 494188 broad.mit.edu 37 17 37093512 37093512 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr17:37093512C>G ENST00000378079.2 - 11 1474 c.1275G>C c.(1273-1275)ttG>ttC p.L425F NM_001008777.2 NP_001008777.2 Q5MNV8 FBX47_HUMAN F-box protein 47 425 NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 20 GGAACAAATTCAAAAAGCTTC 0.353000 8 49 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73572567 73572567 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr10:73572567G>A ENST00000224721.6 + 67 9573 c.9568G>A c.(9568-9570)Gac>Aac p.D3190N CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.D945N NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 3185 calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GCCTGATGATGACCGATACCT 0.577000 5 27 0 0 1 0 0 THBD 7056 broad.mit.edu 37 20 23029290 23029290 + Silent SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr20:23029290C>G ENST00000377103.2 - 1 1088 c.852G>C c.(850-852)gcG>gcC p.A284A NM_000361.2 NP_000352.1 P07204 TRBM_HUMAN thrombomodulin 284 EGF-like 2. blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation cell surface|integral to plasma membrane calcium ion binding|protein binding|transmembrane receptor activity endometrium(2)|large_intestine(3)|ovary(1)|skin(1) 7 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) Drotrecogin alfa(DB00055) AGGACTGCGTCGCGGATGCGG 0.716000 6 22 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133539648 133539648 + Missense_Mutation SNP T T C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:133539648T>C ENST00000409261.1 - 14 5109 c.4736A>G c.(4735-4737)gAt>gGt p.D1579G NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D1579G|NCKAP5_ENST00000409213.1_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1579 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TAAACCGCCATCTGGATTATC 0.388000 13 93 0 0 1 0 0 FSIP1 161835 broad.mit.edu 37 15 40062670 40062670 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr15:40062670C>T ENST00000350221.3 - 3 477 c.268G>A c.(268-270)Gat>Aat p.D90N NM_152597.4 NP_689810.3 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 90 NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 23 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) AAATCCAGATCTTCATCTGAT 0.358000 16 114 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10468885 10468885 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr8:10468885G>A ENST00000382483.3 - 4 2946 c.2723C>T c.(2722-2724)tCa>tTa p.S908L NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 908 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GCTTCTCCTTGATGCCCCTGA 0.711000 5 22 0 0 1 0 0 POGZ 23126 broad.mit.edu 37 1 151377434 151377434 + Silent SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:151377434C>G ENST00000271715.2 - 19 4391 c.4077G>C c.(4075-4077)ctG>ctC p.L1359L POGZ_ENST00000491586.1_Silent_p.L1315L|POGZ_ENST00000409503.1_Silent_p.L1350L|POGZ_ENST00000392723.1_Silent_p.L1306L|POGZ_ENST00000368863.2_Silent_p.L1264L|POGZ_ENST00000540984.1_Silent_p.L721L|POGZ_ENST00000531094.1_Silent_p.L1297L|POGZ_ENST00000361398.3_Silent_p.L1306L NM_001194937.1|NM_015100.3 NP_001181866.1|NP_055915.2 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 1359 cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 47 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GTTCCCCACTCAGCTTCAGTT 0.502000 OREG0003905 type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 115 0 0 1 0 0 AFF1 4299 broad.mit.edu 37 4 88036053 88036053 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr4:88036053C>G ENST00000307808.6 + 11 2467 c.2047C>G c.(2047-2049)Ctc>Gtc p.L683V AFF1_ENST00000395146.4_Missense_Mutation_p.L690V|AFF1_ENST00000544085.1_Missense_Mutation_p.L321V NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 683 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) CTCTAAGGCTCTCTCAGGCCC 0.637000 10 84 0 0 1 0 0 SUPT16H 11198 broad.mit.edu 37 14 21825480 21825480 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr14:21825480C>T ENST00000216297.2 - 22 2874 c.2536G>A c.(2536-2538)Gag>Aag p.E846K NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 846 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) TGGACCCGCTCAAAGTGGATC 0.438000 4 53 0 0 1 0 0 SMU1 55234 broad.mit.edu 37 9 33056843 33056843 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr9:33056843C>G ENST00000397149.3 - 8 1037 c.987G>C c.(985-987)caG>caC p.Q329H SMU1_ENST00000536631.1_Missense_Mutation_p.Q168H NM_018225.2 NP_060695.2 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) 329 cytoplasm|nucleus endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) ACCTAATTGTCTGGTCAAAAG 0.413000 8 132 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140201951 140201951 + Missense_Mutation SNP A A T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr5:140201951A>T ENST00000529859.1 + 1 591 c.591A>T c.(589-591)aaA>aaT p.K197N PCDHA5_ENST00000529619.1_Missense_Mutation_p.K197N|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.K197N|PCDHA1_ENST00000394633.3_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTTGAGGAAATCCTTAGATA 0.348000 19 96 0 0 1 0 0 UFL1 23376 broad.mit.edu 37 6 96985417 96985417 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr6:96985417G>A ENST00000369278.4 + 9 1036 c.970G>A c.(970-972)Gat>Aat p.D324N NM_015323.4 NP_056138.1 O94874 UFL1_HUMAN UFM1-specific ligase 1 324 negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation endoplasmic reticulum|nucleus protein binding|UFM1 conjugating enzyme activity AACATGGGTTGATATTGCAGT 0.353000 16 91 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 37064095 37064095 + Silent SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr5:37064095G>A ENST00000448238.2 + 46 8532 c.8064G>A c.(8062-8064)agG>agA p.R2688R NIPBL_ENST00000282516.8_Intron Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 844 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GGCGGAGGAGGAGTCAACGTA 0.413000 7 37 0 0 1 0 0 MEA1 4201 broad.mit.edu 37 6 42980718 42980718 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr6:42980718C>G ENST00000244711.3 - 3 506 c.352G>C c.(352-354)Gat>Cat p.D118H NM_014623.2 NP_055438.1 Q16626 MEA1_HUMAN male-enhanced antigen 1 118 cell differentiation|male gonad development|spermatogenesis protein binding central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1) 6 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CCCTCCTCATCTTCATCTTCA 0.483000 16 153 0 0 1 0 0 SNX20 124460 broad.mit.edu 37 16 50707318 50707318 + Nonstop_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr16:50707318C>G ENST00000330943.4 - 4 1121 c.950G>C c.(949-951)tGa>tCa p.*317S SNX20_ENST00000300590.3_Intron|SNX20_ENST00000423026.2_Intron NM_182854.2 NP_878274.1 Q7Z614 SNX20_HUMAN sorting nexin 20 0 cell communication|protein transport endosome membrane|nucleus|plasma membrane phosphatidylinositol binding|protein binding kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1) 15 CAGGCCGGCTCAGTGCAGGTA 0.572000 22 105 0 0 1 0 0 HIP1 3092 broad.mit.edu 37 7 75216085 75216085 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr7:75216085C>G ENST00000336926.6 - 5 477 c.451G>C c.(451-453)Gag>Cag p.E151Q HIP1_ENST00000434438.2_Missense_Mutation_p.E151Q NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 151 ENTH. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 GTGTGGTACTCCATCTTGGTT 0.572000 T PDGFRB CMML 6 18 0 0 1 0 0 HIP1 3092 broad.mit.edu 37 7 75168658 75168658 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr7:75168658C>T ENST00000336926.6 - 30 3072 c.3046G>A c.(3046-3048)Gag>Aag p.E1016K HIP1_ENST00000434438.2_Missense_Mutation_p.E965K NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 1016 activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 TCCCAGCCCTCAGCAACACCA 0.532000 T PDGFRB CMML 23 457 0 0 1 0 0 JMJD1C 221037 broad.mit.edu 37 10 64967345 64967345 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr10:64967345C>G ENST00000399262.2 - 10 4302 c.4084G>C c.(4084-4086)Gac>Cac p.D1362H JMJD1C_ENST00000542921.1_Missense_Mutation_p.D1180H|JMJD1C_ENST00000399251.1_Missense_Mutation_p.D1143H|JMJD1C_ENST00000402544.1_Missense_Mutation_p.D1143H NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1362 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TGAACACTGTCTGAATTCACA 0.413000 22 124 0 0 1 0 0 ACTN2 88 broad.mit.edu 37 1 236920804 236920804 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:236920804G>C ENST00000366578.4 + 18 2339 c.2173G>C c.(2173-2175)Gag>Cag p.E725Q ACTN2_ENST00000546208.1_Missense_Mutation_p.E219Q|ACTN2_ENST00000542672.1_Missense_Mutation_p.E725Q NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 725 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) TGTTGGATGGGAGCTGCTGCT 0.488000 14 71 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21478518 21478518 + Missense_Mutation SNP C C A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr3:21478518C>A ENST00000281523.2 - 5 1135 c.617G>T c.(616-618)tGt>tTt p.C206F ZNF385D_ENST00000494118.1_5'UTR NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 206 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 GCATAGCGAACAGTAAAGAAG 0.478000 21 127 1.64293e-13 1.72982e-13 1 1 0 CTU2 348180 broad.mit.edu 37 16 88780994 88780994 + Splice_Site SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr16:88780994G>A ENST00000567949.1 + 12 1423 c.e12-1 CTU2_ENST00000378384.3_Splice_Site|CTU2_ENST00000312060.5_Splice_Site|CTU2_ENST00000453996.2_Splice_Site Q2VPK5 CTU2_HUMAN cytosolic thiouridylase subunit 2 homolog (S. pombe) tRNA thio-modification|tRNA wobble uridine modification cytoplasm|protein complex|soluble fraction protein binding NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 TCTGCTTGCAGACAGTGCCAC 0.667000 13 64 0 0 1 0 0 NUP93 9688 broad.mit.edu 37 16 56865890 56865890 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr16:56865890G>A ENST00000564887.1 + 9 1482 c.853G>A c.(853-855)Gac>Aac p.D285N NUP93_ENST00000569842.1_Missense_Mutation_p.D408N|NUP93_ENST00000308159.5_Missense_Mutation_p.D408N|NUP93_ENST00000542526.1_Missense_Mutation_p.D285N NM_001242795.1 NP_001229724.1 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 408 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 TGAAGTGGCGGACAAAACTGA 0.517000 15 115 0 0 1 0 0 CDC27 996 broad.mit.edu 37 17 45229206 45229206 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr17:45229206G>A ENST00000066544.3 - 9 1129 c.1036C>T c.(1036-1038)Ctt>Ttt p.L346F CDC27_ENST00000446365.2_Missense_Mutation_p.L285F|CDC27_ENST00000527547.1_Missense_Mutation_p.L346F|CDC27_ENST00000531206.1_Missense_Mutation_p.L352F NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 346 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 GTTTGTGCAAGAATTGGAGTT 0.358000 22 168 0 0 1 0 0 CNOT4 4850 broad.mit.edu 37 7 135106925 135106925 + Nonsense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr7:135106925G>A ENST00000428680.2 - 3 631 c.352C>T c.(352-354)Cag>Tag p.Q118* CNOT4_ENST00000423368.2_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000356162.4_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000361528.4_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000414802.1_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000315544.5_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000451834.1_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000541284.1_Nonsense_Mutation_p.Q118* NM_001008225.2 NP_001008226.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 118 RRM. nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 GCTAGGCGCTGAGATAAACCT 0.368000 14 77 0 0 1 0 0 CCKBR 887 broad.mit.edu 37 11 6292373 6292373 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr11:6292373G>A ENST00000525462.1 + 4 1154 c.1151G>A c.(1150-1152)gGa>gAa p.G384E CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000532715.1_Missense_Mutation_p.G231E|CCKBR_ENST00000334619.2_Missense_Mutation_p.G315E P32239 GASR_HUMAN cholecystokinin B receptor 315 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) CCTGGGCCGGGATCCGGCTCC 0.632000 13 116 0 0 1 0 0 PPP4R1 9989 broad.mit.edu 37 18 9584724 9584724 + Nonsense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr18:9584724G>A ENST00000400556.3 - 7 761 c.688C>T c.(688-690)Cga>Tga p.R230* PPP4R1_ENST00000400555.3_Nonsense_Mutation_p.R213*|PPP4R1_ENST00000580583.1_5'UTR NM_001042388.2 NP_001035847.1 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 230 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity large_intestine(1)|skin(2) 3 AATACCTTTCGAACGTGAAAC 0.363000 6 29 0 0 1 0 0 IRS2 8660 broad.mit.edu 37 13 110434679 110434679 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr13:110434679C>G ENST00000375856.3 - 1 4236 c.3722G>C c.(3721-3723)aGa>aCa p.R1241T NM_003749.2 NP_003740.2 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 1241 fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 19 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) AGAGGTCTCTCTGCGCATGGG 0.731000 6 38 0 0 1 0 0 MID1 4281 broad.mit.edu 37 X 10463668 10463668 + Nonsense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chrX:10463668G>A ENST00000317552.4 - 4 1220 c.820C>T c.(820-822)Cag>Tag p.Q274* MID1_ENST00000453318.2_Nonsense_Mutation_p.Q274*|MID1_ENST00000380782.2_Nonsense_Mutation_p.Q274*|MID1_ENST00000380779.1_Nonsense_Mutation_p.Q274*|MID1_ENST00000380780.1_Nonsense_Mutation_p.Q274*|MID1_ENST00000380787.1_Nonsense_Mutation_p.Q274*|MID1_ENST00000380785.1_Nonsense_Mutation_p.Q274* NM_000381.3|NM_033289.1 NP_000372.1|NP_150631.1 O15344 TRI18_HUMAN midline 1 (Opitz/BBB syndrome) 274 microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade cytoplasm|microtubule|microtubule associated complex|spindle ligase activity|ubiquitin protein ligase binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 26 CGTCTTTGCTGAATGATCTCA 0.388000 17 127 0 0 1 0 0 SYDE1 85360 broad.mit.edu 37 19 15224386 15224386 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr19:15224386G>A ENST00000600252.1 + 5 2433 c.791G>A c.(790-792)cGa>cAa p.R264Q SYDE1_ENST00000600440.1_Missense_Mutation_p.R540Q|SYDE1_ENST00000342784.2_Missense_Mutation_p.R607Q Q6ZW31 SYDE1_HUMAN synapse defective 1, Rho GTPase, homolog 1 (C. elegans) 607 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1) 17 CGCCTGCCCCGACAATCTCCA 0.617000 5 263 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48676880 48676880 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr17:48676880C>T ENST00000352832.5 + 16 3653 c.3281C>T c.(3280-3282)cCc>cTc p.P1094L CACNA1G_ENST00000358244.5_Missense_Mutation_p.P1094L|CACNA1G_ENST00000442258.2_Missense_Mutation_p.P1094L|CACNA1G_ENST00000505165.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000515765.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000515165.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000514717.1_Missense_Mutation_p.P1094L|CACNA1G_ENST00000507896.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000514181.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000514079.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000513964.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000513689.2_Missense_Mutation_p.P1117L|CACNA1G_ENST00000507510.2_Missense_Mutation_p.P1117L|CACNA1G_ENST00000507609.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000354983.4_Missense_Mutation_p.P1094L|CACNA1G_ENST00000416767.4_Missense_Mutation_p.P1117L|CACNA1G_ENST00000429973.2_Missense_Mutation_p.P1117L|CACNA1G_ENST00000503485.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000360761.4_Missense_Mutation_p.P1094L|CACNA1G_ENST00000510366.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000512389.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000359106.5_Missense_Mutation_p.P1117L|CACNA1G_ENST00000515411.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P1094L|CACNA1G_ENST00000510115.1_Missense_Mutation_p.P1094L NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1117 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GGCCGTGCACCCAGCCTGAAG 0.682000 4 17 0 0 1 0 0 OR2S2 56656 broad.mit.edu 37 9 35957488 35957488 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr9:35957488G>A ENST00000341959.2 - 1 663 c.608C>T c.(607-609)aCg>aTg p.T203M NM_019897.2 NP_063950.2 Q9NQN1 OR2S1_HUMAN olfactory receptor, family 2, subfamily S, member 2 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194) GATCACATTCGTCACCTCCAT 0.483000 50 119 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105420387 105420387 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr14:105420387C>G ENST00000333244.5 - 7 1520 c.1401G>C c.(1399-1401)ttG>ttC p.L467F NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 467 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TTGTGTCTCTCAAGGACAGTC 0.542000 10 52 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262058 45262058 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr5:45262058C>T ENST00000303230.4 - 8 2695 c.2638G>A c.(2638-2640)Gac>Aac p.D880N NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 880 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TTTTCTGCGTCTGGGTCTGTG 0.483000 23 170 0 0 1 0 0 TMTC4 84899 broad.mit.edu 37 13 101277794 101277794 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr13:101277794G>A ENST00000342624.5 - 15 2089 c.1831C>T c.(1831-1833)Cgt>Tgt p.R611C TMTC4_ENST00000376234.3_Missense_Mutation_p.R592C|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Missense_Mutation_p.R481C NM_032813.2 NP_116202.2 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat containing 4 592 integral to membrane binding breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CTTACCAGACGCCCGAGGTTG 0.458000 12 87 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 37059248 37059248 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr5:37059248C>T ENST00000282516.8 + 44 8165 c.7666C>T c.(7666-7668)Ctt>Ttt p.L2556F NIPBL_ENST00000448238.2_Missense_Mutation_p.L2556F NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2556 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TTTGAAGAATCTTTGTGGATT 0.353000 6 50 0 0 1 0 0 CDKN2B-AS1 100048912 broad.mit.edu 37 9 22029493 22029493 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr9:22029493G>A ENST00000404796.2 + 5 522 c.409G>A c.(409-411)Gat>Aat p.D137N CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA p.0(1)|p.0?(1) ATGCTGTGATGATTCCTCAGC 0.463000 21 310 0 0 1 0 0 COL18A1 80781 broad.mit.edu 37 21 46900630 46900630 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr21:46900630C>T ENST00000359759.4 + 12 2735 c.2714C>T c.(2713-2715)cCt>cTt p.P905L COL18A1_ENST00000355480.5_Missense_Mutation_p.P670L|COL18A1_ENST00000400337.2_Missense_Mutation_p.P490L P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 905 Triple-helical region 3 (COL3). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CGAGGCTTCCCTGGACCTCCC 0.697000 10 59 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74274965 74274965 + Nonsense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:74274965C>T ENST00000409262.3 + 1 1516 c.1516C>T c.(1516-1518)Cag>Tag p.Q506* NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 506 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CCAGGAAGTGCAGGCTCATCC 0.627000 4 22 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 25982412 25982412 + Nonsense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:25982412G>C ENST00000435504.4 - 9 1171 c.878C>G c.(877-879)tCa>tGa p.S293* ASXL2_ENST00000272341.4_Nonsense_Mutation_p.S33*|ASXL2_ENST00000336112.4_Nonsense_Mutation_p.S265*|ASXL2_ENST00000404843.1_Nonsense_Mutation_p.S33* Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 293 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGAAGGACTGAAAATGTGTG 0.423000 22 131 0 0 1 0 0 PARP14 54625 broad.mit.edu 37 3 122446757 122446757 + Silent SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr3:122446757C>G ENST00000474629.2 + 16 5306 c.5040C>G c.(5038-5040)ctC>ctG p.L1680L NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1680 PARP catalytic. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) AGAAGCAACTCTTCCATGGGA 0.478000 8 53 0 0 1 0 0 NFKBID 84807 broad.mit.edu 37 19 36386983 36386983 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr19:36386983G>A ENST00000396901.1 - 9 1078 c.505C>T c.(505-507)Cgc>Tgc p.R169C NFKBID_ENST00000606253.1_Missense_Mutation_p.R169C|NFKBID_ENST00000352614.2_Missense_Mutation_p.R321C NM_139239.1 NP_640332.1 Q8NI38 IKBD_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta 169 inflammatory response nucleus breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 14 TCGGAAGGGCGCATAGCAACG 0.622000 4 141 0 0 1 0 0 TSKS 60385 broad.mit.edu 37 19 50247650 50247650 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr19:50247650G>A ENST00000246801.3 - 8 1281 c.1199C>T c.(1198-1200)tCa>tTa p.S400L TSKS_ENST00000358830.3_Missense_Mutation_p.S200L NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 400 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) AGACACTGCTGACCGCTCCAC 0.572000 14 86 0 0 1 0 0 ZNF142 7701 broad.mit.edu 37 2 219507517 219507517 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:219507517G>A ENST00000411696.2 - 7 4501 c.3722C>T c.(3721-3723)tCg>tTg p.S1241L ZNF142_ENST00000449707.1_Missense_Mutation_p.S1241L P52746 ZN142_HUMAN zinc finger protein 142 1241 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S1078L(1)|p.S1241L(1) breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GCGCAGTTTCGAGTTGGTACC 0.552000 5 233 0 0 1 0 0 GFM2 84340 broad.mit.edu 37 5 74021841 74021841 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr5:74021841C>G ENST00000296805.3 - 18 2294 c.1837G>C c.(1837-1839)Gaa>Caa p.E613Q GFM2_ENST00000515125.1_5'UTR|GFM2_ENST00000509430.1_Missense_Mutation_p.E613Q|GFM2_ENST00000345239.2_Missense_Mutation_p.E566Q NM_032380.3 NP_115756.2 Q969S9 RRF2M_HUMAN G elongation factor, mitochondrial 2 613 mitochondrial translation|ribosome disassembly mitochondrion GTP binding|GTPase activity breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1) 14 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.86e-56) TTGATACTTTCAGCATACTCA 0.418000 13 92 0 0 1 0 0 ZNF585A 199704 broad.mit.edu 37 19 37643489 37643489 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr19:37643489G>C ENST00000356958.4 - 5 1570 c.1312C>G c.(1312-1314)Cat>Gat p.H438D ZNF585A_ENST00000292841.5_Missense_Mutation_p.H383D|ZNF585A_ENST00000392157.2_Missense_Mutation_p.H383D|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Intron Q6P3V2 Z585A_HUMAN zinc finger protein 585A 438 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCACATTTATGAGGTTTCTCT 0.388000 16 138 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46245376 46245376 + Nonsense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr12:46245376C>G ENST00000334344.6 + 15 3642 c.3470C>G c.(3469-3471)tCa>tGa p.S1157* ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.S1008*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.S767* NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1157 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CCACTGATCTCAAATAGCCCA 0.478000 """N, S, F""" hepatocellular carcinoma 21 125 0 0 1 0 0 OPLAH 26873 broad.mit.edu 37 8 145111064 145111064 + Silent SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr8:145111064G>A ENST00000426825.1 - 15 2163 c.2082C>T c.(2080-2082)atC>atT p.I694I OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 694 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) TACTGTCGATGATGAGGCAGG 0.637000 14 72 0 0 1 0 0 SSSCA1 10534 broad.mit.edu 37 11 65338157 65338157 + Silent SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr11:65338157C>T ENST00000526877.1 + 2 107 c.102C>T c.(100-102)atC>atT p.I34I SSSCA1_ENST00000309328.3_Silent_p.I34I|SSSCA1_ENST00000531405.1_5'UTR|SSSCA1_ENST00000527920.1_5'UTR O60232 SSA27_HUMAN Sjogren syndrome/scleroderma autoantigen 1 34 cell division|mitosis protein binding kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 8 AAGATCGCATCTCCCGGCTCA 0.667000 10 51 0 0 1 0 0 ACVRL1 94 broad.mit.edu 37 12 52314550 52314550 + Nonsense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr12:52314550C>G ENST00000550683.1 + 9 1528 c.1427C>G c.(1426-1428)tCa>tGa p.S476* ACVRL1_ENST00000388922.4_Nonsense_Mutation_p.S462*|ACVRL1_ENST00000419526.2_Nonsense_Mutation_p.S288* NM_001077401.1 NP_001070869.1 P37023 ACVL1_HUMAN activin A receptor type II-like 1 462 Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) CAGGTCCTCTCAGGCCTAGCT 0.582000 5 45 0 0 1 0 0 FITM1 161247 broad.mit.edu 37 14 24600964 24600964 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr14:24600964C>T ENST00000558325.1 + 3 754 c.754C>T c.(754-756)Cat>Tat p.252_252insY FITM1_ENST00000267426.5_Silent_p.V64V CAGCAGTGGTCATCTTTGGGC 0.602000 14 82 0 0 1 0 0 NFIX 4784 broad.mit.edu 37 19 13184299 13184299 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr19:13184299G>A ENST00000358552.3 + 3 683 c.683G>A c.(682-684)aGa>aAa p.R228K NFIX_ENST00000360105.4_Missense_Mutation_p.R232K|NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000592199.1_Missense_Mutation_p.R229K|NFIX_ENST00000588228.1_Missense_Mutation_p.R182K|NFIX_ENST00000397661.2_Missense_Mutation_p.R229K|NFIX_ENST00000587260.1_Missense_Mutation_p.R228K|NFIX_ENST00000587760.1_Missense_Mutation_p.R221K|NFIX_ENST00000585575.1_Missense_Mutation_p.R221K Q14938 NFIX_HUMAN nuclear factor I/X (CCAAT-binding transcription factor) 229 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) GAGCTGGTGAGAGTATCACAG 0.527000 14 70 0 0 1 0 0 PRDM1 639 broad.mit.edu 37 6 106553064 106553064 + Silent SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr6:106553064C>T ENST00000369096.4 + 5 1263 c.1029C>T c.(1027-1029)ccC>ccT p.P343P PRDM1_ENST00000369089.3_Silent_p.P209P|PRDM1_ENST00000369091.2_Silent_p.P307P NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 343 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) GAAGCAGCCCCGACCAAAGCC 0.617000 """D, N, Mis, F, S""" DLBCL 12 109 0 0 1 0 0 EPHA1 2041 broad.mit.edu 37 7 143091299 143091299 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr7:143091299C>G ENST00000275815.3 - 15 2576 c.2490G>C c.(2488-2490)atG>atC p.M830I NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 830 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) CCTGATTGCTCATCTCCCCAT 0.512000 7 161 0 0 1 0 0 MYBPH 4608 broad.mit.edu 37 1 203144534 203144534 + Silent SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:203144534C>G ENST00000255416.4 - 2 318 c.261G>C c.(259-261)gtG>gtC p.V87V NM_004997.2 NP_004988.2 Q13203 MYBPH_HUMAN myosin binding protein H 87 Fibronectin type-III 1. cell adhesion|regulation of striated muscle contraction myosin filament structural constituent of muscle endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.153) Colorectal(1306;0.0306) AGCTCACAGTCACAGAGCTGC 0.627000 17 131 0 0 1 0 0 ABCD3 5825 broad.mit.edu 37 1 94955491 94955491 + Missense_Mutation SNP C C A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:94955491C>A ENST00000370214.4 + 15 1306 c.1282C>A c.(1282-1284)Cct>Act p.P428T ABCD3_ENST00000536817.1_Missense_Mutation_p.P355T|ABCD3_ENST00000394233.2_Missense_Mutation_p.P318T|ABCD3_ENST00000454898.2_Missense_Mutation_p.P452T|ABCD3_ENST00000484213.1_3'UTR NM_002858.3 NP_002849.1 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D (ALD), member 3 428 peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) TCCCTTGATACCTGGTGCTGG 0.318000 16 69 0.000566183 0.000575379 1 1 0 TMEM184A 202915 broad.mit.edu 37 7 1586684 1586684 + Silent SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr7:1586684C>T ENST00000297477.5 - 9 1462 c.1146G>A c.(1144-1146)gcG>gcA p.A382A NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 382 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) CGGGCCTGGGCGCCTCGTGCG 0.697000 4 68 0 0 1 0 0 MLXIP 22877 broad.mit.edu 37 12 122617979 122617979 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr12:122617979C>G ENST00000319080.6 + 9 1309 c.1177C>G c.(1177-1179)Cac>Gac p.H393D MLXIP_ENST00000538698.1_5'UTR Q9HAP2 MLXIP_HUMAN MLX interacting protein 393 Transactivation domain. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) ATCCCTGGCTCACATGGATGA 0.622000 10 61 0 0 1 0 0 PKN1 5585 broad.mit.edu 37 19 14580239 14580239 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr19:14580239C>T ENST00000242783.6 + 16 2228 c.2063C>T c.(2062-2064)cCg>cTg p.P688L PKN1_ENST00000342216.4_Missense_Mutation_p.P694L NM_002741.3 NP_002732.3 Q16512 PKN1_HUMAN protein kinase N1 688 Protein kinase. activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1) 31 TTCCAGACACCGGAGCACGTG 0.622000 4 156 0 0 1 0 0 PAXIP1 22976 broad.mit.edu 37 7 154767968 154767968 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr7:154767968G>A ENST00000404141.1 - 6 666 c.512C>T c.(511-513)tCa>tTa p.S171L PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.S171L Q6ZW49 PAXI1_HUMAN PAX interacting (with transcription-activation domain) protein 1 171 BRCT 2.|Interaction with PA1 (By similarity). DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent histone methyltransferase complex|nuclear matrix NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 33 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0296) UCEC - Uterine corpus endometrioid carcinoma (81;0.178) GGTTTTCTCTGATACGCAATC 0.403000 16 79 0 0 1 0 0 CCDC15 80071 broad.mit.edu 37 11 124857614 124857614 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr11:124857614C>G ENST00000529051.1 + 8 1751 c.1492C>G c.(1492-1494)Cag>Gag p.Q498E CCDC15_ENST00000344762.5_Missense_Mutation_p.Q498E Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 498 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) GCCAAAATATCAGGACCAGAA 0.398000 34 243 0 0 1 0 0 EDC4 23644 broad.mit.edu 37 16 67910785 67910785 + Nonsense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr16:67910785C>T ENST00000358933.5 + 4 600 c.361C>T c.(361-363)Cag>Tag p.Q121* EDC4_ENST00000574770.1_3'UTR NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 121 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) GGTGAAAATTCAGCCTGTCGC 0.517000 16 132 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109383857 109383857 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:109383857G>A ENST00000283195.6 + 20 6988 c.6862G>A c.(6862-6864)Ggg>Agg p.G2288R NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 2288 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GAATCAGAGTGGGACTTCAGT 0.388000 27 214 0 0 1 0 0 HLA-DQB1 3119 broad.mit.edu 37 6 32629838 32629838 + Silent SNP G G A rs9280010 TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr6:32629838G>A ENST00000399084.1 - 4 745 c.567C>T c.(565-567)atC>atT p.I189I HLA-DQB1_ENST00000399079.3_Silent_p.I189I|HLA-DQB1_ENST00000434651.2_Silent_p.I189I|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000399082.3_Silent_p.I99I|HLA-DQB1_ENST00000374943.4_Silent_p.I189I P01920 DQB1_HUMAN major histocompatibility complex, class II, DQ beta 1 189 Beta-2.|Ig-like C1-type. 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 MHC class II receptor activity breast(1)|large_intestine(1)|lung(1)|pancreas(1) 4 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCATCACCAGGATCTGGAAAG 0.582000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 15 79 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179584137 179584137 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:179584137C>T ENST00000589042.1 - 83 24204 c.23980G>A c.(23980-23982)Gtg>Atg p.V7994M TTN_ENST00000591111.1_Missense_Mutation_p.V7677M|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V6750M|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7677 Ig-like 62. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGGCATTCACGTCTTTCAGC 0.502000 11 140 0 0 1 0 0 RAB4A 5867 broad.mit.edu 37 1 229438699 229438699 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:229438699C>T ENST00000366690.4 + 7 840 c.632C>T c.(631-633)cCg>cTg p.P211L RAB4A_ENST00000473894.1_3'UTR NM_004578.2 NP_004569.2 P20338 RAB4A_HUMAN RAB4A, member RAS oncogene family 206 GDP binding|GTP binding|GTPase activity central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.178) GCACAGGCCCCGAACGCTCAG 0.582000 12 128 0 0 1 0 0 KRTAP10-10 353333 broad.mit.edu 37 21 46057586 46057586 + Silent SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr21:46057586C>T ENST00000380095.1 + 1 314 c.252C>T c.(250-252)tgC>tgT p.C84C TSPEAR_ENST00000323084.4_Intron NM_181688.1 NP_859016.1 P60014 KR10A_HUMAN keratin associated protein 10-10 84 15 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 13 AGCCGGATTGCTGCACCTCCT 0.642000 29 180 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160047823 160047823 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr5:160047823C>G ENST00000327245.5 - 15 2793 c.1947G>C c.(1945-1947)gaG>gaC p.E649D CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 649 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCCCTAAGCTCTCCCCGAGGT 0.557000 27 136 0 0 1 0 0 DHX16 8449 broad.mit.edu 37 6 30633423 30633423 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr6:30633423C>T ENST00000376442.3 - 5 949 c.754G>A c.(754-756)Gat>Aat p.D252N NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 252 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity kidney(2)|ovary(2) 4 AACTCCTCATCAGCCAGCTCC 0.617000 16 106 0 0 1 0 0 CASKIN2 57513 broad.mit.edu 37 17 73498128 73498128 + Silent SNP G G A rs140170248 TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr17:73498128G>A ENST00000321617.3 - 18 3613 c.3027C>T c.(3025-3027)ttC>ttT p.F1009F CASKIN2_ENST00000433559.2_Silent_p.F927F NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 1009 Pro-rich. cytoplasm p.F1009F(1) endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TGGCCACTCCGAAGGCCAGCA 0.662000 25 96 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2602462 2602462 + Silent SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr12:2602462C>T ENST00000399655.1 + 7 1288 c.1023C>T c.(1021-1023)caC>caT p.H341H CACNA1C_ENST00000335762.5_Silent_p.H341H|CACNA1C_ENST00000399617.1_Silent_p.H341H|CACNA1C_ENST00000399638.1_Silent_p.H341H|CACNA1C_ENST00000399595.1_Silent_p.H341H|CACNA1C_ENST00000344100.3_Silent_p.H341H|CACNA1C_ENST00000402845.3_Silent_p.H341H|CACNA1C_ENST00000406454.3_Silent_p.H341H|CACNA1C_ENST00000399603.1_Silent_p.H341H|CACNA1C_ENST00000399641.1_Silent_p.H341H|CACNA1C_ENST00000347598.4_Silent_p.H341H|CACNA1C_ENST00000399634.1_Silent_p.H341H|CACNA1C_ENST00000399644.1_Silent_p.H341H|CACNA1C_ENST00000399649.1_Silent_p.H341H|CACNA1C_ENST00000399601.1_Silent_p.H341H|CACNA1C_ENST00000327702.7_Silent_p.H341H|CACNA1C_ENST00000399591.1_Silent_p.H341H|CACNA1C_ENST00000399629.1_Silent_p.H341H|CACNA1C_ENST00000480911.1_Silent_p.H341H|CACNA1C_ENST00000399637.1_Silent_p.H341H|CACNA1C_ENST00000399606.1_Silent_p.H341H|CACNA1C_ENST00000399597.1_Silent_p.H341H|CACNA1C_ENST00000399621.1_Silent_p.H341H NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 341 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GTCCCAAGCACGGCATCACCA 0.612000 20 194 0 0 1 0 0 SPTLC1 10558 broad.mit.edu 37 9 94830337 94830337 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr9:94830337C>G ENST00000262554.2 - 6 476 c.471G>C c.(469-471)aaG>aaC p.K157N SPTLC1_ENST00000482632.1_5'UTR NM_006415.2 NP_006406.1 O15269 SPTC1_HUMAN serine palmitoyltransferase, long chain base subunit 1 157 integral to membrane|SPOTS complex protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 14 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) CTTCTTCTGTCTTCATAAATT 0.343000 9 27 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66461212 66461212 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr5:66461212G>A ENST00000404260.3 + 29 6522 c.6214G>A c.(6214-6216)Gag>Aag p.E2072K MAST4_ENST00000405643.1_Missense_Mutation_p.E1890K|MAST4_ENST00000403666.1_Missense_Mutation_p.E1880K|MAST4_ENST00000261569.7_Missense_Mutation_p.E1875K|MAST4_ENST00000403625.2_Missense_Mutation_p.E2069K O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 2072 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) AATTCCCTGTGAGAAGGAGCT 0.617000 10 80 0 0 1 0 0 ACTL6B 51412 broad.mit.edu 37 7 100252740 100252740 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr7:100252740C>T ENST00000160382.5 - 4 377 c.271G>A c.(271-273)Gag>Aag p.E91K NM_016188.4 NP_057272.1 O94805 ACL6B_HUMAN actin-like 6B 91 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TCCCAGTCCTCGACTGGGGCC 0.597000 9 34 0 0 1 0 0 ATP8B5P 158381 broad.mit.edu 37 9 35450407 35450407 + RNA SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr9:35450407G>A ENST00000430846.1 + 0 3257 AAATTGACTTGAGGTTTTTTT 0.338000 3 6 0 0 1 0 0 ALS2CR11 151254 broad.mit.edu 37 2 202483821 202483821 + Silent SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:202483821G>A ENST00000439140.1 - 1 77 c.33C>T c.(31-33)ttC>ttT p.F11F ALS2CR11_ENST00000450242.1_Silent_p.F11F|ALS2CR11_ENST00000286195.3_Silent_p.F11F|ALS2CR11_ENST00000439802.1_Silent_p.F11F NM_001168221.1 NP_001161693.1 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 11 NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3) 33 CAAGTGTGCTGAAAGGCCTAT 0.612000 7 112 0 0 1 0 0 HERC3 8916 broad.mit.edu 37 4 89625374 89625374 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr4:89625374C>T ENST00000402738.1 + 24 3022 c.2783C>T c.(2782-2784)tCa>tTa p.S928L HERC3_ENST00000264345.3_Missense_Mutation_p.S928L|HERC3_ENST00000543130.1_Missense_Mutation_p.S372L NM_001271602.1|NM_014606.1 NP_001258531.1|NP_055421.1 Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 928 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) TTCCAGCCTTCAGAACTGAGG 0.458000 27 159 0 0 1 0 0 CCDC86 79080 broad.mit.edu 37 11 60609623 60609623 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr11:60609623G>A ENST00000227520.5 + 1 80 c.26G>A c.(25-27)cGa>cAa p.R9Q RP11-804A23.2_ENST00000539897.1_RNA|RP11-804A23.4_ENST00000538705.1_RNA NM_024098.3 NP_077003.1 Q9H6F5 CCD86_HUMAN coiled-coil domain containing 86 9 interspecies interaction between organisms nucleus p.R9Q(1) endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3) 10 AGGCGCAGCCGACGGCTGGGA 0.637000 4 20 0 0 1 0 0 TRIML2 205860 broad.mit.edu 37 4 189012916 189012916 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr4:189012916C>T ENST00000512729.1 - 7 1149 c.775G>A c.(775-777)Gac>Aac p.D259N TRIML2_ENST00000326754.3_Missense_Mutation_p.D284N NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 259 B30.2/SPRY. ligase activity 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) TTTTCCACGTCCACCTCCCAG 0.597000 34 250 0 0 1 0 0 FAM161B 145483 broad.mit.edu 37 14 74409245 74409245 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr14:74409245G>A ENST00000286544.3 - 4 1486 c.1288C>T c.(1288-1290)Cgg>Tgg p.R430W FAM161B_ENST00000534936.1_Missense_Mutation_p.R367W NM_152445.2 NP_689658.2 family with sequence similarity 161, member B breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2) 21 GGATTCACCCGAGGCTGGAAT 0.562000 38 207 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27799876 27799876 + Missense_Mutation SNP C C A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:27799876C>A ENST00000408964.2 + 1 488 c.437C>A c.(436-438)tCt>tAt p.S146Y NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 146 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) ATCCCTAAATCTGCAAATTTG 0.383000 11 93 1.58986e-06 1.63465e-06 1 1 0 PRAMEF12 390999 broad.mit.edu 37 1 12837451 12837451 + Silent SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:12837451C>T ENST00000357726.4 + 3 1188 c.1161C>T c.(1159-1161)ctC>ctT p.L387L NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 387 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTGGGAACCTCATCTCCATGG 0.612000 27 217 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12520312 12520312 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:12520312G>C ENST00000358136.3 + 67 12653 c.12523G>C c.(12523-12525)Gaa>Caa p.E4175Q VPS13D_ENST00000543766.1_Missense_Mutation_p.E173Q|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.E4150Q NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 4174 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TGTGAAAACAGAAGGGGGTGT 0.488000 14 121 0 0 1 0 0 CASP8 841 broad.mit.edu 37 2 202141586 202141586 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:202141586C>T ENST00000358485.4 + 7 1070 c.874C>T c.(874-876)Cgg>Tgg p.R292W CASP8_ENST00000392258.3_Missense_Mutation_p.S211L|CASP8_ENST00000392259.2_Missense_Mutation_p.S211L|CASP8_ENST00000392266.3_Missense_Mutation_p.S196L|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000264275.5_Missense_Mutation_p.R250W|CASP8_ENST00000323492.7_Missense_Mutation_p.R218W|CASP8_ENST00000432109.2_Missense_Mutation_p.R233W NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 233 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 AAGCAAACCTCGGGGATACTG 0.428000 HNSCC(4;0.00038) 12 63 0 0 1 0 0 POU2F1 5451 broad.mit.edu 37 1 167358976 167358976 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:167358976G>A ENST00000367862.5 + 9 1167 c.932G>A c.(931-933)cGa>cAa p.R311Q POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.R259Q|POU2F1_ENST00000541643.3_Missense_Mutation_p.R299Q|POU2F1_ENST00000452019.1_3'UTR|POU2F1_ENST00000420254.3_Missense_Mutation_p.R299Q|POU2F1_ENST00000367866.2_Missense_Mutation_p.R322Q NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 299 POU-specific. negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 AAACAAAGACGAATCAAACTT 0.483000 5 24 0 0 1 0 0 MRPS23 51649 broad.mit.edu 37 17 55927329 55927329 + Splice_Site SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr17:55927329G>A ENST00000313608.8 - 1 88 c.44_splice c.e1+1 p.R15_splice MRPS23_ENST00000578444.1_Splice_Site_p.R15_splice NM_016070.3 NP_057154.2 Q9Y3D9 RT23_HUMAN mitochondrial ribosomal protein S23 15 translation intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome structural constituent of ribosome endometrium(2)|large_intestine(1)|lung(2) 5 Breast(9;8.75e-08) AGCACACACCGAGAGAAGATG 0.667000 3 15 0 0 1 0 0 SLC39A12 221074 broad.mit.edu 37 10 18280209 18280209 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr10:18280209C>G ENST00000377369.2 + 8 1672 c.1399C>G c.(1399-1401)Ctt>Gtt p.L467V SLC39A12_ENST00000539911.1_Missense_Mutation_p.L333V|SLC39A12_ENST00000377371.3_Missense_Mutation_p.L467V|SLC39A12_ENST00000377374.4_Missense_Mutation_p.L467V NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 467 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 ATGTTTTATTCTTCTTGTATC 0.308000 5 49 0 0 1 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907710 12907710 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:12907710G>A ENST00000317869.6 - 2 658 c.433C>T c.(433-435)Cgt>Tgt p.R145C NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 AGACGTTGACGTTTCGAGGGC 0.488000 34 193 0 0 1 0 0 HP1BP3 50809 broad.mit.edu 37 1 21072088 21072088 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:21072088C>G ENST00000375003.2 - 8 2359 c.859G>C c.(859-861)Gat>Cat p.D287H HP1BP3_ENST00000312239.5_Missense_Mutation_p.D439H Q5SSJ5 HP1B3_HUMAN heterochromatin protein 1, binding protein 3 439 H15 2. nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1) 16 all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201) GATGACTCATCTTCATCTTCA 0.448000 14 88 0 0 1 0 0 CAPN15 6650 broad.mit.edu 37 16 603390 603390 + Silent SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr16:603390C>T ENST00000219611.2 + 14 3498 c.3135C>T c.(3133-3135)atC>atT p.I1045I LA16c-366D1.3_ENST00000565879.1_RNA NM_005632.2 NP_005623.1 calpain 15 GCTTCTCTATCACCCACCGCC 0.677000 16 116 0 0 1 0 0 MAPKAP1 79109 broad.mit.edu 37 9 128321964 128321964 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr9:128321964C>T ENST00000265960.3 - 6 1128 c.796G>A c.(796-798)Gaa>Aaa p.E266K MAPKAP1_ENST00000373511.2_Missense_Mutation_p.E266K|MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.E266K|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.E266K|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.E266K|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.E74K|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.E74K NM_001006617.1 NP_001006618.1 Q9BPZ7 SIN1_HUMAN mitogen-activated protein kinase associated protein 1 266 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane Ras GTPase binding endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3) 23 GAGTACTTTTCAACCAGGGCC 0.473000 11 89 0 0 1 0 0 MED12 9968 broad.mit.edu 37 X 70357476 70357476 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chrX:70357476G>C ENST00000333646.6 + 40 6025 c.5826G>C c.(5824-5826)caG>caC p.Q1942H MED12_ENST00000374080.3_Missense_Mutation_p.Q1939H|MED12_ENST00000374102.1_Missense_Mutation_p.Q1938H|MED12_ENST00000478889.1_3'UTR NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1939 Gln-rich.|Interaction with CTNNB1 and GLI3. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) ACGGTTTGCAGACTTCCCAGG 0.527000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 4 34 0 0 1 0 0 ATXN7 6314 broad.mit.edu 37 3 63982159 63982159 + Splice_Site SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr3:63982159G>C ENST00000398590.3 + 12 3214 c.2661_splice c.e12+1 p.Q887_splice ATXN7_ENST00000487717.1_Splice_Site_p.Q887_splice|ATXN7_ENST00000484332.1_Splice_Site_p.Q742_splice|ATXN7_ENST00000538065.1_Splice_Site_p.Q887_splice|ATXN7_ENST00000295900.6_Splice_Site_p.Q887_splice NM_001177387.1 NP_001170858.1 O15265 ATX7_HUMAN ataxin 7 887 cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3) 35 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) TCCTTCATCAGGTAGGAAATG 0.493000 5 55 0 0 1 0 0 FAM90A1 55138 broad.mit.edu 37 12 8375060 8375060 + Silent SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr12:8375060G>C ENST00000538603.1 - 7 1311 c.753C>G c.(751-753)ctC>ctG p.L251L FAM90A1_ENST00000307435.6_Silent_p.L251L NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 251 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) TGACGGCCTGGAGCAGGCCGT 0.662000 9 158 0 0 1 0 0 KCNK9 51305 broad.mit.edu 37 8 140631230 140631230 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr8:140631230C>T ENST00000520439.1 - 2 459 c.396G>A c.(394-396)atG>atA p.M132I KCNK9_ENST00000303015.1_Missense_Mutation_p.M132I Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 132 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) CGAAGGTGTTCATGCGCTCGC 0.582000 5 49 0 0 1 0 0 CHMP7 91782 broad.mit.edu 37 8 23115565 23115565 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr8:23115565C>T ENST00000397677.1 + 6 1459 c.811C>T c.(811-813)Cgg>Tgg p.R271W CHMP7_ENST00000313219.7_Missense_Mutation_p.R271W|CHMP7_ENST00000520102.1_3'UTR NM_152272.3 NP_689485.1 Q8WUX9 CHMP7_HUMAN charged multivesicular body protein 7 271 cellular membrane organization|late endosome to vacuole transport cytosol|ESCRT III complex protein transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 Prostate(55;0.0513) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) AGAAGCCCGCCGGGCATGCCG 0.572000 15 142 0 0 1 0 0 SLC25A33 84275 broad.mit.edu 37 1 9633463 9633463 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:9633463G>C ENST00000302692.6 + 5 685 c.475G>C c.(475-477)Gaa>Caa p.E159Q NM_032315.2 NP_115691.1 Q9BSK2 S2533_HUMAN solute carrier family 25 (pyrimidine nucleotide carrier), member 33 159 transport integral to membrane|mitochondrial inner membrane endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1) 9 all_lung(157;0.246) all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419) AATGCAGCTAGAACAGAAGTA 0.333000 4 28 0 0 1 0 0 BTBD6 90135 broad.mit.edu 37 14 105716824 105716824 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr14:105716824G>A ENST00000463376.2 + 3 1589 c.1048G>A c.(1048-1050)Gaa>Aaa p.E350K BRF1_ENST00000379937.2_Intron|BTBD6_ENST00000392554.3_Missense_Mutation_p.E425K|BTBD6_ENST00000327471.3_Missense_Mutation_p.E350K|BRF1_ENST00000546474.1_Intron|BRF1_ENST00000440513.3_Intron|BRF1_ENST00000327359.3_Intron|BTBD6_ENST00000536364.1_Missense_Mutation_p.E425K Q96KE9 BTBD6_HUMAN BTB (POZ) domain containing 6 425 cytoplasmic mRNA processing body endometrium(1)|lung(3) 4 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391) Epithelial(152;0.18) GGTCCAGGTTGAACAAGACAC 0.577000 19 72 0 0 1 0 0 TRAV34 28648 broad.mit.edu 37 14 22675976 22675976 + RNA SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr14:22675976C>T ENST00000390461.2 + 0 300 CCCTGCATATCACAGCCTCCC 0.498000 14 45 0 0 1 0 0 THEG 51298 broad.mit.edu 37 19 374409 374409 + Silent SNP G G A rs150793768 TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr19:374409G>A ENST00000342640.4 - 2 363 c.321C>T c.(319-321)atC>atT p.I107I THEG_ENST00000346878.2_Silent_p.I107I NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein 107 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTTCTGGCTGATGGACAGCC 0.592000 13 83 0 0 1 0 0 FCRL4 83417 broad.mit.edu 37 1 157559097 157559097 + Silent SNP G G A rs150552645 byFrequency TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:157559097G>A ENST00000271532.1 - 3 339 c.204C>T c.(202-204)acC>acT p.T68T NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 68 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) CTGGGGTCAGGGTCAACTTTT 0.512000 11 71 0 0 1 0 0 NGLY1 55768 broad.mit.edu 37 3 25773840 25773840 + Nonsense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr3:25773840C>T ENST00000428257.1 - 9 1448 c.1341G>A c.(1339-1341)tgG>tgA p.W447* NGLY1_ENST00000280700.5_Nonsense_Mutation_p.W465*|NGLY1_ENST00000467224.1_Intron|NGLY1_ENST00000417874.2_Nonsense_Mutation_p.W423*|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000396649.3_Nonsense_Mutation_p.W465* NM_001145293.1 NP_001138765.1 Q96IV0 NGLY1_HUMAN N-glycanase 1 465 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 GGGCTACTCTCCAAGCCACTG 0.413000 15 121 0 0 1 0 0 MATR3 9782 broad.mit.edu 37 5 138657676 138657676 + Silent SNP G G T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr5:138657676G>T ENST00000394800.2 + 14 2241 c.1692G>T c.(1690-1692)gtG>gtT p.V564V MATR3_ENST00000509990.1_Silent_p.V564V|MATR3_ENST00000361059.2_Silent_p.V564V|MATR3_ENST00000394805.3_Silent_p.V564V|MATR3_ENST00000503811.1_Silent_p.V276V|MATR3_ENST00000504203.1_Silent_p.V226V|MATR3_ENST00000502499.1_Silent_p.V226V|MATR3_ENST00000502929.1_Silent_p.V564V|MATR3_ENST00000510056.1_Silent_p.V564V P43243 MATR3_HUMAN matrin 3 564 RRM 2. nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GGAGATGTGTGAAGGTTGACC 0.358000 15 97 6.31663e-08 6.55612e-08 1 1 0 CDK13 8621 broad.mit.edu 37 7 40027853 40027853 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr7:40027853G>A ENST00000181839.4 + 2 2472 c.1867G>A c.(1867-1869)Gat>Aat p.D623N CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.D623N NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 623 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 TAAAGAAGCTGATAGGTAAGT 0.423000 12 39 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113353843 113353843 + Nonsense_Mutation SNP G G T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr8:113353843G>T ENST00000297405.5 - 42 6759 c.6515C>A c.(6514-6516)tCa>tAa p.S2172* CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S2102*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S2132*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S2068* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2172 CUB 12. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ACTAGTTTCTGAGGATCCACT 0.383000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 9 48 0.00829132 0.0083485 1 1 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100489501 100489501 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr12:100489501C>T ENST00000279907.7 - 7 996 c.784G>A c.(784-786)Gaa>Aaa p.E262K UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.E262K NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 262 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 TCTATTGCTTCACTAAGAGAC 0.338000 5 50 0 0 1 0 0 ZNF750 79755 broad.mit.edu 37 17 80790328 80790328 + Translation_Start_Site SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr17:80790328C>G ENST00000269394.3 - 2 836 c.3G>C c.(1-3)atG>atC p.M1I TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 1 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) TGAGGAGACTCATTTTCCTCC 0.512000 13 52 0 0 1 0 0 ASXL1 171023 broad.mit.edu 37 20 30954193 30954193 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr20:30954193G>A ENST00000375687.4 + 2 488 c.64G>A c.(64-66)Gaa>Aaa p.E22K ASXL1_ENST00000470145.1_3'UTR|ASXL1_ENST00000542461.1_Missense_Mutation_p.E22K|ASXL1_ENST00000375689.1_Missense_Mutation_p.E18K|ASXL1_ENST00000306058.5_Missense_Mutation_p.E18K NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 22 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 TCAGGTATTAGAAAACTACTC 0.373000 """F, N, Mis""" """MDS, CMML""" 8 79 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89717661 89717661 + Nonsense_Mutation SNP C C A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr10:89717661C>A ENST00000371953.3 + 7 2043 c.686C>A c.(685-687)tCa>tAa p.S229* PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 229 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.S229*(6)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TCCTCCAATTCAGGACCCACA 0.423000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 13 119 2.27111e-07 2.3461e-07 1 1 0 FAT2 2196 broad.mit.edu 37 5 150947413 150947413 + Silent SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr5:150947413G>C ENST00000261800.5 - 1 1092 c.1080C>G c.(1078-1080)ctC>ctG p.L360L NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 360 epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCTCGAATTTGAGGGAAGACA 0.552000 19 126 0 0 1 0 0 RNF121 55298 broad.mit.edu 37 11 71668297 71668297 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr11:71668297G>C ENST00000361756.3 + 2 449 c.88G>C c.(88-90)Gaa>Caa p.E30Q RNF121_ENST00000530137.1_Intron|RNF121_ENST00000545854.1_Intron|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000393713.3_Intron|RNF121_ENST00000533380.1_Intron NM_018320.4 NP_060790.2 Q9H920 RN121_HUMAN ring finger protein 121 30 integral to membrane zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1) 13 TCTCTCTCCAGAAGAGCAATG 0.438000 13 93 0 0 1 0 0 POMK 84197 broad.mit.edu 37 8 42958929 42958929 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr8:42958929G>C ENST00000331373.5 + 4 493 c.238G>C c.(238-240)Gaa>Caa p.E80Q NM_001277971.1|NM_032237.3 NP_001264900.1|NP_115613.1 Q9H5K3 SG196_HUMAN 80 integral to membrane ATP binding|protein kinase activity GCTGAGAACAGAAGTGAGACA 0.502000 10 50 0 0 1 0 0 DCLK1 9201 broad.mit.edu 37 13 36401891 36401891 + Splice_Site SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr13:36401891C>T ENST00000255448.4 - 10 1499 c.1287_splice c.e10-1 p.E430_splice DCLK1_ENST00000379893.1_Splice_Site_p.E123_splice|DCLK1_ENST00000360631.3_Splice_Site_p.E430_splice NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 430 Protein kinase. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) ATCATGTGCTCCTGTCCAAAG 0.398000 9 104 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79470781 79470781 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:79470781G>A ENST00000370742.3 - 2 209 c.146C>T c.(145-147)tCa>tTa p.S49L NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 49 EGF-like 1. neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) ACCATTTCCTGAAAATCCCAT 0.378000 12 86 0 0 1 0 0 HLA-DOA 3111 broad.mit.edu 37 6 32975186 32975186 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr6:32975186C>T ENST00000229829.5 - 3 590 c.515G>A c.(514-516)cGc>cAc p.R172H HLA-DOA_ENST00000450833.2_Missense_Mutation_p.R142H NM_002119.3 NP_002110.1 P06340 DOA_HUMAN major histocompatibility complex, class II, DO alpha 172 Alpha-2.|Ig-like C1-type. 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 endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 9 GTGGAACTTGCGGAACAAATG 0.597000 5 243 0 0 1 0 0 ZKSCAN5 23660 broad.mit.edu 37 7 99128793 99128793 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr7:99128793G>C ENST00000394170.2 + 7 1692 c.1441G>C c.(1441-1443)Gaa>Caa p.E481Q ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.E481Q|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.E481Q NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 481 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) AGAATATTCAGAAGCAGACAT 0.338000 10 262 0 0 1 0 0 SLC25A25 114789 broad.mit.edu 37 9 130830799 130830799 + Silent SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr9:130830799C>T ENST00000373068.2 + 1 320 c.201C>T c.(199-201)gtC>gtT p.V67V SLC25A25_ENST00000373069.5_Silent_p.V67V NM_001006641.3 NP_001006642.1 Q6KCM7 SCMC2_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25 100 EF-hand 1. transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3) 10 GCCTGTGTGTCAACGACCTGG 0.731000 6 49 0 0 1 0 0 LYG2 254773 broad.mit.edu 37 2 99858883 99858883 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:99858883C>T ENST00000333017.2 - 6 695 c.583G>A c.(583-585)Gac>Aac p.D195N LYG2_ENST00000409238.1_Missense_Mutation_p.D195N NM_175735.3 NP_783862.2 Q86SG7 LYG2_HUMAN lysozyme G-like 2 195 cell wall macromolecule catabolic process|peptidoglycan catabolic process extracellular region lysozyme activity large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1) 12 TTGACGAAGTCATTGTCTATG 0.443000 13 163 0 0 1 0 0 ENOSF1 55556 broad.mit.edu 37 18 697244 697244 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr18:697244C>T ENST00000251101.7 - 3 393 c.305G>A c.(304-306)aGa>aAa p.R102K ENOSF1_ENST00000580982.1_Intron|ENOSF1_ENST00000383578.3_Intron|ENOSF1_ENST00000539164.1_Missense_Mutation_p.R102K|ENOSF1_ENST00000340116.7_Missense_Mutation_p.R123K NM_017512.5 NP_059982.2 Q7L5Y1 ENOF1_HUMAN enolase superfamily member 1 102 cellular amino acid catabolic process mitochondrion isomerase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 10 CCTTACCCATCTGAGCTGCCC 0.448000 56 356 0 0 1 0 0 TOM1L2 146691 broad.mit.edu 37 17 17766143 17766143 + Silent SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr17:17766143G>A ENST00000581396.1 - 10 1050 c.954C>T c.(952-954)gtC>gtT p.V318V TOM1L2_ENST00000478943.1_Silent_p.V101V|TOM1L2_ENST00000535933.1_Silent_p.V315V|TOM1L2_ENST00000379504.3_Silent_p.V368V|TOM1L2_ENST00000542206.1_Silent_p.V220V|TOM1L2_ENST00000540946.1_Silent_p.V270V|TOM1L2_ENST00000395739.4_Silent_p.V323V|TOM1L2_ENST00000318094.10_Silent_p.V323V NM_001033551.2 NP_001028723.1 Q6ZVM7 TM1L2_HUMAN target of myb1-like 2 (chicken) 368 intracellular protein transport intracellular endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2) 10 all_neural(463;0.228) GGGTGCCACTGACGCTCTCTG 0.527000 22 152 0 0 1 0 0 B3GNT2 10678 broad.mit.edu 37 2 62449676 62449676 + Silent SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:62449676G>A ENST00000301998.4 + 2 573 c.321G>A c.(319-321)acG>acA p.T107T B3GNT2_ENST00000405767.1_Silent_p.T107T NM_006577.5 NP_006568.2 Q9NY97 B3GN2_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 107 Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1) 18 Lung NSC(7;0.031)|all_lung(7;0.0634) LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963) CGGTGGTTACGGGTTTTAACA 0.493000 5 517 0 0 1 0 0 COL6A1 1291 broad.mit.edu 37 21 47423455 47423455 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr21:47423455G>A ENST00000361866.3 + 35 2729 c.2615G>A c.(2614-2616)cGg>cAg p.R872Q COL6A1_ENST00000498614.1_3'UTR NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 872 C-terminal globular domain.|VWFA 3. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) CACGACGTGCGGGTGGCGGTG 0.697000 8 60 0 0 1 0 0 CCDC78 124093 broad.mit.edu 37 16 774385 774385 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr16:774385C>T ENST00000293889.6 - 9 995 c.890G>A c.(889-891)cGc>cAc p.R297H NM_001031737.2 NP_001026907.2 A2IDD5 CCD78_HUMAN coiled-coil domain containing 78 297 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3) 9 Hepatocellular(780;0.0218) GTGGTAGCTGCGGGCAGCCCG 0.677000 4 150 0 0 1 0 0 C14orf119 55017 broad.mit.edu 37 14 23567289 23567289 + Nonstop_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr14:23567289G>C ENST00000319074.4 + 2 1278 c.422G>C c.(421-423)tGa>tCa p.*141S C14orf119_ENST00000554203.1_Nonstop_Mutation_p.*141S NM_017924.3 NP_060394.1 Q9NWQ9 CN119_HUMAN chromosome 14 open reading frame 119 0 central_nervous_system(1)|endometrium(1)|lung(1) 3 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00649) GGTAAGGACTGATAGGCATTC 0.468000 4 89 0 0 1 0 0 ASIC3 9311 broad.mit.edu 37 7 150748943 150748943 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr7:150748943G>A ENST00000357922.4 + 7 1855 c.1261G>A c.(1261-1263)Gag>Aag p.E421K ASIC3_ENST00000349064.5_Missense_Mutation_p.E421K|ASIC3_ENST00000297512.8_Missense_Mutation_p.E421K NM_020322.3 NP_064718.1 Q9UHC3 ACCN3_HUMAN acid-sensing (proton-gated) ion channel 3 421 sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity CCTCAACTATGAGACCGTGGA 0.612000 16 107 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32631191 32631191 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr9:32631191C>T ENST00000242310.4 - 1 4476 c.4387G>A c.(4387-4389)Gag>Aag p.E1463K NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1463 Bromo 1. male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TCTCTGAACTCTTCCCGAGAT 0.448000 89 182 0 0 1 0 0 GABRA6 2559 broad.mit.edu 37 5 161118948 161118948 + Splice_Site SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr5:161118948G>A ENST00000523217.1 + 8 1040 c.796_splice c.e8-1 p.G266_splice GABRA6_ENST00000274545.5_Splice_Site_p.G276_splice NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 276 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTATTTTAGGGATCACCACTG 0.388000 TCGA Ovarian(5;0.080) 16 124 0 0 1 0 0 MIR31HG 554202 broad.mit.edu 37 9 21512181 21512181 + RNA SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr9:21512181C>G ENST00000304425.3 - 0 181 MIR31_ENST00000362307.1_RNA NR_027054.1 CTTGCCTCCTCTCCAGTTCCA 0.453000 13 77 0 0 1 0 0 OR2M5 127059 broad.mit.edu 37 1 248309153 248309153 + Missense_Mutation SNP G G A rs145157861 byFrequency TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:248309153G>A ENST00000366476.1 + 1 704 c.704G>A c.(703-705)cGc>cAc p.R235H NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) GAGGGTCGTCGCAAAGCTTTT 0.468000 5 309 0 0 1 0 0 JAG2 3714 broad.mit.edu 37 14 105609893 105609893 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr14:105609893C>T ENST00000331782.3 - 25 3570 c.3167G>A c.(3166-3168)cGg>cAg p.R1056Q JAG2_ENST00000347004.2_Missense_Mutation_p.R1018Q NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 1056 auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) GCTGTTCCCCCGCTGGGTGAT 0.677000 6 20 0 0 1 0 0 EFNA3 1944 broad.mit.edu 37 1 155058671 155058671 + Silent SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:155058671C>T ENST00000368408.3 + 4 646 c.576C>T c.(574-576)atC>atT p.I192I EFNA3_ENST00000505139.1_Silent_p.I187I|EFNA3_ENST00000498667.1_3'UTR|EFNA3_ENST00000418360.2_Intron|EFNA3_ENST00000556931.1_Silent_p.I187I NM_004952.4 NP_004943.1 P52797 EFNA3_HUMAN ephrin-A3 192 cell-cell signaling anchored to membrane|integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2) 5 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193) ATGTGAAGATCAACGTGCTGG 0.697000 OREG0013850 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 37 0 0 1 0 0 GPRASP1 9737 broad.mit.edu 37 X 101909130 101909130 + Nonsense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chrX:101909130C>T ENST00000537097.1 + 6 1102 c.289C>T c.(289-291)Cag>Tag p.Q97* GPRASP1_ENST00000415986.1_Nonsense_Mutation_p.Q97*|GPRASP1_ENST00000444152.1_Nonsense_Mutation_p.Q97*|GPRASP1_ENST00000361600.5_Nonsense_Mutation_p.Q97*|RP4-769N13.7_ENST00000602441.1_RNA NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 97 cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GATGTGGGCTCAGCCCAGGTT 0.493000 19 259 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72020069 72020069 + Missense_Mutation SNP A A G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr12:72020069A>G ENST00000378743.3 - 22 4646 c.4288T>C c.(4288-4290)Tat>Cat p.Y1430H NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 1430 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TCTGGAGCATATTCAACAGCT 0.388000 15 121 0 0 1 0 0 PSD4 23550 broad.mit.edu 37 2 113951501 113951501 + Silent SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:113951501G>A ENST00000245796.6 + 10 2352 c.2157G>A c.(2155-2157)ggG>ggA p.G719G PSD4_ENST00000441564.2_Silent_p.G691G NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 719 SEC7. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GGGATGGCGGGAACTTCCCCA 0.537000 10 86 0 0 1 0 0 KDM8 79831 broad.mit.edu 37 16 27221654 27221654 + Silent SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr16:27221654G>A ENST00000286096.4 + 2 383 c.210G>A c.(208-210)gtG>gtA p.V70V KDM8_ENST00000441782.2_Silent_p.V108V|KDM8_ENST00000380948.2_Silent_p.V70V|KDM8_ENST00000568965.1_Silent_p.V70V NM_024773.2 NP_079049.2 Q8N371 KDM8_HUMAN lysine (K)-specific demethylase 8 70 G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GCAGCGAGGTGATCCTGGACT 0.607000 6 76 0 0 1 0 0 ARHGAP6 395 broad.mit.edu 37 X 11308547 11308547 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chrX:11308547C>T ENST00000380732.3 - 2 639 c.640G>A c.(640-642)Gat>Aat p.D214N ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380718.1_Intron O43182 RHG06_HUMAN Rho GTPase activating protein 6 196 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CGATGTGTATCGGAATTCATC 0.393000 17 89 0 0 1 0 0 TMEM50B 757 broad.mit.edu 37 21 34839412 34839412 + Nonsense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr21:34839412C>T ENST00000542230.2 - 3 331 c.117G>A c.(115-117)tgG>tgA p.W39* NM_006134.6 NP_006125.2 P56557 TM50B_HUMAN transmembrane protein 50B 39 endoplasmic reticulum|integral to membrane|plasma membrane breast(1)|kidney(1)|ovary(1)|skin(1) 4 CAATCATTATCCACCAGCCTG 0.398000 9 44 0 0 1 0 0 SART1 9092 broad.mit.edu 37 11 65734019 65734019 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr11:65734019G>C ENST00000312397.5 + 9 1272 c.1180G>C c.(1180-1182)Gag>Cag p.E394Q NM_005146.4 NP_005137.1 O43290 SNUT1_HUMAN squamous cell carcinoma antigen recognized by T cells 394 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCTCACGCCTGAGGAGATGGT 0.677000 4 15 0 0 1 0 0 CPB1 1360 broad.mit.edu 37 3 148558549 148558549 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr3:148558549G>A ENST00000491148.1 + 5 683 c.349G>A c.(349-351)Gag>Aag p.E117K CPB1_ENST00000282957.4_Missense_Mutation_p.E117K P15086 CBPB1_HUMAN carboxypeptidase B1 (tissue) 117 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 38 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) ACACAGTTATGAGAAGTACAA 0.428000 5 135 0 0 1 0 0 CASP8 841 broad.mit.edu 37 2 202149679 202149679 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:202149679C>G ENST00000358485.4 + 8 1316 c.1120C>G c.(1120-1122)Ctc>Gtc p.L374V CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Missense_Mutation_p.L231V|CASP8_ENST00000264275.5_Missense_Mutation_p.L332V|CASP8_ENST00000323492.7_Missense_Mutation_p.L300V|CASP8_ENST00000432109.2_Missense_Mutation_p.L315V NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 315 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 CTGCTGTATCCTCTCCCATGG 0.488000 HNSCC(4;0.00038) 20 153 0 0 1 0 0 PABPC1L 80336 broad.mit.edu 37 20 43559286 43559286 + Silent SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr20:43559286C>T ENST00000255136.3 + 8 1240 c.1158C>T c.(1156-1158)ctC>ctT p.L386L PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000217073.2_Silent_p.L386L|PABPC1L_ENST00000217074.4_3'UTR|PABPC1L_ENST00000490798.1_3'UTR NM_001124756.1 NP_001118228.1 Q4VXU2 PAP1L_HUMAN poly(A) binding protein, cytoplasmic 1-like 386 nucleotide binding|RNA binding breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 TGCAGCGCCTCTCCACCATGC 0.647000 43 291 0 0 1 0 0 UCKL1 54963 broad.mit.edu 37 20 62575962 62575962 + Silent SNP G G T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr20:62575962G>T ENST00000369908.5 - 6 1034 c.735C>A c.(733-735)gtC>gtA p.V245V UCKL1_ENST00000369892.3_Silent_p.V260V|UCKL1_ENST00000358711.3_Silent_p.V260V|UCKL1_ENST00000354216.6_Silent_p.V260V NM_001193379.1 NP_001180308.1 Q9NWZ5 UCKL1_HUMAN uridine-cytidine kinase 1-like 1 260 interspecies interaction between organisms endoplasmic reticulum|nucleus ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) AGGAGGGCTTGACAAACTTGT 0.632000 5 31 0.0215528 0.0216021 1 1 0 TRIM51HP 440041 broad.mit.edu 37 11 55065705 55065705 + RNA SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr11:55065705G>A ENST00000526016.1 - 0 3 NR_038174.2 GATGGGACAGGTGAGTTCCCT 0.483000 5 134 0 0 1 0 0 GABRA1 2554 broad.mit.edu 37 5 161300263 161300263 + Silent SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr5:161300263G>A ENST00000428797.2 + 6 751 c.396G>A c.(394-396)aaG>aaA p.K132K GABRA1_ENST00000437025.2_Silent_p.K132K|GABRA1_ENST00000023897.6_Silent_p.K132K|GABRA1_ENST00000444819.1_Silent_p.K132K|GABRA1_ENST00000420560.1_Silent_p.K132K|GABRA1_ENST00000393943.4_Silent_p.K132K NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 132 Missing (in Ref. 4; CAA31925). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) ACAATGGAAAGAAGTCAGTGG 0.463000 8 72 0 0 1 0 0 CHMP4C 92421 broad.mit.edu 37 8 82667666 82667666 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr8:82667666G>A ENST00000297265.4 + 3 623 c.430G>A c.(430-432)Gaa>Aaa p.E144K NM_152284.3 NP_689497.1 Q96CF2 CHM4C_HUMAN charged multivesicular body protein 4C 144 Intramolecular interaction with C- terminus (By similarity). cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1) 10 TATCGCCCAAGAAATCTCAGA 0.378000 20 97 0 0 1 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136323123 136323123 + Silent SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr9:136323123C>T ENST00000371929.3 + 28 4428 c.3984C>T c.(3982-3984)ttC>ttT p.F1328F ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000356589.2_Silent_p.F1241F|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Silent_p.F1272F|ADAMTS13_ENST00000371910.1_Silent_p.F124F NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 1328 CUB 2. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GCCGGCTCTTCATTAATGTGG 0.612000 4 79 0 0 1 0 0 SLC37A4 2542 broad.mit.edu 37 11 118895758 118895758 + Silent SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr11:118895758G>A ENST00000545985.1 - 11 1908 c.1152C>T c.(1150-1152)ttC>ttT p.F384F TRAPPC4_ENST00000533058.1_Silent_p.*258*|SLC37A4_ENST00000357590.5_Silent_p.F406F|SLC37A4_ENST00000330775.7_Silent_p.F405F|SLC37A4_ENST00000538950.1_Silent_p.F311F|SLC37A4_ENST00000525102.1_5'UTR NM_001164277.1|NM_001467.5 NP_001157749.1|NP_001458.1 O43826 G6PT1_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 4 384 glucose homeostasis|glucose metabolic process endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane glucose-6-phosphate transmembrane transporter activity endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1) 6 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.58e-05) CAATGGTGCTGAAGGGCAGCC 0.567000 10 97 0 0 1 0 0 SNX16 64089 broad.mit.edu 37 8 82752106 82752106 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr8:82752106G>A ENST00000396330.2 - 3 622 c.116C>T c.(115-117)tCt>tTt p.S39F SNX16_ENST00000353788.4_Missense_Mutation_p.S39F|SNX16_ENST00000345957.4_Missense_Mutation_p.S39F NM_022133.3 NP_071416.2 P57768 SNX16_HUMAN sorting nexin 16 39 cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome identical protein binding|phosphatidylinositol binding large_intestine(1)|ovary(1)|pancreas(1)|skin(2) 5 GCCCTTAGAAGAATTTGAGCT 0.398000 19 108 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2020512 2020512 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr8:2020512C>T ENST00000262113.4 + 9 1022 c.881C>T c.(880-882)aCg>aTg p.T294M MYOM2_ENST00000523438.1_Intron NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 294 Ig-like C2-type 2. muscle contraction myosin filament structural constituent of muscle p.T294M(1) autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) GAAGGCGAGACGGTCACTCTC 0.607000 11 56 0 0 1 0 0 NUMBL 9253 broad.mit.edu 37 19 41188818 41188818 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr19:41188818G>A ENST00000252891.4 - 4 472 c.305C>T c.(304-306)gCg>gTg p.A102V NUMBL_ENST00000540131.1_Missense_Mutation_p.A61V|NUMBL_ENST00000598779.1_Missense_Mutation_p.A61V NM_004756.3 NP_004747.1 Q9Y6R0 NUMBL_HUMAN numb homolog (Drosophila)-like 102 PID. cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process cytoplasm protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2) 16 Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105) CTTCTTCACCGCATCTTCACA 0.617000 4 137 0 0 1 0 0 C12orf68 387856 broad.mit.edu 37 12 48578122 48578122 + Nonsense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr12:48578122C>T ENST00000316554.3 + 1 757 c.217C>T c.(217-219)Cag>Tag p.Q73* NM_001013635.3 NP_001013657.3 Q52MB2 CL068_HUMAN chromosome 12 open reading frame 68 73 cytoplasm central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1) 4 CTCGCACATCCAGGTGCTCTC 0.647000 14 58 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20683120 20683120 + Missense_Mutation SNP G G T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr7:20683120G>T ENST00000404938.2 + 7 1195 c.543G>T c.(541-543)aaG>aaT p.K181N NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 367 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 TTGGAGATAAGATTGCTCTGT 0.393000 20 103 2.37509e-13 2.4947e-13 1 1 0 STRC 161497 broad.mit.edu 37 15 43893683 43893683 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr15:43893683G>C ENST00000450892.2 - 24 4689 c.4612C>G c.(4612-4614)Cta>Gta p.L1538V STRC_ENST00000541030.1_Missense_Mutation_p.L765V NM_153700.2 NP_714544.1 Q7RTU9 STRC_HUMAN stereocilin 1538 sensory perception of sound cell surface skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) CGATCTCCTAGACCTATTAAG 0.537000 12 81 0 0 1 0 0 PLIN5 440503 broad.mit.edu 37 19 4529176 4529176 + Silent SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr19:4529176C>T ENST00000381848.3 - 5 509 c.429G>A c.(427-429)ctG>ctA p.L143L CTB-50L17.14_ENST00000586020.1_3'UTR NM_001013706.2 NP_001013728.2 Q00G26 PLIN5_HUMAN perilipin 5 143 lipid particle endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 10 CGGAGCGCTTCAGCTCCACGC 0.627000 30 202 0 0 1 0 0 ASXL1 171023 broad.mit.edu 37 20 31021384 31021384 + Silent SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr20:31021384G>C ENST00000375687.4 + 12 1807 c.1383G>C c.(1381-1383)ctG>ctC p.L461L ASXL1_ENST00000306058.5_Silent_p.L456L NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 461 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 CAGCAGGGCTGAGCAGTCCCC 0.582000 """F, N, Mis""" """MDS, CMML""" 31 182 0 0 1 0 0 H2AFJ 55766 broad.mit.edu 37 12 14927629 14927629 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr12:14927629G>C ENST00000544848.1 + 1 360 c.225G>C c.(223-225)aaG>aaC p.K75N NM_177925.2 NP_808760.1 Q9BTM1 H2AJ_HUMAN H2A histone family, member J 75 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1) 5 GTGACAACAAGAAGACCAGGA 0.647000 7 143 0 0 1 0 0 ENDOV 284131 broad.mit.edu 37 17 78396012 78396012 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr17:78396012C>T ENST00000518137.1 + 4 398 c.370C>T c.(370-372)Ctt>Ttt p.L124F ENDOV_ENST00000517295.2_Missense_Mutation_p.L41F|ENDOV_ENST00000522751.1_5'UTR|ENDOV_ENST00000518901.1_5'UTR|ENDOV_ENST00000323854.5_Missense_Mutation_p.L79F|ENDOV_ENST00000520284.1_Intron|ENDOV_ENST00000520367.1_Missense_Mutation_p.L79F|ENDOV_ENST00000518644.1_Missense_Mutation_p.L41F|ENDOV_ENST00000517795.1_Intron|ENDOV_ENST00000518907.1_Intron NM_173627.3 NP_775898.2 Q8N8Q3 ENDOV_HUMAN endonuclease V 124 DNA repair endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding endometrium(1)|lung(1)|pancreas(1)|prostate(1) 4 ATAGGTCCTTCTTGTGGATGG 0.627000 Direct reversal of damage 7 30 0 0 1 0 0 XKR6 286046 broad.mit.edu 37 8 10755636 10755636 + Silent SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr8:10755636G>C ENST00000416569.2 - 3 1778 c.1752C>G c.(1750-1752)ctC>ctG p.L584L XKR6_ENST00000304437.2_Silent_p.L305L NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 584 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) CAATCTTAATGAGGGGCCCTT 0.522000 11 71 0 0 1 0 0 TTC3 7267 broad.mit.edu 37 21 38529114 38529114 + Silent SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr21:38529114G>A ENST00000399017.2 + 28 5645 c.2898G>A c.(2896-2898)ttG>ttA p.L966L TTC3_ENST00000355666.1_Silent_p.L966L|TTC3_ENST00000354749.2_Silent_p.L966L|TTC3_ENST00000479930.1_3'UTR NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 966 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) CAGCATCATTGAAGGAAGCCC 0.373000 17 115 0 0 1 0 0 EIF4ENIF1 56478 broad.mit.edu 37 22 31859948 31859948 + Nonsense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr22:31859948G>A ENST00000397525.1 - 5 527 c.304C>T c.(304-306)Cga>Tga p.R102* EIF4ENIF1_ENST00000397523.1_Nonsense_Mutation_p.R102*|RP11-247I13.11_ENST00000464523.1_RNA|RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000330125.5_Nonsense_Mutation_p.R102*|EIF4ENIF1_ENST00000344710.5_Intron|RP11-247I13.8_ENST00000439588.1_RNA NM_001164501.1 NP_001157973.1 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E nuclear import factor 1 102 nucleus protein binding|protein transporter activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 ACACGCTCTCGTGGATCTGGA 0.502000 4 88 0 0 1 0 0 MYO5A 4644 broad.mit.edu 37 15 52725429 52725429 + Silent SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr15:52725429C>T ENST00000399231.3 - 2 324 c.81G>A c.(79-81)ctG>ctA p.L27L MYO5A_ENST00000553916.1_Silent_p.L27L|MYO5A_ENST00000356338.6_Silent_p.L27L|MYO5A_ENST00000358212.6_Silent_p.L27L|MYO5A_ENST00000399233.2_Silent_p.L27L NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 27 Myosin head-like. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) AATCTTTGAGCAGCTCTGCTG 0.393000 9 69 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11100024 11100024 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr19:11100024G>A ENST00000358026.2 + 7 1434 c.1150G>A c.(1150-1152)Gaa>Aaa p.E384K SMARCA4_ENST00000429416.3_Missense_Mutation_p.E384K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E384K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E384K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E384K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E384K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E384K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E384K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E384K NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 384 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) CCGAATTCAGGAACTTGAAAA 0.607000 """F, N, Mis""" NSCLC 18 150 0 0 1 0 0 URGCP 55665 broad.mit.edu 37 7 43918731 43918731 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr7:43918731G>A ENST00000336086.6 - 4 2438 c.202C>T c.(202-204)Ccc>Tcc p.P68S RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Missense_Mutation_p.P68S|URGCP_ENST00000453200.1_Missense_Mutation_p.P111S|URGCP_ENST00000443736.1_Missense_Mutation_p.P68S|URGCP_ENST00000223341.7_Missense_Mutation_p.P68S|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000402306.3_Missense_Mutation_p.P102S Q8TCY9 URGCP_HUMAN upregulator of cell proliferation 111 cell cycle centrosome|nucleus GTP binding breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AAGTCTTTGGGAACCTGAGGG 0.547000 8 105 0 0 1 0 0 TNPO2 30000 broad.mit.edu 37 19 12817099 12817099 + Missense_Mutation SNP A A G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr19:12817099A>G ENST00000425528.1 - 15 1936 c.1579T>C c.(1579-1581)Ttt>Ctt p.F527L TNPO2_ENST00000441499.1_Missense_Mutation_p.F527L|TNPO2_ENST00000450764.2_Missense_Mutation_p.F527L|TNPO2_ENST00000592287.1_Missense_Mutation_p.F527L|TNPO2_ENST00000588216.1_Missense_Mutation_p.F527L|TNPO2_ENST00000356861.5_Missense_Mutation_p.F527L O14787 TNPO2_HUMAN transportin 2 527 intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TATTTCCCAAAGGCAAAGACA 0.592000 10 83 0 0 1 0 0 ATP2B3 492 broad.mit.edu 37 X 152818725 152818725 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chrX:152818725G>A ENST00000370186.1 + 11 2340 c.2014G>A c.(2014-2016)Gag>Aag p.E672K ATP2B3_ENST00000393842.1_Missense_Mutation_p.E672K|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E672K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E686K|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E686K|ATP2B3_ENST00000349466.2_Missense_Mutation_p.E686K Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 686 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGTGCGGCCCGAGGTAGCCAC 0.627000 11 76 0 0 1 0 0 CTAGE5 4253 broad.mit.edu 37 14 39771434 39771434 + Silent SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr14:39771434G>A ENST00000553728.1 + 14 2715 c.2502G>A c.(2500-2502)tcG>tcA p.S834S CTAGE5_ENST00000396165.4_Silent_p.S270S|CTAGE5_ENST00000396158.2_Silent_p.S304S|CTAGE5_ENST00000557038.1_Silent_p.S219S|CTAGE5_ENST00000341749.3_Silent_p.S287S|CTAGE5_ENST00000280083.3_Silent_p.S299S|CTAGE5_ENST00000553352.1_Silent_p.S270S|CTAGE5_ENST00000556148.1_Silent_p.S224S|CTAGE5_ENST00000348007.3_Silent_p.S299S|RP11-407N17.3_ENST00000603904.1_Silent_p.S270S|CTAGE5_ENST00000341502.5_Silent_p.S299S ACAGTGAATCGGAAAATGGTG 0.398000 4 195 0 0 1 0 0 ZNF436-AS1 148898 broad.mit.edu 37 1 23695932 23695932 + Missense_Mutation SNP C C A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:23695932C>A ENST00000335648.3 + 1 204 c.142C>A c.(142-144)Cag>Aag p.Q48K C1orf213_ENST00000437367.2_Missense_Mutation_p.Q48K|C1orf213_ENST00000458053.1_Intron|ZNF436_ENST00000314011.4_5'UTR|C1orf213_ENST00000454117.1_Missense_Mutation_p.Q48K|C1orf213_ENST00000518821.1_Intron kidney(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) TCCAGAGCCGCAGCGTTCTCT 0.572000 9 73 0.00448238 0.00453414 1 1 0 C1S 716 broad.mit.edu 37 12 7173187 7173187 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr12:7173187G>A ENST00000406697.1 + 10 1412 c.784G>A c.(784-786)Gaa>Aaa p.E262K C1S_ENST00000328916.3_Missense_Mutation_p.E262K|C1S_ENST00000402681.3_Missense_Mutation_p.E95K|C1S_ENST00000360817.5_Missense_Mutation_p.E262K P09871 C1S_HUMAN complement component 1, s subcomponent 262 CUB 2. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TCTAAATATTGAAACCAAGAG 0.413000 16 92 0 0 1 0 0 TMC2 117532 broad.mit.edu 37 20 2596827 2596827 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr20:2596827G>C ENST00000358864.1 + 15 1932 c.1917G>C c.(1915-1917)ttG>ttC p.L639F TMC2_ENST00000496948.1_3'UTR NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 639 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 TGCTGGGTTTGATCTTCAACC 0.438000 7 52 0 0 1 0 0 PWWP2B 170394 broad.mit.edu 37 10 134219115 134219115 + Missense_Mutation SNP G G T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr10:134219115G>T ENST00000305233.5 + 2 1170 c.1111G>T c.(1111-1113)Gac>Tac p.D371Y PWWP2B_ENST00000368609.4_Missense_Mutation_p.D371Y NM_138499.3 NP_612508.3 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2B 371 central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) GCCCTGTGCGGACGGCCCTGC 0.692000 16 112 1.02788e-11 1.07449e-11 1 1 0 AGPAT3 56894 broad.mit.edu 37 21 45402220 45402220 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr21:45402220G>C ENST00000398063.2 + 9 1570 c.1078G>C c.(1078-1080)Gag>Cag p.E360Q AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000327505.2_Missense_Mutation_p.E360Q|AGPAT3_ENST00000291572.8_Missense_Mutation_p.E360Q|AGPAT3_ENST00000398058.1_Missense_Mutation_p.E360Q|AGPAT3_ENST00000546158.1_Missense_Mutation_p.E360Q|AGPAT3_ENST00000398061.1_Missense_Mutation_p.E360Q NM_001037553.1 NP_001032642.1 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 360 VTEIEKGSSYGNQEFKKKE -> ESLEPGRWRLQ (in Ref. 3; AAQ89067). phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity large_intestine(4)|lung(5)|ovary(1)|prostate(1) 11 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) AGGAGTAACTGAGATAGAAAA 0.453000 32 251 0 0 1 0 0 NAT10 55226 broad.mit.edu 37 11 34139817 34139817 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr11:34139817G>A ENST00000257829.3 + 7 854 c.648G>A c.(646-648)atG>atA p.M216I NAT10_ENST00000531159.2_Missense_Mutation_p.M144I|NAT10_ENST00000527971.1_Missense_Mutation_p.M216I NM_024662.2 NP_078938.2 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 216 nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) TTGCCACCATGGAGGCCCTGC 0.547000 8 77 0 0 1 0 0 TLDC1 57707 broad.mit.edu 37 16 84520502 84520502 + Silent SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr16:84520502G>A ENST00000343629.6 - 5 875 c.693C>T c.(691-693)gtC>gtT p.V231V TLDC1_ENST00000535580.1_Silent_p.V204V NM_020947.3 NP_065998.3 TBC/LysM-associated domain containing 1 GACGCTCAGGGACCAGGGTAG 0.572000 11 59 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32750671 32750671 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:32750671C>T ENST00000421745.2 + 59 12030 c.11896C>T c.(11896-11898)Cac>Tac p.H3966Y NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 3966 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) CCCAGTGTTTCACCTGTTTCA 0.423000 11 44 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55721532 55721532 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr10:55721532C>T ENST00000373965.2 - 23 3404 c.3010G>A c.(3010-3012)Gaa>Aaa p.E1004K PCDH15_ENST00000395433.1_Missense_Mutation_p.E975K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1004K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E608K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E926K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E997K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E997K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E960K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E997K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1002K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.E997K|PCDH15_ENST00000373957.3_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 997 Cadherin 9. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GTTGTAGGTTCTTCATTAAGA 0.343000 HNSCC(58;0.16) 5 74 0 0 1 0 0 MFSD1 64747 broad.mit.edu 37 3 158519957 158519957 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr3:158519957G>A ENST00000415822.2 + 1 304 c.163G>A c.(163-165)Gag>Aag p.E55K MFSD1_ENST00000264266.8_Missense_Mutation_p.E6K|MFSD1_ENST00000392813.4_Missense_Mutation_p.E55K NM_022736.2 NP_073573.2 Q9H3U5 MFSD1_HUMAN major facilitator superfamily domain containing 1 6 transmembrane transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 26 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) GGAGGAGGATGAGGAAGCGCG 0.697000 3 32 0 0 1 0 0 ISM2 145501 broad.mit.edu 37 14 77941989 77941989 + Silent SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr14:77941989G>A ENST00000393684.3 - 8 1792 c.1401C>T c.(1399-1401)aaC>aaT p.N467N ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000429906.1_Silent_p.N474N|ISM2_ENST00000412904.1_Silent_p.N474N|ISM2_ENST00000342219.4_Silent_p.N555N Q6H9L7 ISM2_HUMAN isthmin 2 555 AMOP. extracellular region endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 21 CCTCCAGGGGGTTGTCGGTGC 0.632000 12 127 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53563110 53563110 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chrX:53563110C>T ENST00000342160.3 - 79 12986 c.12529G>A c.(12529-12531)Gag>Aag p.E4177K HUWE1_ENST00000262854.6_Missense_Mutation_p.E4177K Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 4177 HECT. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity p.E4067K(1) NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TGACCTACCTCAGTGCTGAAG 0.458000 7 32 0 0 1 0 0 STK17A 9263 broad.mit.edu 37 7 43635615 43635615 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr7:43635615G>A ENST00000319357.5 + 2 501 c.322G>A c.(322-324)Gag>Aag p.E108K STK17A_ENST00000462448.1_3'UTR NM_004760.2 NP_004751.2 Q9UEE5 ST17A_HUMAN serine/threonine kinase 17a 108 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 AATAATTCATGAGATTGCTGT 0.348000 15 83 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64473776 64473776 + Silent SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr14:64473776C>T ENST00000358025.3 + 31 4643 c.4413C>T c.(4411-4413)atC>atT p.I1471I SYNE2_ENST00000554584.1_Silent_p.I1471I|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.I1471I NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1471 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AATCATTAATCAGACTGGATA 0.353000 20 105 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34090925 34090925 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr20:34090925C>G ENST00000397527.1 + 30 5448 c.4728C>G c.(4726-4728)atC>atG p.I1576M CEP250_ENST00000342580.4_Missense_Mutation_p.I1520M NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 1576 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) AAAAACTGATCAAGGAGCTGG 0.542000 3 52 0 0 1 0 0 OR4B1 119765 broad.mit.edu 37 11 48238785 48238785 + Silent SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr11:48238785C>T ENST00000309562.2 + 1 442 c.424C>T c.(424-426)Ctg>Ttg p.L142L NM_001005470.1 NP_001005470.1 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, member 1 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L142M(1) breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 GTGTCACCTTCTGGTGGCTGG 0.458000 18 113 0 0 1 0 0 PRPF40B 25766 broad.mit.edu 37 12 50029170 50029170 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr12:50029170G>A ENST00000261897.1 + 13 1656 c.1105G>A c.(1105-1107)Gag>Aag p.E369K PRPF40B_ENST00000380281.1_Missense_Mutation_p.E375K|PRPF40B_ENST00000548825.2_Missense_Mutation_p.E397K Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 375 mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 GACCTTTGGGGAGCTGGAGGT 0.532000 22 164 0 0 1 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 4 78 0 0 1 0 0 ACTB 60 broad.mit.edu 37 7 5567507 5567507 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr7:5567507C>T ENST00000331789.5 - 6 1191 c.1000G>A c.(1000-1002)Gag>Aag p.E334K ACTB_ENST00000464611.1_5'UTR NM_001101.3 NP_001092.1 P60709 ACTB_HUMAN actin, beta 334 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) TACTTGCGCTCAGGAGGAGCA 0.627000 18 124 0 0 1 0 0 URGCP 55665 broad.mit.edu 37 7 43918732 43918732 + Silent SNP A A C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr7:43918732A>C ENST00000336086.6 - 4 2437 c.201T>G c.(199-201)gtT>gtG p.V67V RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Silent_p.V67V|URGCP_ENST00000453200.1_Silent_p.V110V|URGCP_ENST00000443736.1_Silent_p.V67V|URGCP_ENST00000223341.7_Silent_p.V67V|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000402306.3_Silent_p.V101V Q8TCY9 URGCP_HUMAN upregulator of cell proliferation 110 cell cycle centrosome|nucleus GTP binding breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AGTCTTTGGGAACCTGAGGGG 0.542000 9 109 0 0 1 0 0 FAM161B 145483 broad.mit.edu 37 14 74409110 74409110 + Nonsense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr14:74409110G>A ENST00000286544.3 - 4 1621 c.1423C>T c.(1423-1425)Cag>Tag p.Q475* FAM161B_ENST00000534936.1_Nonsense_Mutation_p.Q412* NM_152445.2 NP_689658.2 family with sequence similarity 161, member B breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2) 21 CAGGGCCGCTGAGGGTGGCGC 0.622000 21 124 0 0 1 0 0 MIR31HG 554202 broad.mit.edu 37 9 21512171 21512171 + RNA SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr9:21512171C>G ENST00000304425.3 - 0 181 MIR31_ENST00000362307.1_RNA NR_027054.1 ATGCCAGCATCTTGCCTCCTC 0.473000 16 97 0 0 1 0 0 SSX2IP 117178 broad.mit.edu 37 1 85128181 85128181 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:85128181C>T ENST00000437941.2 - 6 977 c.625G>A c.(625-627)Gat>Aat p.D209N SSX2IP_ENST00000370612.4_Missense_Mutation_p.D236N|SSX2IP_ENST00000342203.3_Missense_Mutation_p.D236N|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000605755.1_Missense_Mutation_p.D209N NM_001166295.1|NM_001166417.1 NP_001159767.1|NP_001159889.1 Q9Y2D8 ADIP_HUMAN synovial sarcoma, X breakpoint 2 interacting protein 236 cell adhesion nucleus|protein complex endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1) 19 all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173) CTTTTTCCATCAGCTCTCCCG 0.358000 9 71 0 0 1 0 0 TFAP2A 7020 broad.mit.edu 37 6 10410439 10410439 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr6:10410439G>A ENST00000379613.3 - 2 437 c.181C>T c.(181-183)Ccc>Tcc p.P61S TFAP2A_ENST00000379604.2_Missense_Mutation_p.P59S|TFAP2A_ENST00000379608.3_Missense_Mutation_p.P53S|RP1-290I10.6_ENST00000420777.1_RNA|TFAP2A_ENST00000497266.1_Intron|TFAP2A_ENST00000319516.4_Missense_Mutation_p.P55S|TFAP2A_ENST00000482890.1_Missense_Mutation_p.P59S P05549 AP2A_HUMAN transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 59 Gln/Pro-rich (transactivation domain). ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter centrosome|Golgi apparatus|nucleus chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 13 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) TAGGGTGGGGGGAAGTATGGG 0.657000 21 85 0 0 1 0 0 MED18 54797 broad.mit.edu 37 1 28660984 28660984 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:28660984G>A ENST00000373842.4 + 3 339 c.130G>A c.(130-132)Gac>Aac p.D44N MED18_ENST00000479574.1_3'UTR|MED18_ENST00000398997.2_Missense_Mutation_p.D44N NM_001127350.1|NM_017638.2 NP_001120822.1|NP_060108.2 Q9BUE0 MED18_HUMAN mediator complex subunit 18 44 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex identical protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113) OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649) TGGTTTGTGTGACAACATGGA 0.483000 49 279 0 0 1 0 0 ZNF645 158506 broad.mit.edu 37 X 22291314 22291314 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chrX:22291314G>A ENST00000323684.1 + 1 250 c.206G>A c.(205-207)cGa>cAa p.R69Q NM_152577.3 NP_689790.1 Q8N7E2 ZN645_HUMAN zinc finger protein 645 69 intracellular zinc ion binding cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 27 ATCTATGGGCGAATAATTCCG 0.383000 15 79 0 0 1 0 0 CTD-2090I13.1 0 broad.mit.edu 37 1 227618263 227618263 + RNA SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:227618263C>T ENST00000445817.1 + 0 1498 CCAGCATATTCTGCGAGTACT 0.498000 11 68 0 0 1 0 0 PLA2G7 7941 broad.mit.edu 37 6 46679238 46679238 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr6:46679238C>G ENST00000274793.7 - 7 854 c.658G>C c.(658-660)Gag>Cag p.E220Q PLA2G7_ENST00000541026.1_Missense_Mutation_p.E93Q|PLA2G7_ENST00000538237.1_Missense_Mutation_p.E175Q|PLA2G7_ENST00000537365.1_Missense_Mutation_p.E220Q NM_005084.3 NP_005075.3 Q13093 PAFA_HUMAN phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) 220 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1) 14 Lung(136;0.192) TGTACCTGCTCATTTCGTATA 0.408000 5 135 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35615256 35615256 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr13:35615256G>A ENST00000540320.1 + 2 1015 c.481G>A c.(481-483)Gaa>Aaa p.E161K NBEA_ENST00000310336.4_Missense_Mutation_p.E161K|NBEA_ENST00000379939.2_Missense_Mutation_p.E161K|NBEA_ENST00000400445.3_Missense_Mutation_p.E161K Q8NFP9 NBEA_HUMAN neurobeachin 161 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TGGGCTAATTGAACAAGTATT 0.368000 5 48 0 0 1 0 0 EDC3 80153 broad.mit.edu 37 15 74948152 74948152 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr15:74948152C>T ENST00000315127.4 - 4 923 c.742G>A c.(742-744)Gag>Aag p.E248K EDC3_ENST00000568176.1_Missense_Mutation_p.E248K|EDC3_ENST00000426797.3_Missense_Mutation_p.E248K NM_001142444.1|NM_025083.3 NP_001135916.1|NP_079359.2 Q96F86 EDC3_HUMAN enhancer of mRNA decapping 3 248 Required for interaction with DDX6 (By similarity). exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol protein binding|RNA binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 AAGATGTTCTCATCATGGCGG 0.537000 12 73 0 0 1 0 0 REEP1 65055 broad.mit.edu 37 2 86491153 86491153 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:86491153C>T ENST00000165698.5 - 3 260 c.117G>A c.(115-117)atG>atA p.M39I REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000541910.1_Missense_Mutation_p.M39I|REEP1_ENST00000540790.1_Missense_Mutation_p.M18I|REEP1_ENST00000538924.1_Missense_Mutation_p.M46I|REEP1_ENST00000535845.1_Missense_Mutation_p.M12I NM_022912.2 NP_075063.1 Q9H902 REEP1_HUMAN receptor accessory protein 1 39 cell death|protein insertion into membrane integral to membrane|mitochondrial membrane olfactory receptor binding breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 13 TCCAGTACATCATCCATTTGA 0.458000 13 101 0 0 1 0 0 TAF2 6873 broad.mit.edu 37 8 120768299 120768299 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr8:120768299G>A ENST00000378164.2 - 22 3123 c.2825C>T c.(2824-2826)tCt>tTt p.S942F TAF2_ENST00000519355.1_5'UTR NM_003184.3 NP_003175.1 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 942 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GCATAAGGGAGACTCCATGTT 0.328000 7 54 0 0 1 0 0 TMEM246 84302 broad.mit.edu 37 9 104238630 104238630 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr9:104238630C>T ENST00000374851.1 - 4 1892 c.745G>A c.(745-747)Gag>Aag p.E249K TMEM246_ENST00000374847.1_Missense_Mutation_p.E249K|TMEM246_ENST00000374848.3_Missense_Mutation_p.E249K|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA Q9BRR3 CI125_HUMAN transmembrane protein 246 249 integral to membrane p.E249K(1) TGGAGCCTCTCGGGGTGATAC 0.537000 4 131 0 0 1 0 0 PPDPF 79144 broad.mit.edu 37 20 62153098 62153098 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr20:62153098G>A ENST00000370179.3 + 4 407 c.211G>A c.(211-213)Gtg>Atg p.V71M PPDPF_ENST00000370177.1_Missense_Mutation_p.V97M|PPDPF_ENST00000473620.1_3'UTR NM_024299.2 NP_077275.1 Q9H3Y8 PPDPF_HUMAN pancreatic progenitor cell differentiation and proliferation factor 71 cell differentiation|multicellular organismal development kidney(1)|lung(2)|ovary(1) 4 CATGGCCACGGTGTTGGAGTC 0.657000 10 50 0 0 1 0 0 GOLPH3 64083 broad.mit.edu 37 5 32126511 32126511 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr5:32126511C>T ENST00000265070.6 - 4 1019 c.704G>A c.(703-705)cGc>cAc p.R235H NM_022130.3 NP_071413.1 Q9H4A6 GOLP3_HUMAN golgi phosphoprotein 3 (coat-protein) 235 cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network protein binding p.R235H(1) kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 GGCCAGCAAGCGCCTGTCCAT 0.517000 8 98 0 0 1 0 0 IMPACT 55364 broad.mit.edu 37 18 22020498 22020498 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr18:22020498G>A ENST00000284202.4 + 6 547 c.406G>A c.(406-408)Gaa>Aaa p.E136K NM_018439.3 NP_060909.1 Q9P2X3 IMPCT_HUMAN impact RWD domain protein 136 endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) GGAAGATGTTGAATGTGAAGA 0.358000 22 103 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62287510 62287510 + Silent SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr11:62287510G>A ENST00000378024.4 - 5 14653 c.14379C>T c.(14377-14379)ttC>ttT p.F4793F AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4793 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CTTCTCCTTTGAAGCCAGGCA 0.517000 53 341 0 0 1 0 0 SPATA7 55812 broad.mit.edu 37 14 88892873 88892873 + Missense_Mutation SNP G G A rs139160202 TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr14:88892873G>A ENST00000556553.1 + 6 1133 c.574G>A c.(574-576)Gat>Aat p.D192N SPATA7_ENST00000393545.4_Missense_Mutation_p.D224N|SPATA7_ENST00000045347.7_Missense_Mutation_p.D224N|SPATA7_ENST00000356583.5_Missense_Mutation_p.D192N Q9P0W8 SPAT7_HUMAN spermatogenesis associated 7 224 response to stimulus|visual perception cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 18 ACCCAGTGGGGATCTTTTGGA 0.448000 15 95 0 0 1 0 0 STX18 53407 broad.mit.edu 37 4 4543550 4543550 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr4:4543550C>T ENST00000306200.2 - 1 205 c.142G>A c.(142-144)Gac>Aac p.D48N STX18_ENST00000505286.1_Missense_Mutation_p.D48N NM_016930.2 NP_058626.1 Q9P2W9 STX18_HUMAN syntaxin 18 48 ER to Golgi vesicle-mediated transport|intracellular protein transport endoplasmic reticulum membrane|Golgi membrane|integral to membrane SNAP receptor activity large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 5 UCEC - Uterine corpus endometrioid carcinoma (64;0.0534) CTGGAGAAGTCGCCCTTGGGC 0.711000 4 45 0 0 1 0 0 C1GALT1C1 29071 broad.mit.edu 37 X 119760659 119760659 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chrX:119760659C>G ENST00000304661.5 - 2 601 c.363G>C c.(361-363)atG>atC p.M121I C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.M121I NM_001011551.2 NP_001011551.1 Q96EU7 C1GLC_HUMAN C1GALT1-specific chaperone 1 121 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 11 CTTTTCTCATCATTAACCACA 0.373000 16 94 0 0 1 0 0 CCDC136 64753 broad.mit.edu 37 7 128445932 128445932 + Nonsense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr7:128445932C>T ENST00000297788.4 + 7 1433 c.1066C>T c.(1066-1068)Cag>Tag p.Q356* CCDC136_ENST00000464832.1_Nonsense_Mutation_p.Q406*|CCDC136_ENST00000378685.4_Nonsense_Mutation_p.Q394*|CCDC136_ENST00000487361.1_Nonsense_Mutation_p.Q356* NM_022742.4 NP_073579.4 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 356 integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 GCTTCGGTTTCAGACCTCCCA 0.612000 9 38 0 0 1 0 0 C10orf53 282966 broad.mit.edu 37 10 50916500 50916500 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr10:50916500C>T ENST00000374112.3 + 3 323 c.311C>T c.(310-312)cCt>cTt p.P104L C10orf53_ENST00000535836.1_Missense_Mutation_p.P104L NM_182554.2 NP_872360.2 Q8N6V4 CJ053_HUMAN chromosome 10 open reading frame 53 0 endometrium(1)|lung(6) 7 all_neural(218;0.107) aaagtttctcctttgcaacag 0.493000 14 170 0 0 1 0 0 HSPBAP1 79663 broad.mit.edu 37 3 122459417 122459417 + Silent SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr3:122459417C>G ENST00000306103.2 - 8 1385 c.1242G>C c.(1240-1242)ggG>ggC p.G414G HSPBAP1_ENST00000383659.1_3'UTR NM_024610.5 NP_078886.2 Q96EW2 HBAP1_HUMAN HSPB (heat shock 27kDa) associated protein 1 414 cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1) 16 GBM - Glioblastoma multiforme(114;0.0531) CAAAGTCTTTCCCATCACTTC 0.468000 21 161 0 0 1 0 0 RNF4 6047 broad.mit.edu 37 4 2514856 2514856 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr4:2514856G>A ENST00000511600.1 + 7 1936 c.421G>A c.(421-423)Gag>Aag p.E141K RNF4_ENST00000541204.1_Missense_Mutation_p.E141K|RNF4_ENST00000314289.8_Missense_Mutation_p.E141K|RNF4_ENST00000506706.1_Missense_Mutation_p.E141K|RNF4_ENST00000511859.1_Silent_p.Q87Q P78317 RNF4_HUMAN ring finger protein 4 141 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance cytoplasm|PML body androgen receptor binding|DNA binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|SUMO polymer binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(2)|lung(1) 5 all_epithelial(65;0.241) CGGATACTCAGAGGTAAGTAA 0.458000 33 266 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144871748 144871748 + Silent SNP G G T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:144871748G>T ENST00000369359.4 - 35 5660 c.5622C>A c.(5620-5622)tcC>tcA p.S1874S PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Silent_p.S1738S|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Silent_p.S1738S|PDE4DIP_ENST00000530740.1_Silent_p.S1823S Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1738 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding 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) CCTCAGCCAAGGAGACCACTG 0.582000 T PDGFRB MPD 9 166 0.00829132 0.0083485 1 1 0 ZNF148 7707 broad.mit.edu 37 3 124952001 124952001 + Silent SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr3:124952001C>T ENST00000360647.4 - 9 2054 c.1569G>A c.(1567-1569)ctG>ctA p.L523L ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Silent_p.L523L|ZNF148_ENST00000484491.1_Silent_p.L523L|ZNF148_ENST00000485866.1_Silent_p.L523L NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 523 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 TCTCCACATTCAGTGCCTGTG 0.428000 24 149 0 0 1 0 0 NUP93 9688 broad.mit.edu 37 16 56867258 56867258 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr16:56867258G>A ENST00000564887.1 + 11 1737 c.1108G>A c.(1108-1110)Gca>Aca p.A370T NUP93_ENST00000569842.1_Missense_Mutation_p.A493T|NUP93_ENST00000308159.5_Missense_Mutation_p.A493T|NUP93_ENST00000542526.1_Missense_Mutation_p.A370T NM_001242795.1 NP_001229724.1 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 493 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 TGTCCATGTAGCACTGGTGCT 0.507000 13 86 0 0 1 0 0 IQGAP1 8826 broad.mit.edu 37 15 90982576 90982576 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr15:90982576C>G ENST00000268182.5 + 6 604 c.480C>G c.(478-480)ttC>ttG p.F160L IQGAP1_ENST00000560738.1_Intron NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 160 energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) TGTACCTGTTCAAGCTAGGCC 0.433000 4 39 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167248966 167248966 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr3:167248966C>G ENST00000308378.3 - 9 1404 c.1099G>C c.(1099-1101)Gag>Cag p.E367Q WDR49_ENST00000476376.1_Missense_Mutation_p.E192Q|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.E431Q NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 367 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 TTTTTGCCCTCAGTGTCAATC 0.408000 7 72 0 0 1 0 0 POU4F3 5459 broad.mit.edu 37 5 145719521 145719521 + Silent SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr5:145719521C>T ENST00000230732.4 + 2 620 c.531C>T c.(529-531)ctC>ctT p.L177L CTC-359M8.1_ENST00000515598.1_RNA NM_002700.2 NP_002691.1 Q15319 PO4F3_HUMAN POU class 4 homeobox 3 177 sensory perception of sound|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTGCATGCCTCAGCGACGTGG 0.692000 6 87 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40368749 40368749 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr19:40368749C>T ENST00000221347.6 - 28 12606 c.12599G>A c.(12598-12600)cGg>cAg p.R4200Q NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4200 VWFD 10. extracellular region protein binding p.R4200L(1) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CACGTCTACCCGCCAGTTCCA 0.607000 5 196 0 0 1 0 0 SSX1 6756 broad.mit.edu 37 X 48117231 48117231 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chrX:48117231G>A ENST00000376919.3 + 3 256 c.120G>A c.(118-120)atG>atA p.M40I NM_001278691.1|NM_005635.2 NP_001265620.1|NP_005626.1 Q16384 SSX1_HUMAN synovial sarcoma, X breakpoint 1 40 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|transcription corepressor activity SS18/SSX1(1169)|SS18L1/SSX1(2) endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 9 GGAAAAAGATGAAATACTCGG 0.358000 T SS18 synovial sarcoma 4 50 0 0 1 0 0 KIAA2018 205717 broad.mit.edu 37 3 113376843 113376843 + Nonsense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr3:113376843G>C ENST00000316407.4 - 7 4096 c.3686C>G c.(3685-3687)tCa>tGa p.S1229* KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Nonsense_Mutation_p.S1229* NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 1229 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 CTGAGAAGTTGAATCCTGTAA 0.433000 6 76 0 0 1 0 0 INTS7 25896 broad.mit.edu 37 1 212154494 212154494 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:212154494C>T ENST00000366994.3 - 10 1275 c.1171G>A c.(1171-1173)Gaa>Aaa p.E391K INTS7_ENST00000440600.2_Missense_Mutation_p.E342K|INTS7_ENST00000366992.3_Missense_Mutation_p.E391K|INTS7_ENST00000366993.3_Missense_Mutation_p.E391K|INTS7_ENST00000469606.1_5'UTR NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 391 snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) AGTAGGGATTCCAGGCCAAAG 0.363000 8 61 0 0 1 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40839868 40839868 + Nonsense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr17:40839868G>A ENST00000264638.4 + 8 1392 c.1175G>A c.(1174-1176)tGg>tAg p.W392* CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 392 Laminin G-like 2. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) TTCCGCACCTGGGACCTCACC 0.642000 18 72 0 0 1 0 0 XPR1 9213 broad.mit.edu 37 1 180794073 180794073 + Silent SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:180794073C>G ENST00000367590.4 + 8 1146 c.948C>G c.(946-948)ctC>ctG p.L316L XPR1_ENST00000367589.3_Silent_p.L316L NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 316 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 ATCAACATCTCTTTGAGGTAA 0.388000 6 37 0 0 1 0 0 ACO1 48 broad.mit.edu 37 9 32407278 32407278 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr9:32407278C>G ENST00000379923.1 + 4 323 c.117C>G c.(115-117)atC>atG p.I39M ACO1_ENST00000309951.5_Missense_Mutation_p.I39M|ACO1_ENST00000541043.1_5'UTR NM_001278352.1 NP_001265281.1 P21399 ACOC_HUMAN aconitase 1, soluble 39 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 30 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) CATTTTCGATCAGAGTTCTTC 0.383000 20 143 0 0 1 0 0 KIF19 124602 broad.mit.edu 37 17 72348967 72348967 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr17:72348967C>G ENST00000389916.4 + 15 2126 c.1988C>G c.(1987-1989)tCc>tGc p.S663C NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 663 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 CAGGACAGCTCCTTGCCCAAA 0.547000 17 161 0 0 1 0 0 G0S2 50486 broad.mit.edu 37 1 209849179 209849179 + Silent SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:209849179C>T ENST00000367029.4 + 2 312 c.150C>T c.(148-150)ttC>ttT p.F50F RP1-28O10.1_ENST00000441672.1_RNA NM_015714.3 NP_056529.1 P27469 G0S2_HUMAN G0/G1switch 2 50 cell cycle large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(81;0.041) GCAGCCCCTTCACGGCCGCCA 0.667000 5 15 0 0 1 0 0 TAPBP 6892 broad.mit.edu 37 6 33271721 33271721 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr6:33271721G>A ENST00000426633.2 - 7 1516 c.1346C>T c.(1345-1347)tCc>tTc p.S449F TAPBP_ENST00000456592.2_Intron|TAPBP_ENST00000489157.1_Intron|TAPBP_ENST00000434618.2_Intron|TAPBP_ENST00000475304.1_Intron NM_172208.2 NP_757345.2 O15533 TPSN_HUMAN TAP binding protein (tapasin) 0 antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|MHC class I peptide loading complex|microsome MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding endometrium(2)|large_intestine(5)|lung(8)|ovary(3) 18 CAGAGAGGTGGAGCACTGTAC 0.517000 9 88 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84532182 84532182 + RNA SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr9:84532182G>C ENST00000527857.1 + 0 2204 NR_026851.1 CAAAATTTCAGAGCTATCTGT 0.488000 4 47 0 0 1 0 0 TIMM21 29090 broad.mit.edu 37 18 71816318 71816318 + Missense_Mutation SNP G G T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr18:71816318G>T ENST00000580087.1 + 1 561 c.275G>T c.(274-276)gGa>gTa p.G92V TIMM21_ENST00000169551.6_Missense_Mutation_p.G92V Q9BVV7 TI21L_HUMAN translocase of inner mitochondrial membrane 21 homolog (yeast) 92 protein transport|transmembrane transport integral to membrane|mitochondrial membrane CAGAGAGGGGGAACCGCCGTC 0.502000 11 78 1.58986e-06 1.63465e-06 1 1 0 RAD52 5893 broad.mit.edu 37 12 1036313 1036313 + Silent SNP G G T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr12:1036313G>T ENST00000358495.3 - 6 603 c.465C>A c.(463-465)ctC>ctA p.L155L RAD52_ENST00000539046.1_Silent_p.L78L|RAD52_ENST00000536177.1_Silent_p.L155L|RAD52_ENST00000430095.2_Silent_p.L155L|RAD52_ENST00000545564.1_Silent_p.L155L NM_134424.2 NP_602296.2 P43351 RAD52_HUMAN RAD52 homolog (S. cerevisiae) 155 DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323) GCGCTCACCTGAGGGCTCGCT 0.512000 Homologous recombination 23 195 6.32553e-13 6.62819e-13 1 1 0 SIPA1L3 23094 broad.mit.edu 37 19 38572705 38572705 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr19:38572705G>A ENST00000222345.6 + 3 1009 c.500G>A c.(499-501)cGg>cAg p.R167Q NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 167 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CTCCCCCTTCGGCACCGCAGC 0.721000 27 122 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 96006028 96006028 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr10:96006028G>A ENST00000260766.3 + 8 3380 c.2746G>A c.(2746-2748)Gag>Aag p.E916K PLCE1_ENST00000371380.2_Missense_Mutation_p.E916K|PLCE1_ENST00000371375.1_Missense_Mutation_p.E608K|PLCE1_ENST00000371385.3_Missense_Mutation_p.E608K NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 916 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) TAACACAGCTGAGCCTGGAAA 0.507000 18 81 0 0 1 0 0 BBS5 129880 broad.mit.edu 37 2 170344504 170344504 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:170344504G>A ENST00000295240.3 + 5 642 c.266G>A c.(265-267)cGa>cAa p.R89Q BBS5_ENST00000554017.1_Missense_Mutation_p.R89Q|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.R89Q|BBS5_ENST00000392663.2_Missense_Mutation_p.R89Q NM_152384.2 NP_689597.1 Bardet-Biedl syndrome 5 p.R89Q(1) endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 CAGAAATTACGAGGCCAAACT 0.294000 Bardet-Biedl syndrome 13 133 0 0 1 0 0 SLC12A3 6559 broad.mit.edu 37 16 56916369 56916369 + Silent SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr16:56916369C>T ENST00000438926.2 + 13 1658 c.1629C>T c.(1627-1629)atC>atT p.I543I SLC12A3_ENST00000563236.1_Silent_p.I543I|SLC12A3_ENST00000566786.1_Silent_p.I542I|SLC12A3_ENST00000262502.5_Silent_p.I542I NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330.2|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 543 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) ATGCCCTCATCAACTTCAGCT 0.597000 21 153 0 0 1 0 0 GUSBP1 728411 broad.mit.edu 37 5 21491520 21491520 + RNA SNP A A G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr5:21491520A>G ENST00000607545.1 + 0 179 NR_027026.1 GTCGTGGACAACCAGGCTGGG 0.552000 4 121 0 0 1 0 0 NCBP1 4686 broad.mit.edu 37 9 100413653 100413653 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr9:100413653G>A ENST00000375147.3 + 10 1313 c.1057G>A c.(1057-1059)Gag>Aag p.E353K NM_002486.4 NP_002477.1 Q09161 NCBP1_HUMAN nuclear cap binding protein subunit 1, 80kDa 353 gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex protein binding|RNA cap binding NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4) 19 Acute lymphoblastic leukemia(62;0.158) CCACATAGTTGAGGTATGAAT 0.338000 7 58 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41008819 41008819 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr19:41008819G>C ENST00000352632.3 + 11 1427 c.1341G>C c.(1339-1341)gaG>gaC p.E447D SPTBN4_ENST00000344104.3_Missense_Mutation_p.E447D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E447D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E447D|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E447D Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 447 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGCTGAATGAGAACCAGCGTC 0.597000 19 133 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215963552 215963552 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:215963552G>C ENST00000366943.2 - 51 10417 c.10031C>G c.(10030-10032)tCt>tGt p.S3344C USH2A_ENST00000307340.3_Missense_Mutation_p.S3344C O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3344 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding 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) ATGTGCTTTAGACTCTCCACT 0.378000 HNSCC(13;0.011) 19 86 0 0 1 0 0 C4orf50 389197 broad.mit.edu 37 4 5981936 5981936 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr4:5981936C>T ENST00000531445.1 - 2 1601 c.1555G>A c.(1555-1557)Gag>Aag p.E519K C4orf50_ENST00000324058.5_Missense_Mutation_p.E45K Q6ZRC1 CD050_HUMAN chromosome 4 open reading frame 50 45 breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1) 15 CGGGTGGCCTCGTCCAGAGAC 0.682000 5 33 0 0 1 0 0 HADHA 3030 broad.mit.edu 37 2 26427038 26427038 + Silent SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:26427038C>G ENST00000380649.3 - 12 1242 c.1113G>C c.(1111-1113)ctG>ctC p.L371L NM_000182.4 NP_000173.2 P40939 ECHA_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 371 fatty acid beta-oxidation fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1) 30 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) NADH(DB00157) CTGCTCCCATCAGCCCTGCAC 0.483000 21 332 0 0 1 0 0 IKZF2 22807 broad.mit.edu 37 2 213921665 213921665 + Nonsense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:213921665G>A ENST00000457361.1 - 4 466 c.298C>T c.(298-300)Caa>Taa p.Q100* IKZF2_ENST00000413091.3_Nonsense_Mutation_p.Q100*|IKZF2_ENST00000342002.2_Nonsense_Mutation_p.Q106*|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000451136.2_Nonsense_Mutation_p.Q100*|IKZF2_ENST00000434687.1_Nonsense_Mutation_p.Q100*|IKZF2_ENST00000374319.4_Nonsense_Mutation_p.Q100*|IKZF2_ENST00000421754.2_Nonsense_Mutation_p.Q100* NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 100 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) CCCTCGCCTTGAAGCTCCTGG 0.517000 17 71 0 0 1 0 0 IMPACT 55364 broad.mit.edu 37 18 22020483 22020483 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr18:22020483G>A ENST00000284202.4 + 6 532 c.391G>A c.(391-393)Gaa>Aaa p.E131K NM_018439.3 NP_060909.1 Q9P2X3 IMPCT_HUMAN impact RWD domain protein 131 endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) GAAGAAAACTGAAGAGGAAGA 0.373000 19 93 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43895410 43895410 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:43895410G>C ENST00000562955.1 + 28 4032 c.4032G>C c.(4030-4032)caG>caC p.Q1344H SZT2_ENST00000372442.1_Missense_Mutation_p.Q502H NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 1401 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 CTGAGTTTCAGAGCACCCGTG 0.547000 13 90 0 0 1 0 0 XPO6 23214 broad.mit.edu 37 16 28143700 28143700 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr16:28143700C>G ENST00000304658.5 - 12 2061 c.1561G>C c.(1561-1563)Gaa>Caa p.E521Q XPO6_ENST00000565698.1_Missense_Mutation_p.E507Q NM_015171.2 NP_055986.1 Q96QU8 XPO6_HUMAN exportin 6 521 protein export from nucleus protein binding|protein transporter activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 AAATAAACTTCTAAATTGTCC 0.299000 6 16 0 0 1 0 0 C5orf51 285636 broad.mit.edu 37 5 41911179 41911179 + Silent SNP G G T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr5:41911179G>T ENST00000381647.2 + 4 403 c.384G>T c.(382-384)ctG>ctT p.L128L C5orf51_ENST00000505931.2_3'UTR NM_175921.4 NP_787117.3 A6NDU8 CE051_HUMAN chromosome 5 open reading frame 51 128 endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 ATGAGCTACTGGAATGTCTCT 0.378000 8 37 1.06961e-07 1.10754e-07 1 1 0 CTNNBL1 56259 broad.mit.edu 37 20 36407619 36407619 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr20:36407619G>A ENST00000405275.2 + 11 1075 c.832G>A c.(832-834)Gag>Aag p.E278K CTNNBL1_ENST00000373473.1_Missense_Mutation_p.E118K|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.E53K|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.E305K Q8WYA6 CTBL1_HUMAN catenin, beta like 1 305 apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins nucleus enzyme binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) CAGCACGGCTGAGGAGCAGGA 0.473000 11 52 0 0 1 0 0 MAPK4 5596 broad.mit.edu 37 18 48252439 48252439 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr18:48252439G>A ENST00000400384.2 + 5 1997 c.961G>A c.(961-963)Gag>Aag p.E321K MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Missense_Mutation_p.E110K NM_002747.3 NP_002738.2 P31152 MK04_HUMAN mitogen-activated protein kinase 4 321 cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) CCCTGAGGACGAGCCCACCTC 0.572000 5 136 0 0 1 0 0 TBX1 6899 broad.mit.edu 37 22 19766861 19766861 + Silent SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr22:19766861C>T ENST00000329705.7 + 9 1257 c.1128C>T c.(1126-1128)ccC>ccT p.P376P TBX1_ENST00000359500.3_Intron NM_080646.1 NP_542377.1 O43435 TBX1_HUMAN T-box 1 376 embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development nucleus protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|lung(3)|ovary(2) 8 Colorectal(54;0.0993) all_lung(157;3.05e-06) TCCCCTGCCCCGCAGAGTGCC 0.597000 7 82 0 0 1 0 0 COPB1 1315 broad.mit.edu 37 11 14496058 14496058 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr11:14496058C>T ENST00000249923.3 - 14 2020 c.1720G>A c.(1720-1722)Gag>Aag p.E574K COPB1_ENST00000526191.1_5'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.E574K NM_016451.4 NP_057535.1 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 574 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 36 TTTTTCTTCTCCTGAACCAAA 0.388000 13 141 0 0 1 0 0 C2orf80 389073 broad.mit.edu 37 2 209036779 209036779 + Silent SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:209036779G>A ENST00000341287.4 - 7 582 c.387C>T c.(385-387)ctC>ctT p.L129L C2orf80_ENST00000453017.1_Intron|C2orf80_ENST00000451346.1_Silent_p.L110L NM_001099334.2 NP_001092804.1 Q0P641 CB080_HUMAN chromosome 2 open reading frame 80 129 endometrium(2)|large_intestine(3)|lung(6)|skin(2) 13 AGGAGAGGCAGAGAGATGAAA 0.488000 41 224 0 0 1 0 0 ORC1 4998 broad.mit.edu 37 1 52859253 52859253 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:52859253C>T ENST00000371568.3 - 6 1162 c.944G>A c.(943-945)cGc>cAc p.R315H ORC1_ENST00000371566.1_Missense_Mutation_p.R315H NM_001190818.1|NM_001190819.1|NM_004153.3 NP_001177747.1|NP_001177748.1|NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 315 cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding p.R315H(1) breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CAGGATTATGCGATGTTCAGG 0.468000 4 197 0 0 1 0 0 HBQ1 3049 broad.mit.edu 37 16 231027 231027 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr16:231027G>A ENST00000199708.2 + 3 383 c.349G>A c.(349-351)Gac>Aac p.D117N NM_005331.4 NP_005322.1 P09105 HBAT_HUMAN hemoglobin, theta 1 117 hemoglobin complex heme binding|oxygen binding|oxygen transporter activity large_intestine(1) 1 all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306) CTACCCCGGAGACTTCAGCCC 0.701000 6 64 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 31279123 31279123 + Nonsense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chrX:31279123G>A ENST00000357033.4 - 63 9441 c.9235C>T c.(9235-9237)Caa>Taa p.Q3079* DMD_ENST00000378707.3_Nonsense_Mutation_p.Q619*|DMD_ENST00000359836.1_Nonsense_Mutation_p.Q619*|DMD_ENST00000541735.1_Nonsense_Mutation_p.Q619*|DMD_ENST00000378702.4_Nonsense_Mutation_p.Q11*|DMD_ENST00000378680.2_Nonsense_Mutation_p.Q11*|DMD_ENST00000378677.2_Nonsense_Mutation_p.Q3075*|DMD_ENST00000343523.2_Nonsense_Mutation_p.Q619*|DMD_ENST00000474231.1_Nonsense_Mutation_p.Q619*|DMD_ENST00000378723.3_Nonsense_Mutation_p.Q11*|DMD_ENST00000361471.4_Nonsense_Mutation_p.Q11* NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 3079 Interaction with SYNM (By similarity).|WW. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CAAGTTGTTTGAGTCTCGTGG 0.378000 6 32 0 0 1 0 0 DUSP16 80824 broad.mit.edu 37 12 12653598 12653598 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr12:12653598G>C ENST00000228862.2 - 4 1017 c.386C>G c.(385-387)tCt>tGt p.S129C DUSP16_ENST00000298573.4_Intron|DUSP16_ENST00000545864.1_5'UTR NM_030640.2 NP_085143.1 Q9BY84 DUS16_HUMAN dual specificity phosphatase 16 129 Rhodanese. inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive cytoplasmic membrane-bounded vesicle|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3) 26 Prostate(47;0.0687) BRCA - Breast invasive adenocarcinoma(232;0.0203) GAAACAACGAGAGAACTCAGC 0.413000 6 47 0 0 1 0 0 STAT6 6778 broad.mit.edu 37 12 57496615 57496615 + Missense_Mutation SNP C C G rs11172101 TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr12:57496615C>G ENST00000300134.3 - 12 1627 c.1302G>C c.(1300-1302)gaG>gaC p.E434D STAT6_ENST00000556155.1_Missense_Mutation_p.E434D|STAT6_ENST00000454075.3_Missense_Mutation_p.E434D|STAT6_ENST00000537215.2_Missense_Mutation_p.E324D|STAT6_ENST00000543873.2_Missense_Mutation_p.E434D|STAT6_ENST00000538913.2_Missense_Mutation_p.E324D NM_001178078.1|NM_003153.4 NP_001171549.1|NP_003144.3 P42226 STAT6_HUMAN signal transducer and activator of transcription 6, interleukin-4 induced 434 regulation of transcription from RNA polymerase II promoter cytosol|nucleus calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 28 TCCTCACCATCTCAGAGAAGG 0.562000 5 53 0 0 1 0 0 PTPN14 5784 broad.mit.edu 37 1 214543025 214543025 + Nonsense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:214543025G>A ENST00000366956.5 - 17 3240 c.3046C>T c.(3046-3048)Cga>Tga p.R1016* PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 1016 Tyrosine-protein phosphatase. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) CTTTTGGTTCGTCCACCCTCC 0.428000 38 198 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12958754 12958754 + Missense_Mutation SNP C C A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr19:12958754C>A ENST00000251472.4 + 7 696 c.657C>A c.(655-657)ttC>ttA p.F219L MAST1_ENST00000591495.1_Missense_Mutation_p.F215L NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 219 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 TGCTCAGCTTCATCCACCACC 0.617000 OREG0025277 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 23 0.184627 0.184627 1 1 0 ARHGEF25 115557 broad.mit.edu 37 12 58008163 58008163 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr12:58008163G>A ENST00000286494.4 + 7 1166 c.706G>A c.(706-708)Gct>Act p.A236T AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.A275T|AC025165.8_ENST00000444467.1_RNA NM_182947.3 NP_891992.2 Q86VW2 ARHGP_HUMAN Rho guanine nucleotide exchange factor (GEF) 25 236 DH. regulation of Rho protein signal transduction cytosol|plasma membrane|sarcomere Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 28 TGATTGGCTGGCTCAGCTATT 0.547000 15 92 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15983977 15983977 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr17:15983977G>A ENST00000268712.3 - 24 3499 c.3242C>T c.(3241-3243)cCg>cTg p.P1081L NCOR1_ENST00000395851.1_Missense_Mutation_p.P1097L NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1081 Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding p.P1081L(1)|p.P1081Q(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TCCCACTGACGGCTTGGGTGT 0.403000 9 72 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27799764 27799764 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:27799764C>G ENST00000408964.2 + 1 376 c.325C>G c.(325-327)Cca>Gca p.P109A NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 109 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) GGAGCAAACTCCAAGAACAAA 0.408000 10 79 0 0 1 0 0 PPAP2A 8611 broad.mit.edu 37 5 54721830 54721830 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr5:54721830C>T ENST00000307259.8 - 5 1007 c.587G>A c.(586-588)aGa>aAa p.R196K PPAP2A_ENST00000264775.5_Missense_Mutation_p.R197K NM_003711.2 NP_003702.2 O14494 LPP1_HUMAN phosphatidic acid phosphatase type 2A 196 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process integral to plasma membrane|membrane fraction phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1) 9 Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544) GCGTAAGAGTCTTGCCCAGTC 0.378000 13 98 0 0 1 0 0 CEP85 64793 broad.mit.edu 37 1 26595006 26595006 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:26595006G>C ENST00000252992.4 + 8 1505 c.1374G>C c.(1372-1374)ttG>ttC p.L458F CEP85_ENST00000451429.2_Missense_Mutation_p.L407F NM_022778.2 NP_073615.2 Q6P2H3 CEP85_HUMAN centrosomal protein 85kDa 458 centrosome|nucleolus|spindle pole breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2) 25 TCAATAATTTGAAAAAGAAAT 0.478000 12 50 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9063171 9063171 + Silent SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr5:9063171C>T ENST00000382496.5 - 18 3011 c.2346G>A c.(2344-2346)acG>acA p.T782T NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 782 cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 CCCCGTTGACCGTGTGGGCAG 0.562000 3 28 0 0 1 0 0 DLGAP1 9229 broad.mit.edu 37 18 3814187 3814187 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr18:3814187G>C ENST00000315677.3 - 5 1639 c.1044C>G c.(1042-1044)atC>atG p.I348M DLGAP1_ENST00000400145.2_Missense_Mutation_p.I46M|DLGAP1_ENST00000534970.1_Missense_Mutation_p.I60M|DLGAP1_ENST00000581527.1_Missense_Mutation_p.I348M|DLGAP1_ENST00000515196.2_Missense_Mutation_p.I348M|DLGAP1_ENST00000400147.2_Missense_Mutation_p.I46M|DLGAP1_ENST00000400149.3_Missense_Mutation_p.I56M|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000539435.1_Missense_Mutation_p.I46M|DLGAP1_ENST00000400150.3_Missense_Mutation_p.I54M|DLGAP1_ENST00000400155.1_Missense_Mutation_p.I54M|DLGAP1_ENST00000584874.1_Missense_Mutation_p.I348M|DLGAP1_ENST00000581699.1_Missense_Mutation_p.I54M NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 348 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) CCATGGCCTTGATATAACTGC 0.488000 24 115 0 0 1 0 0 SCN7A 6332 broad.mit.edu 37 2 167262275 167262275 + Nonsense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:167262275G>A ENST00000409855.1 - 25 4990 c.4864C>T c.(4864-4866)Cga>Tga p.R1622* NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 1622 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 TCTTGTTTTCGTTTCAAAGTA 0.363000 5 192 0 0 1 0 0 SYCP3 50511 broad.mit.edu 37 12 102131053 102131053 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr12:102131053G>A ENST00000392927.3 - 3 288 c.157C>T c.(157-159)Cgt>Tgt p.R53C SYCP3_ENST00000266743.2_Missense_Mutation_p.R53C|SYCP3_ENST00000392924.1_Missense_Mutation_p.R53C NM_001177948.1|NM_001177949.1|NM_153694.4 NP_001171419.1|NP_001171420.1|NP_710161.1 Q8IZU3 SYCP3_HUMAN synaptonemal complex protein 3 53 cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins nucleus DNA binding endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 TTCTTCCTACGTTTCTCAATG 0.303000 4 161 0 0 1 0 0 QRSL1 55278 broad.mit.edu 37 6 107100173 107100173 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr6:107100173C>T ENST00000369046.4 + 6 751 c.647C>T c.(646-648)tCc>tTc p.S216F QRSL1_ENST00000369044.1_Missense_Mutation_p.S216F NM_018292.4 NP_060762.3 Q9H0R6 QRSL1_HUMAN glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 216 translation ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor endometrium(2)|kidney(1)|large_intestine(4)|lung(4) 11 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248) Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152) BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176) GGCTTAGTTTCCCGTCATGGT 0.448000 8 71 0 0 1 0 0 CSNK1E 1454 broad.mit.edu 37 22 38698965 38698965 + Silent SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr22:38698965C>G ENST00000396832.1 - 4 497 c.237G>C c.(235-237)gtG>gtC p.V79V CSNK1E_ENST00000400206.2_Silent_p.V79V|CSNK1E_ENST00000405675.3_Silent_p.V79V|CSNK1E_ENST00000413574.2_Silent_p.V79V|CSNK1E_ENST00000403904.1_Silent_p.V79V|CSNK1E_ENST00000359867.3_Silent_p.V79V NM_152221.2 NP_689407.1 P49674 KC1E_HUMAN casein kinase 1, epsilon 79 Protein kinase. DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Melanoma(58;0.045) CCATGACCATCACGTTGTAGT 0.617000 8 92 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86591748 86591748 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:86591748C>T ENST00000370571.2 - 3 637 c.271G>A c.(271-273)Gag>Aag p.E91K COL24A1_ENST00000436319.1_Missense_Mutation_p.E91K NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 91 TSP N-terminal. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) AAAGGTGTCTCGATATAAGCA 0.428000 9 71 0 0 1 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16877399 16877399 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr11:16877399G>A ENST00000355661.3 - 5 378 c.368C>T c.(367-369)aCa>aTa p.T123I PLEKHA7_ENST00000448080.2_Missense_Mutation_p.T123I|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.T123I Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 123 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 AGCCGTGGATGTTTCACTGAC 0.537000 28 233 0 0 1 0 0 GALNT3 2591 broad.mit.edu 37 2 166626751 166626751 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:166626751C>T ENST00000392701.3 - 2 1235 c.460G>A c.(460-462)Gca>Aca p.A154T NM_004482.3 NP_004473.2 Q14435 GALT3_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) 154 protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1) 20 CTGTCACTTGCGAAAGCATTA 0.408000 4 94 0 0 1 0 0 NLRP6 171389 broad.mit.edu 37 11 285220 285220 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr11:285220G>C ENST00000534750.1 + 8 2797 c.2592G>C c.(2590-2592)aaG>aaC p.K864N NLRP6_ENST00000312165.5_Missense_Mutation_p.K865N NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 865 cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) AGGCTGTGAAGAGAGCAAAGC 0.612000 4 14 0 0 1 0 0 RETSAT 54884 broad.mit.edu 37 2 85577207 85577207 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:85577207G>C ENST00000295802.4 - 4 867 c.755C>G c.(754-756)tCc>tGc p.S252C RETSAT_ENST00000263854.6_Missense_Mutation_p.S252C|RETSAT_ENST00000457495.2_Missense_Mutation_p.S191C NM_017750.3 NP_060220.3 Q6NUM9 RETST_HUMAN retinol saturase (all-trans-retinol 13,14-reductase) 252 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 30 Vitamin A(DB00162) GAGCTCAGAGGAGGCCCCCAG 0.617000 12 81 0 0 1 0 0 GNPTAB 79158 broad.mit.edu 37 12 102158185 102158185 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr12:102158185G>C ENST00000299314.7 - 13 2772 c.2510C>G c.(2509-2511)tCt>tGt p.S837C NM_024312.4 NP_077288.2 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 837 cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 37 AACAATCAGAGATGGGGGCTT 0.418000 35 191 0 0 1 0 0 MAPK1 5594 broad.mit.edu 37 22 22127164 22127164 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr22:22127164C>T ENST00000215832.6 - 7 1152 c.964G>A c.(964-966)Gag>Aag p.E322K MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K|MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K NM_002745.4 NP_002736.3 P28482 MK01_HUMAN mitogen-activated protein kinase 1 322 activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|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|transcription, DNA-dependent cytosol|nucleoplasm ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity p.E322K(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(54;0.105) all_lung(157;3.89e-05) READ - Rectum adenocarcinoma(21;0.0689) Arsenic trioxide(DB01169) GCTCTTACCTCGTCACTCGGG 0.478000 12 63 0 0 1 0 0 PTPRO 5800 broad.mit.edu 37 12 15673221 15673221 + Silent SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr12:15673221C>T ENST00000281171.4 + 10 2196 c.1866C>T c.(1864-1866)gaC>gaT p.D622D PTPRO_ENST00000348962.2_Silent_p.D622D NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 622 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) GCTGCTGTGACAGCTCTACCA 0.473000 19 102 0 0 1 0 0 MINPP1 9562 broad.mit.edu 37 10 89265160 89265160 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr10:89265160C>G ENST00000371996.4 + 1 529 c.488C>G c.(487-489)tCg>tGg p.S163W MINPP1_ENST00000371994.4_Missense_Mutation_p.S163W NM_004897.4 NP_004888.2 Q9UNW1 MINP1_HUMAN multiple inositol-polyphosphate phosphatase 1 163 bone mineralization|polyphosphate metabolic process endoplasmic reticulum lumen acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2) 5 Colorectal(252;0.122) UCEC - Uterine corpus endometrioid carcinoma (6;0.00123) CGTCTGGCCTCGCTCTTCCCG 0.647000 OREG0020348 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 66 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209108191 209108191 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:209108191C>T ENST00000415913.1 - 6 1039 c.658G>A c.(658-660)Gat>Aat p.D220N IDH1_ENST00000446179.1_Missense_Mutation_p.D220N|IDH1_ENST00000345146.2_Missense_Mutation_p.D220N O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 220 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) AAACGCCCATCATATTTCTTC 0.338000 Mis gliobastoma 11 82 0 0 1 0 0 ACOX1 51 broad.mit.edu 37 17 73947546 73947546 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr17:73947546G>A ENST00000537812.1 - 8 1591 c.943C>T c.(943-945)Cac>Tac p.H315Y ACOX1_ENST00000301608.4_Missense_Mutation_p.H353Y|ACOX1_ENST00000293217.5_Missense_Mutation_p.H353Y NM_001185039.1 NP_001171968.1 Q15067 ACOX1_HUMAN acyl-CoA oxidase 1, palmitoyl 353 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1) 14 TTAATCCGGTGATAGGTCTCC 0.488000 14 111 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13367415 13367415 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr3:13367415C>G ENST00000254508.5 - 33 4606 c.4524G>C c.(4522-4524)tgG>tgC p.W1508C NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1508 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) CCGAGGAGCTCCAGGTTCCTG 0.627000 21 108 0 0 1 0 0 TRIM5 85363 broad.mit.edu 37 11 5701271 5701271 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr11:5701271G>C ENST00000305836.5 - 2 439 c.137C>G c.(136-138)tCc>tGc p.S46C TRIM5_ENST00000380027.1_Missense_Mutation_p.S46C|TRIM5_ENST00000396853.4_Missense_Mutation_p.S46C|TRIM5_ENST00000380034.3_Missense_Mutation_p.S46C|TRIM5_ENST00000396847.3_Missense_Mutation_p.S46C|TRIM5_ENST00000396855.3_Missense_Mutation_p.S46C Q9C035 TRIM5_HUMAN tripartite motif containing 5 46 interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) GTCTAGCATGGACTTCTTGTG 0.557000 17 141 0 0 1 0 0 MRO 83876 broad.mit.edu 37 18 48327852 48327852 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr18:48327852G>A ENST00000428869.2 - 7 710 c.452C>T c.(451-453)tCg>tTg p.S151L MRO_ENST00000588444.1_Intron|MRO_ENST00000436348.2_Missense_Mutation_p.S165L|MRO_ENST00000431965.2_Intron|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000256425.2_Missense_Mutation_p.S151L|MRO_ENST00000398439.3_Missense_Mutation_p.S151L Q9BYG7 MSTRO_HUMAN maestro 151 nucleolus binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2) 10 Colorectal(6;0.0596) Colorectal(21;0.082) AACAAAGGCCGAGTATCTCAG 0.463000 13 298 0 0 1 0 0 MLLT10 8028 broad.mit.edu 37 10 22024158 22024158 + Silent SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr10:22024158C>T ENST00000377072.3 + 22 3345 c.2997C>T c.(2995-2997)ctC>ctT p.L999L MLLT10_ENST00000446906.2_Silent_p.L983L|MLLT10_ENST00000307729.7_Silent_p.L983L|MLLT10_ENST00000377059.3_Silent_p.L983L NM_004641.3 NP_004632.1 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 999 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 CTCAACAGCTCACACCAGTAA 0.363000 T """MLL, PICALM, CDK6""" AL 17 124 0 0 1 0 0 ZNF513 130557 broad.mit.edu 37 2 27601662 27601662 + Missense_Mutation SNP G G T rs149911850 TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:27601662G>T ENST00000323703.6 - 3 669 c.471C>A c.(469-471)ttC>ttA p.F157L ZNF513_ENST00000407879.1_Missense_Mutation_p.F95L|ZNF513_ENST00000491924.1_Intron NM_144631.5 NP_653232.3 Q8N8E2 ZN513_HUMAN zinc finger protein 513 157 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 17 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTGGGACACGAAGGTGCAGA 0.697000 8 36 1.12685e-05 1.15588e-05 1 1 0 TRIP12 9320 broad.mit.edu 37 2 230672975 230672975 + Silent SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:230672975G>A ENST00000283943.5 - 15 2366 c.2188C>T c.(2188-2190)Ctg>Ttg p.L730L TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Silent_p.L433L|TRIP12_ENST00000389044.4_Silent_p.L778L NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 730 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TACCAAATCAGAGATGTCAGT 0.478000 8 73 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43172163 43172163 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr6:43172163C>T ENST00000252050.4 + 21 4309 c.4225C>T c.(4225-4227)Cgg>Tgg p.R1409W CUL9_ENST00000372647.2_Missense_Mutation_p.R1409W|CUL9_ENST00000354495.3_Missense_Mutation_p.R1299W NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 1409 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 AGAGACCTCTCGGAACCCCTT 0.572000 34 170 0 0 1 0 0 DSPP 1834 broad.mit.edu 37 4 88535226 88535226 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr4:88535226C>G ENST00000399271.1 + 5 1532 c.1412C>G c.(1411-1413)tCt>tGt p.S471C DSPP_ENST00000282478.7_Missense_Mutation_p.S471C|RP11-742B18.1_ENST00000506480.1_RNA NM_014208.3 NP_055023.2 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein 471 Asp/Ser-rich. biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) AGTGATGAATCTAATGGCAAT 0.388000 21 94 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 37059261 37059261 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr5:37059261C>T ENST00000282516.8 + 44 8178 c.7679C>T c.(7678-7680)tCt>tTt p.S2560F NIPBL_ENST00000448238.2_Missense_Mutation_p.S2560F NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2560 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TGTGGATTTTCTGATAGGTAA 0.363000 6 54 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156642171 156642171 + Silent SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:156642171C>G ENST00000368223.3 - 4 1941 c.1809G>C c.(1807-1809)gtG>gtC p.V603V NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 603 Tail. ELLKDVEVVRPLEKEAVG -> RAIKGCGGSETSRKRGCR (in Ref. 1; CAA46780). brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTAGAGGTCTCACTACCTCCA 0.398000 7 69 0 0 1 0 0 CIITA 4261 broad.mit.edu 37 16 11010232 11010232 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr16:11010232C>T ENST00000324288.8 + 15 3111 c.2978C>T c.(2977-2979)gCg>gTg p.A993V CIITA_ENST00000381835.5_Missense_Mutation_p.A409V NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 993 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 AGCCTGGATGCGCTGAGTGAG 0.627000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 4 26 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118642244 118642244 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:118642244G>A ENST00000336338.5 - 6 879 c.814C>T c.(814-816)Ctt>Ttt p.L272F NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 272 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GACTGAAGAAGAACTTCCTGC 0.403000 25 199 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161470317 161470317 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr6:161470317C>T ENST00000392142.4 + 3 1161 c.1013C>T c.(1012-1014)tCa>tTa p.S338L MAP3K4_ENST00000366920.2_Missense_Mutation_p.S338L|MAP3K4_ENST00000348824.7_Missense_Mutation_p.S338L|MAP3K4_ENST00000366919.2_Missense_Mutation_p.S338L NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 338 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) GTAGGTTACTCAACACATCAT 0.443000 17 76 0 0 1 0 0 MTBP 27085 broad.mit.edu 37 8 121528344 121528344 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr8:121528344G>C ENST00000305949.1 + 18 2204 c.2159G>C c.(2158-2160)gGa>gCa p.G720A NM_022045.3 NP_071328.2 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 720 Interaction with MDM2 (By similarity). cell cycle arrest p.G720E(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) GTCCCTGACGGAGAAGTTTTA 0.418000 24 104 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 37064094 37064094 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr5:37064094G>A ENST00000448238.2 + 46 8531 c.8063G>A c.(8062-8064)aGg>aAg p.R2688K NIPBL_ENST00000282516.8_Intron Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 844 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) AGGCGGAGGAGGAGTCAACGT 0.418000 7 37 0 0 1 0 0 UBXN7 26043 broad.mit.edu 37 3 196120455 196120455 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr3:196120455C>G ENST00000296328.4 - 4 399 c.325G>C c.(325-327)Gat>Cat p.D109H UBXN7_ENST00000535858.1_5'UTR|UBXN7_ENST00000428095.1_Intron NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 109 protein binding NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 CGGAAACCATCAAAAATTGAA 0.328000 9 97 0 0 1 0 0 IBTK 25998 broad.mit.edu 37 6 82943951 82943951 + Nonsense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr6:82943951G>A ENST00000306270.7 - 3 892 c.343C>T c.(343-345)Caa>Taa p.Q115* IBTK_ENST00000510291.1_Nonsense_Mutation_p.Q115*|IBTK_ENST00000503631.1_Nonsense_Mutation_p.Q115* NM_015525.2 NP_056340.2 Q9P2D0 IBTK_HUMAN inhibitor of Bruton agammaglobulinemia tyrosine kinase 115 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) TCTTTATCTTGAATATACAGA 0.289000 11 73 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156641510 156641510 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:156641510C>T ENST00000368223.3 - 4 2602 c.2470G>A c.(2470-2472)Gag>Aag p.E824K NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 824 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCTAGGATCTCTGTTTCTAAA 0.413000 7 58 0 0 1 0 0 AP2B1 163 broad.mit.edu 37 17 34050652 34050652 + Silent SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr17:34050652G>A ENST00000262325.7 + 21 3301 c.2748G>A c.(2746-2748)ctG>ctA p.L916L AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000312678.8_Silent_p.L930L|AP2B1_ENST00000589344.1_Silent_p.L930L|AP2B1_ENST00000538556.1_Silent_p.L859L|AP2B1_ENST00000592545.1_Silent_p.L892L|AP2B1_ENST00000537622.2_Silent_p.L930L NM_001282.2 NP_001273.1 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 subunit 916 Interaction with ARRB1. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) AGCTGTCACTGAAGTGTAGAG 0.423000 4 61 0 0 1 0 0 SHC1 6464 broad.mit.edu 37 1 154942846 154942846 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:154942846C>T ENST00000448116.2 - 1 377 c.157G>A c.(157-159)Gat>Aat p.D53N SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368453.4_Intron|SHC1_ENST00000368445.5_Missense_Mutation_p.D53N|SHC1_ENST00000368450.1_Intron NM_001130040.1 NP_001123512.1 P29353 SHC1_HUMAN SHC (Src homology 2 domain containing) transforming protein 1 53 activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth cytosol|mitochondrial matrix|Shc-EGFR complex epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) GTGGGACTATCGTCCCCAGGC 0.672000 9 64 0 0 1 0 0 C11orf88 399949 broad.mit.edu 37 11 111386771 111386771 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr11:111386771G>C ENST00000529167.1 + 3 275 c.275G>C c.(274-276)aGa>aCa p.R92T C11orf88_ENST00000332814.6_Missense_Mutation_p.R92T|RP11-794P6.6_ENST00000530283.1_RNA|C11orf88_ENST00000375618.4_Missense_Mutation_p.R92T Q6PI97 CK088_HUMAN chromosome 11 open reading frame 88 92 endometrium(1)|large_intestine(3)|lung(2) 6 CTAGAAAATAGAGACATCTTT 0.318000 11 80 0 0 1 0 0 FAN1 22909 broad.mit.edu 37 15 31210382 31210382 + Silent SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr15:31210382G>A ENST00000362065.4 + 6 2118 c.1827G>A c.(1825-1827)acG>acA p.T609T NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 609 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 CAGCAGCCACGCACATGCTGA 0.468000 Direct reversal of damage 4 120 0 0 1 0 0 RSL1D1 26156 broad.mit.edu 37 16 11940376 11940376 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr16:11940376G>C ENST00000571133.1 - 5 689 c.617C>G c.(616-618)tCt>tGt p.S206C RSL1D1_ENST00000542106.1_5'UTR NM_015659.2 NP_056474.2 O76021 RL1D1_HUMAN ribosomal L1 domain containing 1 206 regulation of protein localization|translation large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome p.S206F(1) NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 15 ACCACTTTTAGAAATGTTTAA 0.323000 13 70 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108196176 108196176 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr11:108196176G>C ENST00000278616.4 + 46 7097 c.6712G>C c.(6712-6714)Gaa>Caa p.E2238Q ATM_ENST00000452508.2_Missense_Mutation_p.E2238Q|C11orf65_ENST00000525729.1_Intron NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2238 FAT. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GATGGAAAAGGAAATGGACAA 0.423000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 12 88 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211473236 211473236 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:211473236C>T ENST00000233072.5 + 19 2540 c.2344C>T c.(2344-2346)Cat>Tat p.H782Y CPS1_ENST00000451903.2_Missense_Mutation_p.H331Y|CPS1_ENST00000430249.2_Missense_Mutation_p.H788Y NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 782 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TGACCGTTTTCATGGAACATC 0.423000 19 97 0 0 1 0 0 ZNF197 10168 broad.mit.edu 37 3 44684657 44684657 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr3:44684657G>A ENST00000396058.1 + 5 2202 c.2035G>A c.(2035-2037)Gaa>Aaa p.E679K ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Missense_Mutation_p.E679K O14709 ZN197_HUMAN zinc finger protein 197 679 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) GAATCTCTATGAATGTAAAGA 0.418000 5 55 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156821767 156821767 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:156821767G>A ENST00000368195.3 - 3 1250 c.854C>T c.(853-855)tCt>tTt p.S285F NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 285 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCCGGGCACAGAGTGCAGGCT 0.642000 7 36 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21757447 21757447 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr7:21757447G>C ENST00000328843.6 + 44 7090 c.7059G>C c.(7057-7059)ttG>ttC p.L2353F DNAH11_ENST00000409508.3_Missense_Mutation_p.L2346F Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2353 AAA 2 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AGGCCAATTTGACTATTCTTT 0.398000 Kartagener syndrome 11 69 0 0 1 0 0 WDR81 124997 broad.mit.edu 37 17 1634467 1634467 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr17:1634467G>A ENST00000409644.1 + 4 4072 c.4072G>A c.(4072-4074)Gac>Aac p.D1358N WDR81_ENST00000446363.1_5'UTR|WDR81_ENST00000419248.1_Missense_Mutation_p.D131N|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Intron|WDR81_ENST00000437219.2_Missense_Mutation_p.D155N|WDR81_ENST00000309182.5_Missense_Mutation_p.D307N NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 131 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GTACCTCTCAGACACCACACT 0.652000 10 49 0 0 1 0 0 SMARCA1 6594 broad.mit.edu 37 X 128642066 128642066 + Missense_Mutation SNP A A C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chrX:128642066A>C ENST00000371122.4 - 7 947 c.818T>G c.(817-819)tTt>tGt p.F273C SMARCA1_ENST00000371123.1_Missense_Mutation_p.F273C|SMARCA1_ENST00000478420.1_5'UTR|SMARCA1_ENST00000371121.3_Missense_Mutation_p.F273C NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 273 Helicase ATP-binding. ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 ATCACGAATAAAAGCAGCCTA 0.274000 6 31 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7636531 7636531 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr17:7636531G>A ENST00000572933.1 + 5 1986 c.526G>A c.(526-528)Ggt>Agt p.G176S DNAH2_ENST00000389173.2_Missense_Mutation_p.G176S|DNAH2_ENST00000570791.1_Missense_Mutation_p.G176S|DNAH2_ENST00000082259.3_Missense_Mutation_p.G176S Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 176 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TCGGCTGCTCGGTGGAGTCTT 0.562000 4 161 0 0 1 0 0 WDSUB1 151525 broad.mit.edu 37 2 160136314 160136314 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr2:160136314G>C ENST00000409990.3 - 3 797 c.541C>G c.(541-543)Ctt>Gtt p.L181V WDSUB1_ENST00000358147.4_Missense_Mutation_p.L181V|WDSUB1_ENST00000409124.1_Missense_Mutation_p.L181V|WDSUB1_ENST00000392796.3_Missense_Mutation_p.L181V|WDSUB1_ENST00000359774.4_Missense_Mutation_p.L181V NM_001128213.1 NP_001121685.1 Q8N9V3 WSDU1_HUMAN WD repeat, sterile alpha motif and U-box domain containing 1 181 ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3) 16 GTAATTCCAAGATCATGTGCT 0.378000 10 62 0 0 1 0 0 GPHA2 170589 broad.mit.edu 37 11 64702545 64702545 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr11:64702545C>T ENST00000279168.2 - 3 260 c.206G>A c.(205-207)cGg>cAg p.R69Q GPHA2_ENST00000532246.1_Missense_Mutation_p.R69Q|GPHA2_ENST00000533257.1_Missense_Mutation_p.R69Q NM_130769.3 NP_570125.1 Q96T91 GPHA2_HUMAN glycoprotein hormone alpha 2 69 extracellular region hormone activity central_nervous_system(1)|endometrium(1)|prostate(1) 3 CACAGAGTACCGAGAAGGGAA 0.622000 27 113 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35733543 35733543 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr13:35733543G>A ENST00000540320.1 + 22 3769 c.3235G>A c.(3235-3237)Gag>Aag p.E1079K NBEA_ENST00000310336.4_Missense_Mutation_p.E1079K|NBEA_ENST00000379939.2_Missense_Mutation_p.E1079K|NBEA_ENST00000400445.3_Missense_Mutation_p.E1079K Q8NFP9 NBEA_HUMAN neurobeachin 1079 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TTTATCACCGGAGACTTTAGT 0.398000 6 45 0 0 1 0 0 TPRG1L 127262 broad.mit.edu 37 1 3545080 3545080 + Silent SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:3545080C>T ENST00000378344.2 + 5 803 c.732C>T c.(730-732)ctC>ctT p.L244L TPRG1L_ENST00000344579.5_Silent_p.L185L NM_182752.3 NP_877429.2 Q5T0D9 TPRGL_HUMAN tumor protein p63 regulated 1-like 244 cell junction|synaptic vesicle p.L244L(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1) 8 all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172) all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201) GCCCCCTGCTCATCGAGACCT 0.532000 5 45 0 0 1 0 0 CHRNB1 1140 broad.mit.edu 37 17 7360041 7360041 + Silent SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr17:7360041G>A ENST00000306071.2 + 11 1572 c.1505G>A c.(1504-1506)tGa>tAa p.*502* CHRNB1_ENST00000536404.2_Silent_p.*430*|CHRNB1_ENST00000575379.1_Silent_p.*38*|CHRNB1_ENST00000576360.1_Silent_p.*381* NM_000747.2 NP_000738.2 P11230 ACHB_HUMAN cholinergic receptor, nicotinic, beta 1 (muscle) 0 behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine binding|receptor activity NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3) 23 Prostate(122;0.157) CCCTTTCCTTGAAGACTGGAG 0.552000 8 65 0 0 1 0 0 TM2D2 83877 broad.mit.edu 37 8 38853766 38853766 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr8:38853766C>T ENST00000456397.2 - 1 286 c.193G>A c.(193-195)Gac>Aac p.D65N TM2D2_ENST00000397070.2_5'UTR|TM2D2_ENST00000522434.1_Intron|TM2D2_ENST00000412303.1_Intron|TM2D2_ENST00000456845.2_Intron NM_078473.2 NP_510882.1 Q9BX73 TM2D2_HUMAN TM2 domain containing 2 65 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;1.5e-07) GAGTGGGGGTCGCCATATTCC 0.642000 6 75 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 37059151 37059151 + Missense_Mutation SNP G G T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr5:37059151G>T ENST00000282516.8 + 44 8068 c.7569G>T c.(7567-7569)atG>atT p.M2523I NIPBL_ENST00000448238.2_Missense_Mutation_p.M2523I NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2523 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) ATTCAGTGATGAAATGTTTGC 0.368000 11 69 2.80697e-09 2.92032e-09 1 1 0 ITPR3 3710 broad.mit.edu 37 6 33638303 33638303 + Silent SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr6:33638303C>G ENST00000374316.5 + 20 3451 c.2391C>G c.(2389-2391)gtC>gtG p.V797V ITPR3_ENST00000605930.1_Silent_p.V797V Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 797 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 TCACGCCGGTCAAGTTTGCCC 0.652000 17 129 0 0 1 0 0 MIR331 442903 broad.mit.edu 37 12 95702245 95702245 + RNA SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr12:95702245G>A ENST00000362302.1 + 0 50 NR_029895.1 AGGGATCCCAGATCAAACCAG 0.502000 3 11 0 0 1 0 0 GUSB 2990 broad.mit.edu 37 7 65435343 65435343 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr7:65435343C>T ENST00000304895.4 - 9 1532 c.1402G>A c.(1402-1404)Gct>Act p.A468T GUSB_ENST00000421103.1_Missense_Mutation_p.A322T|GUSB_ENST00000345660.6_Missense_Mutation_p.A417T NM_000181.3 NP_000172.2 P08236 BGLR_HUMAN glucuronidase, beta 468 glycosaminoglycan catabolic process lysosome beta-glucuronidase activity|cation binding breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1) 20 TTGGTGTGAGCGATCACCATC 0.572000 12 65 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180048648 180048648 + Silent SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr5:180048648C>G ENST00000261937.6 - 13 1992 c.1914G>C c.(1912-1914)ctG>ctC p.L638L FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.L638L|FLT4_ENST00000393347.3_Silent_p.L638L NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 638 Ig-like C2-type 6. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GGGGGATACTCAGGCTGAGCG 0.662000 7 43 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13341014 13341014 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr19:13341014G>A ENST00000360228.5 - 36 5409 c.5410C>T c.(5410-5412)Ctc>Ttc p.L1804F CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Missense_Mutation_p.L1805F NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1805 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GCGACAAAGAGATTCAGCATC 0.572000 4 49 0 0 1 0 0 NAGPA 51172 broad.mit.edu 37 16 5083377 5083377 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr16:5083377C>T ENST00000312251.3 - 2 458 c.439G>A c.(439-441)Gag>Aag p.E147K NAGPA_ENST00000564922.1_5'UTR|RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Missense_Mutation_p.E147K NM_016256.3 NP_057340.2 Q9UK23 NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 147 carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1) 12 N-Acetyl-D-glucosamine(DB00141) CCCAGGCACTCGCCCGAGTTC 0.736000 8 33 0 0 1 0 0 PRPS1 5631 broad.mit.edu 37 X 106882528 106882528 + Silent SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chrX:106882528G>A ENST00000372435.4 + 2 248 c.126G>A c.(124-126)gtG>gtA p.V42V PRPS1_ENST00000543248.1_Silent_p.V42V|PRPS1_ENST00000372419.3_Silent_p.V42V|PRPS1_ENST00000372428.4_5'UTR NM_002764.3 NP_002755.1 P60891 PRPS1_HUMAN phosphoribosyl pyrophosphate synthetase 1 42 5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process cytosol ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 23 ATTGTAGTGTGGAAATTGGTG 0.383000 43 200 0 0 1 0 0 SIRPB2 284759 broad.mit.edu 37 20 1456880 1456880 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr20:1456880C>T ENST00000359801.3 - 5 997 c.961G>A c.(961-963)Gaa>Aaa p.E321K SIRPB2_ENST00000444444.1_Missense_Mutation_p.E223K NM_001122962.1 NP_001116434.1 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 321 integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TTGACATCTTCTTGCCCAGGG 0.597000 20 117 0 0 1 0 0 ARIH2OS 646450 broad.mit.edu 37 3 48956416 48956416 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr3:48956416G>A ENST00000408959.2 - 1 402 c.167C>T c.(166-168)tCg>tTg p.S56L ARIH2_ENST00000356401.4_5'UTR|ARIH2_ENST00000449376.1_5'UTR|ARIH2_ENST00000490095.1_3'UTR NM_001123040.1 NP_001116512.1 ariadne homolog 2 opposite strand CAGCGGCCGCGAGGCCGCAGC 0.761000 3 9 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72191394 72191394 + Nonsense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr14:72191394C>T ENST00000555818.1 + 17 4867 c.4519C>T c.(4519-4521)Cag>Tag p.Q1507* SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.Q1486*|SIPA1L1_ENST00000537413.1_Nonsense_Mutation_p.Q961*|SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.Q1486* NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1507 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) CAGGCGTCATCAGAGCGATGG 0.498000 12 47 0 0 1 0 0 IFT81 28981 broad.mit.edu 37 12 110630482 110630482 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr12:110630482G>C ENST00000242591.5 + 14 2034 c.1528G>C c.(1528-1530)Gag>Cag p.E510Q IFT81_ENST00000552912.1_Missense_Mutation_p.E510Q NM_014055.3 NP_054774.2 Q8WYA0 IFT81_HUMAN intraflagellar transport 81 homolog (Chlamydomonas) 510 cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1) 10 AGTTATAAAAGAGCTACGACA 0.279000 9 66 0 0 1 0 0 PCGF2 7703 broad.mit.edu 37 17 36896596 36896596 + Silent SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr17:36896596G>A ENST00000580830.1 - 4 761 c.60C>T c.(58-60)ctC>ctT p.L20L PCGF2_ENST00000581345.1_Silent_p.L20L|PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000360797.2_Silent_p.L20L|PCGF2_ENST00000585100.1_Silent_p.L20L|PCGF2_ENST00000579882.1_Silent_p.L20L P35227 PCGF2_HUMAN polycomb group ring finger 2 20 negative regulation of transcription from RNA polymerase II promoter PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 10 Breast(7;9.07e-22) ACCCCCCGCAGAGGGCACACA 0.637000 12 132 0 0 1 0 0 C5orf56 441108 broad.mit.edu 37 5 131796262 131796262 + Nonsense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr5:131796262C>T ENST00000337752.2 + 4 228 c.97C>T c.(97-99)Caa>Taa p.Q33* C5orf56_ENST00000407797.1_Intron|C5orf56_ENST00000378953.4_Intron Q8N8D9 CE056_HUMAN chromosome 5 open reading frame 56 33 breast(1)|endometrium(1)|large_intestine(1)|lung(3) 6 agggaatcttcaaactcttct 0.552000 40 244 0 0 1 0 0 AK4 205 broad.mit.edu 37 1 65691775 65691775 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:65691775G>A ENST00000395334.2 + 6 945 c.587G>A c.(586-588)gGa>gAa p.G196E AK4_ENST00000546702.1_Missense_Mutation_p.G144E|AK4_ENST00000545314.1_Missense_Mutation_p.G196E|AK4_ENST00000327299.7_Missense_Mutation_p.G196E NM_001005353.2 NP_001005353.1 P27144 KAD4_HUMAN adenylate kinase 4 196 mitochondrial matrix adenylate kinase activity|ATP binding|GTP binding p.G196K(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1) 9 CAATTTTCCGGAACGGAGACG 0.438000 6 43 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106968853 106968853 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr6:106968853C>G ENST00000369066.3 + 2 3033 c.2546C>G c.(2545-2547)tCt>tGt p.S849C NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 849 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) AAAATCTTTTCTCCTTCTGTG 0.438000 10 77 0 0 1 0 0 RAP2C 57826 broad.mit.edu 37 X 131351188 131351188 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chrX:131351188C>T ENST00000342983.2 - 2 855 c.109G>A c.(109-111)Gaa>Aaa p.E37K RAP2C_ENST00000460462.1_Intron|RP5-842K24.2_ENST00000421483.1_RNA|RAP2C_ENST00000370874.1_Missense_Mutation_p.E37K NM_001271186.1|NM_001271187.1|NM_021183.3 NP_001258115.1|NP_001258116.1|NP_067006.3 Q9Y3L5 RAP2C_HUMAN RAP2C, member of RAS oncogene family 37 negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity recycling endosome membrane GTP binding|GTPase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2) 8 Acute lymphoblastic leukemia(192;0.000127) TAGAAATCTTCAATGGTGGGG 0.493000 59 261 0 0 1 0 0 CLSTN3 9746 broad.mit.edu 37 12 7293930 7293930 + Silent SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr12:7293930C>T ENST00000537408.1 + 8 1990 c.1452C>T c.(1450-1452)ctC>ctT p.L484L CLSTN3_ENST00000266546.6_Silent_p.L472L Q9BQT9 CSTN3_HUMAN calsyntenin 3 472 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 ACCCTGCCCTCATCCATGACA 0.567000 OREG0021650 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 289 0 0 1 0 0 CC2D1A 54862 broad.mit.edu 37 19 14024040 14024040 + Silent SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr19:14024040C>G ENST00000318003.7 + 5 679 c.438C>G c.(436-438)ctC>ctG p.L146L CC2D1A_ENST00000589606.1_Silent_p.L146L NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 146 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) GGCTGGCGCTCTATCAGACAG 0.627000 5 45 0 0 1 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141321381 141321381 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr8:141321381G>A ENST00000389328.4 - 10 1896 c.1882C>T c.(1882-1884)Cca>Tca p.P628S TRAPPC9_ENST00000389327.3_Missense_Mutation_p.P521S|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.P530S NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 530 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 GGCACCGGTGGCAGGGTGAGG 0.592000 5 50 0 0 1 0 0 UHRF1 29128 broad.mit.edu 37 19 4944242 4944242 + RNA SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr19:4944242C>T ENST00000592666.1 + 0 1748 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 1 cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) TCGGCCACATCGTCCTCACAG 0.647000 4 63 0 0 1 0 0 IL31RA 133396 broad.mit.edu 37 5 55155385 55155385 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr5:55155385G>A ENST00000396834.1 + 4 551 c.55G>A c.(55-57)Gca>Aca p.A19T IL31RA_ENST00000359040.5_Missense_Mutation_p.A38T|IL31RA_ENST00000297015.3_5'UTR|IL31RA_ENST00000447346.2_Missense_Mutation_p.A38T|IL31RA_ENST00000396836.2_Missense_Mutation_p.A38T|IL31RA_ENST00000490985.1_5'UTR|IL31RA_ENST00000354961.4_Missense_Mutation_p.A19T NM_001242638.1 NP_001229567.1 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 6 anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) GTGGACCTGGGCACTGTGGAT 0.468000 18 104 0 0 1 0 0 USP15 9958 broad.mit.edu 37 12 62708577 62708577 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr12:62708577G>C ENST00000280377.5 + 4 413 c.355G>C c.(355-357)Gaa>Caa p.E119Q USP15_ENST00000550632.1_3'UTR|USP15_ENST00000312635.6_Missense_Mutation_p.E119Q|USP15_ENST00000353364.3_Missense_Mutation_p.E119Q|USP15_ENST00000393654.3_Missense_Mutation_p.E119Q NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 119 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) TTAGGTGGTTGAACAGGGTAT 0.303000 25 270 0 0 1 0 0 CHDC2 286464 broad.mit.edu 37 X 36162701 36162701 + Missense_Mutation SNP G G T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chrX:36162701G>T ENST00000378660.1 + 11 1472 c.1284G>T c.(1282-1284)aaG>aaT p.K428N CHDC2_ENST00000313548.4_Missense_Mutation_p.K428N calponin homology domain containing 2 tgtttccaaaggagatggatg 0.468000 11 77 2.80697e-09 2.92032e-09 1 1 0 FRMD3 257019 broad.mit.edu 37 9 85863132 85863132 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr9:85863132C>T ENST00000304195.3 - 14 1701 c.1495G>A c.(1495-1497)Gag>Aag p.E499K FRMD3_ENST00000376438.1_Missense_Mutation_p.E499K|FRMD3_ENST00000376434.1_Missense_Mutation_p.E305K|FRMD3_ENST00000328788.1_Missense_Mutation_p.E156K|FRMD3_ENST00000465485.1_5'UTR NM_001244960.1|NM_174938.5 NP_001231889.1|NP_777598.3 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 499 cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 30 TTCAGCTCCTCTTCTTCAGCA 0.483000 23 147 0 0 1 0 0 COL6A1 1291 broad.mit.edu 37 21 47417353 47417353 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr21:47417353G>A ENST00000361866.3 + 21 1531 c.1417G>A c.(1417-1419)Gga>Aga p.G473R NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 473 Triple-helical region. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) TGGCCCTATCGGACCTAAAGG 0.652000 4 83 0 0 1 0 0 IFFO1 25900 broad.mit.edu 37 12 6665011 6665011 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr12:6665011G>A ENST00000336604.4 - 1 226 c.185C>T c.(184-186)gCc>gTc p.A62V IFFO1_ENST00000356896.4_Missense_Mutation_p.A62V|IFFO1_ENST00000396840.2_Missense_Mutation_p.A62V NM_080730.4 NP_542768.2 Q0D2I5 IFFO1_HUMAN intermediate filament family orphan 1 62 intermediate filament central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 20 GGCCATGGCGGCAggcggggc 0.721000 4 91 0 0 1 0 0 TLR7 51284 broad.mit.edu 37 X 12904323 12904323 + Silent SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chrX:12904323C>G ENST00000380659.3 + 3 835 c.696C>G c.(694-696)ctC>ctG p.L232L NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 232 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) AACTATATCTCTACAACAACA 0.358000 13 75 0 0 1 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140710615 140710615 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr5:140710615G>A ENST00000517417.1 + 1 364 c.364G>A c.(364-366)Gaa>Aaa p.E122K PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E122K NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTTGAAGTAGAAATAATTGA 0.418000 22 173 0 0 1 0 0 FAM134C 162427 broad.mit.edu 37 17 40733930 40733930 + Silent SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr17:40733930G>A ENST00000309428.5 - 9 1361 c.1302C>T c.(1300-1302)ccC>ccT p.P434P FAM134C_ENST00000585894.1_Silent_p.P337P|FAM134C_ENST00000543197.1_Silent_p.P239P NM_178126.3 NP_835227.1 Q86VR2 F134C_HUMAN family with sequence similarity 134, member C 434 integral to membrane endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 11 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.134) GGTCTGAACTGGGGGACCGGA 0.602000 9 63 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23557444 23557444 + Silent SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr19:23557444G>A ENST00000300619.7 - 2 358 c.153C>T c.(151-153)ttC>ttT p.F51F ZNF91_ENST00000599743.1_Silent_p.F51F|ZNF91_ENST00000397082.2_Silent_p.F51F NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 51 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CCTTACCCAGGAAGGCCAGGT 0.353000 17 137 0 0 1 0 0 DNHD1 144132 broad.mit.edu 37 11 6524045 6524045 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr11:6524045C>T ENST00000254579.6 + 4 1373 c.809C>T c.(808-810)tCa>tTa p.S270L DNHD1_ENST00000354685.3_Missense_Mutation_p.S270L|DNHD1_ENST00000527990.2_Missense_Mutation_p.S270L NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 270 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) ACCGGCTTTTCACCTGAGACT 0.488000 10 74 0 0 1 0 0 SEC31B 25956 broad.mit.edu 37 10 102249149 102249149 + Missense_Mutation SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr10:102249149C>T ENST00000370345.3 - 23 3128 c.3031G>A c.(3031-3033)Gag>Aag p.E1011K NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 1011 Pro-rich. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) ATAAATGTCTCTGGCAGCTAA 0.517000 6 29 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11468645 11468645 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr7:11468645G>A ENST00000423059.3 - 14 3423 c.3172C>T c.(3172-3174)Cgt>Tgt p.R1058C AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1058 TSP type-1 11. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CATTTAGAACGAACCTTCACA 0.512000 HNSCC(18;0.044) 50 292 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77635394 77635394 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr13:77635394C>G ENST00000407578.2 - 76 13212 c.12946G>C c.(12946-12948)Gaa>Caa p.E4316Q MYCBP2_ENST00000544440.2_Missense_Mutation_p.E4278Q|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E4278Q NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 4278 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CCACAACCTTCATGAAGGTCA 0.373000 9 41 0 0 1 0 0 ASB16 92591 broad.mit.edu 37 17 42248167 42248167 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr17:42248167G>A ENST00000293414.1 + 1 94 c.10G>A c.(10-12)Gag>Aag p.E4K NM_080863.4 NP_543139.4 Q96NS5 ASB16_HUMAN ankyrin repeat and SOCS box containing 16 4 intracellular signal transduction protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1) 14 Breast(137;0.00765)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.114) CATGGCAAGAGAGACCTTCCC 0.682000 15 78 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41027443 41027443 + Nonsense_Mutation SNP G G T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chrX:41027443G>T ENST00000324545.7 + 18 3241 c.2608G>T c.(2608-2610)Gag>Tag p.E870* USP9X_ENST00000378308.2_Nonsense_Mutation_p.E870* NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 870 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 TGATTATCATGAGGAAAGAAC 0.333000 5 72 0.014758 0.0148257 1 1 0 AQP10 89872 broad.mit.edu 37 1 154293656 154293656 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:154293656G>A ENST00000484864.1 + 1 61 c.25G>A c.(25-27)Gaa>Aaa p.E9K AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000324978.3_Missense_Mutation_p.E9K Q96PS8 AQP10_HUMAN aquaporin 10 9 response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1) 23 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GGCCCCGGCTGAAATCATGGG 0.577000 19 77 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16945236 16945239 + RNA DEL TTAT TTAT - TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:16945236_16945239delTTAT ENST00000412962.1 - 0 2280_2283 AGGCATTACCTTATTTAAAGTTCA 0.377 2 4 --- --- --- --- MST1L 11223 broad.mit.edu 37 1 17085255 17085255 + RNA DEL A A - rs2281029 by1000genomes TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr1:17085255delA ENST00000455405.2 - 0 70 TTTGGTGGTGAGGGCTGAGGT 0.592 7 99 --- --- --- --- HLA-DRB6 3128 broad.mit.edu 37 6 32521545 32521546 + RNA INS - - AAGG rs144810212 by1000genomes TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr6:32521545_32521546insAAGG ENST00000411500.1 - 0 851 NR_001298.1 TTGGGGAAAGACTTTATCCAGG 0.436 2 4 --- --- --- --- KRT17P1 147228 broad.mit.edu 37 17 16748911 16748913 + RNA DEL GCT GCT - TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 192620fa-c6da-49f2-8753-6a0a1f41521c e89d8f33-a7bb-4bcd-9505-7debd21d6aef g.chr17:16748911_16748913delGCT ENST00000580363.1 - 0 282_284 lung(4) 4 CGCCCTCAAAGCTGCTGCTGCCA 0.650 2 4 --- --- --- ---