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 ZFC3H1 196441 broad.mit.edu 37 12 72030288 72030288 + Silent SNP A A G TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr12:72030288A>G ENST00000378743.3 - 9 2440 c.2082T>C c.(2080-2082)ctT>ctC p.L694L NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 694 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 CAGTTCGTGGAAGACGGGGTC 0.373000 23 41 0 0 1 0 0 DDX10 1662 broad.mit.edu 37 11 108593995 108593995 + Missense_Mutation SNP G G C TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr11:108593995G>C ENST00000526794.1 + 13 1803 c.1771G>C c.(1771-1773)Gaa>Caa p.E591Q DDX10_ENST00000322536.3_Missense_Mutation_p.E591Q Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 591 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) cgatgaagaagaaATGGAAGA 0.428000 T NUP98 AML* 9 8 0 0 1 0 0 ZNF821 55565 broad.mit.edu 37 16 71894426 71894426 + Missense_Mutation SNP C C T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr16:71894426C>T ENST00000425432.1 - 8 1113 c.734G>A c.(733-735)cGt>cAt p.R245H ZNF821_ENST00000446827.2_Missense_Mutation_p.R203H|ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000564134.1_3'UTR|ZNF821_ENST00000565601.1_Missense_Mutation_p.R245H|ZNF821_ENST00000313565.6_Missense_Mutation_p.R203H NM_001201552.1 NP_001188481.1 O75541 ZN821_HUMAN zinc finger protein 821 245 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2) 13 CAGCAGTTTACGGTAGGCAGC 0.557000 4 69 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32868660 32868660 + Silent SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr13:32868660G>A ENST00000380250.3 + 60 9232 c.8736G>A c.(8734-8736)ctG>ctA p.L2912L FRY_ENST00000542859.1_Silent_p.L282L|FRY_ENST00000380217.1_Silent_p.L94L NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2912 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TGGAGTGCCTGAAGAACAACG 0.547000 19 22 0 0 1 0 0 AVPR2 554 broad.mit.edu 37 X 153172088 153172088 + Missense_Mutation SNP G G T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chrX:153172088G>T ENST00000358927.2 + 4 1231 c.1022G>T c.(1021-1023)tGc>tTc p.C341F AVPR2_ENST00000337474.5_Missense_Mutation_p.C341F|AVPR2_ENST00000370049.1_3'UTR P30518 V2R_HUMAN arginine vasopressin receptor 2 341 activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane vasopressin receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 26 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067) AGCTTGCTCTGCTGTGCCCGG 0.617000 12 64 0.00010058 0.000101331 1 1 0 KANK2 25959 broad.mit.edu 37 19 11285369 11285369 + Splice_Site SNP C C T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr19:11285369C>T ENST00000432929.2 - 9 2233 c.e9-1 KANK2_ENST00000355150.5_Splice_Site|KANK2_ENST00000586659.1_Splice_Site|KANK2_ENST00000589359.1_Splice_Site|KANK2_ENST00000589894.1_Splice_Site NM_001136191.2 NP_001129663.1 Q63ZY3 KANK2_HUMAN KN motif and ankyrin repeat domains 2 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 AGGCCACTTTCTGCATGCGAG 0.697000 3 8 0 0 1 0 0 WNT11 7481 broad.mit.edu 37 11 75907584 75907584 + Missense_Mutation SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr11:75907584G>A ENST00000322563.3 - 2 386 c.262C>T c.(262-264)Cgc>Tgc p.R88C NM_004626.2 NP_004617.2 O96014 WNT11_HUMAN wingless-type MMTV integration site family, member 11 88 adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 CAGTTCCAGCGCATGTCGGCA 0.632000 4 70 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65267658 65267658 + RNA SNP T T A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr11:65267658T>A ENST00000534336.1 + 0 2426 NR_002819.2 TGGTGTAATTTAAAAAAAACT 0.343000 4 8 0 0 1 0 0 KIAA1598 57698 broad.mit.edu 37 10 118713581 118713581 + Silent SNP G G C TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr10:118713581G>C ENST00000355371.4 - 5 905 c.408C>G c.(406-408)gtC>gtG p.V136V KIAA1598_ENST00000260777.10_Silent_p.V136V|KIAA1598_ENST00000392903.2_Silent_p.V136V|KIAA1598_ENST00000392901.4_Silent_p.V76V|KIAA1598_ENST00000497044.1_5'UTR NM_001127211.2|NM_001258298.1|NM_001258299.1 NP_001120683.1|NP_001245227.1|NP_001245228.1 A0MZ66 SHOT1_HUMAN KIAA1598 136 axon guidance axon endometrium(1)|kidney(1)|large_intestine(5)|lung(3) 10 all cancers(201;0.00494) ACTGTACTGAGACACAAGTCT 0.418000 38 28 0 0 1 0 0 MIR329-1 574408 broad.mit.edu 37 14 101493161 101493161 + RNA SNP A A T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr14:101493161A>T ENST00000385028.1 + 0 40 NR_029967.1 TGTTTCTTTAATGAGGACGAA 0.468000 4 146 0 0 1 0 0 AGTR2 186 broad.mit.edu 37 X 115304054 115304054 + Missense_Mutation SNP C C T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chrX:115304054C>T ENST00000371906.4 + 3 711 c.521C>T c.(520-522)tCc>tTc p.S174F NM_000686.4 NP_000677.2 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 174 behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 GCCTGTTTGTCCTCATTGCCA 0.423000 44 93 0 0 1 0 0 PAX3 5077 broad.mit.edu 37 2 223158461 223158461 + Missense_Mutation SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr2:223158461G>A ENST00000258387.5 - 5 851 c.602C>T c.(601-603)tCc>tTc p.S201F PAX3_ENST00000344493.4_Intron|PAX3_ENST00000409551.3_Intron|PAX3_ENST00000336840.6_Intron|PAX3_ENST00000350526.4_Intron|PAX3_ENST00000392070.2_Intron|PAX3_ENST00000409828.3_3'UTR|PAX3_ENST00000392069.2_Intron NM_013942.4 NP_039230.1 P23760 PAX3_HUMAN paired box 3 0 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749) NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 38 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGAAACTCCGGAGACCAGGGC 0.493000 T """FOXO1A, NCOA1""" alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 64 73 0 0 1 0 0 BRIP1 83990 broad.mit.edu 37 17 59760893 59760893 + Missense_Mutation SNP C C T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr17:59760893C>T ENST00000259008.2 - 20 3781 c.3514G>A c.(3514-3516)Gaa>Aaa p.E1172K NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 1172 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 GTTCTAATTTCAAAAAGGTCT 0.328000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 90 11 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12443051 12443051 + Missense_Mutation SNP C C T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr1:12443051C>T ENST00000358136.3 + 58 11337 c.11207C>T c.(11206-11208)tCt>tTt p.S3736F VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.S3711F NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3735 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) GGAGGACTTTCTGGTTTGTTT 0.408000 19 66 0 0 1 0 0 KANK2 25959 broad.mit.edu 37 19 11285341 11285341 + Missense_Mutation SNP C C T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr19:11285341C>T ENST00000432929.2 - 9 2260 c.1900G>A c.(1900-1902)Gag>Aag p.E634K KANK2_ENST00000355150.5_Missense_Mutation_p.E626K|KANK2_ENST00000586659.1_Missense_Mutation_p.E626K|KANK2_ENST00000589359.1_Missense_Mutation_p.E634K|KANK2_ENST00000589894.1_Missense_Mutation_p.E626K NM_001136191.2 NP_001129663.1 Q63ZY3 KANK2_HUMAN KN motif and ankyrin repeat domains 2 626 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 CGCAGCCACTCCTGCAGCACT 0.692000 6 9 0 0 1 0 0 CPXCR1 53336 broad.mit.edu 37 X 88009143 88009143 + Missense_Mutation SNP A A C TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chrX:88009143A>C ENST00000276127.4 + 3 987 c.728A>C c.(727-729)cAa>cCa p.Q243P CPXCR1_ENST00000373111.1_Missense_Mutation_p.Q243P NM_033048.5 NP_149037 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 243 intracellular zinc ion binding NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2) 40 TCACAGATACAAATTGAAAGT 0.328000 12 13 0 0 1 0 0 HLA-C 3107 broad.mit.edu 37 6 31238864 31238864 + Missense_Mutation SNP G G A rs17413685 TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr6:31238864G>A ENST00000383329.3 - 3 619 c.605C>T c.(604-606)aCg>aTg p.T202M HLA-C_ENST00000376228.5_Missense_Mutation_p.T202M Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 202 Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 GCGCTGCAGCGTCTCCTTCCC 0.657000 4 54 0 0 1 0 0 UNC13A 23025 broad.mit.edu 37 19 17735639 17735639 + Splice_Site SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr19:17735639G>A ENST00000428389.2 - 36 4459 c.4460C>T c.(4459-4461)aCg>aTg p.T1487M UNC13A_ENST00000551649.1_Splice_Site_p.T1399M|UNC13A_ENST00000252773.7_Splice_Site_p.T1399M|UNC13A_ENST00000550896.1_Splice_Site_p.T1397M|UNC13A_ENST00000519716.2_Splice_Site_p.T1399M|UNC13A_ENST00000552293.1_Splice_Site_p.T1399M Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 1399 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 AGGTCTCACCGTCTGGTCAGT 0.582000 5 14 0 0 1 0 0 ALDH9A1 223 broad.mit.edu 37 1 165638534 165638534 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr1:165638534G>A ENST00000354775.4 - 7 1388 c.1084C>T c.(1084-1086)Cga>Tga p.R362* ALDH9A1_ENST00000538148.1_Nonsense_Mutation_p.R268* NM_000696.3 NP_000687.3 P49189 AL9A1_HUMAN aldehyde dehydrogenase 9 family, member A1 338 carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process cytosol|plasma membrane 3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 21 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) NADH(DB00157) CCAAGGACTCGCTCCAGGTGT 0.463000 46 58 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37879658 37879658 + Missense_Mutation SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr17:37879658G>A ENST00000406381.2 + 19 2453 c.1943G>A c.(1942-1944)cGg>cAg p.R648Q ERBB2_ENST00000269571.5_Missense_Mutation_p.R678Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.R663Q|ERBB2_ENST00000445658.2_Missense_Mutation_p.R402Q|ERBB2_ENST00000584450.1_Missense_Mutation_p.R678Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.R648Q|ERBB2_ENST00000540147.1_Missense_Mutation_p.R648Q NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 678 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) ATCAAGCGACGGCAGCAGAAG 0.637000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 3 43 0 0 1 0 0 SLC9A8 23315 broad.mit.edu 37 20 48500541 48500541 + Missense_Mutation SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr20:48500541G>A ENST00000417961.1 + 14 1687 c.1477G>A c.(1477-1479)Gag>Aag p.E493K SLC9A8_ENST00000361573.2_Missense_Mutation_p.E477K|SLC9A8_ENST00000541138.1_Missense_Mutation_p.E177K|SLC9A8_ENST00000539601.1_Missense_Mutation_p.E258K NM_001260491.1|NM_015266.2 NP_001247420.1|NP_056081.1 Q9Y2E8 SL9A8_HUMAN solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 477 Golgi membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) CATGGACATCGAGGACGCCAA 0.612000 17 59 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44833960 44833960 + Splice_Site SNP G G T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chrX:44833960G>T ENST00000377967.4 + 4 425 c.384G>T c.(382-384)aaG>aaT p.K128N KDM6A_ENST00000543216.1_Splice_Site_p.K128N|KDM6A_ENST00000536777.1_Splice_Site_p.K128N|KDM6A_ENST00000382899.4_Splice_Site_p.K128N NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 128 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0(14)|p.0?(6)|p.?(1) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 ACTACTGGAAGGTTAGTGTAC 0.318000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 21 48 2.89027e-11 3.07233e-11 1 1 0 DCAF12L2 340578 broad.mit.edu 37 X 125299768 125299768 + Missense_Mutation SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chrX:125299768G>A ENST00000538699.1 - 2 220 c.140C>T c.(139-141)aCg>aTg p.T47M DCAF12L2_ENST00000360028.2_Missense_Mutation_p.T47M NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 47 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 CCTGCGACGCGTCGCCGGCCG 0.736000 6 19 0 0 1 0 0 ZNF441 126068 broad.mit.edu 37 19 11892519 11892519 + Nonsense_Mutation SNP C C G TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr19:11892519C>G ENST00000357901.4 + 4 1982 c.1880C>G c.(1879-1881)tCa>tGa p.S627* ZNF441_ENST00000454339.2_Nonsense_Mutation_p.S560* NM_152355.2 NP_689568.2 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 627 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TTCAGTCATTCAAGTTACTTA 0.403000 20 31 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229749 140229749 + Missense_Mutation SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr5:140229749G>A ENST00000378122.3 + 1 2393 c.1669G>A c.(1669-1671)Gac>Aac p.D557N PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.D557N|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTCGTGCTGGACGAGAACGA 0.687000 26 85 0 0 1 0 0 SPON1 10418 broad.mit.edu 37 11 14277229 14277229 + RNA SNP C C T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr11:14277229C>T ENST00000310358.7 + 0 1664 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GGAGAAAATCCGGCCCCTGAC 0.493000 25 49 0 0 1 0 0 PODXL2 50512 broad.mit.edu 37 3 127390288 127390288 + Missense_Mutation SNP G G C TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr3:127390288G>C ENST00000342480.6 + 7 1476 c.1437G>C c.(1435-1437)caG>caC p.Q479H NM_015720.2 NP_056535.1 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 479 leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 26 TTGGCATCCAGAACTATTCCA 0.642000 14 31 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 3 7 2.56e-06 2.61818e-06 1 1 0 ZNF423 23090 broad.mit.edu 37 16 49671201 49671201 + Missense_Mutation SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr16:49671201G>A ENST00000561648.1 - 4 1915 c.1862C>T c.(1861-1863)tCa>tTa p.S621L ZNF423_ENST00000535559.1_Missense_Mutation_p.S504L|ZNF423_ENST00000562871.1_Missense_Mutation_p.S561L|ZNF423_ENST00000563137.2_Missense_Mutation_p.S561L|ZNF423_ENST00000567169.1_Missense_Mutation_p.S504L|ZNF423_ENST00000262383.2_Missense_Mutation_p.S621L|ZNF423_ENST00000562520.1_Missense_Mutation_p.S561L NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 621 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.S621L(2) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) GGCGCTTGCTGAGAGCCGCTG 0.567000 21 36 0 0 1 0 0 G2E3 55632 broad.mit.edu 37 14 31074778 31074778 + Nonsense_Mutation SNP A A T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr14:31074778A>T ENST00000206595.6 + 11 1232 c.1078A>T c.(1078-1080)Aaa>Taa p.K360* G2E3_ENST00000438909.2_Nonsense_Mutation_p.K314*|G2E3_ENST00000544007.1_Intron|G2E3_ENST00000553504.1_Nonsense_Mutation_p.K390* NM_017769.3 NP_060239.2 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin protein ligase 360 apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 AATTAAAAAAAAAACTAAAAG 0.284000 6 12 0 0 1 0 0 ZNF160 90338 broad.mit.edu 37 19 53577475 53577475 + Silent SNP C C T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr19:53577475C>T ENST00000601421.1 - 2 957 c.81G>A c.(79-81)ggG>ggA p.G27G ZNF160_ENST00000355147.5_Silent_p.G63G|ZNF160_ENST00000599056.1_Silent_p.G63G|ZNF160_ENST00000429604.1_Silent_p.G63G|ZNF160_ENST00000418871.1_Silent_p.G63G Q9HCG1 ZN160_HUMAN zinc finger protein 160 63 KRAB. hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G63G(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) AGGGCTCTTTCCCTTCCTCCA 0.458000 28 39 0 0 1 0 0 TRPM4 54795 broad.mit.edu 37 19 49671814 49671814 + Missense_Mutation SNP C C T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr19:49671814C>T ENST00000252826.5 + 6 743 c.617C>T c.(616-618)tCg>tTg p.S206L TRPM4_ENST00000355712.5_5'UTR|TRPM4_ENST00000427978.2_Missense_Mutation_p.S206L NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 206 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CCCTAGGGCTCGTTCCCTGCG 0.647000 19 22 0 0 1 0 0 CYC1 1537 broad.mit.edu 37 8 145150823 145150823 + Missense_Mutation SNP G G C TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr8:145150823G>C ENST00000318911.4 + 2 290 c.217G>C c.(217-219)Ggg>Cgg p.G73R NM_001916.3 NP_001907 P08574 CY1_HUMAN cytochrome c-1 73 respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 15 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-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;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AGGGGGTGCGGGGCTGGCCAT 0.647000 OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 75 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33139508 33139508 + Silent SNP T T A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr6:33139508T>A ENST00000341947.2 - 42 3359 c.3132A>T c.(3130-3132)gcA>gcT p.A1044A COL11A2_ENST00000395197.1_Silent_p.A984A|COL11A2_ENST00000374714.1_Silent_p.A1018A|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Silent_p.A997A|COL11A2_ENST00000374708.4_Silent_p.A958A|COL11A2_ENST00000374712.1_Silent_p.A963A|COL11A2_ENST00000361917.1_Silent_p.A937A|COL11A2_ENST00000357486.1_Silent_p.A1023A NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1044 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CTTTCTCTCCTGCTGCTCCAG 0.642000 7 18 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857026 19857026 + RNA SNP C C G TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr14:19857026C>G ENST00000548109.1 + 0 72 TCTCAGCATCCTGGATAATAA 0.378000 12 76 0 0 1 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38205204 38205204 + Missense_Mutation SNP C C G TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr8:38205204C>G ENST00000317025.8 - 2 1003 c.486G>C c.(484-486)caG>caC p.Q162H WHSC1L1_ENST00000527502.1_Missense_Mutation_p.Q162H|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.Q162H|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.Q162H NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 162 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) CCCTGCCATTCTGGATAGTTT 0.428000 T NUP98 AML 103 18 0 0 1 0 0 RAD1 5810 broad.mit.edu 37 5 34908976 34908976 + Missense_Mutation SNP C C G TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr5:34908976C>G ENST00000382038.2 - 6 2162 c.743G>C c.(742-744)aGa>aCa p.R248T RAD1_ENST00000341754.4_Missense_Mutation_p.R248T NM_002853.3 NP_002844.1 O60671 RAD1_HUMAN RAD1 homolog (S. pombe) 248 DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I nucleoplasm 3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1) 10 all_lung(31;0.000107) Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) AAGGAAGCCTCTGTTATCTGT 0.358000 Other conserved DNA damage response genes 55 77 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 977982 977982 + Missense_Mutation SNP G G C TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr12:977982G>C ENST00000537687.1 + 9 3733 c.3090G>C c.(3088-3090)ttG>ttC p.L1030F WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.L329F|WNK1_ENST00000530271.2_Missense_Mutation_p.L1115F NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 786 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CCCCAGAATTGACCGTTTCTG 0.453000 18 53 0 0 1 0 0 PDE6G 5148 broad.mit.edu 37 17 79618682 79618682 + Silent SNP C C G TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr17:79618682C>G ENST00000573076.1 - 3 805 c.330G>C c.(328-330)ctG>ctC p.L110L PDE6G_ENST00000571224.1_Silent_p.L60L|PDE6G_ENST00000331056.5_Silent_p.L60L|PDE6G_ENST00000571004.1_Silent_p.L60L|PDE6G_ENST00000574777.1_5'UTR P18545 CNRG_HUMAN phosphodiesterase 6G, cGMP-specific, rod, gamma 60 platelet activation|visual perception cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity lung(2)|urinary_tract(1) 3 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) TACCTGTTCCCAGGCCTTCCA 0.677000 15 13 0 0 1 0 0 GAS2L1P2 340508 broad.mit.edu 37 9 99838792 99838792 + RNA SNP G G C TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr9:99838792G>C ENST00000442849.2 - 0 1422 NR_002942.1 GAGAATGAGGGATGAAGAGGA 0.612000 4 3 0 0 1 0 0 LVRN 206338 broad.mit.edu 37 5 115298620 115298620 + Silent SNP C C T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr5:115298620C>T ENST00000357872.4 + 1 430 c.306C>T c.(304-306)ctC>ctT p.L102L AQPEP_ENST00000395528.2_5'UTR NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 102 proteolysis integral to membrane metallopeptidase activity|zinc ion binding CGCCCTGGCTCGTGCCGCTGC 0.701000 18 25 0 0 1 0 0 SLC47A2 146802 broad.mit.edu 37 17 19619812 19619812 + Silent SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr17:19619812G>A ENST00000350657.5 - 1 231 c.57C>T c.(55-57)ctC>ctT p.L19L SLC47A2_ENST00000463318.1_Intron|SLC47A2_ENST00000325411.5_Silent_p.L19L NM_001099646.1|NM_001256663.1 NP_001093116.1|NP_001243592.1 Q86VL8 S47A2_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 2 19 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1) 9 all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245) CCAGCCTGCTGAGGGCAGGGC 0.652000 5 5 0 0 1 0 0 CYP51A1 1595 broad.mit.edu 37 7 91758214 91758214 + Missense_Mutation SNP C C T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr7:91758214C>T ENST00000003100.8 - 3 613 c.448G>A c.(448-450)Gca>Aca p.A150T LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Missense_Mutation_p.A45T NM_000786.3 NP_000777.1 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, polypeptide 1 144 cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1) 10 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) ACATCGTATGCAACTCCCTTC 0.388000 50 151 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144895693 144895693 + Silent SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr8:144895693G>A ENST00000356994.2 - 5 456 c.450C>T c.(448-450)ctC>ctT p.L150L SCRIB_ENST00000377533.3_Silent_p.L69L|SCRIB_ENST00000320476.3_Silent_p.L150L NM_182706.4 NP_874365 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 150 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CCAGGTTGGCGAGGCTGAAAG 0.642000 6 49 0 0 1 0 0 SLC27A2 11001 broad.mit.edu 37 15 50518205 50518205 + Silent SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr15:50518205G>A ENST00000267842.5 + 6 1420 c.1188G>A c.(1186-1188)ctG>ctA p.L396L SLC27A2_ENST00000544960.1_Silent_p.L161L|SLC27A2_ENST00000380902.4_Silent_p.L343L NM_003645.3 NP_003636.2 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid transporter), member 2 396 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) CTTATGACCTGATTAAATATG 0.308000 20 23 0 0 1 0 0 LIPJ 142910 broad.mit.edu 37 10 90351165 90351165 + Missense_Mutation SNP G G C TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr10:90351165G>C ENST00000371939.3 + 4 354 c.40G>C c.(40-42)Gat>Cat p.D14H NM_001010939.2 NP_001010939.2 Q5W064 LIPJ_HUMAN lipase, family member J 14 lipid catabolic process hydrolase activity large_intestine(4)|lung(4)|ovary(1) 9 all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222) Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05) GGGCTACCCTGATGAAGAATA 0.323000 30 33 0 0 1 0 0 DUS1L 64118 broad.mit.edu 37 17 80017830 80017830 + Missense_Mutation SNP G G C TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr17:80017830G>C ENST00000354321.7 - 10 1647 c.1162C>G c.(1162-1164)Ctg>Gtg p.L388V DUS1L_ENST00000306796.5_Missense_Mutation_p.L388V Q6P1R4 DUS1L_HUMAN dihydrouridine synthase 1-like (S. cerevisiae) 388 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1) 6 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) TTACGCTTCAGAGAGGGGTCG 0.592000 28 110 0 0 1 0 0 RNASE11 122651 broad.mit.edu 37 14 21052598 21052598 + Silent SNP G G A rs112127139 TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr14:21052598G>A ENST00000610205.1 - 3 219 c.36C>T c.(34-36)ggC>ggT p.G12G RNASE11_ENST00000398008.2_Silent_p.G12G|RNASE11_ENST00000398009.2_Silent_p.G12G|RNASE11_ENST00000432835.2_Silent_p.G12G|RNASE11_ENST00000553849.1_Silent_p.G12G|RNASE11_ENST00000555283.1_Silent_p.G63G|RNASE11_ENST00000555841.1_Silent_p.G12G NM_145250.3 NP_660293.1 Q8TAA1 RNS11_HUMAN ribonuclease, RNase A family, 11 (non-active) extracellular region nucleic acid binding|pancreatic ribonuclease activity endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_cancers(95;0.00238) all_lung(585;0.235) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.0139) CAAGAACCAGGCCCAGGCTGA 0.383000 22 49 0 0 1 0 0 HLA-DRB6 3128 broad.mit.edu 37 6 32522452 32522452 + RNA SNP C C T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr6:32522452C>T ENST00000411500.1 - 0 740 NR_001298.1 TTTATGAAGTCAGAAAGCTGC 0.493000 8 26 0 0 1 0 0 DCLRE1B 64858 broad.mit.edu 37 1 114454209 114454209 + Missense_Mutation SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr1:114454209G>A ENST00000369563.3 + 4 1441 c.995G>A c.(994-996)aGa>aAa p.R332K DCLRE1B_ENST00000466480.1_3'UTR NM_022836.3 NP_073747.1 Q9H816 DCR1B_HUMAN DNA cross-link repair 1B 332 cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation centrosome|chromosome, telomeric region|nucleus 5'-3' exonuclease activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1) 18 Lung SC(450;0.184) all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCTTCCTCTAGAAAACCAAGC 0.522000 Other identified genes with known or suspected DNA repair function 14 47 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138554445 138554445 + Silent SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr7:138554445G>A ENST00000440172.1 - 14 4662 c.4614C>T c.(4612-4614)cgC>cgT p.R1538R KIAA1549_ENST00000422774.1_Silent_p.R1538R|KIAA1549_ENST00000242365.4_Silent_p.R1488R NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 1538 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 GGCGCTTGGCGCGCAGGCGGA 0.622000 O BRAF pilocytic astrocytoma 5 20 0 0 1 0 0 ITIH5 80760 broad.mit.edu 37 10 7611659 7611659 + Silent SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr10:7611659G>A ENST00000256861.6 - 12 2199 c.2121C>T c.(2119-2121)ctC>ctT p.L707L ITIH5_ENST00000446830.2_Silent_p.L489L|ITIH5_ENST00000298441.6_Silent_p.L493L|ITIH5_ENST00000397146.2_Intron NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 707 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 AGACCAGCCTGAGGATGTCCC 0.562000 8 32 0 0 1 0 0 CEP290 80184 broad.mit.edu 37 12 88500580 88500580 + Missense_Mutation SNP T T A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr12:88500580T>A ENST00000552810.1 - 25 3032 c.2689A>T c.(2689-2691)Ata>Tta p.I897L CEP290_ENST00000309041.7_Missense_Mutation_p.I899L|CEP290_ENST00000397838.3_5'UTR NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 897 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 TATTGCCTTATAAGTGATTTT 0.328000 7 10 0 0 1 0 0 FAM127C 441518 broad.mit.edu 37 X 134156399 134156399 + Missense_Mutation SNP C C T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chrX:134156399C>T ENST00000391440.1 - 1 160 c.91G>A c.(91-93)Gag>Aag p.E31K NM_001078173.1 NP_001071641.1 Q17RB0 F127C_HUMAN family with sequence similarity 127, member C 31 breast(1)|endometrium(2)|large_intestine(1)|lung(2) 6 Acute lymphoblastic leukemia(192;0.000127) TCAAACGTCTCGGGAAAGGGA 0.647000 4 115 0 0 1 0 0 MRPS14 63931 broad.mit.edu 37 1 174987587 174987587 + Silent SNP G G C TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr1:174987587G>C ENST00000476371.1 - 2 187 c.171C>G c.(169-171)ctC>ctG p.L57L NM_022100.2 NP_071383.1 O60783 RT14_HUMAN mitochondrial ribosomal protein S14 57 translation mitochondrial ribosome protein binding|structural constituent of ribosome large_intestine(2)|lung(5)|pancreas(1)|prostate(2) 10 TATTCTTCCTGAGTGAATTAA 0.388000 30 62 0 0 1 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713156 70713156 + RNA SNP G G A rs11629177 by1000genomes TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr14:70713156G>A ENST00000530196.1 - 0 1362 NR_003951.1 TTCCCACAGCGCTTTAGCATA 0.448000 33 50 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116421305 116421305 + Silent SNP C C T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr12:116421305C>T ENST00000281928.3 - 21 4778 c.4572G>A c.(4570-4572)ttG>ttA p.L1524L NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1524 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) TAGGTGGTATCAATAGGCTGC 0.507000 OREG0022156 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 16 0 0 1 0 0 DCLK1 9201 broad.mit.edu 37 13 36410271 36410271 + Silent SNP C C T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr13:36410271C>T ENST00000255448.4 - 8 1339 c.1128G>A c.(1126-1128)tcG>tcA p.S376S DCLK1_ENST00000379893.1_Silent_p.S69S|DCLK1_ENST00000360631.3_Silent_p.S376S NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 376 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) AGCCTTCCTCCGACACTTCTG 0.353000 27 65 0 0 1 0 0 BRINP2 57795 broad.mit.edu 37 1 177247923 177247923 + Splice_Site SNP T T G TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr1:177247923T>G ENST00000361539.4 + 7 1547 c.e7+2 BRINP2_ENST00000478325.1_Splice_Site NM_021165.2 NP_066988.1 bone morphogenetic protein/retinoic acid inducible neural-specific 2 CAAGGAGAGGTGAGCACCCCC 0.607000 6 21 0 0 1 0 0 ABL2 27 broad.mit.edu 37 1 179081513 179081513 + Missense_Mutation SNP C C T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr1:179081513C>T ENST00000502732.1 - 10 1785 c.1582G>A c.(1582-1584)Gat>Aat p.D528N ABL2_ENST00000511413.1_Missense_Mutation_p.D528N|ABL2_ENST00000344730.3_Missense_Mutation_p.D513N|ABL2_ENST00000392043.3_Missense_Mutation_p.D507N|ABL2_ENST00000504405.1_Missense_Mutation_p.D492N|ABL2_ENST00000512653.1_Missense_Mutation_p.D513N|ABL2_ENST00000408940.3_Missense_Mutation_p.D492N|ABL2_ENST00000367623.4_Missense_Mutation_p.D507N|ABL2_ENST00000507173.1_Missense_Mutation_p.D507N NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 528 Protein kinase. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) GAGGGCCTATCGGCAGGGCTC 0.403000 T ETV6 AML 18 17 0 0 1 0 0 KCNMA1 3778 broad.mit.edu 37 10 79397076 79397076 + Missense_Mutation SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr10:79397076G>A ENST00000286627.5 - 1 1277 c.325C>T c.(325-327)Cgg>Tgg p.R109W KCNMA1_ENST00000406533.3_Missense_Mutation_p.R109W|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R109W|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R109W|KCNMA1_ENST00000480683.1_Missense_Mutation_p.R109W|KCNMA1_ENST00000286628.8_Missense_Mutation_p.R109W|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R109W|KCNMA1_ENST00000481070.1_Missense_Mutation_p.R109W|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R109W|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R109W NM_001271519.1|NM_002247.3 NP_001258448.1|NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 109 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) TTGAGCGTCCGCCAGAGCAAG 0.677000 8 41 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37864714 37864714 + Silent SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr17:37864714G>A ENST00000406381.2 + 5 786 c.276G>A c.(274-276)ccG>ccA p.P92P ERBB2_ENST00000540042.1_Silent_p.P92P|ERBB2_ENST00000269571.5_Silent_p.P122P|ERBB2_ENST00000541774.1_Silent_p.P107P|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000584450.1_Silent_p.P122P|ERBB2_ENST00000584601.1_Silent_p.P92P|ERBB2_ENST00000578199.1_Silent_p.P92P|ERBB2_ENST00000540147.1_Silent_p.P92P NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 122 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) ATGGAGACCCGCTGAACAATA 0.607000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 4 113 0 0 1 0 0 IQCF1 132141 broad.mit.edu 37 3 51929022 51929022 + Missense_Mutation SNP A A G TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr3:51929022A>G ENST00000310914.5 - 4 564 c.502T>C c.(502-504)Ttc>Ctc p.F168L NM_152397.2 NP_689610.2 Q8N6M8 IQCF1_HUMAN IQ motif containing F1 168 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CCCTTGATGAACCCCCGGGAA 0.582000 4 94 0 0 1 0 0 GATA1 2623 broad.mit.edu 37 X 48650370 48650370 + Missense_Mutation SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chrX:48650370G>A ENST00000376670.3 + 3 451 c.340G>A c.(340-342)Gag>Aag p.E114K GATA1_ENST00000376665.3_Missense_Mutation_p.E114K NM_002049.3 NP_002040.1 P15976 GATA1_HUMAN GATA binding protein 1 (globin transcription factor 1) 114 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.?(2)|p.V77_A120>A(1)|p.E114K(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1) 283 TCCCACCCGCGAGGACTCTCC 0.622000 """Mis, F""" megakaryoblastic leukemia of Downs Syndrome 8 31 0 0 1 0 0 UXS1 80146 broad.mit.edu 37 2 106710609 106710609 + Missense_Mutation SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr2:106710609G>A ENST00000283148.7 - 15 1248 c.1151C>T c.(1150-1152)cCg>cTg p.P384L UXS1_ENST00000409501.3_Missense_Mutation_p.P379L|UXS1_ENST00000409032.1_Missense_Mutation_p.P211L|UXS1_ENST00000540130.1_Missense_Mutation_p.P322L NM_001253875.1|NM_025076.4 NP_001240804.1|NP_079352.2 Q8NBZ7 UXS1_HUMAN UDP-glucuronate decarboxylase 1 379 cellular metabolic process Golgi cisterna membrane|integral to membrane coenzyme binding|UDP-glucuronate decarboxylase activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2) 17 TTCCTCCAGCGGGACCTGTTT 0.478000 12 24 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16263639 16263639 + Silent SNP G G C TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr16:16263639G>C ENST00000205557.7 - 22 2888 c.2859C>G c.(2857-2859)ctC>ctG p.L953L NM_001171.5 NP_001162 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 953 ABC transmembrane type-1 2. L -> H. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) GGCAGAGGAAGAGGAAGAGTG 0.662000 3 5 0 0 1 0 0 ILDR1 286676 broad.mit.edu 37 3 121724236 121724236 + Nonsense_Mutation SNP G G C TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr3:121724236G>C ENST00000273691.3 - 3 339 c.234C>G c.(232-234)taC>taG p.Y78* ILDR1_ENST00000462014.1_Nonsense_Mutation_p.Y90*|ILDR1_ENST00000344209.5_Nonsense_Mutation_p.Y78*|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Nonsense_Mutation_p.Y78* NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 78 Ig-like V-type. cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) AAGCTGCCTGGTATGCTGAGG 0.582000 16 19 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56249465 56249465 + Missense_Mutation SNP C C T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr19:56249465C>T ENST00000332836.2 - 1 303 c.276G>A c.(274-276)atG>atA p.M92I NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 92 DAPIN. cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) ACTTACTTCTCATCTCTTCCT 0.498000 180 257 0 0 1 0 0 ILDR1 286676 broad.mit.edu 37 3 121724238 121724238 + Missense_Mutation SNP A A T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr3:121724238A>T ENST00000273691.3 - 3 337 c.232T>A c.(232-234)Tac>Aac p.Y78N ILDR1_ENST00000462014.1_Missense_Mutation_p.Y90N|ILDR1_ENST00000344209.5_Missense_Mutation_p.Y78N|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Missense_Mutation_p.Y78N NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 78 Ig-like V-type. cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) GCTGCCTGGTATGCTGAGGAG 0.577000 16 19 0 0 1 0 0 PPEF1 5475 broad.mit.edu 37 X 18842187 18842187 + Missense_Mutation SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chrX:18842187G>A ENST00000361511.4 + 17 2142 c.1648G>A c.(1648-1650)Gaa>Aaa p.E550K PPEF1_ENST00000544635.1_Missense_Mutation_p.E485K|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000349874.5_Missense_Mutation_p.E488K|PPEF1_ENST00000359763.6_Missense_Mutation_p.E497K NM_006240.2|NM_152224.1 NP_006231.2|NP_689410.1 O14829 PPE1_HUMAN protein phosphatase, EF-hand calcium binding domain 1 550 detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 43 Hepatocellular(33;0.183) TATCCGCATTGAAAAACCTGT 0.463000 26 48 0 0 1 0 0 HARBI1 283254 broad.mit.edu 37 11 46637624 46637624 + Missense_Mutation SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr11:46637624G>A ENST00000326737.3 - 2 411 c.164C>T c.(163-165)gCg>gTg p.A55V NM_173811.3 NP_776172.1 Q96MB7 HARB1_HUMAN harbinger transposase derived 1 55 cytoplasm|nucleus metal ion binding|nuclease activity large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1) 3 AGAAAGATTCGCCCCCAAGAG 0.483000 4 23 0 0 1 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140731361 140731361 + Missense_Mutation SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr5:140731361G>A ENST00000523390.1 + 1 1534 c.1534G>A c.(1534-1536)Gcg>Acg p.A512T PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGGTGTTCGCGCAGCGCGC 0.682000 27 34 0 0 1 0 0 FAM171A1 221061 broad.mit.edu 37 10 15290650 15290650 + Missense_Mutation SNP C C G TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr10:15290650C>G ENST00000378116.4 - 5 748 c.742G>C c.(742-744)Gac>Cac p.D248H FAM171A1_ENST00000477161.1_5'UTR NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 248 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 AGCTTCTGGTCAAACCGCCAC 0.557000 16 46 0 0 1 0 0 LPPR5 163404 broad.mit.edu 37 1 99387478 99387478 + Missense_Mutation SNP A A G TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr1:99387478A>G ENST00000370188.3 - 4 1118 c.758T>C c.(757-759)aTa>aCa p.I253T LPPR5_ENST00000263177.4_Missense_Mutation_p.I253T NM_001010861.2 NP_001010861.1 Q32ZL2 LPPR5_HUMAN 253 integral to membrane hydrolase activity AAAGCCTGCTATAACATCTGA 0.348000 3 71 0 0 1 0 0 CCDC170 80129 broad.mit.edu 37 6 151936602 151936602 + Missense_Mutation SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr6:151936602G>A ENST00000367290.5 + 10 1845 c.1756G>A c.(1756-1758)Gcc>Acc p.A586T CCDC170_ENST00000239374.7_Missense_Mutation_p.A579T Q8IYT3 CF097_HUMAN coiled-coil domain containing 170 579 ACAGACTAAAGCCATTGAAGA 0.363000 45 107 0 0 1 0 0 SNHG7 84973 broad.mit.edu 37 9 139620598 139620598 + RNA SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr9:139620598G>A ENST00000414282.1 - 0 451 SNHG7_ENST00000362567.2_RNA|SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000436596.1_RNA ACTGGTTCCCGAGCACTGAGT 0.532000 35 8 0 0 1 0 0 OR6C68 403284 broad.mit.edu 37 12 55886505 55886505 + Missense_Mutation SNP C C T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr12:55886505C>T ENST00000379662.1 + 1 359 c.359C>T c.(358-360)aCc>aTc p.T120I RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|OR6C68_ENST00000548615.1_Missense_Mutation_p.T115I|RP11-110A12.2_ENST00000555138.1_RNA A6NDL8 O6C68_HUMAN olfactory receptor, family 6, subfamily C, member 68 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 CTTTTGGCTACCATGTCATAT 0.373000 34 72 0 0 1 0 0 IGF1R 3480 broad.mit.edu 37 15 99467161 99467161 + Missense_Mutation SNP A A G TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr15:99467161A>G ENST00000268035.6 + 12 3153 c.2542A>G c.(2542-2544)Atc>Gtc p.I848V IGF1R_ENST00000558762.1_Missense_Mutation_p.I848V NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 848 Fibronectin type-III 3. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) TGAAAACTCCATCTTTTTAAA 0.463000 23 28 0 0 1 0 0 ZNF337 26152 broad.mit.edu 37 20 25656605 25656605 + Missense_Mutation SNP C C T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr20:25656605C>T ENST00000376436.1 - 4 1858 c.1319G>A c.(1318-1320)gGa>gAa p.G440E RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.G440E|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.G408E zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CTGAATAAATCCTTGCCCACA 0.443000 31 91 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58583728 58583728 + Silent SNP G G C TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr16:58583728G>C ENST00000317147.5 - 25 3749 c.3417C>G c.(3415-3417)gtC>gtG p.V1139V CNOT1_ENST00000245138.4_Silent_p.V29V|CNOT1_ENST00000569240.1_Silent_p.V1134V|CNOT1_ENST00000441024.2_Silent_p.V1139V NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1139 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) GCTCAATACTGACTCTCTTCA 0.408000 38 59 0 0 1 0 0 SLC6A19 340024 broad.mit.edu 37 5 1219752 1219752 + Missense_Mutation SNP C C G TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr5:1219752C>G ENST00000304460.10 + 10 1567 c.1511C>G c.(1510-1512)tCt>tGt p.S504C NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 504 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GAGATGTTCTCTGTGGTCTAC 0.587000 32 35 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25886731 25886731 + Missense_Mutation SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr10:25886731G>A ENST00000376351.3 + 11 2535 c.2176G>A c.(2176-2178)Gaa>Aaa p.E726K GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 726 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TGCCCAACTGGAAATATATAA 0.423000 81 50 0 0 1 0 0 MGAT3 4248 broad.mit.edu 37 22 39884006 39884006 + Missense_Mutation SNP C C A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr22:39884006C>A ENST00000341184.6 + 2 869 c.654C>A c.(652-654)ttC>ttA p.F218L NM_001098270.1|NM_002409.4 NP_001091740.1|NP_002400.3 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase 218 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity p.F218F(1) endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) ACCACGAGTTCGACCTGCTGG 0.652000 7 26 1.06961e-07 1.11936e-07 1 1 0 PDCL 5082 broad.mit.edu 37 9 125588973 125588973 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr9:125588973G>A ENST00000259467.4 - 2 259 c.94C>T c.(94-96)Cga>Tga p.R32* NM_005388.4 NP_005379.3 Q13371 PHLP_HUMAN phosducin-like 32 signal transduction|visual perception endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 10 CATCTGCCTCGGTCCTTGTCC 0.552000 39 20 0 0 1 0 0 ABCA10 10349 broad.mit.edu 37 17 67152025 67152025 + Missense_Mutation SNP T T A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr17:67152025T>A ENST00000269081.4 - 30 4406 c.3497A>T c.(3496-3498)gAg>gTg p.E1166V ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 1166 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) TTCTTCGGGCTCTTCCGGATT 0.423000 72 230 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77325309 77325309 + Missense_Mutation SNP C C T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr16:77325309C>T ENST00000282849.5 - 21 3674 c.3256G>A c.(3256-3258)Gga>Aga p.G1086R NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 1086 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 ATCAGCTTTCCCTGGAAGCCC 0.507000 101 137 0 0 1 0 0 ANKMY2 57037 broad.mit.edu 37 7 16640456 16640456 + Missense_Mutation SNP G G C TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr7:16640456G>C ENST00000306999.2 - 10 1499 c.1256C>G c.(1255-1257)tCt>tGt p.S419C NM_020319.2 NP_064715.1 Q8IV38 ANKY2_HUMAN ankyrin repeat and MYND domain containing 2 419 cilium zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 23 Lung NSC(10;0.103)|all_lung(11;0.204) UCEC - Uterine corpus endometrioid carcinoma (126;0.195) GCTTTCAAGAGATTCTTTCTT 0.473000 18 41 0 0 1 0 0 TNK2 10188 broad.mit.edu 37 3 195595153 195595153 + Silent SNP C C A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr3:195595153C>A ENST00000333602.6 - 12 2588 c.1971G>T c.(1969-1971)gcG>gcT p.A657A TNK2_ENST00000392400.1_Silent_p.A657A|TNK2_ENST00000428187.1_Silent_p.A689A|TNK2_ENST00000381916.2_Silent_p.A735A NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 657 Pro-rich. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CAGGGACCCCCGCGCCCACGA 0.706000 11 10 1.58986e-06 1.63841e-06 1 1 0 RNF44 22838 broad.mit.edu 37 5 175959433 175959433 + Missense_Mutation SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr5:175959433G>A ENST00000274811.4 - 2 565 c.41C>T c.(40-42)tCc>tTc p.S14F RNF44_ENST00000537487.1_5'UTR NM_014901.4 NP_055716.1 Q7L0R7 RNF44_HUMAN ring finger protein 44 14 Pro-rich. zinc ion binding endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1) 8 all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CACGGGGGCGGAGGGTGGCCA 0.711000 4 8 0 0 1 0 0 AFMID 125061 broad.mit.edu 37 17 76183502 76183502 + Translation_Start_Site SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr17:76183502G>A ENST00000586731.1 + 0 21 AFMID_ENST00000591952.1_Silent_p.K17K|AFMID_ENST00000327898.5_Silent_p.K17K|AFMID_ENST00000588800.1_Silent_p.K17K|AFMID_ENST00000589256.1_Silent_p.K17K|AFMID_ENST00000409257.5_Silent_p.K17K Q63HM1 AFMID_HUMAN arylformamidase cytosol|nucleus arylformamidase activity autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1) 19 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134) CTTGGAAGAAGATGTCTGCAG 0.527000 73 39 0 0 1 0 0 TOX 9760 broad.mit.edu 37 8 59728116 59728116 + Silent SNP A A G TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr8:59728116A>G ENST00000361421.1 - 7 1393 c.1173T>C c.(1171-1173)agT>agC p.S391S NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 391 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) TCCTGGGGAGACTAGGATGCA 0.557000 25 25 0 0 1 0 0 GRIK4 2900 broad.mit.edu 37 11 120732772 120732772 + Silent SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr11:120732772G>A ENST00000527524.2 + 9 1136 c.849G>A c.(847-849)caG>caA p.Q283Q GRIK4_ENST00000438375.2_Silent_p.Q283Q NM_001282470.1 NP_001269399.1 Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 283 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) AGTTTGCCCAGAGCCTCAACC 0.542000 82 130 0 0 1 0 0 OR51G2 81282 broad.mit.edu 37 11 4936343 4936343 + Missense_Mutation SNP C C A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr11:4936343C>A ENST00000322013.3 - 1 579 c.551G>T c.(550-552)tGt>tTt p.C184F MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 184 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TTGGTGGAGACAATAAGAATG 0.463000 12 34 1.5842e-08 1.67084e-08 1 1 0 POTEH 23784 broad.mit.edu 37 22 16287760 16287760 + Silent SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr22:16287760G>A ENST00000343518.6 - 1 177 c.126C>T c.(124-126)aaC>aaT p.N42N NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 42 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 AAGTGCCCACGTTGCTCTTGC 0.607000 23 329 0 0 1 0 0 CTC1 80169 broad.mit.edu 37 17 8135439 8135439 + Missense_Mutation SNP C C T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr17:8135439C>T ENST00000315684.8 - 13 2174 c.2167G>A c.(2167-2169)Gag>Aag p.E723K NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 723 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 TGGGGTCCCTCTGGGCCGGTG 0.582000 8 5 0 0 1 0 0 CORO7-PAM16 100529144 broad.mit.edu 37 16 4393217 4393217 + Missense_Mutation SNP C C G TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr16:4393217C>G ENST00000572467.1 - 28 2916 c.2848G>C c.(2848-2850)Gag>Cag p.E950Q PAM16_ENST00000318059.3_Missense_Mutation_p.E27Q|CORO7-PAM16_ENST00000572274.1_Intron|PAM16_ENST00000571941.1_Missense_Mutation_p.E47Q|PAM16_ENST00000573553.1_Missense_Mutation_p.E47Q|PAM16_ENST00000577031.1_Missense_Mutation_p.E27Q|PAM16_ENST00000575848.1_Missense_Mutation_p.E39Q|PAM16_ENST00000576217.1_Missense_Mutation_p.E27Q NM_001201479.1 NP_001188408.1 CCTGCAAACTCCTGCCGCAAG 0.632000 4 18 0 0 1 0 0 DISP2 85455 broad.mit.edu 37 15 40659810 40659810 + Silent SNP C C T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr15:40659810C>T ENST00000267889.3 + 8 1584 c.1497C>T c.(1495-1497)atC>atT p.I499I NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 499 SSD. smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) TGGTTGCCATCTTCTTCGGCA 0.612000 24 60 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2966266 2966266 + Missense_Mutation SNP C C T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr8:2966266C>T ENST00000602557.1 - 45 7171 c.6616G>A c.(6616-6618)Ggt>Agt p.G2206S CSMD1_ENST00000602723.1_Missense_Mutation_p.G2206S|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2205S|CSMD1_ENST00000520002.1_Missense_Mutation_p.G2206S|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2206S|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2205S Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2206 CUB 13. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGATCGGGACCGTCCCTAGGA 0.453000 7 19 0 0 1 0 0 HSD17B10 3028 broad.mit.edu 37 X 53460771 53460771 + Silent SNP A A G TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chrX:53460771A>G ENST00000168216.6 - 2 117 c.90T>C c.(88-90)ctT>ctC p.L30L HSD17B10_ENST00000495986.1_5'UTR|HSD17B10_ENST00000375298.4_Silent_p.L30L|HSD17B10_ENST00000375304.5_Silent_p.L30L NM_001037811.2|NM_004493.2 NP_001032900.1|NP_004484.1 Q99714 HCD2_HUMAN hydroxysteroid (17-beta) dehydrogenase 10 30 branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing mitochondrial matrix|plasma membrane 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1) 8 NADH(DB00157) CCTGCCCCACAAGTCGCTCCG 0.627000 9 12 0 0 1 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr13:25161397C>G ENST00000453498.1 + 0 921 TPTE2P6_ENST00000440905.1_RNA TGAAACATCTCTACAACTGGA 0.343000 3 52 0 0 1 0 0 SNHG15 285958 broad.mit.edu 37 7 45025006 45025006 + RNA SNP T T C TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr7:45025006T>C ENST00000384215.1 - 0 103 NR_002952.1 AACCTTGCTCTGGATGGAGCA 0.507000 22 25 0 0 1 0 0 LUZP4 51213 broad.mit.edu 37 X 114536557 114536557 + Translation_Start_Site SNP A A T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chrX:114536557A>T ENST00000451986.2 + 0 125 LUZP4_ENST00000371920.3_Splice_Site_p.D31V Q9P127 LUZP4_HUMAN leucine zipper protein 4 nucleus endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 14 TCTAATACAGACGACATTATA 0.299000 26 41 0 0 1 0 0 SPG7 6687 broad.mit.edu 37 16 89619471 89619471 + Missense_Mutation SNP C C G TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr16:89619471C>G ENST00000268704.2 + 14 1879 c.1864C>G c.(1864-1866)Ctg>Gtg p.L622V NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 622 cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) CAAGGAGCAGCTGTTTGAGCG 0.627000 8 16 0 0 1 0 0 TSC1 7248 broad.mit.edu 37 9 135779172 135779172 + Nonsense_Mutation SNP G G A rs118203630 TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr9:135779172G>A ENST00000298552.3 - 17 2295 c.2074C>T c.(2074-2076)Cga>Tga p.R692* TSC1_ENST00000440111.2_Nonsense_Mutation_p.R692*|TSC1_ENST00000545250.1_Nonsense_Mutation_p.R641* NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 692 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) AACTGGTCTCGGAGGGTGCGG 0.532000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 31 13 0 0 1 0 0 PNPLA6 10908 broad.mit.edu 37 19 7601354 7601354 + Missense_Mutation SNP C C A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr19:7601354C>A ENST00000221249.6 + 6 649 c.218C>A c.(217-219)tCc>tAc p.S73Y PNPLA6_ENST00000450331.3_Missense_Mutation_p.S73Y|CTD-2207O23.10_ENST00000601870.1_3'UTR|PNPLA6_ENST00000545201.2_Missense_Mutation_p.S73Y|PNPLA6_ENST00000414982.3_Missense_Mutation_p.S121Y|PNPLA6_ENST00000600737.1_Missense_Mutation_p.S112Y NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 112 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 TCCACCTCCTCCCTCGTGGAT 0.552000 20 20 1.2644e-06 1.31304e-06 1 1 0 CRTAC1 55118 broad.mit.edu 37 10 99683047 99683047 + Missense_Mutation SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr10:99683047G>A ENST00000370597.3 - 4 887 c.532C>T c.(532-534)Cgc>Tgc p.R178C CRTAC1_ENST00000298819.4_Missense_Mutation_p.R178C|CRTAC1_ENST00000370591.2_Missense_Mutation_p.R178C NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 178 proteinaceous extracellular matrix calcium ion binding p.R178C(1) autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) GCCACAGAGCGTCCGGCAAAG 0.592000 42 24 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152527421 152527421 + Missense_Mutation SNP G G A rs147109049 TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr6:152527421G>A ENST00000367255.5 - 126 23502 c.22901C>T c.(22900-22902)tCg>tTg p.S7634L SYNE1_ENST00000423061.1_Missense_Mutation_p.S7563L|SYNE1_ENST00000265368.4_Missense_Mutation_p.S7634L|SYNE1_ENST00000356820.4_Missense_Mutation_p.S2158L|SYNE1_ENST00000448038.1_Missense_Mutation_p.S7563L|SYNE1_ENST00000341594.5_Missense_Mutation_p.S7246L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7634 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ACTGTCCGCCGAGAGAAGGAG 0.502000 HNSCC(10;0.0054) 22 38 0 0 1 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47422106 47422106 + Silent SNP C C T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr19:47422106C>T ENST00000404338.3 + 1 174 c.174C>T c.(172-174)ctC>ctT p.L58L NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 58 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity CCTCCGTCCTCAGCACCAGTG 0.527000 25 35 0 0 1 0 0 C15orf26 161502 broad.mit.edu 37 15 81427644 81427644 + Missense_Mutation SNP A A G TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr15:81427644A>G ENST00000286732.4 + 2 186 c.103A>G c.(103-105)Aag>Gag p.K35E NM_173528.2 NP_775799.2 Q6P656 CO026_HUMAN chromosome 15 open reading frame 26 35 endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1) 17 GAAGAGAGACAAGGGGAAACT 0.318000 19 28 0 0 1 0 0 WBP4 11193 broad.mit.edu 37 13 41636841 41636841 + Missense_Mutation SNP G G C TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr13:41636841G>C ENST00000379487.3 + 2 464 c.64G>C c.(64-66)Gac>Cac p.D22H WBP4_ENST00000542082.1_Missense_Mutation_p.D22H NM_007187.3 NP_009118.1 O75554 WBP4_HUMAN WW domain binding protein 4 22 nuclear mRNA cis splicing, via spliceosome nuclear speck|spliceosomal complex nucleic acid binding|proline-rich region binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1) 12 Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07) CTGGATAGCAGACAATAGGCC 0.388000 16 26 0 0 1 0 0 AXIN2 8313 broad.mit.edu 37 17 63554321 63554321 + Missense_Mutation SNP C C G TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr17:63554321C>G ENST00000307078.5 - 2 731 c.418G>C c.(418-420)Gag>Cag p.E140Q AXIN2_ENST00000375702.5_Missense_Mutation_p.E140Q|CTD-2535L24.2_ENST00000577662.1_3'UTR NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 140 RGS. cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 CTGTTGTTCTCAATGTACCTT 0.443000 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 324 24 0 0 1 0 0 RHOB 388 broad.mit.edu 37 2 20647449 20647449 + Missense_Mutation SNP C C A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr2:20647449C>A ENST00000272233.4 + 1 615 c.223C>A c.(223-225)Ccg>Acg p.P75T NM_004040.2 NP_004031.1 P62745 RHOB_HUMAN ras homolog family member B 75 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) GCTCTCCTACCCGGACACCGA 0.647000 63 67 4.45325e-31 4.8483e-31 1 1 0 TMPRSS4 56649 broad.mit.edu 37 11 117982463 117982463 + Silent SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr11:117982463G>A ENST00000534111.1 + 8 850 c.585G>A c.(583-585)ggG>ggA p.G195G TMPRSS4_ENST00000523251.1_Silent_p.G157G|TMPRSS4_ENST00000522824.1_Silent_p.G192G|TMPRSS4_ENST00000522307.1_Silent_p.G50G|TMPRSS4_ENST00000437212.3_Silent_p.G197G NM_001083947.1|NM_001173551.1|NM_019894.3 NP_001077416.1|NP_001167022|NP_063947.1 Q9NRS4 TMPS4_HUMAN transmembrane protease, serine 4 197 SRCR. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238) BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204) CAGCCTGTGGGAAGAGCCTGA 0.602000 15 27 0 0 1 0 0 MINA 84864 broad.mit.edu 37 3 97664163 97664163 + Missense_Mutation SNP C C A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr3:97664163C>A ENST00000333396.7 - 10 1845 c.1263G>T c.(1261-1263)ttG>ttT p.L421F MINA_ENST00000394198.2_Missense_Mutation_p.L421F|MINA_ENST00000360258.4_Missense_Mutation_p.L420F NM_001042533.2|NM_032778.5 NP_001035998.1|NP_116167.3 Q8IUF8 MINA_HUMAN MYC induced nuclear antigen ribosome biogenesis cytoplasm|nucleolus breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1) 13 CCAAATGTGACAAAGGGAAGC 0.338000 21 40 1.64113e-05 1.66581e-05 1 1 0 LRBA 987 broad.mit.edu 37 4 151223780 151223780 + Missense_Mutation SNP C C T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr4:151223780C>T ENST00000535741.1 - 53 8487 c.8014G>A c.(8014-8016)Ggc>Agc p.G2672S LRBA_ENST00000357115.3_Missense_Mutation_p.G2683S|LRBA_ENST00000510413.1_Splice_Site_p.G2672S|LRBA_ENST00000503716.1_5'UTR P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 2683 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) TACTTACTGCCTGGGTTATCT 0.368000 14 33 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 39 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140176410 140176410 + Missense_Mutation SNP C C T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr5:140176410C>T ENST00000526136.1 + 1 1861 c.1861C>T c.(1861-1863)Ccg>Tcg p.P621S PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.P621S|PCDHA2_ENST00000378132.1_Missense_Mutation_p.P621S|PCDHA1_ENST00000504120.2_Intron NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCTCGCATCCCGTTCCGCGT 0.637000 18 58 0 0 1 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140810349 140810349 + Missense_Mutation SNP G G A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr5:140810349G>A ENST00000252085.3 + 1 165 c.23G>A c.(22-24)cGg>cAg p.R8Q PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGACTGCACCGGGACTACAAA 0.512000 4 79 0 0 1 0 0 PINK1 65018 broad.mit.edu 37 1 20972134 20972134 + Frame_Shift_Del DEL G G - TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr1:20972134delG ENST00000321556.4 + 5 1135 c.1041delG c.(1039-1041)ctgfs p.L347fs PINK1-AS_ENST00000451424.1_RNA|PINK1_ENST00000492302.1_3'UTR NM_032409.2 NP_115785.1 Q9BXM7 PINK1_HUMAN PTEN induced putative kinase 1 347 Protein kinase. L -> P (in PARK6; strongly reduces interaction with PARK2). cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress cytosol|integral to membrane|mitochondrial outer membrane ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2) 14 all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|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;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TGCAGCTGCTGGAAGGCGTGG 0.617 12 14 --- --- --- --- RP11-649A16.1 0 broad.mit.edu 37 3 146995077 146995077 + RNA DEL A A - TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr3:146995077delA ENST00000473299.1 - 0 132 TCTGGACTGtaaaaaaaaaaa 0.294 4 9 --- --- --- --- GS1-124K5.2 0 broad.mit.edu 37 7 65888988 65888988 + RNA DEL T T - TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr7:65888988delT ENST00000442578.1 - 0 826 tttttttttcttttttttttt 0.488 2 4 --- --- --- --- DLX6 1750 broad.mit.edu 37 7 96635421 96635429 + In_Frame_Del DEL GCCGCCGCC GCCGCCGCC - TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr7:96635421_96635429delGCCGCCGCC ENST00000518156.2 + 1 562_570 c.132_140delGCCGCCGCC c.(130-141)cagccgccgccg>cag p.PPP51del DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6_ENST00000007660.5_Intron P56179 DLX6_HUMAN distal-less homeobox 6 0 nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) aacagcaacagccgccgccgccgccgccg 0.713 3 6 --- --- --- --- NOBOX 135935 broad.mit.edu 37 7 144107246 144107246 + Frame_Shift_Del DEL T T - TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr7:144107246delT ENST00000467773.1 - 1 74 c.75delA c.(73-75)aaafs p.K25fs NOBOX_ENST00000483238.1_Frame_Shift_Del_p.K25fs NM_001080413.3 NP_001073882.3 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 25 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) CCTCCTGGGCTTTGAAGCCAT 0.517 2 4 --- --- --- --- FAM66B 100128890 broad.mit.edu 37 8 7196263 7196264 + RNA DEL AC AC - TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr8:7196263_7196264delAC ENST00000606573.1 - 0 703 ACTGAGGGGTacacacacacac 0.500 3 4 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49420203 49420204 + Frame_Shift_Ins INS - - C rs1064211 TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr12:49420203_49420204insC ENST00000301067.7 - 48 15544_15545 c.15545_15546insG c.(15544-15546)ggcfs p.G5182fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.V4914fs*59(2)|p.G5182D(1)|p.G4912D(1) GGAACACAAGGCCCCCCACACG 0.594 9 35 --- --- --- --- FRMD6 122786 broad.mit.edu 37 14 52178294 52178295 + Frame_Shift_Ins INS - - G TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr14:52178294_52178295insG ENST00000395718.2 + 8 1021_1022 c.736_737insG c.(736-738)aggfs p.R246fs FRMD6_ENST00000344768.5_Frame_Shift_Ins_p.R254fs|FRMD6_ENST00000356218.4_Frame_Shift_Ins_p.R246fs|FRMD6_ENST00000554167.1_Frame_Shift_Ins_p.R177fs NM_001267046.1|NM_152330.3 NP_001253975.1|NP_689543.1 Q96NE9 FRMD6_HUMAN FERM domain containing 6 254 FERM. cytoskeleton|mitochondrion|plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_epithelial(31;0.0163)|Breast(41;0.089) ATTGACCATGAGGGGAATACAG 0.371 27 50 --- --- --- --- MYH11 4629 broad.mit.edu 37 16 15814764 15814764 + Frame_Shift_Del DEL G G - TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr16:15814764delG ENST00000452625.2 - 34 4831 c.4744delC c.(4744-4746)cagfs p.Q1582fs MYH11_ENST00000300036.5_Frame_Shift_Del_p.Q1575fs|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000396324.3_Frame_Shift_Del_p.Q1582fs|MYH11_ENST00000576790.2_Frame_Shift_Del_p.Q1575fs NM_001040113.1 NP_001035202.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1575 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 CTTTCGAACTGGCCCTTGAGC 0.622 T CBFB AML 32 52 --- --- --- --- PKD1L2 114780 broad.mit.edu 37 16 81253526 81253527 + RNA INS - - TTATT rs140827348 by1000genomes TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr16:81253526_81253527insTTATT ENST00000337114.4 - 0 301 PKD1L2_ENST00000525539.1_RNA NM_001076780.1 NP_001070248.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 ttagacatgaattatttaatcc 0.391 3 4 --- --- --- --- NLRP1 22861 broad.mit.edu 37 17 5487008 5487008 + Splice_Site DEL T T - TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr17:5487008delT ENST00000345221.3 - 1 824 c.270delA c.(268-270)gca>gc p.A90fs NLRP1_ENST00000577119.1_Splice_Site_p.A90fs|NLRP1_ENST00000269280.4_Splice_Site_p.A90fs|NLRP1_ENST00000262467.5_Splice_Site_p.A90fs|NLRP1_ENST00000572272.1_Splice_Site_p.A90fs|NLRP1_ENST00000354411.3_Splice_Site_p.A90fs|NLRP1_ENST00000571307.1_5'UTR NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 90 DAPIN. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) TCCACTCACCTGCCCCTTCCT 0.687 2 4 --- --- --- --- VEZF1 7716 broad.mit.edu 37 17 56056605 56056607 + In_Frame_Del DEL TGC TGC - rs61731354 byFrequency TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf9f74f-dc4b-464f-af5f-d333424ae66a 285c4dba-3695-4811-99b2-ad383c9dc3fc g.chr17:56056605_56056607delTGC ENST00000584396.1 - 5 1105_1107 c.1017_1019delGCA c.(1015-1020)cagcaa>caa p.339_340QQ>Q VEZF1_ENST00000581208.1_In_Frame_Del_p.348_349QQ>Q Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 348 cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 ttgttgttgttgctgctgctgct 0.463 7 598 --- --- --- ---