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 ARL4A 10124 broad.mit.edu 37 7 12728098 12728098 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr7:12728098C>G ENST00000396663.1 + 2 701 c.219C>G c.(217-219)ttC>ttG p.F73L ARL4A_ENST00000396662.1_Missense_Mutation_p.F73L|ARL4A_ENST00000396664.2_Missense_Mutation_p.F73L|ARL4A_ENST00000356797.3_Missense_Mutation_p.F73L|ARL4A_ENST00000404894.1_Missense_Mutation_p.F73L NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3 NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1 P40617 ARL4A_HUMAN ADP-ribosylation factor-like 4A 73 small GTPase mediated signal transduction cytoplasm|nucleolus|plasma membrane GTP binding|protein binding NS(2)|lung(3)|ovary(1) 6 UCEC - Uterine corpus endometrioid carcinoma (126;0.176) CTTTTCACTTCTGGGATGTAG 0.388000 5 50 0 0 1 0 0 IFNA21 3452 broad.mit.edu 37 9 21166192 21166192 + Silent SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr9:21166192G>A ENST00000380225.1 - 1 467 c.420C>T c.(418-420)atC>atT p.I140I NM_002175.2 NP_002166.2 P01568 IFN21_HUMAN interferon, alpha 21 140 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3) 14 GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) TCACAGCCAGGATGGAGTCCA 0.468000 89 254 0 0 1 0 0 RAD54L2 23132 broad.mit.edu 37 3 51667733 51667733 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr3:51667733C>T ENST00000409535.2 + 7 1091 c.966C>T c.(964-966)ctC>ctT p.L322L RAD54L2_ENST00000296477.3_Silent_p.L16L NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) Helicase ATP-binding. nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) TCGACGTCCTCTTCCGCCACA 0.512000 8 79 0 0 1 0 0 CDC14B 8555 broad.mit.edu 37 9 99285702 99285702 + Splice_Site SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr9:99285702C>T ENST00000375241.1 - 11 1537 c.1086G>A c.(1084-1086)atG>atA p.M362I CDC14B_ENST00000375240.3_Splice_Site_p.M362I|CDC14B_ENST00000265659.2_Splice_Site_p.M362I|CDC14B_ENST00000375236.1_Splice_Site_p.M362I|CDC14B_ENST00000463569.1_Splice_Site_p.M362I|CDC14B_ENST00000375242.3_Splice_Site_p.M325I NM_003671.3|NM_033331.2 NP_003662.1|NP_201588.1 O60729 CC14B_HUMAN cell division cycle 14B 362 B. activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint nucleolus|nucleoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 15 Acute lymphoblastic leukemia(62;0.0559) TGGTTTGCTTCCTAGAGCATT 0.408000 4 78 0 0 1 0 0 ZSWIM8 23053 broad.mit.edu 37 10 75559895 75559895 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr10:75559895G>C ENST00000604729.1 + 22 5089 c.4792G>C c.(4792-4794)Gag>Cag p.E1598Q ZSWIM8_ENST00000605216.1_Missense_Mutation_p.E1593Q|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.E1560Q|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.E1598Q|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.E1411Q|RP11-574K11.31_ENST00000603027.1_Intron zinc finger, SWIM-type containing 8 CTACCACACAGAGCCAGGGCT 0.602000 4 29 0 0 1 0 0 FOXS1 2307 broad.mit.edu 37 20 30433048 30433048 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr20:30433048C>T ENST00000375978.3 - 1 372 c.298G>A c.(298-300)Gac>Aac p.D100N NM_004118.3 NP_004109.1 O43638 FOXS1_HUMAN forkhead box S1 100 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 9 TCAAACATGTCGTGGCAGTCA 0.677000 7 30 0 0 1 0 0 HMGXB4 10042 broad.mit.edu 37 22 35660906 35660906 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr22:35660906C>T ENST00000216106.5 + 5 653 c.525C>T c.(523-525)ctC>ctT p.L175L HMGXB4_ENST00000444518.2_Silent_p.L66L NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 175 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TGAAACCTCTCTATGTGAACA 0.463000 11 88 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5210810 5210810 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr19:5210810C>T ENST00000372412.4 - 34 5477 c.5244G>A c.(5242-5244)caG>caA p.Q1748Q PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Silent_p.Q1727Q|PTPRS_ENST00000588012.1_Silent_p.Q1709Q|PTPRS_ENST00000587303.1_Silent_p.Q1747Q|PTPRS_ENST00000592099.1_Silent_p.Q1300Q|PTPRS_ENST00000348075.2_Silent_p.Q1709Q|PTPRS_ENST00000353284.2_Silent_p.Q1300Q|PTPRS_ENST00000357368.4_Silent_p.Q1747Q Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1747 Tyrosine-protein phosphatase 2. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) TGTAGGCCTTCTGCTGCCTGC 0.647000 4 23 0 0 1 0 0 MUC13 56667 broad.mit.edu 37 3 124646580 124646580 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr3:124646580C>T ENST00000311075.3 - 2 348 c.310G>A c.(310-312)Gac>Aac p.D104N NM_033049.3 NP_149038 Q9H3R2 MUC13_HUMAN mucin 13, cell surface associated 104 Thr-rich. extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 GACTCACTGTCTGCAGCAGTA 0.413000 16 127 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133208978 133208978 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr12:133208978C>T ENST00000320574.5 - 45 6296 c.6253G>A c.(6253-6255)Gag>Aag p.E2085K POLE_ENST00000535270.1_Missense_Mutation_p.E2058K NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 2085 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GGAAACATCTCTGAGAGCTCA 0.512000 DNA polymerases (catalytic subunits) 17 45 0 0 1 0 0 TFAP2A 7020 broad.mit.edu 37 6 10398847 10398847 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr6:10398847G>C ENST00000379613.3 - 7 1379 c.1123C>G c.(1123-1125)Cag>Gag p.Q375E TFAP2A_ENST00000379604.2_Missense_Mutation_p.Q373E|TFAP2A_ENST00000379608.3_Missense_Mutation_p.Q367E|TFAP2A_ENST00000482890.1_Missense_Mutation_p.Q373E|TFAP2A_ENST00000319516.4_Missense_Mutation_p.Q369E P05549 AP2A_HUMAN transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 373 H-S-H (helix-span-helix), dimerization. ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter centrosome|Golgi apparatus|nucleus chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 13 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) AAGCAGCTCTGGATGCCGGGC 0.637000 21 215 0 0 1 0 0 GZMM 3004 broad.mit.edu 37 19 549733 549733 + Missense_Mutation SNP C C A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr19:549733C>A ENST00000264553.3 + 5 754 c.716C>A c.(715-717)gCc>gAc p.A239D NM_001258351.1|NM_005317.3 NP_001245280.1|NP_005308 P51124 GRAM_HUMAN granzyme M (lymphocyte met-ase 1) 239 Peptidase S1. apoptosis|cytolysis|innate immune response|proteolysis extracellular region serine-type endopeptidase activity endometrium(1)|large_intestine(1)|prostate(1) 3 all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTCCCGTGGCCACCGCTGTG 0.662000 7 49 2.0095e-06 2.16503e-06 1 1 0 TRIM71 131405 broad.mit.edu 37 3 32932639 32932639 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr3:32932639C>T ENST00000383763.5 + 4 2006 c.1943C>T c.(1942-1944)tCc>tTc p.S648F NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 ACCCTGGGCTCCCGGCCTGGG 0.627000 3 19 0 0 1 0 0 SCG2 7857 broad.mit.edu 37 2 224463935 224463935 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr2:224463935G>C ENST00000305409.2 - 2 298 c.66C>G c.(64-66)atC>atG p.I22M NM_003469.4 NP_003460.2 P13521 SCG2_HUMAN secretogranin II 22 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity p.I22I(1) NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) CAGCCCCAGAGATGAGGAAAA 0.423000 9 51 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112575111 112575111 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr6:112575111G>C ENST00000368638.4 - 2 512 c.242C>G c.(241-243)cCg>cGg p.P81R RP11-506B6.6_ENST00000590673.1_RNA|LAMA4_ENST00000424408.2_Intron|LAMA4_ENST00000389463.4_Intron|RP11-506B6.6_ENST00000585450.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000590293.1_RNA|RP11-506B6.6_ENST00000433684.3_RNA|LAMA4_ENST00000522006.1_Intron|LAMA4_ENST00000230538.7_Intron|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000585504.1_RNA|LAMA4_ENST00000453937.2_Missense_Mutation_p.P81R|RP11-506B6.6_ENST00000590584.1_RNA|RP11-506B6.6_ENST00000590804.1_RNA|LAMA4_ENST00000431543.2_Intron|RP11-506B6.6_ENST00000588837.1_RNA Q16363 LAMA4_HUMAN laminin, alpha 4 0 cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CACAGCCCGCGGGGGCGCAGG 0.652000 3 16 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30721266 30721266 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr16:30721266G>C ENST00000262518.4 + 8 1336 c.951G>C c.(949-951)caG>caC p.Q317H SRCAP_ENST00000395059.2_Missense_Mutation_p.Q317H|SRCAP_ENST00000344771.4_Missense_Mutation_p.Q317H NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 317 Glu-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CAGAGGCCCAGAGGCGTGAGA 0.542000 4 29 0 0 1 0 0 ZBTB9 221504 broad.mit.edu 37 6 33423122 33423122 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr6:33423122C>T ENST00000395064.2 + 2 513 c.245C>T c.(244-246)gCg>gTg p.A82V NM_152735.3 NP_689948.1 Q96C00 ZBTB9_HUMAN zinc finger and BTB domain containing 9 82 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2) 11 CTGGGGGATGCGCCTCGTCTC 0.572000 4 223 0 0 1 0 0 PPT2-EGFL8 100532746 broad.mit.edu 37 6 32130357 32130357 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr6:32130357C>T ENST00000422437.1 + 8 914 c.723C>T c.(721-723)ttC>ttT p.F241F PPT2_ENST00000361568.2_Silent_p.F247F|PPT2_ENST00000324816.6_Silent_p.F241F|PPT2_ENST00000395523.1_Silent_p.F241F|PPT2_ENST00000375143.2_Silent_p.F241F|PPT2_ENST00000445576.2_Silent_p.F241F|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000375137.2_Silent_p.F241F|PPT2_ENST00000437001.2_Silent_p.F118F|PPT2_ENST00000493548.1_3'UTR TCTTTGGTTTCTATGATGCAA 0.532000 36 257 0 0 1 0 0 FNTB 2342 broad.mit.edu 37 14 65507601 65507601 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr14:65507601C>T ENST00000246166.2 + 8 1020 c.786C>T c.(784-786)ctC>ctT p.L262L FNTB_ENST00000447296.2_Silent_p.L296L|FNTB_ENST00000542227.1_Silent_p.L216L|MAX_ENST00000341653.2_Intron|CHURC1-FNTB_ENST00000549987.1_Silent_p.L297L NM_002028.3 NP_002019.1 farnesyltransferase, CAAX box, beta breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011) TGGTAATCCTCAAGAGGGAAC 0.522000 5 59 0 0 1 0 0 SNHG12 85028 broad.mit.edu 37 1 28907457 28907457 + RNA SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr1:28907457G>C ENST00000488745.1 - 0 1013 SNHG12_ENST00000384342.1_RNA|SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000475441.1_RNA AAATGTTGCAGATCAGTTACA 0.468000 11 102 0 0 1 0 0 KDM2B 84678 broad.mit.edu 37 12 121878649 121878649 + Missense_Mutation SNP G G T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr12:121878649G>T ENST00000377069.4 - 20 3779 c.3373C>A c.(3373-3375)Ctc>Atc p.L1125I KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.L1194I|KDM2B_ENST00000542973.1_Missense_Mutation_p.L562I NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 1194 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 GGGGACAGGAGATCCCGCATC 0.617000 11 31 6.40141e-05 6.79174e-05 1 1 0 ADD1 118 broad.mit.edu 37 4 2910284 2910284 + Nonsense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr4:2910284C>T ENST00000355842.3 + 13 2421 c.1558C>T c.(1558-1560)Cag>Tag p.Q520* ADD1_ENST00000513328.2_Nonsense_Mutation_p.Q520*|ADD1_ENST00000398125.1_Nonsense_Mutation_p.Q551*|ADD1_ENST00000503455.2_Nonsense_Mutation_p.Q551*|ADD1_ENST00000398129.1_Nonsense_Mutation_p.Q520*|ADD1_ENST00000446856.1_Nonsense_Mutation_p.Q520*|ADD1_ENST00000398123.2_Nonsense_Mutation_p.Q551*|ADD1_ENST00000264758.7_Nonsense_Mutation_p.Q551* P35611 ADDA_HUMAN adducin 1 (alpha) 520 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GGCTGGCCCTCAGTCCCAGGT 0.567000 9 33 0 0 1 0 0 CKMT2 1160 broad.mit.edu 37 5 80554957 80554957 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr5:80554957G>C ENST00000424301.2 + 9 1136 c.898G>C c.(898-900)Gaa>Caa p.E300Q CKMT2-AS1_ENST00000511495.1_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.E300Q|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.E300Q|CKMT2-AS1_ENST00000500148.2_RNA NM_001825.2 NP_001816.2 P17540 KCRS_HUMAN creatine kinase, mitochondrial 2 (sarcomeric) 300 Phosphagen kinase C-terminal. creatine metabolic process|muscle contraction mitochondrial inner membrane ATP binding|creatine kinase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1) 17 Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336) OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34) Creatine(DB00148) GTTAATCCAAGAACGAGGCTG 0.468000 22 104 0 0 1 0 0 OR6N1 128372 broad.mit.edu 37 1 158736156 158736156 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr1:158736156G>C ENST00000335094.2 - 1 336 c.317C>G c.(316-318)tCc>tGc p.S106C NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) CGCTCCAAGGGAGTGAAAGAA 0.502000 4 44 0 0 1 0 0 ZNF224 7767 broad.mit.edu 37 19 44612111 44612111 + Nonsense_Mutation SNP G G T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr19:44612111G>T ENST00000336976.6 + 6 2052 c.1798G>T c.(1798-1800)Gag>Tag p.E600* AC084219.4_ENST00000592946.1_RNA NM_013398.2 NP_037530.2 Q9NZL3 ZN224_HUMAN zinc finger protein 224 600 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) CAAATGTGATGAGTGTGGGAA 0.458000 5 89 0.014758 0.0151498 1 1 0 KIAA0556 23247 broad.mit.edu 37 16 27788330 27788330 + Nonsense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr16:27788330C>T ENST00000261588.4 + 25 4550 c.4531C>T c.(4531-4533)Cga>Tga p.R1511* NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 1511 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 AACACCCCATCGAGGGGTGAA 0.453000 32 203 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49672247 49672247 + Silent SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr16:49672247G>A ENST00000561648.1 - 4 869 c.816C>T c.(814-816)ttC>ttT p.F272F ZNF423_ENST00000262383.2_Silent_p.F272F|ZNF423_ENST00000563137.2_Silent_p.F212F|ZNF423_ENST00000562871.1_Silent_p.F212F|ZNF423_ENST00000562520.1_Silent_p.F212F|ZNF423_ENST00000567169.1_Silent_p.F155F|ZNF423_ENST00000535559.1_Silent_p.F155F NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 272 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding 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) CCGTCTGGCTGAAGGTGTCCT 0.597000 4 25 0 0 1 0 0 KCNC4 3749 broad.mit.edu 37 1 110766506 110766506 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr1:110766506C>G ENST00000369787.3 + 2 1626 c.1599C>G c.(1597-1599)atC>atG p.I533M KCNC4_ENST00000413138.3_Missense_Mutation_p.I533M|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Missense_Mutation_p.I533M NM_004978.4 NP_004969.2 Q03721 KCNC4_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 4 533 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.I533I(2) central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2) 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) AGGGTATGATCGAGAGGAAAC 0.577000 3 18 0 0 1 0 0 BAZ2A 11176 broad.mit.edu 37 12 56996630 56996630 + Silent SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr12:56996630G>A ENST00000179765.5 - 20 3400 c.3201C>T c.(3199-3201)ttC>ttT p.F1067F BAZ2A_ENST00000551812.1_Silent_p.F1099F|BAZ2A_ENST00000549884.1_Silent_p.F1097F|BAZ2A_ENST00000379441.3_Silent_p.F1069F Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 1099 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 TTTTGCGAAAGAAAAGCTGAC 0.483000 5 9 0 0 1 0 0 CCDC117 150275 broad.mit.edu 37 22 29177081 29177081 + Missense_Mutation SNP A A G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr22:29177081A>G ENST00000249064.4 + 3 561 c.385A>G c.(385-387)Att>Gtt p.I129V CCDC117_ENST00000448492.2_Missense_Mutation_p.I111V|CCDC117_ENST00000443309.2_5'UTR|CCDC117_ENST00000421503.2_Intron NM_001284263.1|NM_001284265.1|NM_173510.2 NP_001271192.1|NP_001271194.1|NP_775781.1 Q8IWD4 CC117_HUMAN coiled-coil domain containing 117 129 breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1) 7 ATTAGATGTTATTTGTGAAGA 0.448000 3 25 0 0 1 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2867287 2867287 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr17:2867287C>T ENST00000254695.8 + 7 507 c.417C>T c.(415-417)ctC>ctT p.L139L RAP1GAP2_ENST00000542807.1_Silent_p.L139L|RAP1GAP2_ENST00000366401.4_Silent_p.L124L|CTD-3060P21.1_ENST00000574885.1_RNA|RAP1GAP2_ENST00000540393.2_Silent_p.L120L NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 139 regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 AGGACAACCTCAGCCCCAACA 0.612000 12 40 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30750002 30750002 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr16:30750002C>G ENST00000262518.4 + 34 9026 c.8641C>G c.(8641-8643)Ccc>Gcc p.P2881A SRCAP_ENST00000395059.2_Missense_Mutation_p.P2819A|SRCAP_ENST00000344771.4_Missense_Mutation_p.P2723A NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2881 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GGATGAGGCACCCTCATCCAC 0.582000 4 21 0 0 1 0 0 FLRT1 23769 broad.mit.edu 37 11 63885422 63885422 + Silent SNP G G T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr11:63885422G>T ENST00000246841.3 + 2 2726 c.1683G>T c.(1681-1683)gtG>gtT p.V561V MACROD1_ENST00000255681.6_Intron NM_013280.4 NP_037412.2 Q9NZU1 FLRT1_HUMAN fibronectin leucine rich transmembrane protein 1 533 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1) 14 GCGGGGCAGTGGCTCTGGTCT 0.672000 7 26 8.12818e-05 8.59759e-05 1 1 0 OLAH 55301 broad.mit.edu 37 10 15107623 15107623 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr10:15107623C>T ENST00000378217.3 + 7 789 c.602C>T c.(601-603)tCa>tTa p.S201L OLAH_ENST00000485251.1_3'UTR|OLAH_ENST00000378228.3_Missense_Mutation_p.S148L NM_018324.2 NP_060794.1 Q9NV23 SAST_HUMAN oleoyl-ACP hydrolase 148 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity endometrium(2)|large_intestine(1)|lung(14)|stomach(1) 18 GATGAATTGTCAGAAGAACAA 0.403000 14 48 0 0 1 0 0 PTOV1 53635 broad.mit.edu 37 19 50360994 50360994 + Silent SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr19:50360994C>G ENST00000391842.1 + 7 929 c.759C>G c.(757-759)gtC>gtG p.V253V PTOV1_ENST00000221557.9_Silent_p.V221V|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000601675.1_Silent_p.V253V|PTOV1_ENST00000601638.1_Silent_p.V221V|PTOV1_ENST00000600603.1_Silent_p.V221V|PTOV1_ENST00000599732.1_Silent_p.V253V NM_017432.3 NP_059128.2 Q86YD1 PTOV1_HUMAN prostate tumor overexpressed 1 253 Interaction with FLOT1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|plasma membrane endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1) 16 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) TCCAGATCGTCAACAACAAGT 0.617000 4 18 0 0 1 0 0 HOXB8 3218 broad.mit.edu 37 17 46690726 46690726 + Silent SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr17:46690726G>A ENST00000239144.4 - 2 804 c.570C>T c.(568-570)gtC>gtT p.V190V HOXB7_ENST00000567101.2_Intron|HOXB8_ENST00000576562.1_Silent_p.V189V NM_024016.3 NP_076921.1 P17481 HXB8_HUMAN homeobox B8 190 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(8)|urinary_tract(2) 11 ACCAGATTTTGACCTGTCTCT 0.507000 12 93 0 0 1 0 0 TUBA1A 7846 broad.mit.edu 37 12 49580200 49580200 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr12:49580200C>G ENST00000301071.7 - 3 612 c.268G>C c.(268-270)Gag>Cag p.E90Q TUBA1A_ENST00000550767.1_Missense_Mutation_p.E55Q|TUBA1A_ENST00000546918.1_Silent_p.L140L|TUBA1A_ENST00000295766.5_Missense_Mutation_p.E90Q NM_001270400.1|NM_006009.3 NP_001257329.1|NP_006000.2 Q71U36 TBA1A_HUMAN tubulin, alpha 1a 90 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|structural molecule activity stomach(1)|upper_aerodigestive_tract(1) 2 ATAAGTTGCTCAGGGTGGAAG 0.567000 12 117 0 0 1 0 0 OSGIN1 29948 broad.mit.edu 37 16 83999371 83999371 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr16:83999371C>T ENST00000343939.2 + 7 1825 c.1442C>T c.(1441-1443)tCc>tTc p.S481F OSGIN1_ENST00000393306.1_Missense_Mutation_p.S398F|OSGIN1_ENST00000361711.3_Missense_Mutation_p.S398F Q9UJX0 OSGI1_HUMAN oxidative stress induced growth inhibitor 1 481 cell differentiation|multicellular organismal development|negative regulation of cell growth growth factor activity autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 12 CTCATCGGCTCCCACCCCGAC 0.637000 4 19 0 0 1 0 0 ZNHIT2 741 broad.mit.edu 37 11 64884146 64884146 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr11:64884146C>T ENST00000310597.4 - 1 1024 c.980G>A c.(979-981)aGa>aAa p.R327K NM_014205.2 NP_055020.1 Q9UHR6 ZNHI2_HUMAN zinc finger, HIT-type containing 2 327 metal ion binding breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 TCGCTCTTCTCTAGCCACGGC 0.642000 5 36 0 0 1 0 0 MUT 4594 broad.mit.edu 37 6 49426828 49426828 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr6:49426828C>T ENST00000274813.3 - 2 479 c.352G>A c.(352-354)Gaa>Aaa p.E118K NM_000255.3 NP_000246.2 P22033 MUTA_HUMAN methylmalonyl CoA mutase 118 fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 30 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTATTGCTTTCTTCCACAGTA 0.383000 8 51 0 0 1 0 0 KIAA1683 80726 broad.mit.edu 37 19 18368240 18368240 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr19:18368240G>C ENST00000392413.4 - 4 4069 c.3854C>G c.(3853-3855)tCc>tGc p.S1285C KIAA1683_ENST00000600359.3_Missense_Mutation_p.S1052C|KIAA1683_ENST00000600328.3_Missense_Mutation_p.S1098C NM_001145304.1 NP_001138776.1 Q9H0B3 K1683_HUMAN KIAA1683 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CTGGTAGGCGGAGGCCCAAGA 0.682000 3 20 0 0 1 0 0 WDR17 116966 broad.mit.edu 37 4 177100727 177100727 + Missense_Mutation SNP C C G rs34586919 TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr4:177100727C>G ENST00000393643.2 + 30 4146 c.3894C>G c.(3892-3894)ttC>ttG p.F1298L WDR17_ENST00000280190.4_Missense_Mutation_p.F1322L|WDR17_ENST00000507824.2_Missense_Mutation_p.F1297L|WDR17_ENST00000508596.1_Missense_Mutation_p.F1283L NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 1322 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TCAATCCATTCTGATAGAAGA 0.383000 5 70 0 0 1 0 0 NUP93 9688 broad.mit.edu 37 16 56857751 56857751 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr16:56857751G>C ENST00000564887.1 + 6 1047 c.418G>C c.(418-420)Gag>Cag p.E140Q NUP93_ENST00000542526.1_Missense_Mutation_p.E140Q|NUP93_ENST00000308159.5_Missense_Mutation_p.E263Q|NUP93_ENST00000569842.1_Missense_Mutation_p.E263Q NM_001242795.1 NP_001229724.1 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 263 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 GGCGTACCTTGAGCAGAGGTA 0.542000 10 49 0 0 1 0 0 C5AR1 728 broad.mit.edu 37 19 47823550 47823550 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr19:47823550C>T ENST00000355085.3 + 2 538 c.516C>T c.(514-516)ttC>ttT p.F172F NM_001736.3 NP_001727.1 P21730 C5AR_HUMAN complement component 5a receptor 1 172 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) TACCCTCCTTCCTGTACCGGG 0.617000 4 60 0 0 1 0 0 SALL2 6297 broad.mit.edu 37 14 21993551 21993551 + Missense_Mutation SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr14:21993551G>A ENST00000327430.3 - 2 605 c.311C>T c.(310-312)tCc>tTc p.S104F SALL2_ENST00000450879.2_Missense_Mutation_p.S102F|SALL2_ENST00000317492.5_Missense_Mutation_p.S104F|SALL2_ENST00000538754.1_Missense_Mutation_p.S102F NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 104 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) GGGCACGGAGGACCCAGAATC 0.622000 5 42 0 0 1 0 0 DNASE2B 58511 broad.mit.edu 37 1 84880516 84880516 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr1:84880516C>G ENST00000370665.3 + 6 1084 c.1051C>G c.(1051-1053)Caa>Gaa p.Q351E DNASE2B_ENST00000370662.3_Missense_Mutation_p.Q143E NM_021233.2 NP_067056.2 Q8WZ79 DNS2B_HUMAN deoxyribonuclease II beta 351 DNA metabolic process lysosome deoxyribonuclease II activity endometrium(1)|lung(4)|skin(1) 6 all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808) CCAAGCATTTCAAGGATTAGT 0.403000 5 46 0 0 1 0 0 PDXDC1 23042 broad.mit.edu 37 16 15103587 15103587 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr16:15103587G>C ENST00000396410.4 + 8 795 c.698G>C c.(697-699)aGa>aCa p.R233T PDXDC1_ENST00000447912.2_Missense_Mutation_p.R142T|PDXDC1_ENST00000535621.2_Missense_Mutation_p.R233T|PDXDC1_ENST00000455313.2_Missense_Mutation_p.R210T|PDXDC1_ENST00000450288.2_Missense_Mutation_p.R205T|PDXDC1_ENST00000563679.1_Missense_Mutation_p.R251T|PDXDC1_ENST00000325823.7_Missense_Mutation_p.R218T|PDXDC1_ENST00000569715.1_Missense_Mutation_p.R206T NM_015027.2 NP_055842.2 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain containing 1 233 carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) GAGCGAGGAAGACTGCCCCTG 0.418000 5 150 0 0 1 0 0 FAM65A 79567 broad.mit.edu 37 16 67575861 67575861 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr16:67575861C>T ENST00000540839.3 + 14 1452 c.1232C>T c.(1231-1233)tCa>tTa p.S411L FAM65A_ENST00000379312.3_Missense_Mutation_p.S395L|FAM65A_ENST00000422602.2_Missense_Mutation_p.S411L|FAM65A_ENST00000428437.2_Missense_Mutation_p.S405L|FAM65A_ENST00000042381.4_Missense_Mutation_p.S391L Q6ZS17 FA65A_HUMAN family with sequence similarity 65, member A 395 cytoplasm binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) CCACAGCTCTCAGGCACTGCC 0.622000 4 42 0 0 1 0 0 TUBA1A 7846 broad.mit.edu 37 12 49579389 49579389 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr12:49579389C>G ENST00000301071.7 - 4 1104 c.760G>C c.(760-762)Gaa>Caa p.E254Q TUBA1A_ENST00000550767.1_Missense_Mutation_p.E219Q|TUBA1A_ENST00000295766.5_Missense_Mutation_p.E254Q NM_001270400.1|NM_006009.3 NP_001257329.1|NP_006000.2 Q71U36 TBA1A_HUMAN tubulin, alpha 1a 254 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|structural molecule activity stomach(1)|upper_aerodigestive_tract(1) 2 GTCTGGAATTCTGTCAGGTCA 0.498000 6 55 0 0 1 0 0 C17orf80 55028 broad.mit.edu 37 17 71232313 71232313 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr17:71232313C>T ENST00000359042.2 + 3 886 c.692C>T c.(691-693)tCt>tTt p.S231F C17orf80_ENST00000268942.8_Missense_Mutation_p.S231F|C17orf80_ENST00000577615.1_Missense_Mutation_p.S231F|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000255557.4_Missense_Mutation_p.S231F|C17orf80_ENST00000535032.2_Missense_Mutation_p.S231F|C17orf80_ENST00000426147.2_Missense_Mutation_p.S231F|FAM104A_ENST00000583178.1_Intron NM_017941.4 NP_060411 Q9BSJ5 CQ080_HUMAN chromosome 17 open reading frame 80 231 integral to membrane kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(166;0.197) TGTCATATTTCTCCAAAGAAT 0.403000 23 48 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152642879 152642879 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr6:152642879C>T ENST00000367255.5 - 83 16661 c.16060G>A c.(16060-16062)Gat>Aat p.D5354N SYNE1_ENST00000448038.1_Missense_Mutation_p.D5283N|SYNE1_ENST00000341594.5_Missense_Mutation_p.D5027N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D5354N|SYNE1_ENST00000423061.1_Missense_Mutation_p.D5283N NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5354 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) AGTTGAGCATCTATTTCTATT 0.368000 HNSCC(10;0.0054) 5 42 0 0 1 0 0 MINK1 50488 broad.mit.edu 37 17 4795963 4795963 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr17:4795963C>T ENST00000355280.6 + 19 2407 c.2211C>T c.(2209-2211)ctC>ctT p.L737L MINK1_ENST00000453408.3_Silent_p.L717L|MINK1_ENST00000347992.7_Silent_p.L700L NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 737 JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 ACCCCGACCTCAGGAGGAGCG 0.677000 8 37 0 0 1 0 0 SRMS 6725 broad.mit.edu 37 20 62172280 62172280 + Missense_Mutation SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr20:62172280G>A ENST00000217188.1 - 8 1398 c.1358C>T c.(1357-1359)gCg>gTg p.A453V NM_080823.2 NP_543013.1 Q9H3Y6 SRMS_HUMAN src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites 453 Protein kinase. A -> T (in dbSNP:rs310655). ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1) 19 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) GTAGACCTCCGCCGGGCAGGC 0.692000 4 66 0 0 1 0 0 KIF3C 3797 broad.mit.edu 37 2 26152240 26152240 + Missense_Mutation SNP C C A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr2:26152240C>A ENST00000264712.3 - 7 2801 c.2222G>T c.(2221-2223)aGg>aTg p.R741M KIF3C_ENST00000405914.1_Missense_Mutation_p.R741M NM_002254.6 NP_002245 O14782 KIF3C_HUMAN kinesin family member 3C 741 Globular (Potential). blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCGCATGAGCCTCTCCATGTG 0.512000 11 56 4.68919e-08 5.11548e-08 1 1 0 MUC4 4585 broad.mit.edu 37 3 195484071 195484071 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr3:195484071C>G ENST00000463781.3 - 18 15574 c.15115G>C c.(15115-15117)Gag>Cag p.E5039Q MUC4_ENST00000475231.1_Missense_Mutation_p.E4987Q|MUC4_ENST00000346145.4_Missense_Mutation_p.E803Q|MUC4_ENST00000349607.4_Missense_Mutation_p.E752Q NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1796 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CACTGGCTCTCTGCATTGCAA 0.572000 8 44 0 0 1 0 0 BRD7 29117 broad.mit.edu 37 16 50357509 50357509 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr16:50357509C>G ENST00000394688.3 - 12 1591 c.1432G>C c.(1432-1434)Gag>Cag p.E478Q BRD7_ENST00000394689.2_Missense_Mutation_p.E478Q Q9NPI1 BRD7_HUMAN bromodomain containing 7 478 cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleus histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2) 22 all_cancers(37;0.0127) ATCTCCATCTCTTGTAGGGTC 0.398000 10 88 0 0 1 0 0 CSN3 1448 broad.mit.edu 37 4 71114859 71114859 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr4:71114859C>T ENST00000304954.3 + 4 318 c.232C>T c.(232-234)Cgc>Tgc p.R78C NM_005212.2 NP_005203.2 P07498 CASK_HUMAN casein kappa 78 extracellular region protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 ATATGTGCCTCGCACATATTA 0.448000 9 33 0 0 1 0 0 CAND1 55832 broad.mit.edu 37 12 67696264 67696264 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr12:67696264G>C ENST00000545606.1 + 8 1599 c.1162G>C c.(1162-1164)Gag>Cag p.E388Q NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 388 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) AGAGCGTGAAGAGAATGTAAA 0.438000 12 124 0 0 1 0 0 TNFRSF11A 8792 broad.mit.edu 37 18 60015412 60015412 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr18:60015412G>C ENST00000586569.1 + 2 125 c.87G>C c.(85-87)caG>caC p.Q29H TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.Q29H NM_001270949.1|NM_003839.3 NP_001257878.1|NP_003830.1 Q9Y6Q6 TNR11_HUMAN tumor necrosis factor receptor superfamily, member 11a, NFKB activator 29 adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide external side of plasma membrane|integral to membrane metal ion binding|tumor necrosis factor receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1) 29 Colorectal(73;0.188) TGGCTTTGCAGATCGCTCCTC 0.463000 8 42 0 0 1 0 0 EOGT 285203 broad.mit.edu 37 3 69050835 69050835 + Silent SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr3:69050835G>C ENST00000383701.3 - 9 1393 c.651C>G c.(649-651)ctC>ctG p.L217L EOGT_ENST00000540764.1_Silent_p.L116L|EOGT_ENST00000295571.5_Silent_p.L217L|EOGT_ENST00000540955.1_Intron NM_001278689.1 NP_001265618.1 EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase GTCTGAAGTTGAGCTGAGTAT 0.338000 14 75 0 0 1 0 0 ZNF324B 388569 broad.mit.edu 37 19 58966785 58966785 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr19:58966785C>T ENST00000391696.1 + 3 1376 c.444C>T c.(442-444)atC>atT p.I148I ZNF324B_ENST00000545523.1_Silent_p.I158I|ZNF324B_ENST00000336614.4_Silent_p.I158I Q6AW86 Z324B_HUMAN zinc finger protein 324B 158 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) AGGCCAGCATCAGCCTGCGAC 0.657000 6 46 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90455131 90455131 + Splice_Site SNP C C A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr6:90455131C>A ENST00000369393.3 - 29 4155 c.e29-1 MDN1_ENST00000428876.1_Splice_Site Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GACAATTTACCTATCCAAGGA 0.403000 4 53 0.00909568 0.00936478 1 1 0 LGR5 8549 broad.mit.edu 37 12 71960661 71960661 + Missense_Mutation SNP G G T rs148862507 byFrequency TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr12:71960661G>T ENST00000266674.5 + 11 1350 c.1039G>T c.(1039-1041)Gtc>Ttc p.V347F LGR5_ENST00000540815.2_Missense_Mutation_p.V323F|LGR5_ENST00000536515.1_Missense_Mutation_p.V275F O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 347 integral to plasma membrane protein-hormone receptor activity p.V347L(1) NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 TCCTCAAACCGTCTGCAATCA 0.403000 7 52 0.27861 0.280221 1 1 0 HTR1E 3354 broad.mit.edu 37 6 87726069 87726069 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr6:87726069C>T ENST00000305344.5 + 2 1720 c.1017C>T c.(1015-1017)atC>atT p.I339I NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) ATTCTCTGATCAACCCTCTGC 0.423000 15 92 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107599778 107599778 + Silent SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr9:107599778C>G ENST00000374736.3 - 10 1519 c.1125G>C c.(1123-1125)ctG>ctC p.L375L NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 375 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GCAGCGGCTTCAGAGCTTTCC 0.507000 8 33 0 0 1 0 0 EPM2AIP1 9852 broad.mit.edu 37 3 37033509 37033509 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr3:37033509G>C ENST00000322716.5 - 1 1286 c.1060C>G c.(1060-1062)Cta>Gta p.L354V NM_014805.3 NP_055620.1 Q7L775 EPMIP_HUMAN EPM2A (laforin) interacting protein 1 354 endoplasmic reticulum breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2) 27 TCTTTTCTTAGAGAGAATATT 0.403000 9 108 0 0 1 0 0 ARHGAP10 79658 broad.mit.edu 37 4 148886219 148886219 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr4:148886219G>C ENST00000336498.3 + 17 1734 c.1495G>C c.(1495-1497)Gta>Cta p.V499L ARHGAP10_ENST00000414545.2_Missense_Mutation_p.V148L NM_024605.3 NP_078881.3 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 499 Rho-GAP. apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) CCATTTCTTGGTACACAAACT 0.313000 3 43 0 0 1 0 0 CTC1 80169 broad.mit.edu 37 17 8139168 8139168 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr17:8139168C>T ENST00000315684.8 - 7 1194 c.1187G>A c.(1186-1188)cGa>cAa p.R396Q NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 396 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 CACTCCAGGTCGCATCACCCG 0.562000 3 22 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13601280 13601280 + Missense_Mutation SNP T T C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr4:13601280T>C ENST00000040738.5 - 10 7379 c.7244A>G c.(7243-7245)aAg>aGg p.K2415R NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 2415 DNA binding TGCAGAGGGCTTGTGGACTGA 0.577000 12 129 0 0 1 0 0 EFCAB5 374786 broad.mit.edu 37 17 28380717 28380717 + Nonsense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr17:28380717C>G ENST00000394835.3 + 10 1937 c.1745C>G c.(1744-1746)tCa>tGa p.S582* EFCAB5_ENST00000536908.2_Nonsense_Mutation_p.S526*|EFCAB5_ENST00000320856.5_Nonsense_Mutation_p.S582*|EFCAB5_ENST00000541045.1_Nonsense_Mutation_p.S239*|EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.S582*|EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.S582* NM_198529.3 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 582 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 CACAAAGGGTCAATAGAAGGA 0.458000 22 79 0 0 1 0 0 KRT4 3851 broad.mit.edu 37 12 53207390 53207390 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr12:53207390G>C ENST00000293774.4 - 1 945 c.675C>G c.(673-675)ttC>ttG p.F225L KRT4_ENST00000551956.1_Missense_Mutation_p.F151L|KRT4_ENST00000458244.2_Missense_Mutation_p.F131L B4DRS2 B4DRS2_HUMAN keratin 4 151 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 CCTTGTCGATGAAGGAGGCAA 0.587000 24 123 0 0 1 0 0 SYNRG 11276 broad.mit.edu 37 17 35936484 35936484 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr17:35936484G>C ENST00000339208.6 - 8 996 c.856C>G c.(856-858)Cag>Gag p.Q286E SYNRG_ENST00000585472.1_Missense_Mutation_p.Q207E|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000502449.2_Missense_Mutation_p.Q208E|SYNRG_ENST00000394378.2_Missense_Mutation_p.Q208E|SYNRG_ENST00000346661.4_Missense_Mutation_p.Q286E|SYNRG_ENST00000345615.4_Missense_Mutation_p.Q208E|SYNRG_ENST00000591288.1_Missense_Mutation_p.Q208E NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 286 endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 ATTCTGGGCTGAGCAGGATCC 0.413000 6 34 0 0 1 0 0 CTSV 1515 broad.mit.edu 37 9 99795261 99795261 + Silent SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr9:99795261G>A ENST00000259470.5 - 8 1224 c.975C>T c.(973-975)atC>atT p.I325I CTSV_ENST00000538255.1_Silent_p.I325I NM_001333.3 NP_001324.2 cathepsin V p.I325I(2) CTGCTGTGGCGATTCCACAGT 0.473000 14 42 0 0 1 0 0 C5orf45 51149 broad.mit.edu 37 5 179268950 179268950 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr5:179268950C>G ENST00000518219.1 - 5 417 c.406G>C c.(406-408)Gag>Cag p.E136Q C5orf45_ENST00000292586.6_Missense_Mutation_p.E136Q|C5orf45_ENST00000523267.1_Intron|C5orf45_ENST00000521333.1_Intron|C5orf45_ENST00000403396.2_Missense_Mutation_p.E178Q|C5orf45_ENST00000376931.2_Missense_Mutation_p.E81Q|C5orf45_ENST00000523084.1_Missense_Mutation_p.E2Q|C5orf45_ENST00000518235.1_Missense_Mutation_p.E136Q|C5orf45_ENST00000520698.1_Missense_Mutation_p.E81Q Q6NTE8 CE045_HUMAN chromosome 5 open reading frame 45 136 breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 CCTGGCTCCTCCATTTTGGAT 0.557000 18 245 0 0 1 0 0 MCF2L2 23101 broad.mit.edu 37 3 182910873 182910873 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr3:182910873C>T ENST00000328913.3 - 27 3227 c.2930G>A c.(2929-2931)gGa>gAa p.G977E MCF2L2_ENST00000473233.1_Missense_Mutation_p.G977E|MCF2L2_ENST00000468976.1_5'UTR NM_015078.2 NP_055893 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 977 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) GGATCCTGCTCCACTGCCTTT 0.512000 5 87 0 0 1 0 0 RBM48 84060 broad.mit.edu 37 7 92164070 92164070 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr7:92164070C>T ENST00000481551.1 + 4 844 c.803C>T c.(802-804)tCa>tTa p.S268L RBM48_ENST00000265732.5_Missense_Mutation_p.S268L Q5RL73 CG064_HUMAN RNA binding motif protein 48 268 nucleotide binding ATTACGTCTTCAGAGGCAGTT 0.423000 7 31 0 0 1 0 0 UBR1 197131 broad.mit.edu 37 15 43351354 43351354 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr15:43351354C>G ENST00000290650.4 - 9 1100 c.1022G>C c.(1021-1023)aGa>aCa p.R341T UBR1_ENST00000382177.2_Missense_Mutation_p.R341T NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 341 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) AGGTTCTTCTCTAAGGCATGC 0.378000 6 70 0 0 1 0 0 B3GAT2 135152 broad.mit.edu 37 6 71603972 71603972 + Silent SNP G G T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr6:71603972G>T ENST00000230053.6 - 2 1203 c.595C>A c.(595-597)Cga>Aga p.R199R NM_080742.2 NP_542780.1 Q9NPZ5 B3GA2_HUMAN beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S) 199 carbohydrate biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding p.R199G(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 CGGGTGGTTCGCATCTATAAA 0.502000 4 26 0.00024832 0.000258729 1 1 0 GDF5 8200 broad.mit.edu 37 20 34025208 34025208 + Silent SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr20:34025208G>A ENST00000374372.1 - 3 1004 c.501C>T c.(499-501)atC>atT p.I167I GDF5_ENST00000374369.3_Silent_p.I167I P43026 GDF5_HUMAN growth differentiation factor 5 167 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) CGTGGGGTGTGATGGGGGGTG 0.632000 10 45 0 0 1 0 0 WDR76 79968 broad.mit.edu 37 15 44120502 44120502 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr15:44120502C>T ENST00000263795.6 + 2 470 c.400C>T c.(400-402)Ctc>Ttc p.L134F WDR76_ENST00000381246.2_Missense_Mutation_p.L70F NM_001167941.1|NM_024908.3 NP_001161413.1|NP_079184.2 Q9H967 WDR76_HUMAN WD repeat domain 76 134 breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2) 20 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07) TGCGATGAATCTCAGTGTTGA 0.433000 6 44 0 0 1 0 0 ZAP70 7535 broad.mit.edu 37 2 98340718 98340718 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr2:98340718C>T ENST00000264972.5 + 3 434 c.219C>T c.(217-219)ggC>ggT p.G73G NM_001079.3 NP_001070.2 P43403 ZAP70_HUMAN zeta-chain (TCR) associated protein kinase 70kDa 73 SH2 1. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 29 CCATTGCCGGCGGCAAAGCGC 0.677000 7 6 0 0 1 0 0 MAS1L 116511 broad.mit.edu 37 6 29455303 29455303 + Nonsense_Mutation SNP G G T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr6:29455303G>T ENST00000377127.3 - 1 435 c.377C>A c.(376-378)tCg>tAg p.S126* NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 126 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 CCCCACTGCCGAGCAGCAAAG 0.502000 6 40 2.0095e-06 2.16503e-06 1 1 0 FAM49B 51571 broad.mit.edu 37 8 130859062 130859062 + Missense_Mutation SNP A A G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr8:130859062A>G ENST00000519824.2 - 11 1172 c.899T>C c.(898-900)cTa>cCa p.L300P FAM49B_ENST00000522746.1_Missense_Mutation_p.L300P|FAM49B_ENST00000519540.1_Missense_Mutation_p.L300P|FAM49B_ENST00000522941.1_Missense_Mutation_p.L154P|FAM49B_ENST00000517654.1_Missense_Mutation_p.L300P|FAM49B_ENST00000523509.1_Missense_Mutation_p.L300P|FAM49B_ENST00000401979.2_Missense_Mutation_p.L300P|FAM49B_ENST00000522250.1_Missense_Mutation_p.L154P|FAM49B_ENST00000519110.1_Missense_Mutation_p.L300P NM_016623.4 NP_057707.3 Q9NUQ9 FA49B_HUMAN family with sequence similarity 49, member B 300 kidney(1)|large_intestine(6)|lung(4)|prostate(1) 12 Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155) LUAD - Lung adenocarcinoma(14;0.0989) GAGAGCATTTAGAAGACCTTC 0.333000 5 35 0 0 1 0 0 KIF3C 3797 broad.mit.edu 37 2 26152239 26152239 + Missense_Mutation SNP C C A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr2:26152239C>A ENST00000264712.3 - 7 2802 c.2223G>T c.(2221-2223)agG>agT p.R741S KIF3C_ENST00000405914.1_Missense_Mutation_p.R741S NM_002254.6 NP_002245 O14782 KIF3C_HUMAN kinesin family member 3C 741 Globular (Potential). blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATCGCATGAGCCTCTCCATGT 0.517000 11 53 4.68919e-08 5.11548e-08 1 1 0 AHNAK2 113146 broad.mit.edu 37 14 105404438 105404438 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr14:105404438C>T ENST00000333244.5 - 7 17469 c.17350G>A c.(17350-17352)Gaa>Aaa p.E5784K AHNAK2_ENST00000557457.1_Missense_Mutation_p.E782K NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5784 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCTTTGCTTTCATCGTCAGCT 0.517000 8 28 0 0 1 0 0 ROBO3 64221 broad.mit.edu 37 11 124747180 124747180 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr11:124747180G>C ENST00000397801.1 + 19 3013 c.2821G>C c.(2821-2823)Gag>Cag p.E941Q ROBO3_ENST00000538940.1_Missense_Mutation_p.E919Q|ROBO3_ENST00000525482.1_Intron NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 941 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) CCCGCACTCAGAGGGCCTCTC 0.617000 19 53 0 0 1 0 0 ZNF28 7576 broad.mit.edu 37 19 53304827 53304827 + Nonstop_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr19:53304827C>G ENST00000594602.1 - 5 490 c.389G>C c.(388-390)tGa>tCa p.*130S ZNF28_ENST00000457749.2_Missense_Mutation_p.E91Q|ZNF28_ENST00000438150.2_Missense_Mutation_p.E38Q|ZNF28_ENST00000360272.4_Missense_Mutation_p.E38Q|ZNF28_ENST00000414252.2_Missense_Mutation_p.E38Q|ZNF28_ENST00000339844.6_Nonstop_Mutation_p.*80S P17035 ZNF28_HUMAN zinc finger protein 28 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) ATGTCTTTCTCAATTTTCTGG 0.423000 60 206 0 0 1 0 0 TMEM202 338949 broad.mit.edu 37 15 72691086 72691086 + Silent SNP G G A rs148667101 byFrequency TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr15:72691086G>A ENST00000341689.3 + 2 228 c.174G>A c.(172-174)acG>acA p.T58T TMEM202_ENST00000567679.1_Intron NM_001080462.1 NP_001073931.1 A6NGA9 TM202_HUMAN transmembrane protein 202 58 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 18 ACATCCGAACGCTCTGTGGCA 0.522000 10 57 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13071095 13071095 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr18:13071095C>T ENST00000506447.1 + 28 5312 c.5232C>T c.(5230-5232)ggC>ggT p.G1744G CEP192_ENST00000430049.2_Silent_p.G1269G|CEP192_ENST00000325971.8_Silent_p.G1148G NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1339 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TGTTAAAAGGCGAAGTCATTT 0.398000 14 71 0 0 1 0 0 TNNC2 7125 broad.mit.edu 37 20 44453228 44453228 + Silent SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr20:44453228G>A ENST00000372557.1 - 4 267 c.60C>T c.(58-60)atC>atT p.I20I TNNC2_ENST00000372555.3_Silent_p.I35I P02585 TNNC2_HUMAN troponin C type 2 (fast) 35 EF-hand 1. muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium ion binding endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(115;0.0122) CCTTGACGCTGATGTCCCCAC 0.607000 6 33 0 0 1 0 0 IGFN1 91156 broad.mit.edu 37 1 201184692 201184692 + Silent SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr1:201184692G>A ENST00000335211.4 + 15 9151 c.9021G>A c.(9019-9021)gtG>gtA p.V3007V IGFN1_ENST00000451870.2_Silent_p.V550V|IGFN1_ENST00000295591.8_Silent_p.V167V NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CTCCAGATGTGACAGAGAAAC 0.537000 6 37 0 0 1 0 0 OR4M1 441670 broad.mit.edu 37 14 20248624 20248624 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr14:20248624C>T ENST00000315957.4 + 1 224 c.143C>T c.(142-144)aCc>aTc p.T48I NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATCATTTGCACCATCAGGCTA 0.428000 17 281 0 0 1 0 0 WAC 51322 broad.mit.edu 37 10 28903528 28903528 + Silent SNP G G T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr10:28903528G>T ENST00000375664.4 + 11 1944 c.1335G>T c.(1333-1335)gtG>gtT p.V445V WAC_ENST00000375646.1_Silent_p.V338V|WAC_ENST00000354911.4_Silent_p.V490V|WAC_ENST00000347934.4_Silent_p.V387V Q9BTA9 WAC_HUMAN WW domain containing adaptor with coiled-coil cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1) 32 AAGGACCAGTGTCACAGTCAG 0.473000 8 41 0.0381472 0.0388165 1 1 0 URGCP 55665 broad.mit.edu 37 7 43917824 43917824 + Nonsense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr7:43917824G>C ENST00000336086.6 - 4 3345 c.1109C>G c.(1108-1110)tCa>tGa p.S370* URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_Nonsense_Mutation_p.S370*|URGCP_ENST00000447717.3_Nonsense_Mutation_p.S370*|URGCP_ENST00000223341.7_Nonsense_Mutation_p.S370*|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000402306.3_Nonsense_Mutation_p.S404*|URGCP_ENST00000453200.1_Nonsense_Mutation_p.S413* Q8TCY9 URGCP_HUMAN upregulator of cell proliferation 413 cell cycle centrosome|nucleus GTP binding breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CAGGACATGTGAGTGGTCTAT 0.512000 6 111 0 0 1 0 0 HPS5 11234 broad.mit.edu 37 11 18319125 18319125 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr11:18319125C>T ENST00000396253.3 - 10 1424 c.962G>A c.(961-963)aGa>aAa p.R321K HPS5_ENST00000438420.2_Missense_Mutation_p.R321K|HPS5_ENST00000349215.3_Missense_Mutation_p.R435K|HPS5_ENST00000531848.1_Missense_Mutation_p.R321K NM_007216.3 NP_009147.3 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 435 cytosol breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 AATGGAGCTTCTTCTACTGCT 0.373000 Hermansky-Pudlak syndrome 5 38 0 0 1 0 0 LRRC34 151827 broad.mit.edu 37 3 169514662 169514662 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr3:169514662C>T ENST00000522526.2 - 7 1120 c.683G>A c.(682-684)cGc>cAc p.R228H LRRC34_ENST00000524327.1_5'UTR|LRRC34_ENST00000446859.1_Missense_Mutation_p.R260H|LRRC34_ENST00000522830.1_Missense_Mutation_p.R199H|LRRC34_ENST00000316515.7_Missense_Mutation_p.R215H Q8IZ02 LRC34_HUMAN leucine rich repeat containing 34 215 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2) 10 all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) TTTCAACATGCGGCCTACATG 0.328000 3 55 0 0 1 0 0 C12orf55 144535 broad.mit.edu 37 12 97051864 97051864 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr12:97051864C>G ENST00000524981.4 + 37 5328 c.5305C>G c.(5305-5307)Cag>Gag p.Q1769E chromosome 12 open reading frame 55 TCTTGCCATTCAGTTCAATAC 0.303000 8 49 0 0 1 0 0 GAB1 2549 broad.mit.edu 37 4 144359666 144359666 + Missense_Mutation SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr4:144359666G>A ENST00000262995.4 + 4 1535 c.1108G>A c.(1108-1110)Gac>Aac p.D370N GAB1_ENST00000262994.4_Missense_Mutation_p.D370N|GAB1_ENST00000505913.1_Missense_Mutation_p.D267N NM_207123.2 NP_997006.1 Q13480 GAB1_HUMAN GRB2-associated binding protein 1 370 cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 30 all_hematologic(180;0.158) CTCAGACACTGACAGTAGTTA 0.483000 14 48 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124349173 124349173 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr12:124349173C>G ENST00000409039.3 + 39 6611 c.6586C>G c.(6586-6588)Cta>Gta p.L2196V NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2196 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TGTGGATGCTCTATGGGTGGA 0.468000 3 40 0 0 1 0 0 UBA7 7318 broad.mit.edu 37 3 49845268 49845268 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr3:49845268C>T ENST00000333486.3 - 21 2774 c.2616G>A c.(2614-2616)gtG>gtA p.V872V NM_003335.2 NP_003326.2 P41226 UBA7_HUMAN ubiquitin-like modifier activating enzyme 7 872 ISG15-protein conjugation|negative regulation of type I interferon production cytosol ATP binding|ISG15 activating enzyme activity|ligase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) GTGGCCCACTCACCACCTTAT 0.572000 4 17 0 0 1 0 0 PTBP3 9991 broad.mit.edu 37 9 115060143 115060143 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr9:115060143C>T ENST00000334318.6 - 3 282 c.96G>A c.(94-96)atG>atA p.M32I PTBP3_ENST00000343327.2_5'UTR|PTBP3_ENST00000458258.1_Missense_Mutation_p.M38I|PTBP3_ENST00000487997.1_Intron|PTBP3_ENST00000374257.1_Start_Codon_SNP_p.M1I|PTBP3_ENST00000374255.2_Missense_Mutation_p.M32I NM_001163790.2|NM_005156.6 NP_001157262.1|NP_005147.3 O95758 ROD1_HUMAN polypyrimidine tract binding protein 3 32 anatomical structure morphogenesis|mRNA processing nucleus nucleotide binding|RNA binding TAGAACTATTCATGGTAAAAG 0.323000 18 60 0 0 1 0 0 SEC24A 10802 broad.mit.edu 37 5 134015330 134015330 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr5:134015330C>T ENST00000398844.2 + 8 1581 c.1293C>T c.(1291-1293)tgC>tgT p.C431C SEC24A_ENST00000322887.4_Silent_p.C431C NM_021982.2 NP_068817.1 O95486 SC24A_HUMAN SEC24 family member A 431 Zinc finger-like. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTGTGAGATGCCGTTCATGCA 0.368000 4 92 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31598196 31598196 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr14:31598196C>T ENST00000399332.1 - 25 4869 c.4381G>A c.(4381-4383)Gaa>Aaa p.E1461K HECTD1_ENST00000553700.1_Missense_Mutation_p.E1461K NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 1461 Ser-rich. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) AACTTCCTTTCAGCATTTTCA 0.458000 15 81 0 0 1 0 0 AP1G1 164 broad.mit.edu 37 16 71807214 71807214 + Silent SNP G G T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr16:71807214G>T ENST00000299980.4 - 4 819 c.378C>A c.(376-378)ctC>ctA p.L126L AP1G1_ENST00000569748.1_Silent_p.L126L|AP1G1_ENST00000423132.2_Silent_p.L126L|AP1G1_ENST00000433195.2_Silent_p.L149L|AP1G1_ENST00000393512.3_Silent_p.L126L NM_001128.5 NP_001119.3 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit 126 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) CCATGCAGCCGAGGGTACAAA 0.458000 8 50 2.17888e-05 2.31881e-05 1 1 0 CD55 1604 broad.mit.edu 37 1 207495849 207495849 + Missense_Mutation SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr1:207495849G>A ENST00000367064.3 + 2 481 c.223G>A c.(223-225)Gag>Aag p.E75K CD55_ENST00000367062.4_Missense_Mutation_p.E75K|CD55_ENST00000367063.2_Missense_Mutation_p.E75K|CD55_ENST00000391921.4_Missense_Mutation_p.E75K|CD55_ENST00000391920.4_Missense_Mutation_p.E75K|CD55_ENST00000367065.5_Missense_Mutation_p.E75K|CD55_ENST00000314754.8_Missense_Mutation_p.E75K|CD55_ENST00000367067.4_Missense_Mutation_p.E75K NM_000574.3 NP_000565.1 P08174 DAF_HUMAN CD55 molecule, decay accelerating factor for complement (Cromer blood group) 75 Sushi 1. complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 Chloramphenicol(DB00446) AATTCCTGGCGAGAAGGACTC 0.423000 8 44 0 0 1 0 0 CDK4 1019 broad.mit.edu 37 12 58145064 58145064 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr12:58145064C>T ENST00000257904.6 - 3 645 c.280G>A c.(280-282)Gag>Aag p.E94K CDK4_ENST00000551888.1_Intron|CDK4_ENST00000540325.1_Intron|CDK4_ENST00000312990.6_Intron|CDK4_ENST00000549606.1_Intron NM_000075.3 NP_000066.1 P11802 CDK4_HUMAN cyclin-dependent kinase 4 94 Protein kinase. cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 21 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) TCTACATGCTCAAACACCAGG 0.527000 Mis melanoma Hereditary Melanoma 8 55 0 0 1 0 0 CYGB 114757 broad.mit.edu 37 17 74527171 74527171 + Silent SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr17:74527171G>A ENST00000293230.5 - 3 791 c.429C>T c.(427-429)ttC>ttT p.F143F CYGB_ENST00000589145.1_Silent_p.F78F|PRCD_ENST00000592432.1_Intron|CYGB_ENST00000590175.1_Silent_p.F78F|CYGB_ENST00000589342.1_Intron NM_134268.4 NP_599030.1 Q8WWM9 CYGB_HUMAN cytoglobin 143 Globin. response to oxidative stress cytoplasm heme binding|oxygen binding|oxygen transporter activity|peroxidase activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1) 7 TCTCAGGTGGGAAGTCACTGG 0.647000 7 24 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154157347 154157347 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chrX:154157347G>C ENST00000360256.4 - 14 4918 c.4718C>G c.(4717-4719)tCt>tGt p.S1573C NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1573 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AGTCTTTGCAGAGCTTTCTGT 0.468000 49 81 0 0 1 0 0 KRT78 196374 broad.mit.edu 37 12 53237915 53237915 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr12:53237915G>C ENST00000359499.4 - 6 690 c.679C>G c.(679-681)Cag>Gag p.Q227E KRT78_ENST00000304620.4_Missense_Mutation_p.Q337E Q8N1N4 K2C78_HUMAN keratin 78 337 Coil 1B.|Rod. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 TGCAGCCTCTGAATCTCTTGG 0.517000 17 97 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49672222 49672222 + Missense_Mutation SNP G G T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr16:49672222G>T ENST00000561648.1 - 4 894 c.841C>A c.(841-843)Cac>Aac p.H281N ZNF423_ENST00000262383.2_Missense_Mutation_p.H281N|ZNF423_ENST00000563137.2_Missense_Mutation_p.H221N|ZNF423_ENST00000562871.1_Missense_Mutation_p.H221N|ZNF423_ENST00000562520.1_Missense_Mutation_p.H221N|ZNF423_ENST00000567169.1_Missense_Mutation_p.H164N|ZNF423_ENST00000535559.1_Missense_Mutation_p.H164N NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 281 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding 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) GTGAGCACGTGCTTCTCCAGC 0.597000 4 30 0.00024832 0.000258729 1 1 0 ZBTB22 9278 broad.mit.edu 37 6 33284271 33284271 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr6:33284271G>C ENST00000431845.2 - 2 574 c.423C>G c.(421-423)gaC>gaG p.D141E ZBTB22_ENST00000418724.1_Missense_Mutation_p.D141E NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 CAGTGCACTTGTCCACAATGT 0.577000 9 72 0 0 1 0 0 ZNF12 7559 broad.mit.edu 37 7 6731177 6731177 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr7:6731177C>G ENST00000405858.1 - 5 1937 c.1396G>C c.(1396-1398)Gaa>Caa p.E466Q ZNF12_ENST00000404360.1_Missense_Mutation_p.E392Q|ZNF12_ENST00000342651.5_Missense_Mutation_p.E428Q|AC073343.13_ENST00000366167.2_RNA NM_006956.2|NM_016265.3 NP_008887.2|NP_057349.2 P17014 ZNF12_HUMAN zinc finger protein 12 466 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3) 16 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) TCATTACATTCATAGGGTTTC 0.398000 7 91 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140347337 140347337 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr5:140347337C>T ENST00000289269.5 + 1 1518 c.986C>T c.(985-987)tCc>tTc p.S329F PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 329 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGGAAGCCTCCTCCTACCAG 0.582000 3 23 0 0 1 0 0 ST8SIA5 29906 broad.mit.edu 37 18 44260223 44260223 + Silent SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr18:44260223G>A ENST00000315087.7 - 7 1573 c.913C>T c.(913-915)Ctg>Ttg p.L305L ST8SIA5_ENST00000536490.1_Silent_p.L274L|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Silent_p.L341L NM_013305.4 NP_037437.2 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 305 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 22 GCAGTGACCAGAATGAGGCCG 0.612000 5 69 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130926714 130926714 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr12:130926714C>T ENST00000261655.4 - 8 1295 c.1132G>A c.(1132-1134)Gat>Aat p.D378N RIMBP2_ENST00000535703.1_Missense_Mutation_p.D286N|RIMBP2_ENST00000536002.1_Missense_Mutation_p.D286N NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 378 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TGCAGCTCATCCGAGCTGCCC 0.642000 4 30 0 0 1 0 0 ATAD3B 83858 broad.mit.edu 37 1 1421164 1421164 + Silent SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr1:1421164C>G ENST00000308647.7 + 9 1025 c.909C>G c.(907-909)gtC>gtG p.V303V NM_031921.4 NP_114127.3 Q5T9A4 ATD3B_HUMAN ATPase family, AAA domain containing 3B 303 ATP binding|nucleoside-triphosphatase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1) 10 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) TCCGGCAGGTCAGCCGGCGGC 0.647000 6 33 0 0 1 0 0 USP16 10600 broad.mit.edu 37 21 30403041 30403041 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr21:30403041G>C ENST00000334352.4 + 4 418 c.187G>C c.(187-189)Gaa>Caa p.E63Q USP16_ENST00000535828.1_Intron|USP16_ENST00000399975.3_Missense_Mutation_p.E63Q|USP16_ENST00000399976.2_Missense_Mutation_p.E63Q NM_001032410.1 NP_001027582.1 Q9Y5T5 UBP16_HUMAN ubiquitin specific peptidase 16 63 cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2) 34 TAAAGCTGAAGAAGAAACAGA 0.358000 5 69 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142718749 142718749 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chrX:142718749G>C ENST00000381779.4 - 2 401 c.176C>G c.(175-177)tCt>tGt p.S59C SLITRK4_ENST00000338017.4_Missense_Mutation_p.S59C|SLITRK4_ENST00000356928.1_Missense_Mutation_p.S59C NM_001184749.2|NM_001184750.1|NM_173078.4 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 59 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) ATAAAAATTAGACCAAGGTGG 0.368000 9 39 0 0 1 0 0 CHRNA9 55584 broad.mit.edu 37 4 40351422 40351422 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr4:40351422C>T ENST00000310169.2 + 4 1028 c.889C>T c.(889-891)Ccc>Tcc p.P297S NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 297 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) AGAAAATGTGCCCCTGATAGG 0.498000 4 107 0 0 1 0 0 LIX1L 128077 broad.mit.edu 37 1 145498121 145498121 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr1:145498121C>G ENST00000369308.3 + 5 786 c.712C>G c.(712-714)Caa>Gaa p.Q238E RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA NM_153713.1 NP_714924.1 Q8IVB5 LIX1L_HUMAN Lix1 homolog (mouse)-like 238 large_intestine(4)|lung(6)|ovary(2)|skin(1) 13 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GACAGTTTTTCAACTGCTACA 0.468000 6 54 0 0 1 0 0 ZNHIT2 741 broad.mit.edu 37 11 64884137 64884137 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr11:64884137C>T ENST00000310597.4 - 1 1033 c.989G>A c.(988-990)cGa>cAa p.R330Q NM_014205.2 NP_055020.1 Q9UHR6 ZNHI2_HUMAN zinc finger, HIT-type containing 2 330 metal ion binding breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 AAGATGATCTCGCTCTTCTCT 0.642000 6 34 0 0 1 0 0 SPAG9 9043 broad.mit.edu 37 17 49133775 49133775 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr17:49133775C>T ENST00000262013.7 - 3 701 c.493G>A c.(493-495)Gag>Aag p.E165K RP11-481C4.1_ENST00000509833.1_RNA|SPAG9_ENST00000357122.4_Missense_Mutation_p.E165K|SPAG9_ENST00000505279.1_Missense_Mutation_p.E165K NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 165 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) AAACCCACCTCAGTGTGTCTT 0.303000 24 67 0 0 1 0 0 LCK 3932 broad.mit.edu 37 1 32745564 32745564 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr1:32745564C>T ENST00000333070.4 + 11 1354 c.1254C>T c.(1252-1254)ctC>ctT p.L418L LCK_ENST00000336890.5_Silent_p.L388L|LCK_ENST00000373564.3_Silent_p.L395L NM_001042771.1 NP_001036236.1 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 388 Protein kinase. activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) TAGCACGCCTCATTGAGGACA 0.547000 T TRB@ T-ALL 7 44 0 0 1 0 0 PRODH2 58510 broad.mit.edu 37 19 36297420 36297420 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr19:36297420C>T ENST00000301175.3 - 8 1158 c.1141G>A c.(1141-1143)Ggt>Agt p.G381S NM_021232.1 NP_067055.1 Q9UF12 PROD2_HUMAN proline dehydrogenase (oxidase) 2 381 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity p.G381S(1) haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AGATATGCACCTCGTACCAGC 0.637000 6 64 0 0 1 0 0 KPNA6 23633 broad.mit.edu 37 1 32622970 32622970 + Missense_Mutation SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr1:32622970G>A ENST00000373625.3 + 4 348 c.255G>A c.(253-255)atG>atA p.M85I KPNA6_ENST00000545542.1_Missense_Mutation_p.M90I|KPNA6_ENST00000537234.1_Missense_Mutation_p.M82I|KPNA6_ENST00000469790.1_3'UTR NM_012316.4 NP_036448.1 O60684 IMA7_HUMAN karyopherin alpha 6 (importin alpha 7) 85 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding large_intestine(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) CAAGAGAGATGGTGGAGATGC 0.443000 4 32 0 0 1 0 0 GTPBP2 54676 broad.mit.edu 37 6 43589377 43589377 + Missense_Mutation SNP C C T rs2232218 TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr6:43589377C>T ENST00000307126.5 - 12 1782 c.1783G>A c.(1783-1785)Gaa>Aaa p.E595K GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.E507K NM_019096.3 NP_061969.3 Q9BX10 GTPB2_HUMAN GTP binding protein 2 595 GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) GCCTGGGCTTCTCCTGCTGTA 0.552000 8 33 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95508104 95508104 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr8:95508104C>T ENST00000297591.5 - 19 4474 c.4399G>A c.(4399-4401)Gat>Aat p.D1467N KIAA1429_ENST00000437199.1_3'UTR NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1467 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) AGATTGTCATCATCTTTTGAA 0.403000 9 44 0 0 1 0 0 TP53I11 9537 broad.mit.edu 37 11 44957160 44957160 + Nonsense_Mutation SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr11:44957160G>A ENST00000533940.1 - 9 992 c.388C>T c.(388-390)Cga>Tga p.R130* TP53I11_ENST00000308212.5_Nonsense_Mutation_p.R130*|TP53I11_ENST00000525680.1_Nonsense_Mutation_p.R130*|TP53I11_ENST00000395648.3_Nonsense_Mutation_p.R130* NM_001258320.1 NP_001245249.1 O14683 P5I11_HUMAN tumor protein p53 inducible protein 11 130 negative regulation of cell proliferation|response to stress integral to membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1) 5 AGGGTCCATCGAATGATGACC 0.612000 4 15 0 0 1 0 0 CLCF1 23529 broad.mit.edu 37 11 67133001 67133001 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr11:67133001C>T ENST00000312438.7 - 3 481 c.284G>A c.(283-285)cGa>cAa p.R95Q CLCF1_ENST00000533438.1_Missense_Mutation_p.R85Q|CLCF1_ENST00000528474.1_Missense_Mutation_p.R85Q|AP003419.11_ENST00000543494.1_RNA NM_013246.2 NP_037378.1 Q9UBD9 CLCF1_HUMAN cardiotrophin-like cytokine factor 1 95 B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity endometrium(1)|urinary_tract(1) 2 BRCA - Breast invasive adenocarcinoma(15;2.39e-06) ATTGAGGCTTCGCCACACCTC 0.607000 3 50 0 0 1 0 0 MTSS1 9788 broad.mit.edu 37 8 125601898 125601898 + Missense_Mutation SNP C C A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr8:125601898C>A ENST00000518547.1 - 5 821 c.348G>T c.(346-348)aaG>aaT p.K116N MTSS1_ENST00000325064.5_Missense_Mutation_p.K116N|MTSS1_ENST00000378017.3_Missense_Mutation_p.K116N|MTSS1_ENST00000354184.4_5'UTR NM_001282971.1|NM_014751.4 NP_001269900.1|NP_055566.3 O43312 MTSS1_HUMAN metastasis suppressor 1 116 IMD. actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) TGGCCACTTTCTTCCATTCTT 0.488000 18 175 1.56452e-12 1.74505e-12 1 1 0 CHDH 55349 broad.mit.edu 37 3 53852098 53852098 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr3:53852098C>G ENST00000315251.6 - 9 1928 c.1491G>C c.(1489-1491)gaG>gaC p.E497D NM_018397.4 NP_060867.2 Q8NE62 CHDH_HUMAN choline dehydrogenase alcohol metabolic process choline dehydrogenase activity|flavin adenine dinucleotide binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 17 Hepatocellular(537;0.152) BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) Choline(DB00122) AGGCATCTATCTCTTTATCTG 0.572000 3 56 0 0 1 0 0 PKP1 5317 broad.mit.edu 37 1 201292251 201292251 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr1:201292251C>T ENST00000263946.3 + 10 1928 c.1677C>T c.(1675-1677)agC>agT p.S559S PKP1_ENST00000352845.3_Silent_p.S559S|PKP1_ENST00000367324.3_Silent_p.S538S NM_000299.3 NP_000290.2 Q13835 PKP1_HUMAN plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) 559 cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development desmosome|intermediate filament|nucleus intermediate filament binding|signal transducer activity|structural constituent of epidermis NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1) 22 TGGGCAAGAGCAAGAAAGATG 0.592000 9 90 0 0 1 0 0 BOC 91653 broad.mit.edu 37 3 113004280 113004280 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr3:113004280C>G ENST00000495514.1 + 19 3729 c.3025C>G c.(3025-3027)Cac>Gac p.H1009D BOC_ENST00000355385.3_Missense_Mutation_p.H1009D|BOC_ENST00000273395.4_Missense_Mutation_p.H1010D Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 1009 cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) CGACTCCACTCACCAGCTGCT 0.652000 3 39 0 0 1 0 0 CLIP1 6249 broad.mit.edu 37 12 122837326 122837326 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr12:122837326C>T ENST00000358808.2 - 8 1469 c.1315G>A c.(1315-1317)Gag>Aag p.E439K CLIP1_ENST00000540338.1_Missense_Mutation_p.E439K|CLIP1_ENST00000545889.1_Missense_Mutation_p.E140K|CLIP1_ENST00000537178.1_Missense_Mutation_p.E439K|CLIP1_ENST00000302528.7_Missense_Mutation_p.E439K|CLIP1_ENST00000361654.4_Missense_Mutation_p.E439K NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 439 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) TGAAGGTCCTCAACCTTCCTG 0.383000 18 50 0 0 1 0 0 SIPA1 6494 broad.mit.edu 37 11 65417106 65417106 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr11:65417106C>T ENST00000394224.3 + 11 2896 c.2600C>T c.(2599-2601)tCa>tTa p.S867L SIPA1_ENST00000527525.1_Missense_Mutation_p.S765L|SIPA1_ENST00000394227.3_Missense_Mutation_p.S765L|SIPA1_ENST00000534313.1_Missense_Mutation_p.S867L NM_153253.29 NP_694985.29 Q96FS4 SIPA1_HUMAN signal-induced proliferation-associated 1 867 cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 10 GCCAAGCCATCAGTACCCAGT 0.617000 4 66 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 3030084 3030084 + Missense_Mutation SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr3:3030084G>A ENST00000397461.1 + 13 1798 c.1414G>A c.(1414-1416)Gct>Act p.A472T CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000427331.1_Missense_Mutation_p.A472T|CNTN4_ENST00000418658.1_Missense_Mutation_p.A472T|CNTN4_ENST00000397459.2_Missense_Mutation_p.A144T|CNTN4_ENST00000358480.3_Missense_Mutation_p.A253T|CNTN4_ENST00000448906.2_Missense_Mutation_p.A144T NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 472 Ig-like C2-type 5. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TAAATCAGACGCTGGGAGTTA 0.363000 8 114 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65422833 65422833 + Nonsense_Mutation SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr3:65422833G>A ENST00000330909.8 - 10 1359 c.1360C>T c.(1360-1362)Cag>Tag p.Q454* MAGI1_ENST00000483466.1_Nonsense_Mutation_p.Q454*|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000497477.2_Nonsense_Mutation_p.Q454*|MAGI1_ENST00000402939.2_Nonsense_Mutation_p.Q454* NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 454 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) ACTTTACCCTGAAGTGGAACT 0.403000 4 44 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71008186 71008186 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr16:71008186C>G ENST00000393567.2 - 33 5077 c.4927G>C c.(4927-4929)Gat>Cat p.D1643H NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1643 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TTTACACGATCTAGCTCAGTA 0.423000 4 12 0 0 1 0 0 ARL11 115761 broad.mit.edu 37 13 50204892 50204892 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr13:50204892C>T ENST00000282026.1 + 2 644 c.309C>T c.(307-309)ctC>ctT p.L103L ARL11_ENST00000490932.1_Intron NM_138450.5 NP_612459.1 Q969Q4 ARL11_HUMAN ADP-ribosylation factor-like 11 103 small GTPase mediated signal transduction intracellular GTP binding|protein binding kidney(1)|large_intestine(4)|ovary(1) 6 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169) GBM - Glioblastoma multiforme(99;1.67e-09) CGGCTGAGCTCACAGAAGTCC 0.572000 9 45 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8995667 8995667 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr19:8995667G>C ENST00000397910.4 - 63 41524 c.41321C>G c.(41320-41322)tCt>tGt p.S13774C MUC16_ENST00000380951.5_Missense_Mutation_p.S415C NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13776 Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGAGTCTTAGATGCTCCCAG 0.488000 3 20 0 0 1 0 0 PRPS1L1 221823 broad.mit.edu 37 7 18066917 18066917 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr7:18066917C>T ENST00000506618.2 - 1 569 c.489G>A c.(487-489)aaG>aaA p.K163K NM_175886.2 NP_787082 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 1 163 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3) 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) TAATGCAGTTCTTCCACTCAG 0.438000 18 55 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23542761 23542761 + Nonsense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr19:23542761G>C ENST00000300619.7 - 4 3225 c.3020C>G c.(3019-3021)tCa>tGa p.S1007* ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Nonsense_Mutation_p.S975* NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 1007 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) AGTTAGGGTTGAGGATTGGCT 0.383000 18 107 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81536964 81536964 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr12:81536964C>T ENST00000548058.1 + 5 1769 c.859C>T c.(859-861)Cct>Tct p.P287S ACSS3_ENST00000261206.3_Missense_Mutation_p.P286S Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 287 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 TGACTGTGTTCCTGTTCTTTC 0.448000 8 69 0 0 1 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118360682 118360682 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr10:118360682C>T ENST00000528052.1 + 10 1103 c.1032C>T c.(1030-1032)ttC>ttT p.F344F PNLIPRP1_ENST00000534537.1_Silent_p.F344F|PNLIPRP1_ENST00000358834.4_Silent_p.F344F P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 344 lipid metabolic process calcium ion binding|triglyceride lipase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) AGAAATTCTTCTTGAACACAG 0.453000 11 73 0 0 1 0 0 H2AFY2 55506 broad.mit.edu 37 10 71855428 71855428 + Missense_Mutation SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr10:71855428G>A ENST00000373255.4 + 6 871 c.607G>A c.(607-609)Gac>Aac p.D203N NM_018649.2 NP_061119.1 Q9P0M6 H2AW_HUMAN H2A histone family, member Y2 203 Macro. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1) 15 AACCCAGAGTGACATCAGCCA 0.408000 3 24 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72153916 72153916 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr16:72153916C>G ENST00000537465.1 - 20 3014 c.2856G>C c.(2854-2856)aaG>aaC p.K952N PMFBP1_ENST00000537792.1_Intron|PMFBP1_ENST00000237353.10_Missense_Mutation_p.K947N|PMFBP1_ENST00000355636.6_Missense_Mutation_p.K822N Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 952 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) CGGCTTTCATCTTCTTCTCTT 0.542000 5 49 0 0 1 0 0 ECM2 1842 broad.mit.edu 37 9 95280061 95280061 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr9:95280061C>G ENST00000344604.5 - 3 538 c.389G>C c.(388-390)aGa>aCa p.R130T ECM2_ENST00000375540.1_Missense_Mutation_p.R130T|ECM2_ENST00000444490.2_Missense_Mutation_p.R130T|CENPP_ENST00000375587.3_Intron NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 130 VWFC. cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 ACAAAGAACTCTTCCATCTGA 0.527000 26 61 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61512603 61512603 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr20:61512603C>T ENST00000266070.4 - 16 5030 c.4705G>A c.(4705-4707)Gag>Aag p.E1569K DIDO1_ENST00000395343.1_Missense_Mutation_p.E1569K NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1569 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TCACCGGTCTCAGTGGCCAGG 0.711000 8 28 0 0 1 0 0 AMIGO2 347902 broad.mit.edu 37 12 47472393 47472393 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr12:47472393C>T ENST00000266581.4 - 2 859 c.393G>A c.(391-393)acG>acA p.T131T AMIGO2_ENST00000321382.3_Silent_p.T131T|AMIGO2_ENST00000550413.1_Silent_p.T131T|AMIGO2_ENST00000429635.1_Silent_p.T131T NM_181847.4 NP_862830.1 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 131 heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) CATTTTTCACCGTCTTCAGCT 0.418000 4 108 0 0 1 0 0 RAD21 5885 broad.mit.edu 37 8 117869588 117869588 + Silent SNP C C G rs139128240 TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr8:117869588C>G ENST00000297338.2 - 6 893 c.606G>C c.(604-606)ctG>ctC p.L202L RAD21_ENST00000523547.1_5'UTR NM_006265.2 NP_006256.1 O60216 RAD21_HUMAN RAD21 homolog (S. pombe) 202 apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) TTTTCTCATTCAGATTGCTGG 0.363000 26 69 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63547879 63547879 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr18:63547879G>C ENST00000397968.2 + 12 2533 c.2107G>C c.(2107-2109)Gat>Cat p.D703H CDH7_ENST00000323011.3_Missense_Mutation_p.D703H NM_004361.2 NP_004352.2 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 703 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) AAGCATCCCAGATAATGTCAT 0.443000 17 101 0 0 1 0 0 PRPSAP1 5635 broad.mit.edu 37 17 74307645 74307645 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr17:74307645C>T ENST00000446526.3 - 10 1581 c.1136G>A c.(1135-1137)cGa>cAa p.R379Q PRPSAP1_ENST00000588364.1_5'UTR|PRPSAP1_ENST00000324684.4_Missense_Mutation_p.R276Q NM_002766.2 NP_002757.2 Q14558 KPRA_HUMAN phosphoribosyl pyrophosphate synthetase-associated protein 1 350 nucleotide biosynthetic process enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 17 AGTGATGTTTCGGAAAAGGTA 0.468000 11 36 0 0 1 0 0 LRIT2 340745 broad.mit.edu 37 10 85981948 85981948 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr10:85981948C>T ENST00000372113.4 - 3 1386 c.1381G>A c.(1381-1383)Gag>Aag p.E461K LRIT2_ENST00000538192.1_Missense_Mutation_p.E471K NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 461 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 AGGAGGTGCTCACGTGCCTCT 0.612000 6 41 0 0 1 0 0 PODXL2 50512 broad.mit.edu 37 3 127379611 127379611 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr3:127379611C>T ENST00000342480.6 + 3 779 c.740C>T c.(739-741)tCa>tTa p.S247L NM_015720.2 NP_056535.1 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 247 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 CTGCTGCCTTCAGTCACCCCA 0.637000 15 25 0 0 1 0 0 C16orf78 123970 broad.mit.edu 37 16 49433105 49433105 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr16:49433105G>C ENST00000299191.3 + 5 831 c.714G>C c.(712-714)atG>atC p.M238I NM_144602.2 NP_653203.1 Q8WTQ4 CP078_HUMAN chromosome 16 open reading frame 78 238 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1) 22 ATGCAGGAATGAATGTGGATA 0.483000 13 51 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr17:37868208C>T ENST00000406381.2 + 10 1349 c.839C>T c.(838-840)tCc>tTc p.S280F ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 310 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 p.S310F(6)|p.S310Y(1) 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) GACGTGGGATCCTGCACCCTC 0.582000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 52 116 0 0 1 0 0 NOS3 4846 broad.mit.edu 37 7 150696314 150696314 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr7:150696314C>T ENST00000297494.3 + 9 1350 c.993C>T c.(991-993)taC>taT p.Y331Y NOS3_ENST00000461406.1_Silent_p.Y125Y|NOS3_ENST00000467517.1_Silent_p.Y331Y|NOS3_ENST00000484524.1_Silent_p.Y331Y NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 331 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) TGCGCTGGTACGCCCTCCCGG 0.642000 21 56 0 0 1 0 0 CCDC91 55297 broad.mit.edu 37 12 28458687 28458687 + Missense_Mutation SNP A A G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr12:28458687A>G ENST00000545336.1 + 7 634 c.215A>G c.(214-216)gAg>gGg p.E72G CCDC91_ENST00000381259.1_Missense_Mutation_p.E72G|CCDC91_ENST00000539107.1_Missense_Mutation_p.E72G|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000306172.5_Missense_Mutation_p.E42G|CCDC91_ENST00000381256.1_Missense_Mutation_p.E72G Q7Z6B0 CCD91_HUMAN coiled-coil domain containing 91 72 protein transport Golgi apparatus|membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1) 22 Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184) TCATCACCAGAGAATACACAT 0.393000 15 109 0 0 1 0 0 ZNF846 162993 broad.mit.edu 37 19 9869189 9869189 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr19:9869189C>T ENST00000397902.2 - 6 977 c.564G>A c.(562-564)caG>caA p.Q188Q ZNF846_ENST00000588267.1_Silent_p.Q59Q|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Silent_p.Q59Q NM_001077624.1 NP_001071092.1 Q147U1 ZN846_HUMAN zinc finger protein 846 188 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 GAGTTTTATTCTGCCTAGTAA 0.353000 20 87 0 0 1 0 0 STK40 83931 broad.mit.edu 37 1 36820993 36820993 + Silent SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr1:36820993C>G ENST00000359297.2 - 4 391 c.384G>C c.(382-384)cgG>cgC p.R128R STK40_ENST00000373132.3_Silent_p.R128R|STK40_ENST00000373130.3_Silent_p.R133R|STK40_ENST00000373129.3_Silent_p.R128R|STK40_ENST00000482458.1_5'UTR Q8N2I9 STK40_HUMAN serine/threonine kinase 40 128 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1) 13 Myeloproliferative disorder(586;0.0393) TCTTAACCATCCGGCTGGATT 0.577000 16 149 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8153019 8153019 + Missense_Mutation SNP A A T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr19:8153019A>T ENST00000600128.1 - 52 6835 c.6421T>A c.(6421-6423)Tgc>Agc p.C2141S FBN3_ENST00000601739.1_Missense_Mutation_p.C2141S|FBN3_ENST00000270509.2_Missense_Mutation_p.C2141S Q75N90 FBN3_HUMAN fibrillin 3 2141 EGF-like 34; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 ACATTGGTGCATGTCCCTTGC 0.607000 4 25 0 0 1 0 0 CHRM3 1131 broad.mit.edu 37 1 240071668 240071668 + Missense_Mutation SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr1:240071668G>A ENST00000255380.4 + 5 1696 c.917G>A c.(916-918)aGg>aAg p.R306K NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 306 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) TCCAACAGGAGGAAGTATGGC 0.532000 4 20 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56485189 56485189 + Nonsense_Mutation SNP C C A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr6:56485189C>A ENST00000370765.6 - 23 3750 c.3643G>T c.(3643-3645)Gag>Tag p.E1215* DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1556 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CTCACCCGCTCCAGTTCTCTT 0.502000 10 37 2.74318e-10 3.04021e-10 1 1 0 HMGCL 3155 broad.mit.edu 37 1 24144012 24144012 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr1:24144012G>C ENST00000374483.4 - 4 802 c.131C>G c.(130-132)tCt>tGt p.S44C HMGCL_ENST00000509389.1_5'UTR|HMGCL_ENST00000374490.3_Missense_Mutation_p.S69C|HMGCL_ENST00000436439.2_Missense_Mutation_p.S69C P35914 HMGCL_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase 69 acetoacetic acid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA lyase activity|metal ion binding p.S69C(1) central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 12 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188) TTCTATAACAGAGAGTCCTGC 0.443000 3 65 0 0 1 0 0 HAUS6 54801 broad.mit.edu 37 9 19078198 19078198 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr9:19078198G>C ENST00000380502.3 - 10 1634 c.1167C>G c.(1165-1167)ttC>ttG p.F389L HAUS6_ENST00000380496.1_Missense_Mutation_p.F253L NM_001270890.1|NM_017645.4 NP_001257819.1|NP_060115.3 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 389 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TAATTAGACTGAAAGGAGACA 0.388000 4 41 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142185265 142185265 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr3:142185265C>T ENST00000350721.4 - 40 6919 c.6798G>A c.(6796-6798)atG>atA p.M2266I ATR_ENST00000383101.3_Missense_Mutation_p.M2202I|RP11-383G6.3_ENST00000460977.1_RNA NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 2266 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 GTGTAGGTATCATGACTGATT 0.403000 Other conserved DNA damage response genes 6 50 0 0 1 0 0 TTLL12 23170 broad.mit.edu 37 22 43579092 43579092 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr22:43579092C>T ENST00000216129.6 - 2 304 c.241G>A c.(241-243)Gag>Aag p.E81K NM_015140.3 NP_055955.1 Q14166 TTL12_HUMAN tubulin tyrosine ligase-like family, member 12 81 protein modification process tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 13 Ovarian(80;0.221)|Glioma(61;0.222) CGGGCTGCCTCGTCCTCCTCC 0.647000 9 69 0 0 1 0 0 BAD 572 broad.mit.edu 37 11 64037703 64037703 + Missense_Mutation SNP C C A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr11:64037703C>A ENST00000394532.3 - 3 755 c.485G>T c.(484-486)gGa>gTa p.G162V BAD_ENST00000309032.3_Missense_Mutation_p.G162V|BAD_ENST00000544785.1_Silent_p.G98G NM_004322.3 NP_004313.1 Q92934 BAD_HUMAN BCL2-associated agonist of cell death 162 activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation cytosol|mitochondrial outer membrane caspase activator activity|phospholipid binding|protein kinase binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1) 4 GGCGGAGCTTCCCCTGCCCAA 0.632000 3 24 0.00024832 0.000258729 1 1 0 FKBP9 11328 broad.mit.edu 37 7 33014923 33014923 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr7:33014923C>G ENST00000242209.4 + 3 666 c.497C>G c.(496-498)tCt>tGt p.S166C FKBP9_ENST00000538336.1_Missense_Mutation_p.S219C|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Missense_Mutation_p.S28C NM_001284343.1|NM_007270.3 NP_001271272.1|NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa 166 PPIase FKBP-type 2. protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) ATCCAGGTGTCTGATTTTGTG 0.473000 7 53 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139909942 139909942 + Silent SNP G G T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr9:139909942G>T ENST00000265662.5 - 24 3768 c.3621C>A c.(3619-3621)ctC>ctA p.L1207L ABCA2_ENST00000341511.6_Silent_p.L1207L|ABCA2_ENST00000371605.3_Silent_p.L1206L Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1206 ABC transporter 1. cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances p.L1207L(1) central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CCTTGAGGAAGAGCGGGGAGC 0.647000 4 3 0.150653 0.151963 1 1 0 COASY 80347 broad.mit.edu 37 17 40715322 40715322 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr17:40715322G>C ENST00000393818.2 + 1 1138 c.682G>C c.(682-684)Gac>Cac p.D228H COASY_ENST00000449624.1_5'UTR|COASY_ENST00000421097.2_Missense_Mutation_p.D228H|COASY_ENST00000590958.1_Missense_Mutation_p.D257H|COASY_ENST00000420359.1_Missense_Mutation_p.D228H NM_025233.6 NP_079509.5 Q13057 COASY_HUMAN CoA synthase 228 Phosphopantetheine adenylyltransferase. coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 21 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) GGGAGTAGCAGACAAAGATCT 0.592000 16 33 0 0 1 0 0 CCDC34 91057 broad.mit.edu 37 11 27379033 27379033 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr11:27379033C>T ENST00000317945.6 - 2 454 c.415G>A c.(415-417)Gaa>Aaa p.E139K CCDC34_ENST00000328697.6_Missense_Mutation_p.E139K NM_080654.2 NP_542385.1 Q96HJ3 CCD34_HUMAN coiled-coil domain containing 34 139 endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1) 9 AGGCGGCTTTCTGGTAAGCGC 0.433000 10 99 0 0 1 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34791060 34791060 + Missense_Mutation SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr6:34791060G>A ENST00000192788.5 + 4 444 c.273G>A c.(271-273)atG>atA p.M91I UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.M91I NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 91 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 AGGTGGAGATGAAGACATGTG 0.453000 9 118 0 0 1 0 0 DPYS 1807 broad.mit.edu 37 8 105436506 105436506 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr8:105436506C>T ENST00000351513.2 - 7 1336 c.1204G>A c.(1204-1206)Gac>Aac p.D402N NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 402 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) ATAACAATGTCAGCATCTGAT 0.378000 18 99 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52386706 52386706 + Missense_Mutation SNP A A C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr3:52386706A>C ENST00000420323.2 + 18 3271 c.3010A>C c.(3010-3012)Agc>Cgc p.S1004R NM_015512.4 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1004 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GCGCATCTTCAGCTTGCCCAT 0.617000 3 10 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139909936 139909936 + Silent SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr9:139909936G>A ENST00000265662.5 - 24 3774 c.3627C>T c.(3625-3627)ctC>ctT p.L1209L ABCA2_ENST00000341511.6_Silent_p.L1209L|ABCA2_ENST00000371605.3_Silent_p.L1208L Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1208 ABC transporter 1. cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) AGGTGCCCTTGAGGAAGAGCG 0.647000 4 3 0 0 1 0 0 SLC25A46 91137 broad.mit.edu 37 5 110097168 110097168 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr5:110097168C>T ENST00000355943.3 + 8 1069 c.943C>T c.(943-945)Cca>Tca p.P315S SLC25A46_ENST00000513807.1_Missense_Mutation_p.P153S|SLC25A46_ENST00000509442.2_Missense_Mutation_p.P224S|SLC25A46_ENST00000447245.2_Missense_Mutation_p.P234S|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000509432.1_Missense_Mutation_p.P102S|SLC25A46_ENST00000504098.1_Missense_Mutation_p.P169S NM_138773.1 NP_620128.1 Q96AG3 S2546_HUMAN solute carrier family 25, member 46 315 transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 10 all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156) OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211) TGCTTATTTTCCAGAACTTAT 0.413000 21 152 0 0 1 0 0 NINL 22981 broad.mit.edu 37 20 25459711 25459711 + Missense_Mutation SNP G G T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr20:25459711G>T ENST00000278886.6 - 16 2122 c.2049C>A c.(2047-2049)caC>caA p.H683Q NINL_ENST00000422516.1_Missense_Mutation_p.H683Q NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 683 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 GAGACTTCTCGTGGAGCTCCT 0.647000 9 50 3.09899e-07 3.35965e-07 1 1 0 PAX1 5075 broad.mit.edu 37 20 21687300 21687300 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr20:21687300C>T ENST00000398485.2 + 2 565 c.511C>T c.(511-513)Cgc>Tgc p.R171C PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.R147C NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 171 Paired. regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 GAGCAAGCCCCGCGTCACCAC 0.667000 6 43 0 0 1 0 0 ZNF254 9534 broad.mit.edu 37 19 24309664 24309664 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr19:24309664C>T ENST00000357002.4 + 4 977 c.862C>T c.(862-864)Cat>Tat p.H288Y ZNF254_ENST00000342944.6_Missense_Mutation_p.H203Y NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 288 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) TAAGATAATTCATACTGGAGA 0.353000 6 56 0 0 1 0 0 IGHV7-81 28378 broad.mit.edu 37 14 107282933 107282933 + RNA SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr14:107282933G>C ENST00000390639.2 - 0 263 TGTAGGTGTTGAACCATCCCA 0.537000 8 81 0 0 1 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51920086 51920086 + Nonsense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr19:51920086C>T ENST00000353836.5 - 3 761 c.540G>A c.(538-540)tgG>tgA p.W180* SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000339313.5_Nonsense_Mutation_p.W180*|SIGLEC10_ENST00000441969.3_Intron|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000356298.5_Nonsense_Mutation_p.W180*|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000439889.2_Intron|SIGLEC10_ENST00000525998.1_Nonsense_Mutation_p.W180*|SIGLEC10_ENST00000432469.2_Intron NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 180 Ig-like C2-type 1. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) CAGCCCCCGTCCAGGAGAAAG 0.602000 6 33 0 0 1 0 0 OC90 729330 broad.mit.edu 37 8 133048645 133048645 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr8:133048645C>G ENST00000262283.5 - 13 1387 c.1288G>C c.(1288-1290)Gac>Cac p.D430H OC90_ENST00000443356.2_Missense_Mutation_p.D234H|OC90_ENST00000254627.3_Intron|OC90_ENST00000603859.1_Intron Q02509 OC90_HUMAN otoconin 90 234 Phospholipase A2-like 3. lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) ATCAGTCTGTCAGCCTCAGTC 0.443000 9 65 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168102265 168102265 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr2:168102265C>T ENST00000409195.1 + 9 4452 c.4363C>T c.(4363-4365)Cta>Tta p.L1455L XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L1455L|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L1233L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1280 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ATCTACTTGGCTATTTGAAAC 0.338000 7 57 0 0 1 0 0 AHDC1 27245 broad.mit.edu 37 1 27875893 27875893 + Nonsense_Mutation SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr1:27875893G>A ENST00000374011.2 - 6 3702 c.2734C>T c.(2734-2736)Cag>Tag p.Q912* AHDC1_ENST00000247087.5_Nonsense_Mutation_p.Q912* NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 912 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) AGGACAGGCTGAAAGGAGGGG 0.701000 5 26 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50152651 50152651 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr15:50152651G>C ENST00000284509.6 - 28 3460 c.3319C>G c.(3319-3321)Caa>Gaa p.Q1107E ATP8B4_ENST00000559829.1_Missense_Mutation_p.Q1107E NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 1107 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) GCCTTCTTTTGAGCCTTCTGC 0.522000 11 68 0 0 1 0 0 TAF4B 6875 broad.mit.edu 37 18 23873398 23873398 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr18:23873398C>T ENST00000269142.5 + 9 2733 c.1735C>T c.(1735-1737)Cta>Tta p.L579L TAF4B_ENST00000400466.2_Silent_p.L579L|TAF4B_ENST00000578121.1_Silent_p.L584L NM_005640.1 NP_005631.1 Q92750 TAF4B_HUMAN TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa 579 transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleolus|transcription factor TFIID complex DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1) 29 all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124) Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267) AGCTTCCATTCTAAAGCAAAT 0.308000 10 58 0 0 1 0 0 AACS 65985 broad.mit.edu 37 12 125591757 125591757 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr12:125591757C>T ENST00000316519.6 + 8 1064 c.858C>T c.(856-858)ttC>ttT p.F286F AACS_ENST00000316543.10_5'UTR|AACS_ENST00000261686.6_Silent_p.F286F NM_023928.3 NP_076417.2 Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 286 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) ACCCACTGTTCATCATGTTCT 0.617000 6 57 0 0 1 0 0 EPX 8288 broad.mit.edu 37 17 56276514 56276514 + Missense_Mutation SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr17:56276514G>A ENST00000225371.5 + 8 1344 c.1234G>A c.(1234-1236)Gac>Aac p.D412N NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 412 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 GTGGAATGGAGACAAACTGTA 0.572000 13 20 0 0 1 0 0 ARL5B 221079 broad.mit.edu 37 10 18962939 18962939 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr10:18962939C>G ENST00000377275.3 + 5 599 c.366C>G c.(364-366)atC>atG p.I122M NM_178815.3 NP_848930.1 Q96KC2 ARL5B_HUMAN ADP-ribosylation factor-like 5B 122 small GTPase mediated signal transduction intracellular GTP binding lung(1)|ovary(1) 2 CAGTCCTTATCTTTGCAAATA 0.358000 7 38 0 0 1 0 0 MTMR3 8897 broad.mit.edu 37 22 30387504 30387504 + Nonsense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr22:30387504C>G ENST00000333027.3 + 7 633 c.305C>G c.(304-306)tCa>tGa p.S102* MTMR3_ENST00000351488.3_Nonsense_Mutation_p.S102*|MTMR3_ENST00000401950.2_Nonsense_Mutation_p.S102*|MTMR3_ENST00000323630.5_5'UTR|MTMR3_ENST00000415511.1_3'UTR|MTMR3_ENST00000406629.1_Nonsense_Mutation_p.S102* NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 102 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) TGTCAGTTTTCAACCTTTGAG 0.403000 9 44 0 0 1 0 0 DNM1P46 196968 broad.mit.edu 37 15 100331081 100331081 + RNA SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr15:100331081C>T ENST00000341853.1 - 0 3110 NR_003260.1 CCCCTCCCCTCAGAGTAGGCG 0.517000 4 43 0 0 1 0 0 FAF1 11124 broad.mit.edu 37 1 51253723 51253723 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr1:51253723C>G ENST00000396153.2 - 4 767 c.316G>C c.(316-318)Gaa>Caa p.E106Q FAF1_ENST00000371778.4_Missense_Mutation_p.E106Q NM_007051.2 NP_008982.1 Q9UNN5 FAF1_HUMAN Fas (TNFRSF6) associated factor 1 106 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity p.0?(3) breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) TCTCTGTATTCAACCCTGAAG 0.428000 9 25 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 38091734 38091734 + Silent SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr4:38091734C>G ENST00000261439.4 + 13 2587 c.2232C>G c.(2230-2232)ctC>ctG p.L744L TBC1D1_ENST00000508802.1_Silent_p.L838L NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 744 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 ATCAGAAGCTCCAAGGTTGGT 0.423000 8 47 0 0 1 0 0 SLC4A2 6522 broad.mit.edu 37 7 150772567 150772567 + Silent SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr7:150772567G>A ENST00000485713.1 + 20 4313 c.3273G>A c.(3271-3273)gtG>gtA p.V1091V SLC4A2_ENST00000413384.2_Silent_p.V1091V|SLC4A2_ENST00000392826.2_Silent_p.V1082V|SLC4A2_ENST00000461735.1_Silent_p.V1077V|SLC4A2_ENST00000310317.5_Silent_p.V1009V|RP11-148K1.12_ENST00000485974.1_RNA NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 1091 Membrane (anion exchange). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGCAGCGGGTGACGGGGCTGC 0.637000 10 45 0 0 1 0 0 SPESP1 246777 broad.mit.edu 37 15 69238625 69238625 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr15:69238625G>C ENST00000310673.3 + 2 906 c.752G>C c.(751-753)aGa>aCa p.R251T RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron|NOX5_ENST00000448182.3_Intron NM_145658.3 NP_663633.1 Q6UW49 SPESP_HUMAN sperm equatorial segment protein 1 251 multicellular organismal development acrosomal vesicle breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 19 CCAGCATATAGAGAAGATATT 0.363000 11 72 0 0 1 0 0 FAM127B 26071 broad.mit.edu 37 X 134185862 134185862 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chrX:134185862C>T ENST00000370775.2 - 1 343 c.277G>A c.(277-279)Gat>Aat p.D93N FAM127B_ENST00000520964.1_Intron NM_001078172.1 NP_001071640.1 Q9BWD3 F127B_HUMAN family with sequence similarity 127, member B 93 breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;0.000127) CCCCGGTAATCATTGAGCAGG 0.642000 7 13 0 0 1 0 0 SMCHD1 23347 broad.mit.edu 37 18 2739443 2739443 + Missense_Mutation SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr18:2739443G>A ENST00000320876.6 + 27 3777 c.3439G>A c.(3439-3441)Gaa>Aaa p.E1147K RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.E1147K NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 1147 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 ACTTCCTGATGAACCTAAACA 0.343000 5 32 0 0 1 0 0 CLIP1 6249 broad.mit.edu 37 12 122837305 122837305 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr12:122837305C>G ENST00000358808.2 - 8 1490 c.1336G>C c.(1336-1338)Gaa>Caa p.E446Q CLIP1_ENST00000540338.1_Missense_Mutation_p.E446Q|CLIP1_ENST00000545889.1_Missense_Mutation_p.E147Q|CLIP1_ENST00000537178.1_Missense_Mutation_p.E446Q|CLIP1_ENST00000302528.7_Missense_Mutation_p.E446Q|CLIP1_ENST00000361654.4_Missense_Mutation_p.E446Q NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 446 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) GATTCTTCTTCAACCCGGAAC 0.393000 19 51 0 0 1 0 0 PNO1 56902 broad.mit.edu 37 2 68389445 68389445 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr2:68389445G>C ENST00000263657.2 + 4 581 c.490G>C c.(490-492)Gaa>Caa p.E164Q RP11-474G23.1_ENST00000406334.3_Intron NM_020143.2 NP_064528.1 Q9NRX1 PNO1_HUMAN partner of NOB1 homolog (S. cerevisiae) 164 nucleolus RNA binding endometrium(1)|large_intestine(1)|lung(2) 4 AGAGTCTTTTGAAATTACAGA 0.423000 9 65 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36489229 36489229 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr17:36489229C>T ENST00000342292.4 - 10 1962 c.1942G>A c.(1942-1944)Gag>Aag p.E648K NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 648 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) AGCTCGTCCTCACACACCTCA 0.617000 4 15 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102486368 102486368 + Missense_Mutation SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr14:102486368G>A ENST00000360184.4 + 42 8646 c.8482G>A c.(8482-8484)Gaa>Aaa p.E2828K NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 2828 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 TTGGGCACATGAAGCTCTGCG 0.542000 4 32 0 0 1 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57869669 57869669 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr12:57869669C>G ENST00000393797.2 - 13 1663 c.1471G>C c.(1471-1473)Gag>Cag p.E491Q ARHGAP9_ENST00000356411.2_Missense_Mutation_p.E420Q|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.E236Q|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.E420Q|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.E420Q|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.E499Q Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 420 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) AGCTCTGTCTCGTGGTCCGAC 0.657000 5 14 0 0 1 0 0 RBL2 5934 broad.mit.edu 37 16 53514499 53514499 + Missense_Mutation SNP G G T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr16:53514499G>T ENST00000262133.6 + 20 3039 c.2902G>T c.(2902-2904)Gtt>Ttt p.V968F RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR NM_005611.3 NP_005602.3 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 968 Domain B.|Pocket; binds E1A. cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 CTCCAGTCCAGTTATGAGGTC 0.493000 15 49 2.23348e-06 2.39893e-06 1 1 0 MAST2 23139 broad.mit.edu 37 1 46498376 46498376 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr1:46498376G>C ENST00000361297.2 + 26 3806 c.3523G>C c.(3523-3525)Gag>Cag p.E1175Q MAST2_ENST00000372009.2_Missense_Mutation_p.E1082Q NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 1175 PDZ. regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) GGAGGTGGTAGAGCTGATCCT 0.592000 8 43 0 0 1 0 0 SP7 121340 broad.mit.edu 37 12 53722332 53722332 + Silent SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr12:53722332G>A ENST00000536324.2 - 3 1177 c.894C>T c.(892-894)atC>atT p.I298I SP7_ENST00000303846.3_Silent_p.I298I|SP7_ENST00000537210.2_Silent_p.I280I NM_001173467.1 NP_001166938.1 Q8TDD2 SP7_HUMAN Sp7 transcription factor 298 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 14 CGCAGCCAGGGATGTGGCAGC 0.652000 5 19 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8153018 8153018 + Missense_Mutation SNP C C A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr19:8153018C>A ENST00000600128.1 - 52 6836 c.6422G>T c.(6421-6423)tGc>tTc p.C2141F FBN3_ENST00000601739.1_Missense_Mutation_p.C2141F|FBN3_ENST00000270509.2_Missense_Mutation_p.C2141F Q75N90 FBN3_HUMAN fibrillin 3 2141 EGF-like 34; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GACATTGGTGCATGTCCCTTG 0.607000 4 25 1 1 1 1 0 MYO5C 55930 broad.mit.edu 37 15 52539115 52539115 + Splice_Site SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr15:52539115C>T ENST00000261839.7 - 16 2139 c.1978G>A c.(1978-1980)Gaa>Aaa p.E660K MYO5C_ENST00000443683.2_3'UTR NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 660 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) AACACTTACTCAAAGGGTAAC 0.468000 5 41 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3208298 3208298 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr4:3208298C>T ENST00000355072.5 + 43 5939 c.5794C>T c.(5794-5796)Cac>Tac p.H1932Y NM_002111.6 NP_002102 P42858 HD_HUMAN huntingtin 1932 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CAGCCTTTCCCACGAGCCTCC 0.473000 7 66 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166924645 166924645 + Silent SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr4:166924645G>A ENST00000061240.2 + 6 1382 c.735G>A c.(733-735)gtG>gtA p.V245V TLL1_ENST00000507499.1_Silent_p.V245V|TLL1_ENST00000513213.1_Silent_p.V245V NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 245 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TGGGTCATGTGATAGGCTTTT 0.453000 7 74 0 0 1 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22861907 22861907 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr15:22861907G>C ENST00000283645.4 + 14 2057 c.1927G>C c.(1927-1929)Gat>Cat p.D643H TUBGCP5_ENST00000453949.2_Missense_Mutation_p.D643H|TUBGCP5_ENST00000559846.1_3'UTR NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 643 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) TGATGTTCATGATCCACTGCT 0.423000 9 97 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57187801 57187801 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr7:57187801C>T ENST00000331162.4 - 5 1591 c.1321G>A c.(1321-1323)Gaa>Aaa p.E441K NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 441 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) TTGCCACATTCTTCACATTTG 0.443000 19 102 0 0 1 0 0 LMOD3 56203 broad.mit.edu 37 3 69168494 69168494 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr3:69168494C>T ENST00000420581.2 - 2 1191 c.1012G>A c.(1012-1014)Gag>Aag p.E338K LMOD3_ENST00000489031.1_Missense_Mutation_p.E338K|LMOD3_ENST00000475434.1_Missense_Mutation_p.E338K NM_198271.3 NP_938012.2 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 338 cytoplasm|cytoskeleton tropomyosin binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1) 13 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) GTTAGCGTCTCATTAAACTGG 0.453000 23 202 0 0 1 0 0 NTAN1 123803 broad.mit.edu 37 16 15141340 15141340 + Missense_Mutation SNP C C A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr16:15141340C>A ENST00000287706.3 - 4 410 c.318G>T c.(316-318)atG>atT p.M106I PDXDC1_ENST00000535621.2_Intron NM_001270766.1|NM_173474.3 NP_001257695.1|NP_775745.1 Q96AB6 NTAN1_HUMAN N-terminal asparagine amidase 106 cytoplasm endometrium(1)|large_intestine(4)|lung(3) 8 TTATGGAGTTCATGATCAAGG 0.478000 12 52 1.5842e-08 1.73912e-08 1 1 0 SORT1 6272 broad.mit.edu 37 1 109867591 109867591 + Silent SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr1:109867591G>A ENST00000256637.6 - 14 1822 c.1764C>T c.(1762-1764)ttC>ttT p.F588F SORT1_ENST00000538502.1_Silent_p.F451F NM_002959.5 NP_002950.3 Q99523 SORT_HUMAN sortilin 1 588 endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) AAGATTCTGTGAAGCCCCAAA 0.468000 7 76 0 0 1 0 0 KARS 3735 broad.mit.edu 37 16 75675477 75675477 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr16:75675477C>G ENST00000319410.5 - 3 412 c.291G>C c.(289-291)gaG>gaC p.E97D KARS_ENST00000302445.3_Missense_Mutation_p.E69D|KARS_ENST00000568378.1_Intron NM_001130089.1 NP_001123561.1 Q15046 SYK_HUMAN lysyl-tRNA synthetase 69 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 18 L-Lysine(DB00123) GGTCCACGCTCTCTTCCTCAG 0.542000 8 33 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884780 24884780 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr14:24884780C>T ENST00000382554.3 + 9 4143 c.3825C>T c.(3823-3825)ctC>ctT p.L1275L NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1275 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 TGGCCCTCCTCCAGGGCCTGC 0.632000 9 50 0 0 1 0 0 PRKRIR 5612 broad.mit.edu 37 11 76062190 76062190 + Silent SNP C C A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr11:76062190C>A ENST00000260045.3 - 5 2109 c.2004G>T c.(2002-2004)ctG>ctT p.L668L NM_004705.2 NP_004696.2 O43422 P52K_HUMAN protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 668 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 TGATGTCAGGCAGGTGGAGGG 0.453000 12 72 2.68362e-12 2.9837e-12 1 1 0 LRRC15 131578 broad.mit.edu 37 3 194080555 194080555 + Silent SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr3:194080555G>A ENST00000347624.3 - 2 1303 c.1218C>T c.(1216-1218)ctC>ctT p.L406L LRRC15_ENST00000428839.1_Silent_p.L412L|LRRC15_ENST00000439944.2_Silent_p.L412L NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 406 integral to membrane biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) CGAAGATGCCGAGGGGCAAGT 0.572000 3 15 0 0 1 0 0 PACSIN1 29993 broad.mit.edu 37 6 34498278 34498278 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr6:34498278G>C ENST00000538621.1 + 8 1196 c.951G>C c.(949-951)gaG>gaC p.E317D PACSIN1_ENST00000244458.2_Missense_Mutation_p.E317D|PACSIN1_ENST00000374043.2_Missense_Mutation_p.E275D NM_001199583.2 NP_001186512.1 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in neurons 1 317 endocytosis protein kinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 13 CCAAGAAGGAGAAACAGCCTA 0.632000 3 19 0 0 1 0 0 TM9SF4 9777 broad.mit.edu 37 20 30737508 30737508 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr20:30737508G>C ENST00000217315.5 + 10 1315 c.975G>C c.(973-975)atG>atC p.M325I TM9SF4_ENST00000398022.2_Missense_Mutation_p.M342I Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 342 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) AGTACCCCATGATCCTCAGCT 0.622000 6 31 0 0 1 0 0 KIAA0922 23240 broad.mit.edu 37 4 154502710 154502710 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr4:154502710C>T ENST00000409959.3 + 9 939 c.890C>T c.(889-891)tCa>tTa p.S297L KIAA0922_ENST00000440693.1_Missense_Mutation_p.S297L|KIAA0922_ENST00000409663.3_Missense_Mutation_p.S297L NM_001131007.1 NP_001124479.1 A2VDJ0 T131L_HUMAN KIAA0922 297 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) TCTGAGACCTCAGGTAAGGTG 0.308000 4 23 0 0 1 0 0 TNNT2 7139 broad.mit.edu 37 1 201334403 201334403 + Silent SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr1:201334403C>G ENST00000509001.1 - 9 583 c.297G>C c.(295-297)ctG>ctC p.L99L TNNT2_ENST00000367317.4_Silent_p.L99L|TNNT2_ENST00000367320.2_Intron|TNNT2_ENST00000367318.5_Silent_p.L99L|TNNT2_ENST00000367315.2_Silent_p.L99L|TNNT2_ENST00000236918.7_Silent_p.L104L|TNNT2_ENST00000367322.1_Silent_p.L99L|TNNT2_ENST00000421663.2_Silent_p.L101L|TNNT2_ENST00000360372.4_Silent_p.L94L|TNNT2_ENST00000458432.2_Silent_p.L111L NM_001276347.1 NP_001263276.1 P45379 TNNT2_HUMAN troponin T type 2 (cardiac) 109 ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|tropomyosin binding|troponin C binding|troponin I binding breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9) 20 GCAACTCATTCAGGTCCTTCT 0.567000 18 103 0 0 1 0 0 TTC14 151613 broad.mit.edu 37 3 180322328 180322328 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr3:180322328C>T ENST00000412756.2 + 5 703 c.634C>T c.(634-636)Ctt>Ttt p.L212F TTC14_ENST00000296015.4_Missense_Mutation_p.L212F|TTC14_ENST00000382584.4_Missense_Mutation_p.L212F NM_001042601.2 NP_001036066.1 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 212 RNA binding endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TAGCTCTTCTCTTCCACCACA 0.338000 14 75 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237806743 237806743 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr1:237806743C>T ENST00000366574.2 + 48 7655 c.7338C>T c.(7336-7338)gcC>gcT p.A2446A RYR2_ENST00000360064.6_Silent_p.A2444A|RYR2_ENST00000542537.1_Silent_p.A2430A NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2446 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAACAATAGCCAAAGGTAAGG 0.443000 8 49 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103291080 103291080 + Missense_Mutation SNP C C A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr8:103291080C>A ENST00000520539.1 - 44 6868 c.6262G>T c.(6262-6264)Gtt>Ttt p.V2088F UBR5_ENST00000521922.1_Missense_Mutation_p.V2082F|UBR5_ENST00000220959.4_Missense_Mutation_p.V2088F NM_001282873.1|NM_015902.5 NP_001269802.1|NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2088 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TCCACTGTAACCTCCATTAAA 0.368000 8 144 0.000274275 0.000284919 1 1 0 BAZ1A 11177 broad.mit.edu 37 14 35234010 35234010 + Missense_Mutation SNP C C A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr14:35234010C>A ENST00000360310.1 - 23 4246 c.3679G>T c.(3679-3681)Gat>Tat p.D1227Y BAZ1A_ENST00000382422.2_Missense_Mutation_p.D1227Y|BAZ1A_ENST00000358716.4_Missense_Mutation_p.D1195Y NM_013448.2 NP_038476.2 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 1227 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) tcaacttcatcatcctcACCT 0.443000 15 58 0.000219431 0.0002314 1 1 0 LRBA 987 broad.mit.edu 37 4 151408924 151408924 + Missense_Mutation SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr4:151408924G>A ENST00000535741.1 - 42 6984 c.6511C>T c.(6511-6513)Cgt>Tgt p.R2171C LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000357115.3_Missense_Mutation_p.R2182C|LRBA_ENST00000507224.1_Missense_Mutation_p.R2171C|LRBA_ENST00000510413.1_Missense_Mutation_p.R2171C P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 2182 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) ACGCCAACACGAGGTAGATAG 0.343000 8 51 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160205274 160205274 + Silent SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr2:160205274G>A ENST00000392783.2 - 30 5703 c.5208C>T c.(5206-5208)ctC>ctT p.L1736L BAZ2B_ENST00000355831.2_Silent_p.L1702L|BAZ2B_ENST00000343439.5_Silent_p.L1636L|BAZ2B_ENST00000392782.1_Silent_p.L1700L NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1736 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 TTATTCCTCTGAGATGCAGCA 0.358000 6 58 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28543158 28543158 + Missense_Mutation SNP A A G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr6:28543158A>G ENST00000452236.2 - 3 1941 c.1324T>C c.(1324-1326)Ttt>Ctt p.F442L NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 442 Integrase catalytic. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 TGGCTTGAAAATTCCCTCCCA 0.413000 12 90 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577559 7577559 + Missense_Mutation SNP G G A rs28934573 TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr17:7577559G>A ENST00000420246.2 - 7 854 c.722C>T c.(721-723)tCc>tTc p.S241F TP53_ENST00000269305.4_Missense_Mutation_p.S241F|TP53_ENST00000455263.2_Missense_Mutation_p.S241F|TP53_ENST00000413465.2_Missense_Mutation_p.S241F|TP53_ENST00000359597.4_Missense_Mutation_p.S241F|TP53_ENST00000445888.2_Missense_Mutation_p.S241F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 241 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCCCATGCAGGAACTGTTACA 0.572000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 8 39 0 0 1 0 0 GIGYF2 26058 broad.mit.edu 37 2 233710508 233710508 + Silent SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr2:233710508C>G ENST00000373566.3 + 27 3635 c.3438C>G c.(3436-3438)ctC>ctG p.L1146L GIGYF2_ENST00000409196.3_Silent_p.L1118L|GIGYF2_ENST00000409451.3_Silent_p.L1145L|GIGYF2_ENST00000409547.1_Silent_p.L1124L|GIGYF2_ENST00000373563.4_Silent_p.L1124L|GIGYF2_ENST00000409480.1_Silent_p.L1146L Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 1124 cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) TGCTGAAGCTCTTTCAGGGAG 0.393000 6 50 0 0 1 0 0 PRMT7 54496 broad.mit.edu 37 16 68373809 68373809 + Missense_Mutation SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr16:68373809G>A ENST00000339507.5 + 9 1695 c.865G>A c.(865-867)Gag>Aag p.E289K PRMT7_ENST00000441236.1_Missense_Mutation_p.E239K|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000348497.4_Missense_Mutation_p.E215K|PRMT7_ENST00000449359.3_Missense_Mutation_p.E239K Q9NVM4 ANM7_HUMAN protein arginine methyltransferase 7 289 cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) AATGGACCCTGAGGGGAAGAT 0.572000 3 36 0 0 1 0 0 ACLY 47 broad.mit.edu 37 17 40042550 40042550 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr17:40042550G>C ENST00000352035.2 - 18 2017 c.1887C>G c.(1885-1887)atC>atG p.I629M ACLY_ENST00000590151.1_Missense_Mutation_p.I629M|ACLY_ENST00000537919.1_Missense_Mutation_p.I358M|ACLY_ENST00000353196.1_Missense_Mutation_p.I619M|ACLY_ENST00000393896.2_Missense_Mutation_p.I619M NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase 629 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) ACCCAGGCTTGATGCCTCCAA 0.552000 4 22 0 0 1 0 0 CLSPN 63967 broad.mit.edu 37 1 36235452 36235452 + Missense_Mutation SNP G G A rs151142512 byFrequency TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr1:36235452G>A ENST00000251195.5 - 1 116 c.20C>T c.(19-21)tCt>tTt p.S7F CLSPN_ENST00000520551.1_Missense_Mutation_p.S7F|CLSPN_ENST00000373220.3_Missense_Mutation_p.S7F|CLSPN_ENST00000318121.3_Missense_Mutation_p.S7F Q9HAW4 CLSPN_HUMAN claspin 7 activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation nucleoplasm anaphase-promoting complex binding|DNA binding NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ACTCACCTCAGAACCCACCTC 0.677000 18 46 0 0 1 0 0 SCG3 29106 broad.mit.edu 37 15 51984443 51984443 + Missense_Mutation SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr15:51984443G>A ENST00000220478.3 + 7 1181 c.778G>A c.(778-780)Gaa>Aaa p.E260K SCG3_ENST00000542355.2_Missense_Mutation_p.E28K NM_013243.3 NP_037375.2 Q8WXD2 SCG3_HUMAN secretogranin III 260 platelet activation|platelet degranulation extracellular region|stored secretory granule breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all cancers(107;0.00488) AAATGGCTTGGAAAGGAGAAC 0.403000 4 80 0 0 1 0 0 SLC7A9 11136 broad.mit.edu 37 19 33349388 33349388 + Missense_Mutation SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr19:33349388G>A ENST00000023064.4 - 9 1126 c.935C>T c.(934-936)tCa>tTa p.S312L SLC7A9_ENST00000590341.1_Missense_Mutation_p.S312L|SLC7A9_ENST00000587772.1_Missense_Mutation_p.S312L NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 312 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) ACCGATGGTTGAAAATGCCAC 0.552000 3 17 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13721340 13721340 + Silent SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr5:13721340G>A ENST00000265104.4 - 71 12152 c.12048C>T c.(12046-12048)atC>atT p.I4016I NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4016 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TGGAGTCCACGATGTACTTGC 0.428000 Kartagener syndrome 10 74 0 0 1 0 0 PYGB 5834 broad.mit.edu 37 20 25273202 25273202 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr20:25273202C>T ENST00000216962.4 + 17 2240 c.2130C>T c.(2128-2130)ttC>ttT p.F710F NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain 710 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 Pyridoxal Phosphate(DB00114) AGAACCTCTTCATCTTCGGCC 0.647000 7 35 0 0 1 0 0 NPFFR2 10886 broad.mit.edu 37 4 72994449 72994449 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr4:72994449C>T ENST00000308744.6 + 2 545 c.447C>T c.(445-447)atC>atT p.I149I NPFFR2_ENST00000358749.3_Silent_p.I47I|NPFFR2_ENST00000395999.1_Silent_p.I50I|NPFFR2_ENST00000344413.5_Intron NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 149 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) TGGCAGCAATCTTCATTATTT 0.368000 7 83 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62296260 62296260 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr11:62296260C>T ENST00000378024.4 - 5 5903 c.5629G>A c.(5629-5631)Gtg>Atg p.V1877M AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1877 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) AATTTTGGCACCGACACATCC 0.517000 23 203 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176696774 176696774 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr5:176696774G>C ENST00000439151.2 + 16 5520 c.5475G>C c.(5473-5475)aaG>aaC p.K1825N NSD1_ENST00000361032.4_Missense_Mutation_p.K1722N|NSD1_ENST00000347982.4_Missense_Mutation_p.K1556N|NSD1_ENST00000354179.4_Missense_Mutation_p.K1556N NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1825 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GCAAGGATAAGATGGGCAAAG 0.448000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 15 43 0 0 1 0 0 CFHR3 10878 broad.mit.edu 37 1 196744061 196744061 + Silent SNP T T C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr1:196744061T>C ENST00000471440.2 + 1 119 c.45T>C c.(43-45)tgT>tgC p.C15C CFHR3_ENST00000367425.4_Silent_p.C15C|CFHR3_ENST00000391985.3_Silent_p.C15C complement factor H-related 3 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 GGGTTTCCTGTGCTAATGGAC 0.333000 7 60 0 0 1 0 0 FBXL5 26234 broad.mit.edu 37 4 15627442 15627442 + Missense_Mutation SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr4:15627442G>A ENST00000341285.3 - 9 1407 c.1283C>T c.(1282-1284)tCa>tTa p.S428L FBXL5_ENST00000412094.2_Missense_Mutation_p.S411L|FBXL5_ENST00000382358.4_Missense_Mutation_p.S302L NM_001193534.1|NM_001193535.1|NM_012161.3 NP_001180463.1|NP_001180464.1|NP_036293.1 Q9UKA1 FBXL5_HUMAN F-box and leucine-rich repeat protein 5 428 iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|SCF ubiquitin ligase complex iron ion binding|protein binding|ubiquitin-protein ligase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 CCACGCAGTTGAAGTAATTTT 0.383000 9 80 0 0 1 0 0 LST1 7940 broad.mit.edu 37 6 31555734 31555734 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr6:31555734G>C ENST00000438075.2 + 4 363 c.126G>C c.(124-126)gaG>gaC p.E42D LST1_ENST00000376111.4_5'UTR|LST1_ENST00000376102.3_Intron|LST1_ENST00000418507.2_Missense_Mutation_p.E11D|LST1_ENST00000376089.2_Missense_Mutation_p.E11D|LST1_ENST00000376100.3_Intron|LST1_ENST00000376099.1_Intron|LST1_ENST00000303757.8_Intron|LST1_ENST00000376093.2_Missense_Mutation_p.E42D|LST1_ENST00000376110.3_Missense_Mutation_p.E11D|LST1_ENST00000376086.3_Missense_Mutation_p.E11D|LST1_ENST00000376090.2_Intron|LST1_ENST00000376092.3_Intron|LST1_ENST00000339530.4_Intron|LST1_ENST00000376096.1_Intron|LST1_ENST00000396101.3_Intron|LST1_ENST00000211921.7_Intron NM_205839.2 NP_995311.2 O00453 LST1_HUMAN leukocyte specific transcript 1 42 cell morphogenesis|dendrite development|immune response|negative regulation of lymphocyte proliferation|regulation of cell shape Golgi membrane|integral to membrane protein binding large_intestine(1) 1 AGAGGCTGGAGAGGAGCTGGG 0.622000 4 22 0 0 1 0 0 BCL9L 283149 broad.mit.edu 37 11 118772178 118772178 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr11:118772178C>T ENST00000334801.3 - 6 3238 c.2274G>A c.(2272-2274)ctG>ctA p.L758L BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 758 Met-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) CCACCTCCCTCAGCCCAGACT 0.622000 4 33 0 0 1 0 0 SLC28A1 9154 broad.mit.edu 37 15 85476467 85476467 + Missense_Mutation SNP C C A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr15:85476467C>A ENST00000394573.1 + 13 1377 c.1175C>A c.(1174-1176)tCc>tAc p.S392Y SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000286749.3_Missense_Mutation_p.S392Y|SLC28A1_ENST00000537216.1_Missense_Mutation_p.S392Y|SLC28A1_ENST00000537624.1_Missense_Mutation_p.S392Y NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 392 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) GTGGAGGAGTCCAAGTTTAGG 0.582000 4 67 0.00909568 0.00936478 1 1 0 DCAF17 80067 broad.mit.edu 37 2 172336557 172336557 + Missense_Mutation SNP A A G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr2:172336557A>G ENST00000375255.3 + 13 1603 c.1276A>G c.(1276-1278)Att>Gtt p.I426V DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Missense_Mutation_p.I359V NM_025000.3 NP_079276.2 Q5H9S7 DCA17_HUMAN DDB1 and CUL4 associated factor 17 426 CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1) 17 GACTTTCAAAATTGTGGACTA 0.343000 17 49 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1044664 1044664 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr19:1044664C>T ENST00000263094.6 + 11 1367 c.1136C>T c.(1135-1137)cCt>cTt p.P379L ABCA7_ENST00000433129.1_Missense_Mutation_p.P379L|ABCA7_ENST00000435683.2_Missense_Mutation_p.P241L NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 379 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTTCTGGACCCTGGGAGCGGT 0.682000 4 29 0 0 1 0 0 HAUS6 54801 broad.mit.edu 37 9 19078279 19078279 + Silent SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr9:19078279G>C ENST00000380502.3 - 10 1553 c.1086C>G c.(1084-1086)ctC>ctG p.L362L HAUS6_ENST00000380496.1_Silent_p.L226L NM_001270890.1|NM_017645.4 NP_001257819.1|NP_060115.3 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 362 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTATAGTTGTGAGATCATCTT 0.279000 4 51 0 0 1 0 0 KLF17 128209 broad.mit.edu 37 1 44595068 44595068 + Missense_Mutation SNP C C A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr1:44595068C>A ENST00000372299.3 + 2 183 c.125C>A c.(124-126)tCt>tAt p.S42Y KLF17_ENST00000476802.1_3'UTR NM_173484.3 NP_775755.3 Q5JT82 KLF17_HUMAN Kruppel-like factor 17 42 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) TCTTCATCTTCTGGAAGCTCT 0.498000 15 74 1.15088e-07 1.25158e-07 1 1 0 ZNF224 7767 broad.mit.edu 37 19 44611924 44611924 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr19:44611924G>C ENST00000336976.6 + 6 1865 c.1611G>C c.(1609-1611)gaG>gaC p.E537D AC084219.4_ENST00000592946.1_RNA NM_013398.2 NP_037530.2 Q9NZL3 ZN224_HUMAN zinc finger protein 224 537 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) ACACAGGAGAGAGACCATACA 0.428000 8 88 0 0 1 0 0 ADCY5 111 broad.mit.edu 37 3 123014951 123014951 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr3:123014951C>G ENST00000462833.1 - 17 4255 c.3043G>C c.(3043-3045)Gac>Cac p.D1015H ADCY5_ENST00000491190.1_Missense_Mutation_p.D673H|ADCY5_ENST00000309879.5_Missense_Mutation_p.D665H NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 1015 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) CAGAGGAAGTCGAGGCGGGCA 0.632000 9 19 0 0 1 0 0 C1QTNF7 114905 broad.mit.edu 37 4 15444375 15444375 + Nonsense_Mutation SNP C C A rs144156971 by1000genomes TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr4:15444375C>A ENST00000295297.4 + 3 1102 c.843C>A c.(841-843)taC>taA p.Y281* C1QTNF7_ENST00000444304.2_Nonsense_Mutation_p.Y274*|C1QTNF7_ENST00000429690.1_Nonsense_Mutation_p.Y274* NM_001135170.1 NP_001128642.1 Q9BXJ2 C1QT7_HUMAN C1q and tumor necrosis factor related protein 7 274 collagen p.Y274Y(1) endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 16 TTCTCTTATACGTTGACACAG 0.453000 8 96 5.18039e-06 5.547e-06 1 1 0 GYPA 2993 broad.mit.edu 37 4 145035857 145035857 + Nonsense_Mutation SNP C C A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr4:145035857C>A ENST00000360771.4 - 6 536 c.421G>T c.(421-423)Gaa>Taa p.E141* GYPA_ENST00000324022.10_Nonsense_Mutation_p.E108*|GYPA_ENST00000512064.1_Nonsense_Mutation_p.E128*|GYPA_ENST00000535709.1_Nonsense_Mutation_p.E115*|GYPB_ENST00000283126.7_Intron|GYPA_ENST00000503627.1_Nonsense_Mutation_p.E96*|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512789.1_Nonsense_Mutation_p.E76*|GYPA_ENST00000504786.1_Nonsense_Mutation_p.E109* NM_002099.6 NP_002090.4 P02724 GLPA_HUMAN glycophorin A (MNS blood group) 141 interspecies interaction between organisms membrane fraction receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 10 all_hematologic(180;0.15) TTTTCTATTTCAACAGAACTT 0.353000 12 24 1.5842e-08 1.73912e-08 1 1 0 MTMR2 8898 broad.mit.edu 37 11 95582905 95582905 + Missense_Mutation SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr11:95582905G>A ENST00000393223.3 - 11 1372 c.710C>T c.(709-711)tCc>tTc p.S237F MTMR2_ENST00000409459.1_Missense_Mutation_p.S237F|MTMR2_ENST00000352297.7_Missense_Mutation_p.S237F|MTMR2_ENST00000346299.5_Missense_Mutation_p.S309F NM_001243571.1|NM_201278.2 NP_001230500.1|NP_958435.1 Q13614 MTMR2_HUMAN myotubularin related protein 2 309 Myotubularin phosphatase. nucleus inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CTGGGCATTGGAATCCATGAT 0.423000 10 112 0 0 1 0 0 OR5M10 390167 broad.mit.edu 37 11 56344681 56344681 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr11:56344681C>G ENST00000526812.2 - 1 582 c.517G>C c.(517-519)Gaa>Caa p.E173Q NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 TGATTGATTTCAAGGGAGCCA 0.468000 7 42 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101589897 101589897 + Missense_Mutation SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr15:101589897G>A ENST00000284395.5 + 24 3739 c.3339G>A c.(3337-3339)atG>atA p.M1113I LRRK1_ENST00000388948.3_Missense_Mutation_p.M1116I Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1116 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GCGGAGGAATGAAAATTGTTT 0.493000 5 73 0 0 1 0 0 CCDC149 91050 broad.mit.edu 37 4 24839880 24839880 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr4:24839880C>T ENST00000504487.1 - 5 393 c.387G>A c.(385-387)acG>acA p.T129T CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000502801.1_Intron|CCDC149_ENST00000389609.4_Silent_p.T129T NM_001130726.2 NP_001124198.1 B4DZG3 B4DZG3_HUMAN coiled-coil domain containing 149 129 cervix(1)|endometrium(1)|large_intestine(2)|lung(3) 7 Breast(46;0.173) GTTTGGCAATCGTCATCCTCA 0.458000 3 74 0 0 1 0 0 LARP4B 23185 broad.mit.edu 37 10 860928 860928 + Nonsense_Mutation SNP G G T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr10:860928G>T ENST00000316157.3 - 15 1818 c.1778C>A c.(1777-1779)tCa>tAa p.S593* LARP4B_ENST00000469487.1_5'UTR NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 593 nucleotide binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 GTACGTTGCTGATACAGCACA 0.557000 8 21 5.4927e-09 6.06813e-09 1 1 0 S100A9 6280 broad.mit.edu 37 1 153333125 153333125 + Silent SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr1:153333125G>A ENST00000368738.3 + 3 199 c.156G>A c.(154-156)gaG>gaA p.E52E NM_002965.3 NP_002956.1 P06702 S10A9_HUMAN S100 calcium binding protein A9 52 cell-cell signaling cytoplasm|cytoskeleton|nucleus|plasma membrane calcium ion binding|protein binding|signal transducer activity breast(1)|endometrium(1)|large_intestine(2) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) CGCAGAAGGAGAATAAGAATG 0.527000 18 53 0 0 1 0 0 DPP3 10072 broad.mit.edu 37 11 66276567 66276567 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr11:66276567C>G ENST00000532677.1 + 18 2517 c.2116C>G c.(2116-2118)Ctg>Gtg p.L706V DPP3_ENST00000531863.1_Missense_Mutation_p.L707V|DPP3_ENST00000530165.1_Missense_Mutation_p.L657V|DPP3_ENST00000541961.1_Missense_Mutation_p.L687V|DPP3_ENST00000453114.1_Missense_Mutation_p.L687V|CTD-3074O7.11_ENST00000419755.3_5'UTR|DPP3_ENST00000360510.2_Missense_Mutation_p.L687V NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 687 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 CGTGCAGCTTCTGGAATACGA 0.507000 8 51 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 48919281 48919281 + Nonsense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr13:48919281C>G ENST00000267163.4 + 4 584 c.446C>G c.(445-447)tCa>tGa p.S149* NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 149 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(6) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AATGCTATGTCAAGACTGTTG 0.289000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 31 125 0 0 1 0 0 LRRC16A 55604 broad.mit.edu 37 6 25479352 25479352 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr6:25479352C>G ENST00000377969.3 + 12 1040 c.408C>G c.(406-408)atC>atG p.I136M LRRC16A_ENST00000329474.6_Intron Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 0 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 ctaccaagatcaagagacaga 0.438000 20 154 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118371720 118371720 + Nonsense_Mutation SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr11:118371720G>A ENST00000534358.1 + 25 6200 c.6177G>A c.(6175-6177)tgG>tgA p.W2059* KMT2A_ENST00000389506.5_Nonsense_Mutation_p.W2056*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.W2018* NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A GGGTATACTGGAGCACCACAG 0.458000 10 49 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 4 80 0 0 1 0 0 MYRF 745 broad.mit.edu 37 11 61548735 61548735 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr11:61548735C>G ENST00000278836.5 + 21 2794 c.2698C>G c.(2698-2700)Ctt>Gtt p.L900V MYRF_ENST00000265460.5_Missense_Mutation_p.L865V|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000389602.4_Missense_Mutation_p.L291V NM_001127392.1 NP_001120864.1 myelin regulatory factor tggtcctagtcttggccccag 0.617000 9 32 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6145933 6145933 + Silent SNP C C A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr6:6145933C>A ENST00000264870.3 - 15 2383 c.2118G>T c.(2116-2118)ctG>ctT p.L706L NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 706 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) TGCTGGCTATCAGCTTCCGAT 0.547000 4 76 0.00024832 0.000258729 1 1 0 SRRM2 23524 broad.mit.edu 37 16 2815271 2815271 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr16:2815271C>T ENST00000301740.8 + 11 5291 c.4742C>T c.(4741-4743)tCa>tTa p.S1581L NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1581 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 CGGTCTGGATCATCTCCAGAG 0.532000 5 48 0 0 1 0 0 SLFNL1 200172 broad.mit.edu 37 1 41481862 41481862 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr1:41481862C>T ENST00000359345.1 - 4 3716 c.1140G>A c.(1138-1140)atG>atA p.M380I SLFNL1_ENST00000439569.2_Missense_Mutation_p.M380I|SLFNL1_ENST00000397197.2_Missense_Mutation_p.M332I|SLFNL1_ENST00000372613.2_Missense_Mutation_p.M332I|SLFNL1_ENST00000372611.1_Missense_Mutation_p.M321I|SLFNL1_ENST00000302946.8_Missense_Mutation_p.M380I NM_144990.3 NP_659427.3 Q499Z3 SLNL1_HUMAN schlafen-like 1 380 ATP binding endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0393) TCAGCGCCTTCATCTTCTCTT 0.642000 6 58 0 0 1 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37734845 37734845 + Missense_Mutation SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr8:37734845G>A ENST00000330843.4 - 2 608 c.596C>T c.(595-597)tCg>tTg p.S199L RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.S51L|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.S199L|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.S51L NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 199 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) ACTGTCGACCGAAGGTGTCGT 0.463000 11 110 0 0 1 0 0 LMOD3 56203 broad.mit.edu 37 3 69168492 69168492 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr3:69168492C>T ENST00000420581.2 - 2 1193 c.1014G>A c.(1012-1014)gaG>gaA p.E338E LMOD3_ENST00000489031.1_Silent_p.E338E|LMOD3_ENST00000475434.1_Silent_p.E338E NM_198271.3 NP_938012.2 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 338 cytoplasm|cytoskeleton tropomyosin binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1) 13 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) CAGTTAGCGTCTCATTAAACT 0.453000 23 202 0 0 1 0 0 IP6K3 117283 broad.mit.edu 37 6 33690952 33690952 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr6:33690952C>T ENST00000451316.1 - 7 1313 c.778G>A c.(778-780)Gat>Aat p.D260N IP6K3_ENST00000293756.4_Missense_Mutation_p.D260N NM_001142883.1 NP_001136355.1 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 260 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity skin(1) 1 TACTTCTTATCTGTTTGATAA 0.368000 5 21 0 0 1 0 0 DMXL1 1657 broad.mit.edu 37 5 118500301 118500301 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr5:118500301C>G ENST00000311085.8 + 20 4882 c.4802C>G c.(4801-4803)tCt>tGt p.S1601C DMXL1_ENST00000539542.1_Missense_Mutation_p.S1601C NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 1601 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) CCCACTTGGTCTGAACTAAGA 0.448000 9 52 0 0 1 0 0 ATXN2L 11273 broad.mit.edu 37 16 28841315 28841315 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr16:28841315G>C ENST00000336783.4 + 8 1137 c.970G>C c.(970-972)Gag>Cag p.E324Q ATXN2L_ENST00000564304.1_Missense_Mutation_p.E324Q|ATXN2L_ENST00000340394.8_Missense_Mutation_p.E324Q|ATXN2L_ENST00000325215.6_Missense_Mutation_p.E324Q|ATXN2L_ENST00000570200.1_Missense_Mutation_p.E324Q|ATXN2L_ENST00000395547.2_Missense_Mutation_p.E324Q|ATXN2L_ENST00000382686.4_Missense_Mutation_p.E324Q NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 324 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 GCGCACTGAAGAGGAGAAGCA 0.617000 16 24 0 0 1 0 0 WEE2 494551 broad.mit.edu 37 7 141414017 141414017 + Silent SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr7:141414017G>A ENST00000397541.2 + 2 757 c.351G>A c.(349-351)ctG>ctA p.L117L WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000459753.1_RNA NM_001105558.1 NP_001099028.1 P0C1S8 WEE2_HUMAN WEE1 homolog 2 (S. pombe) 117 egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 Melanoma(164;0.0171) AGACCATGCTGAGCCGGTTGG 0.433000 17 66 0 0 1 0 0 ANKDD1A 348094 broad.mit.edu 37 15 65208100 65208100 + Splice_Site SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr15:65208100G>C ENST00000380230.3 + 2 167 c.e2+1 ANKDD1A_ENST00000395720.1_Splice_Site|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000319580.8_Intron|ANKDD1A_ENST00000496660.1_Intron|ANKDD1A_ENST00000491145.1_Splice_Site|ANKDD1A_ENST00000357698.3_Splice_Site NM_182703.3 NP_874362.3 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A signal transduction NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2) 21 CAGAAACCACGTGCGTAATGA 0.552000 3 15 0 0 1 0 0 CXorf56 63932 broad.mit.edu 37 X 118676491 118676491 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chrX:118676491C>T ENST00000320339.4 - 5 614 c.343G>A c.(343-345)Gaa>Aaa p.E115K CXorf56_ENST00000536133.1_Missense_Mutation_p.E150K|CXorf56_ENST00000371594.4_Missense_Mutation_p.E164K|CXorf56_ENST00000469448.1_5'UTR NM_001170569.1 NP_001164040.1 Q9H5V9 CX056_HUMAN chromosome X open reading frame 56 164 protein binding cervix(1)|endometrium(2)|lung(7) 10 TCTTCCTCTTCATCAATGGTA 0.507000 20 34 0 0 1 0 0 C3orf20 84077 broad.mit.edu 37 3 14746102 14746102 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr3:14746102C>G ENST00000253697.3 + 7 1589 c.1137C>G c.(1135-1137)ttC>ttG p.F379L C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000435614.1_Missense_Mutation_p.F257L|C3orf20_ENST00000412910.1_Missense_Mutation_p.F257L NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 379 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 ATTACACCTTCTATGATGGCT 0.483000 10 88 0 0 1 0 0 VPS9D1 9605 broad.mit.edu 37 16 89776196 89776196 + Silent SNP C C A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr16:89776196C>A ENST00000561976.1 - 10 1544 c.1167G>T c.(1165-1167)ctG>ctT p.L389L VPS9D1_ENST00000389386.3_Silent_p.L459L VPS9 domain containing 1 TGTACAGGGCCAGCAGCAGAG 0.627000 6 50 0.0215528 0.0219952 1 1 0 LMTK3 114783 broad.mit.edu 37 19 49013407 49013407 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr19:49013407C>T ENST00000600059.1 - 3 461 c.234G>A c.(232-234)gaG>gaA p.E78E LMTK3_ENST00000270238.3_Silent_p.E107E lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) CGGAGCAGTCCTCCCCTTCAG 0.592000 3 21 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41553245 41553245 + Nonsense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr22:41553245C>T ENST00000263253.7 + 18 4553 c.3334C>T c.(3334-3336)Cag>Tag p.Q1112* NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1112 Bromo. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 TGGACAGTATCAGGAGCCCTG 0.398000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 8 46 0 0 1 0 0 ATRN 8455 broad.mit.edu 37 20 3520912 3520912 + Missense_Mutation SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr20:3520912G>A ENST00000262919.5 + 3 606 c.538G>A c.(538-540)Gag>Aag p.E180K ATRN_ENST00000446916.2_Missense_Mutation_p.E180K NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 180 CUB. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 TTTTGCTACAGAGTGTAGTTG 0.333000 9 123 0 0 1 0 0 PDXDC2P 283970 broad.mit.edu 37 16 70010650 70010650 + RNA SNP A A G rs144900726 by1000genomes TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr16:70010650A>G ENST00000531894.1 - 0 3748 NR_003610.1 AGGGCCGAAGAAGGGAATGTT 0.468000 3 70 0 0 1 0 0 ZNF33B 7582 broad.mit.edu 37 10 43089893 43089893 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr10:43089893C>T ENST00000359467.3 - 5 619 c.505G>A c.(505-507)Gaa>Aaa p.E169K ZNF33B_ENST00000486187.1_RNA NM_006955.1 NP_008886.1 Q06732 ZN33B_HUMAN zinc finger protein 33B 169 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E169K(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 GCATTAAATTCGTCAGACTTT 0.328000 7 70 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 432705 432705 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr3:432705G>C ENST00000256509.2 + 22 3296 c.2654G>C c.(2653-2655)aGa>aCa p.R885T CHL1_ENST00000397491.2_Missense_Mutation_p.R869T NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 869 Fibronectin type-III 3. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) AACATTCTAAGATTTTCAGGA 0.358000 13 35 0 0 1 0 0 PDPR 55066 broad.mit.edu 37 16 70162999 70162999 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr16:70162999C>T ENST00000288050.4 + 6 1538 c.581C>T c.(580-582)gCc>gTc p.A194V PDPR_ENST00000568530.1_Missense_Mutation_p.A194V|PDPR_ENST00000398122.3_Missense_Mutation_p.A94V NM_017990.3 NP_060460.4 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory subunit 194 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) GTGGCTCTTGCCCTGGCAAGT 0.527000 4 141 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41906066 41906066 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr8:41906066G>C ENST00000396930.3 - 3 973 c.430C>G c.(430-432)Cac>Gac p.H144D KAT6A_ENST00000485568.1_Missense_Mutation_p.H144D|KAT6A_ENST00000265713.2_Missense_Mutation_p.H144D|KAT6A_ENST00000406337.1_Missense_Mutation_p.H144D NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 144 H15.|Required for activation of RUNX1-1.|Required for nuclear localization. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding AACTGCTGGTGAAAGCCAGAG 0.483000 4 30 0 0 1 0 0 IL24 11009 broad.mit.edu 37 1 207076386 207076386 + Silent SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr1:207076386G>A ENST00000367093.3 + 6 721 c.447G>A c.(445-447)caG>caA p.Q149Q IL24_ENST00000491169.1_3'UTR|IL24_ENST00000294984.2_Silent_p.Q201Q|IL24_ENST00000391929.3_Silent_p.Q202Q NM_001185157.1|NM_001185158.1 NP_001172086.1|NP_001172087.1 Q13007 IL24_HUMAN interleukin 24 201 apoptosis extracellular space cytokine activity endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Breast(84;0.201) CCTGGATGCAGAAATTCTACA 0.498000 11 94 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68233027 68233027 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr14:68233027C>T ENST00000347230.4 - 32 6066 c.5928G>A c.(5926-5928)acG>acA p.T1976T ZFYVE26_ENST00000555452.1_Silent_p.T1976T NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1976 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TCATGATGTCCGTGAGCAGCC 0.592000 13 46 0 0 1 0 0 RALBP1 10928 broad.mit.edu 37 18 9533819 9533819 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr18:9533819C>G ENST00000019317.4 + 9 1919 c.1696C>G c.(1696-1698)Ctg>Gtg p.L566V RALBP1_ENST00000383432.3_Missense_Mutation_p.L566V Q15311 RBP1_HUMAN ralA binding protein 1 566 chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport cytosol|membrane ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1) 14 GAACGAAGAGCTGGAAGTGAG 0.453000 4 60 0 0 1 0 0 LATS2 26524 broad.mit.edu 37 13 21620025 21620025 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr13:21620025C>T ENST00000382592.4 - 2 546 c.141G>A c.(139-141)ctG>ctA p.L47L LATS2_ENST00000542899.1_Silent_p.L47L NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 47 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) CTTTGGCATCCAGGGAAGTGT 0.547000 17 41 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41790682 41790682 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr8:41790682G>C ENST00000396930.3 - 18 5599 c.5056C>G c.(5056-5058)Cag>Gag p.Q1686E KAT6A_ENST00000265713.2_Missense_Mutation_p.Q1686E|KAT6A_ENST00000406337.1_Missense_Mutation_p.Q1686E NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1686 Gln/Pro-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding tgctggggctgaggctgcggc 0.652000 5 11 0 0 1 0 0 SYT3 84258 broad.mit.edu 37 19 51133423 51133423 + Missense_Mutation SNP G G A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr19:51133423G>A ENST00000338916.4 - 3 1313 c.680C>T c.(679-681)cCa>cTa p.P227L SYT3_ENST00000544769.1_Missense_Mutation_p.P227L|SYT3_ENST00000593901.1_Missense_Mutation_p.P227L|SYT3_ENST00000600079.1_Missense_Mutation_p.P227L NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III 227 cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) GGGCAGGGCTGGGTACCTGTA 0.672000 5 9 0 0 1 0 0 TRMT112 51504 broad.mit.edu 37 11 64084559 64084559 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr11:64084559G>C ENST00000544844.1 - 3 798 c.241C>G c.(241-243)Ctg>Gtg p.L81V TRMT112_ENST00000535750.1_Missense_Mutation_p.L37V|TRMT112_ENST00000308774.2_Missense_Mutation_p.L76V|TRMT112_ENST00000539854.1_Missense_Mutation_p.L81V|TRMT112_ENST00000535126.1_3'UTR Q9UI30 TR112_HUMAN tRNA methyltransferase 11-2 homolog (S. cerevisiae) 81 TRM112. peptidyl-glutamine methylation protein complex protein binding|protein methyltransferase activity large_intestine(1)|upper_aerodigestive_tract(1) 2 ATGGTCCTCAGAAACTCCTCA 0.597000 8 18 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32093069 32093069 + Nonsense_Mutation SNP C C A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr5:32093069C>A ENST00000438447.1 + 21 8172 c.7784C>A c.(7783-7785)tCg>tAg p.S2595* PDZD2_ENST00000282493.3_Nonsense_Mutation_p.S2595* O15018 PDZD2_HUMAN PDZ domain containing 2 2595 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 TCTGTTTTATCGTCAGTGGGA 0.388000 4 92 1 1 1 1 0 VPS9D1 9605 broad.mit.edu 37 16 89776195 89776195 + Missense_Mutation SNP C C A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr16:89776195C>A ENST00000561976.1 - 10 1545 c.1168G>T c.(1168-1170)Gcc>Tcc p.A390S VPS9D1_ENST00000389386.3_Missense_Mutation_p.A460S VPS9 domain containing 1 CTGTACAGGGCCAGCAGCAGA 0.627000 6 46 0.0215528 0.0219952 1 1 0 ATR 545 broad.mit.edu 37 3 142185294 142185294 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr3:142185294C>T ENST00000350721.4 - 40 6890 c.6769G>A c.(6769-6771)Gaa>Aaa p.E2257K ATR_ENST00000383101.3_Missense_Mutation_p.E2193K|RP11-383G6.3_ENST00000460977.1_RNA NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 2257 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 ATGAGGATTTCACTAAATGTT 0.383000 Other conserved DNA damage response genes 6 42 0 0 1 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22851014 22851014 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr15:22851014G>C ENST00000283645.4 + 11 1406 c.1276G>C c.(1276-1278)Gat>Cat p.D426H TUBGCP5_ENST00000453949.2_Missense_Mutation_p.D426H|TUBGCP5_ENST00000559846.1_3'UTR NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 426 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) AGTTCCACCTGATACTCGAAA 0.468000 3 77 0 0 1 0 0 SERPINI2 5276 broad.mit.edu 37 3 167170773 167170773 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr3:167170773C>T ENST00000476257.1 - 7 1213 c.915G>A c.(913-915)ttG>ttA p.L305L SERPINI2_ENST00000264677.4_Silent_p.L305L|SERPINI2_ENST00000471111.1_Silent_p.L305L|SERPINI2_ENST00000461846.1_Silent_p.L305L O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 305 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 CGGTTATGTTCAAAGAATACA 0.279000 12 72 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111397613 111397613 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr4:111397613C>G ENST00000265162.5 + 1 385 c.43C>G c.(43-45)Caa>Gaa p.Q15E NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 15 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) ATACTGCATTCAAACGAAACA 0.453000 20 85 0 0 1 0 0 RGL3 57139 broad.mit.edu 37 19 11513144 11513144 + Missense_Mutation SNP G G T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr19:11513144G>T ENST00000380456.3 - 11 1379 c.1316C>A c.(1315-1317)cCg>cAg p.P439Q RGL3_ENST00000393423.3_Missense_Mutation_p.P439Q NM_001035223.2|NM_001161616.1 NP_001030300.2|NP_001155088.1 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation stimulator-like 3 439 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1) 18 CAACATATCCGGCAGGGCTGT 0.602000 3 30 0.150653 0.151963 1 1 0 TMEM110 375346 broad.mit.edu 37 3 52878902 52878902 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr3:52878902G>C ENST00000355083.5 - 5 628 c.483C>G c.(481-483)atC>atG p.I161M TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.I161M NM_198563.2 NP_940965.1 transmembrane protein 110 kidney(1)|large_intestine(1)|lung(2) 4 BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541) CAAAAATCATGATCACGATGT 0.547000 4 45 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65342558 65342558 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr3:65342558C>T ENST00000402939.2 - 23 3883 c.3884G>A c.(3883-3885)cGa>cAa p.R1295Q MAGI1_ENST00000330909.8_3'UTR NM_001033057.1 NP_001028229.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 1324 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GTCCTTGGGTCGGCATGCCCC 0.672000 6 41 0 0 1 0 0 MTSS1 9788 broad.mit.edu 37 8 125601934 125601934 + Silent SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr8:125601934C>G ENST00000518547.1 - 5 785 c.312G>C c.(310-312)ctG>ctC p.L104L MTSS1_ENST00000325064.5_Silent_p.L104L|MTSS1_ENST00000378017.3_Silent_p.L104L|MTSS1_ENST00000354184.4_5'UTR NM_001282971.1|NM_014751.4 NP_001269900.1|NP_055566.3 O43312 MTSS1_HUMAN metastasis suppressor 1 104 IMD. actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) GTGGGTTTATCAGACAATCAA 0.423000 16 171 0 0 1 0 0 PNKP 11284 broad.mit.edu 37 19 50367478 50367478 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr19:50367478C>G ENST00000322344.3 - 6 703 c.594G>C c.(592-594)gaG>gaC p.E198D PNKP_ENST00000596014.1_Missense_Mutation_p.E198D|PNKP_ENST00000600573.1_Missense_Mutation_p.E198D|PNKP_ENST00000600910.1_Missense_Mutation_p.E198D NM_007254.3 NP_009185.2 Q96T60 PNKP_HUMAN polynucleotide kinase 3'-phosphatase 198 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) TACGGGGAATCTCTGGGTACA 0.617000 Other BER factors 7 40 0 0 1 0 0 SLC39A2 29986 broad.mit.edu 37 14 21469393 21469393 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr14:21469393C>T ENST00000298681.4 + 4 742 c.585C>T c.(583-585)ctC>ctT p.L195L SLC39A2_ENST00000554422.1_3'UTR NM_014579.3 NP_055394.2 Q9NP94 S39A2_HUMAN solute carrier family 39 (zinc transporter), member 2 195 cytoplasmic membrane-bounded vesicle|integral to plasma membrane zinc ion transmembrane transporter activity breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 14 all_cancers(95;0.00267) OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08) GBM - Glioblastoma multiforme(265;0.0187) CCGTGCAGCTCTGCCTTGCTG 0.562000 4 49 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 94120421 94120421 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr6:94120421C>G ENST00000369303.4 - 3 814 c.630G>C c.(628-630)gaG>gaC p.E210D EPHA7_ENST00000369297.1_Missense_Mutation_p.E210D NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 210 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TAGCTAAGTTCTCAATAATGG 0.438000 4 39 0 0 1 0 0 GPSM2 29899 broad.mit.edu 37 1 109466662 109466665 + Frame_Shift_Del DEL TTTA TTTA - TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr1:109466662_109466665delTTTA ENST00000406462.2 + 15 2414_2417 c.1641_1644delTTTA c.(1639-1644)tttttafs p.FL547fs GPSM2_ENST00000264126.3_Frame_Shift_Del_p.FL547fs|AKNAD1_ENST00000357393.4_Intron P81274 GPSM2_HUMAN G-protein signaling modulator 2 GoLoco 2. G-protein coupled receptor protein signaling pathway cell cortex|nucleus GTPase activator activity|identical protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3) 14 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209) CGGATGAGTTTTTAGATCTTCTTG 0.417 12 108 --- --- --- --- KCNN2 3781 broad.mit.edu 37 5 113698631 113698632 + In_Frame_Ins INS - - GCC rs34838882 by1000genomes TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr5:113698631_113698632insGCC ENST00000512097.3 + 2 1177_1178 c.159_160insGCC c.(160-162)gcc>GCCgcc p.54_54A>AA KCNN2_ENST00000264773.3_In_Frame_Ins_p.54_54A>AA Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 54 Poly-Ala. integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) CTGCAGCCGCTGCCGCCGCCGC 0.703 4 2 --- --- --- --- RP11-493L12.5 0 broad.mit.edu 37 12 47761313 47761314 + RNA INS - - T rs57593482 TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr12:47761313_47761314insT ENST00000550019.1 + 0 262 ttcgctctctattttttttttt 0.406 4 7 --- --- --- --- L3HYPDH 112849 broad.mit.edu 37 14 59950619 59950619 + Frame_Shift_Del DEL C C - TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr14:59950619delC ENST00000247194.4 - 1 529 c.416delG c.(415-417)tgcfs p.C139fs RP11-701B16.2_ENST00000554253.1_RNA NM_144581.1 NP_653182.1 L-3-hydroxyproline dehydratase (trans-) CACCAGCCCGCAGGGGCAGTG 0.716 OREG0022712 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- UBR7 55148 broad.mit.edu 37 14 93681536 93681537 + Frame_Shift_Ins INS - - C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr14:93681536_93681537insC ENST00000013070.6 + 6 746_747 c.510_511insC c.(511-513)cccfs p.P171fs RP11-371E8.4_ENST00000557048.1_3'UTR|UBR7_ENST00000416753.1_Frame_Shift_Ins_p.P95fs NM_175748.3 NP_786924.2 Q8N806 UBR7_HUMAN ubiquitin protein ligase E3 component n-recognin 7 (putative) 171 ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1) 19 TTGGTGCCATTCCCCCTGAGAG 0.401 2 4 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27027202 27027204 + In_Frame_Del DEL AGC AGC - TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f0988ed-09a8-47ad-8a9a-3746506ee7d7 e289a5d3-7246-44ca-97a9-4d90f37c14a9 g.chr17:27027202_27027204delAGC ENST00000314616.6 + 34 4856_4858 c.4573_4575delAGC c.(4573-4575)agcdel p.S1528del SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1528 Poly-Ser. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CATCACCCCTAGCAGCAGCAGCA 0.537 8 135 --- --- --- ---