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 ARFGEF1 10565 broad.mit.edu 37 8 68170031 68170031 + Missense_Mutation SNP G G A rs143470468 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr8:68170031G>A ENST00000262215.3 - 17 2851 c.2462C>T c.(2461-2463)gCg>gTg p.A821V ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A275V NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 821 SEC7. exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) AGCTGTATCCGCACTAGCAAA 0.328000 5 518 0 0 1 0 0 GPX1 2876 broad.mit.edu 37 3 49395586 49395586 + Silent SNP G G T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr3:49395586G>T ENST00000419783.1 - 1 447 c.126C>A c.(124-126)atC>atA p.I42I GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_Silent_p.I42I NM_000581.2 NP_000572.2 P07203 GPX1_HUMAN glutathione peroxidase 1 42 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CCACATTCTCGATAAGTAGTA 0.711000 4 93 0.27861 0.279976 1 1 0 RUNX2 860 broad.mit.edu 37 6 45390482 45390482 + Missense_Mutation SNP C C G TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr6:45390482C>G ENST00000371438.1 + 2 569 c.211C>G c.(211-213)Cag>Gag p.Q71E RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 71 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 gcagcagcagcaggaggcggc 0.716000 5 101 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133381515 133381515 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr12:133381515G>A ENST00000204726.3 - 7 1942 c.1384C>T c.(1384-1386)Cgg>Tgg p.R462W GOLGA3_ENST00000450791.2_Missense_Mutation_p.R462W|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R462W|GOLGA3_ENST00000545875.1_Missense_Mutation_p.R462W|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R462W NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 462 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GAATCCTGCCGCTGCTGGCTG 0.612000 6 403 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41790659 41790659 + Silent SNP T T G TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr8:41790659T>G ENST00000396930.3 - 18 5622 c.5079A>C c.(5077-5079)ccA>ccC p.P1693P KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1693 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 ggggagggggtgggggtggag 0.627000 11 116 0 0 1 0 0 KCNA7 3743 broad.mit.edu 37 19 49573549 49573549 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr19:49573549G>A ENST00000221444.1 - 2 1497 c.1142C>T c.(1141-1143)gCg>gTg p.A381V NM_031886.2 NP_114092.2 Q96RP8 KCNA7_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 7 381 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2) 11 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441) CAGCACGCCCGCAATGGCACA 0.557000 4 197 0 0 1 0 0 OR2T12 127064 broad.mit.edu 37 1 248458256 248458256 + Missense_Mutation SNP A A G TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:248458256A>G ENST00000317996.1 - 1 624 c.625T>C c.(625-627)Ttt>Ctt p.F209L NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F209L(1) endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) ATGAGGGAAAAGGGGACCAGG 0.547000 5 440 0 0 1 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78290635 78290635 + Missense_Mutation SNP C C T rs117285325 by1000genomes TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr15:78290635C>T ENST00000409931.3 - 13 2778 c.2707G>A c.(2707-2709)Gac>Aac p.D903N TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 0 intracellular protein binding|Rab GTPase activator activity p.D903N(3)|p.R920Q(1) breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 GTAGGCGCGTCGGTTCCGGAT 0.617000 4 72 0 0 1 0 0 PCDHB4 0 broad.mit.edu 37 5 140503632 140503632 + Silent SNP T T C TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:140503632T>C ENST00000194152.1 + 1 2052 c.2052T>C c.(2050-2052)tcT>tcC p.S684S NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 684 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGCCGACTCTCTCACCGTCT 0.697000 9 1034 0 0 1 0 0 IL3RA 3563 broad.mit.edu 37 X 1497572 1497572 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chrX:1497572G>A ENST00000331035.4 + 10 1244 c.895G>A c.(895-897)Gca>Aca p.A299T IL3RA_ENST00000381469.2_Missense_Mutation_p.A221T NM_001267713.1|NM_002183.3 NP_001254642.1|NP_002174.1 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha (low affinity) 299 integral to membrane|plasma membrane interleukin-3 receptor activity lung(1)|skin(2) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GGAGGAGGGCGCAAACACACG 0.672000 4 188 0 0 1 0 0 HAS3 3038 broad.mit.edu 37 16 69148721 69148721 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr16:69148721G>A ENST00000306560.1 + 4 1370 c.1214G>A c.(1213-1215)cGc>cAc p.R405H HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.R405H NM_005329.2 NP_005320.2 O00219 HAS3_HUMAN hyaluronan synthase 3 405 carbohydrate metabolic process integral to plasma membrane hyaluronan synthase activity p.R405H(1) cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2) 16 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.0694) TACCGGGGCCGCATCTGGAAC 0.542000 6 619 0 0 1 0 0 GPR176 11245 broad.mit.edu 37 15 40093625 40093625 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr15:40093625G>A ENST00000299092.3 - 4 1451 c.1253C>T c.(1252-1254)gCg>gTg p.A418V GPR176_ENST00000561100.1_Missense_Mutation_p.A419V|GPR176_ENST00000543580.1_Missense_Mutation_p.A374V NM_001271854.1|NM_001271855.1 NP_001258783.1|NP_001258784.1 Q14439 GP176_HUMAN G protein-coupled receptor 176 419 synaptic transmission integral to plasma membrane G-protein coupled receptor activity central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2) 23 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) GGCAGAGGGCGCAAACTGTGG 0.577000 6 824 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54917197 54917197 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr12:54917197C>T ENST00000293373.6 + 19 1977 c.1898C>T c.(1897-1899)gCc>gTc p.A633V NCKAP1L_ENST00000545638.2_Missense_Mutation_p.A583V NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 633 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 AAGCACTGTGCCACTACAATC 0.473000 6 875 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38639417 38639417 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr3:38639417G>A ENST00000413689.1 - 14 2258 c.2065C>T c.(2065-2067)Cgt>Tgt p.R689C SCN5A_ENST00000425664.1_Missense_Mutation_p.R689C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R689C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R689C|SCN5A_ENST00000333535.4_Missense_Mutation_p.R689C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R689C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R689C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R689C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R689C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R689C NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 689 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TGGGCGAGACGGTTCCAGCAT 0.532000 67 317 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390466 45390466 + Silent SNP A A G TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr6:45390466A>G ENST00000371438.1 + 2 553 c.195A>G c.(193-195)caA>caG p.Q65Q RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 65 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcagcaacagcagcagc 0.731000 5 162 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42005520 42005520 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr7:42005520G>A ENST00000395925.3 - 15 3235 c.3151C>T c.(3151-3153)Cgg>Tgg p.R1051W GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 1051 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 CCCTCGGGCCGCGTGTAATTC 0.662000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 71 223 0 0 1 0 0 PREX1 57580 broad.mit.edu 37 20 47247332 47247332 + Splice_Site SNP C C A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr20:47247332C>A ENST00000396220.1 - 35 4653 c.4630_splice c.e35-1 p.G1544_splice PREX1_ENST00000371941.3_Splice_Site_p.R1509_splice Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 0 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GGTAAAATGCCCTGCGAGAGA 0.622000 70 227 1.48005e-37 1.60534e-37 1 1 0 ANKRD34A 284615 broad.mit.edu 37 1 145474624 145474624 + Silent SNP C C A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:145474624C>A ENST00000323397.4 + 4 2589 c.1296C>A c.(1294-1296)ccC>ccA p.P432P NM_001039888.2 NP_001034977.1 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34A 432 Pro-rich. endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 20 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ACGTCAGTCCCCACCCTCCCA 0.687000 4 207 0.150653 0.152891 1 1 0 SLC46A3 283537 broad.mit.edu 37 13 29284936 29284936 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr13:29284936G>A ENST00000266943.6 - 4 1474 c.1105C>T c.(1105-1107)Cgg>Tgg p.R369W SLC46A3_ENST00000380814.4_Missense_Mutation_p.R369W NM_001135919.1|NM_181785.3 NP_001129391.1|NP_861450.1 Q7Z3Q1 S46A3_HUMAN solute carrier family 46, member 3 369 transmembrane transport integral to membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1) 15 Lung SC(185;0.0367) all cancers(112;0.159) AACATGGACCGTAGAACAGAG 0.398000 5 417 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 9 226 0 0 1 0 0 CYTH4 27128 broad.mit.edu 37 22 37707094 37707094 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr22:37707094G>A ENST00000248901.6 + 10 1061 c.874G>A c.(874-876)Gag>Aag p.E292K NM_013385.3 NP_037517.1 Q9UIA0 CYH4_HUMAN cytohesin 4 292 PH. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1) 15 CTACTACTTCGAGTTCACCAC 0.612000 140 460 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810766 7810766 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr19:7810766C>T ENST00000315599.7 - 4 408 c.386G>A c.(385-387)cGg>cAg p.R129Q CD209_ENST00000602261.1_Missense_Mutation_p.R129Q|CD209_ENST00000593821.1_Missense_Mutation_p.R85Q|CD209_ENST00000394173.4_Intron|CD209_ENST00000593660.1_Missense_Mutation_p.R105Q|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129Q|CD209_ENST00000315591.8_Missense_Mutation_p.R105Q|CD209_ENST00000601951.1_Missense_Mutation_p.R105Q|CD209_ENST00000301357.8_Missense_Mutation_p.R85Q|CD209_ENST00000204801.8_Missense_Mutation_p.R85Q|CD209_ENST00000601256.1_Missense_Mutation_p.R105Q NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 129 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 AGCCTTCAGCCGGGTCAGCTC 0.567000 7 982 0 0 1 0 0 RIMS1 0 broad.mit.edu 37 6 73102486 73102486 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr6:73102486G>A ENST00000264839.7 + 27 4139 c.4139G>A c.(4138-4140)cGc>cAc p.R1380H RIMS1_ENST00000348717.5_Missense_Mutation_p.R1314H|RIMS1_ENST00000517827.1_Missense_Mutation_p.R665H|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000414192.2_Missense_Mutation_p.R58H|RIMS1_ENST00000538414.1_Missense_Mutation_p.R337H|RIMS1_ENST00000523963.1_Missense_Mutation_p.R656H|RIMS1_ENST00000491071.2_Missense_Mutation_p.R1354H|RIMS1_ENST00000522291.1_Missense_Mutation_p.R1130H|RIMS1_ENST00000425662.2_Missense_Mutation_p.R599H|RIMS1_ENST00000521978.1_Missense_Mutation_p.R1531H|RIMS1_ENST00000401910.3_Missense_Mutation_p.R851H|RIMS1_ENST00000520567.1_Missense_Mutation_p.R1181H|RIMS1_ENST00000518273.1_Missense_Mutation_p.R1210H|RIMS1_ENST00000517960.1_Missense_Mutation_p.R1314H Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1531 Ser-rich. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) CTTGTTGGCCGCCAAACCCTT 0.388000 5 309 0 0 1 0 0 DPY19L2P2 0 broad.mit.edu 37 7 102825947 102825947 + RNA SNP A A G TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr7:102825947A>G ENST00000312132.4 - 0 3750 ACAGCTTGACACTTGCCATTG 0.373000 6 319 0 0 1 0 0 USP43 124739 broad.mit.edu 37 17 9631939 9631939 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr17:9631939G>A ENST00000570827.2 + 15 3145 c.2071G>A c.(2071-2073)Gtg>Atg p.V691M USP43_ENST00000285199.6_Missense_Mutation_p.V1002M|USP43_ENST00000570475.1_Missense_Mutation_p.V997M Q70EL4 UBP43_HUMAN ubiquitin specific peptidase 43 1002 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 TCTGAGGTCCGTGTTTCGGAA 0.602000 4 195 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162670 90162670 + RNA SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr16:90162670G>A ENST00000564451.1 + 0 2023 ATGTGTCACTGTGCGCTTGTT 0.448000 5 535 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40902612 40902612 + Silent SNP C C G TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr19:40902612C>G ENST00000324001.7 - 7 1917 c.1647G>C c.(1645-1647)ccG>ccC p.P549P PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 549 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding p.P549P(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CTGACACTTTCGGCAGCTGTA 0.577000 14 1075 0 0 1 0 0 DAXX 1616 broad.mit.edu 37 6 33287900 33287900 + Silent SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr6:33287900C>T ENST00000374542.5 - 5 1557 c.1353G>A c.(1351-1353)gaG>gaA p.E451E DAXX_ENST00000414083.2_Silent_p.E376E|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Silent_p.E451E NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 451 Asp/Glu-rich (acidic).|Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding p.E451E(2) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 cttcttcttcctcctcctcct 0.557000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 4 174 0 0 1 0 0 PHYKPL 85007 broad.mit.edu 37 5 177657001 177657001 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:177657001G>A ENST00000308158.5 - 3 512 c.278C>T c.(277-279)gCg>gTg p.A93V PHYKPL_ENST00000476170.2_Missense_Mutation_p.A93V|PHYKPL_ENST00000481811.1_Intron NM_153373.2 NP_699204.1 5-phosphohydroxy-L-lysine phospho-lyase CAGCCTCTGCGCATAGTCCAC 0.582000 5 596 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098863 11098863 + RNA SNP A A G rs75318310 by1000genomes TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr21:11098863A>G ENST00000470054.1 - 0 62 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccagcctccaactcccccttc 0.627000 6 168 0 0 1 0 0 DNMT3A 1788 broad.mit.edu 37 2 25471001 25471001 + Missense_Mutation SNP C C T rs146110707 by1000genomes TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr2:25471001C>T ENST00000264709.3 - 7 1097 c.760G>A c.(760-762)Gca>Aca p.A254T DNMT3A_ENST00000402667.1_Missense_Mutation_p.A31T|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A254T|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A65T NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 254 Interaction with DNMT1 and DNMT3B. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGGGGGATGCGGGGTCAGTG 0.627000 """Mis, F, N, S""" AML 8 503 0 0 1 0 0 UQCRH 7388 broad.mit.edu 37 1 46775912 46775912 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:46775912G>A ENST00000311672.5 + 3 303 c.167G>A c.(166-168)cGt>cAt p.R56H NM_001089591.1|NM_006004.2 NP_001083060.1|NP_005995.2 P07919 QCR6_HUMAN ubiquinol-cytochrome c reductase hinge protein 56 aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c ubiquinol-cytochrome-c reductase activity large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 4 Acute lymphoblastic leukemia(166;0.155) TGTGATGAGCGTGTATCCTCT 0.512000 6 554 0 0 1 0 0 WDR44 54521 broad.mit.edu 37 X 117527019 117527019 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chrX:117527019C>T ENST00000254029.3 + 4 1006 c.611C>T c.(610-612)gCc>gTc p.A204V WDR44_ENST00000371822.5_Missense_Mutation_p.A179V|WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Missense_Mutation_p.A204V NM_019045.4 NP_061918.3 Q5JSH3 WDR44_HUMAN WD repeat domain 44 204 cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm p.A204G(2) breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 33 AAAGATTTTGCCGCTGTGGAA 0.488000 5 415 0 0 1 0 0 PRDM7 11105 broad.mit.edu 37 16 90126823 90126823 + Missense_Mutation SNP T T G TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr16:90126823T>G ENST00000449207.2 - 9 1178 c.1159A>C c.(1159-1161)Atg>Ctg p.M387L PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron NM_001098173.1 NP_001091643.1 Q9NQW5 PRDM7_HUMAN PR domain containing 7 387 chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTCATCCCCATACCAGACCAG 0.522000 5 386 0 0 1 0 0 HIST1H2BK 85236 broad.mit.edu 37 6 27114417 27114417 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr6:27114417C>T ENST00000396891.4 - 1 202 c.161G>A c.(160-162)gGc>gAc p.G54D HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.G54D NM_080593.2 NP_542160.1 O60814 H2B1K_HUMAN histone cluster 1, H2bk 54 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 AGAGGAGATGCCGGTGTCGGG 0.582000 7 881 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62839353 62839353 + Silent SNP A A G TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr20:62839353A>G ENST00000536311.1 + 7 1168 c.804A>G c.(802-804)gaA>gaG p.E268E MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E268E Q01538 MYT1_HUMAN myelin transcription factor 1 268 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E268E(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) aggaggaggaagaggaggagg 0.572000 6 88 0 0 1 0 0 TLR1 7096 broad.mit.edu 37 4 38799732 38799732 + Nonsense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr4:38799732G>A ENST00000308979.2 - 4 994 c.721C>T c.(721-723)Caa>Taa p.Q241* TLR1_ENST00000502213.2_Nonsense_Mutation_p.Q241* NM_003263.3 NP_003254.2 Q15399 TLR1_HUMAN toll-like receptor 1 241 cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex protein heterodimerization activity|transmembrane receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2) 28 GGATTTGTTTGAAGTTTCGCC 0.348000 48 164 0 0 1 0 0 OXNAD1 92106 broad.mit.edu 37 3 16312479 16312479 + Missense_Mutation SNP T T G TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr3:16312479T>G ENST00000285083.5 + 3 485 c.20T>G c.(19-21)aTg>aGg p.M7R OXNAD1_ENST00000605932.1_Missense_Mutation_p.M7R|OXNAD1_ENST00000606098.1_Missense_Mutation_p.M7R|OXNAD1_ENST00000544043.1_Missense_Mutation_p.M25R|OXNAD1_ENST00000435829.2_Missense_Mutation_p.M25R NM_138381.3 NP_612390.1 Q96HP4 OXND1_HUMAN oxidoreductase NAD-binding domain containing 1 7 oxidoreductase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2) 13 GCTGCTGTTATGATTCCTGGG 0.458000 155 586 0 0 1 0 0 TJP2 9414 broad.mit.edu 37 9 71866162 71866162 + Missense_Mutation SNP G G C TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr9:71866162G>C ENST00000377245.4 + 21 3411 c.3203G>C c.(3202-3204)aGt>aCt p.S1068T TJP2_ENST00000535702.1_Missense_Mutation_p.S1035T|TJP2_ENST00000539225.1_Missense_Mutation_p.S1099T|TJP2_ENST00000453658.2_Intron|TJP2_ENST00000348208.4_Intron NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 1068 cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 GGAGAGAGCAGTGAGGAGCAA 0.512000 4 294 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr12:25398285C>G ENST00000311936.3 - 2 225 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 19 93 0 0 1 0 0 HPX 3263 broad.mit.edu 37 11 6452915 6452915 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr11:6452915G>A ENST00000265983.3 - 9 1185 c.1085C>T c.(1084-1086)gCg>gTg p.A362V NM_000613.2 NP_000604.1 P02790 HEMO_HUMAN hemopexin 362 cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(11)|prostate(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) GATAAAGGCCGCATCCACAGA 0.557000 5 523 0 0 1 0 0 KRTAP3-1 83896 broad.mit.edu 37 17 39165249 39165249 + Silent SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr17:39165249G>A ENST00000391588.1 - 1 117 c.78C>T c.(76-78)tgC>tgT p.C26C KRTAP3-1_ENST00000581033.1_5'UTR NM_031958.1 NP_114164.1 Q9BYR8 KRA31_HUMAN keratin associated protein 3-1 26 4 X 5 AA repeats of C-C-X(3). keratin filament structural molecule activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 8 Breast(137;0.00043) CTCCACAGCGGCAGCTTTTAT 0.592000 5 538 0 0 1 0 0 JPH3 57338 broad.mit.edu 37 16 87636931 87636931 + Missense_Mutation SNP C C A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr16:87636931C>A ENST00000284262.2 + 1 421 c.179C>A c.(178-180)aCg>aAg p.T60K NM_020655.2 NP_065706.2 Q8WXH2 JPH3_HUMAN junctophilin 3 60 Gly-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) AGCGGCAACACGTACCAGGGC 0.677000 5 162 1.024e-07 1.09906e-07 1 1 0 FGFR4 2264 broad.mit.edu 37 5 176520430 176520430 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:176520430C>T ENST00000393648.2 + 10 1303 c.1121C>T c.(1120-1122)cCg>cTg p.P374L FGFR4_ENST00000393637.1_Silent_p.S385S|FGFR4_ENST00000292410.3_Silent_p.S385S|FGFR4_ENST00000502906.1_Silent_p.S425S|FGFR4_ENST00000292408.4_Silent_p.S425S P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 0 insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) 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) Palifermin(DB00039) CAGGCTCTTCCGGCAAGTCAA 0.622000 TSP Lung(9;0.080) 130 533 0 0 1 0 0 EFHD1 80303 broad.mit.edu 37 2 233546356 233546356 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr2:233546356G>A ENST00000264059.3 + 4 1124 c.647G>A c.(646-648)cGg>cAg p.R216Q EFHD1_ENST00000409613.1_Missense_Mutation_p.R120Q|EFHD1_ENST00000410095.1_Missense_Mutation_p.R104Q|EFHD1_ENST00000409708.1_Missense_Mutation_p.R104Q NM_025202.3 NP_079478.1 Q9BUP0 EFHD1_HUMAN EF-hand domain family, member D1 216 calcium ion binding|protein binding NS(1)|breast(1)|large_intestine(2)|lung(3) 7 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025) Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101) CAAGATGAGCGGAAGCGGGAG 0.542000 5 554 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62843476 62843476 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr20:62843476G>A ENST00000536311.1 + 9 1866 c.1502G>A c.(1501-1503)cGc>cAc p.R501H MYT1_ENST00000360149.4_Missense_Mutation_p.R203H|MYT1_ENST00000328439.1_Missense_Mutation_p.R501H Q01538 MYT1_HUMAN myelin transcription factor 1 501 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R501H(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) AACAGCAACCGCAACACGCAC 0.662000 6 715 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 7 515 0 0 1 0 0 IP6K3 117283 broad.mit.edu 37 6 33690692 33690692 + Silent SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr6:33690692G>A ENST00000451316.1 - 7 1573 c.1038C>T c.(1036-1038)caC>caT p.H346H IP6K3_ENST00000293756.4_Silent_p.H346H NM_001142883.1 NP_001136355.1 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 346 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 GGGGAGCCTCGTGAGGATGCG 0.557000 5 379 0 0 1 0 0 AGO1 26523 broad.mit.edu 37 1 36359375 36359375 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:36359375C>T ENST00000373204.4 + 5 826 c.613C>T c.(613-615)Cgc>Tgc p.R205C AGO1_ENST00000373206.1_Missense_Mutation_p.R130C NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 CCAGTCTGTGCGCCCTGCCAT 0.622000 5 330 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62839350 62839350 + Silent SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr20:62839350G>A ENST00000536311.1 + 7 1165 c.801G>A c.(799-801)gaG>gaA p.E267E MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E267E Q01538 MYT1_HUMAN myelin transcription factor 1 267 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) aggaggaggaggaagaggagg 0.577000 5 88 0 0 1 0 0 FAM86DP 0 broad.mit.edu 37 3 75475709 75475709 + RNA SNP T T C TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr3:75475709T>C ENST00000459803.1 - 0 820 NR_024241.1 p.I261V(1) CTCCGCAGGATCCCGACCAGC 0.562000 5 121 0 0 1 0 0 MC3R 4159 broad.mit.edu 37 20 54824819 54824819 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr20:54824819G>A ENST00000243911.2 + 1 1032 c.920G>A c.(919-921)cGc>cAc p.R307H NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 344 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) CTGGAATTGCGCAACACCTTT 0.517000 7 809 0 0 1 0 0 PKD2L1 9033 broad.mit.edu 37 10 102056026 102056026 + Silent SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr10:102056026G>A ENST00000318222.3 - 7 1591 c.1209C>T c.(1207-1209)ttC>ttT p.F403F PKD2L1_ENST00000338519.3_Silent_p.F328F|PKD2L1_ENST00000353274.3_Silent_p.F403F NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 403 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) GGAATATGTGGAAGCCCACAG 0.567000 51 189 0 0 1 0 0 SOHLH2 54937 broad.mit.edu 37 13 36744911 36744911 + Silent SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr13:36744911G>A ENST00000379881.3 - 10 1102 c.1014C>T c.(1012-1014)tcC>tcT p.S338S SOHLH2_ENST00000554962.1_Silent_p.S415S|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.S415S NM_017826.2 NP_060296.2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273) TCTCTGAGGCGGAGCTTGATG 0.388000 6 429 0 0 1 0 0 ZFYVE1 53349 broad.mit.edu 37 14 73465019 73465019 + Missense_Mutation SNP G G T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr14:73465019G>T ENST00000556143.1 - 3 1208 c.488C>A c.(487-489)aCa>aAa p.T163K ZFYVE1_ENST00000553891.1_Missense_Mutation_p.T163K|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.T163K NM_021260.2 NP_067083.1 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 163 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding p.T163K(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1) 35 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) TTCTTCATTTGTTACCTGCAA 0.353000 13 148 9.22233e-05 9.6458e-05 1 1 0 SCRIB 23513 broad.mit.edu 37 8 144896264 144896264 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr8:144896264G>A ENST00000356994.2 - 2 190 c.184C>T c.(184-186)Cgc>Tgc p.R62C SCRIB_ENST00000377533.3_5'UTR|SCRIB_ENST00000320476.3_Missense_Mutation_p.R62C NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 62 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CCCAGCTTGCGCAAGTTCAGC 0.617000 8 26 0 0 1 0 0 TERT 0 broad.mit.edu 37 5 1260644 1260644 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:1260644C>T ENST00000310581.5 - 12 2972 c.2915G>A c.(2914-2916)cGc>cAc p.R972H TERT_ENST00000334602.6_Missense_Mutation_p.R909H|TERT_ENST00000296820.5_3'UTR NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 972 CTE. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) AAAGAGTTTGCGACGCATGTT 0.562000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 5 413 0 0 1 0 0 CYP2D7P1 0 broad.mit.edu 37 22 42538870 42538870 + RNA SNP A A C rs2982057 by1000genomes TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr22:42538870A>C ENST00000358097.4 - 0 449 CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA endometrium(1) 1 CCATAGCGCGACAGGAACACC 0.687000 8 199 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274343 39274343 + Silent SNP A A G TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr17:39274343A>G ENST00000391413.2 - 1 263 c.225T>C c.(223-225)tgT>tgC p.C75C NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 75 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCTGGGGCGACAGCAGCTGG 0.657000 6 383 0 0 1 0 0 RLIM 51132 broad.mit.edu 37 X 73811938 73811938 + Silent SNP G G C rs61754468 by1000genomes TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chrX:73811938G>C ENST00000332687.6 - 4 1430 c.1212C>G c.(1210-1212)acC>acG p.T404T RLIM_ENST00000349225.2_Silent_p.T404T NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 404 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding p.T404T(6) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GCCTTAACATGGTCTGAATTG 0.413000 9 249 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45658329 45658329 + Missense_Mutation SNP G G T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr14:45658329G>T ENST00000267430.5 + 20 5189 c.5104G>T c.(5104-5106)Gac>Tac p.D1702Y FANCM_ENST00000542564.2_Missense_Mutation_p.D1676Y NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1702 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 CAAACAACAGGACCATTGTTT 0.398000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 122 532 8.88823e-52 9.69196e-52 1 1 0 MST1 4485 broad.mit.edu 37 3 49723596 49723596 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr3:49723596G>A ENST00000449682.2 - 9 1407 c.1046C>T c.(1045-1047)cCc>cTc p.P349L MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 335 Kringle 3. proteolysis extracellular region serine-type endopeptidase activity p.P335L(5) NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TGAGCCGTCGGGGTTCCGGCA 0.667000 7 188 0 0 1 0 0 SEC63 11231 broad.mit.edu 37 6 108214765 108214765 + Nonsense_Mutation SNP A A T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr6:108214765A>T ENST00000369002.4 - 16 1774 c.1595T>A c.(1594-1596)tTa>tAa p.L532* NM_007214.4 NP_009145.1 Q9UGP8 SEC63_HUMAN SEC63 homolog (S. cerevisiae) 532 SEC63 1. protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding p.L532*(2) endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) TTTTTTTTTTAAAGGTTTCTT 0.368000 7 425 0 0 1 0 0 KRTAP5-8 57830 broad.mit.edu 37 11 71249558 71249558 + Missense_Mutation SNP T T A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr11:71249558T>A ENST00000398534.3 + 1 488 c.457T>A c.(457-459)Tgc>Agc p.C153S NM_021046.2 NP_066384.2 O75690 KRA58_HUMAN keratin associated protein 5-8 153 9 X 4 AA repeats of C-C-X-P. extracellular region|keratin filament structural constituent of epidermis cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1) 6 TAAGCCCTGCTGCTGCTCTTC 0.602000 8 1435 0 0 1 0 0 PCDHB10 0 broad.mit.edu 37 5 140573626 140573626 + Missense_Mutation SNP G G A rs139403329 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:140573626G>A ENST00000239446.4 + 1 1685 c.1501G>A c.(1501-1503)Gcc>Acc p.A501T NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 501 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTGCCCCTCGCCTCCCTGGT 0.682000 8 1073 0 0 1 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7682439 7682439 + Silent SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr19:7682439G>A ENST00000446248.2 + 18 3518 c.3417G>A c.(3415-3417)ctG>ctA p.L1139L CAMSAP3_ENST00000160298.4_Silent_p.L1112L NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 1112 CKK. epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 GTCCACGGCTGTACAAAGAAC 0.597000 5 264 0 0 1 0 0 MYO1D 4642 broad.mit.edu 37 17 31082528 31082528 + Silent SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr17:31082528G>A ENST00000318217.5 - 11 1753 c.1449C>T c.(1447-1449)gcC>gcT p.A483A MYO1D_ENST00000579584.1_Silent_p.A483A|MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000394649.4_Silent_p.A395A NM_015194.1 NP_056009.1 O94832 MYO1D_HUMAN myosin ID 483 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(9;0.0362) TGGAAAAATGGGCGTGTTTGC 0.393000 15 397 0 0 1 0 0 ATG9A 79065 broad.mit.edu 37 2 220089227 220089227 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr2:220089227C>T ENST00000409618.1 - 8 1305 c.866G>A c.(865-867)cGc>cAc p.R289H ATG9A_ENST00000361242.4_Missense_Mutation_p.R289H|ATG9A_ENST00000396761.2_Missense_Mutation_p.R289H|ATG9A_ENST00000409422.1_Missense_Mutation_p.R228H Q7Z3C6 ATG9A_HUMAN autophagy related 9A 289 autophagic vacuole assembly|protein transport autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1) 13 Renal(207;0.0474) Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCACAGGATGCGGTTGCTGAG 0.567000 32 118 0 0 1 0 0 UTP20 27340 broad.mit.edu 37 12 101760468 101760468 + Silent SNP C C T rs112368779 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr12:101760468C>T ENST00000261637.4 + 47 6432 c.6258C>T c.(6256-6258)tcC>tcT p.S2086S NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 2086 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 TTATTGAGTCCGGGCTTCGGG 0.458000 14 514 0 0 1 0 0 PADI3 51702 broad.mit.edu 37 1 17593248 17593248 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:17593248G>A ENST00000375460.3 + 5 483 c.443G>A c.(442-444)gGc>gAc p.G148D NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 148 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GGGTATGGCGGCATCTTGCTG 0.597000 5 475 0 0 1 0 0 ZFP57 346171 broad.mit.edu 37 6 29641221 29641221 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr6:29641221G>A ENST00000376883.1 - 6 1018 c.607C>T c.(607-609)Cgc>Tgc p.R203C ZFP57_ENST00000376881.3_Missense_Mutation_p.R203C|ZFP57_ENST00000488757.1_Missense_Mutation_p.R223C Q9NU63 ZFP57_HUMAN ZFP57 zinc finger protein 139 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 AGATGCATGCGTCTGTGATAG 0.537000 80 245 0 0 1 0 0 DPY19L2P2 0 broad.mit.edu 37 7 102825946 102825946 + RNA SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr7:102825946C>T ENST00000312132.4 - 0 3751 GACAGCTTGACACTTGCCATT 0.373000 6 325 0 0 1 0 0 PATZ1 23598 broad.mit.edu 37 22 31740473 31740473 + Silent SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr22:31740473C>T ENST00000266269.5 - 1 1745 c.1116G>A c.(1114-1116)cgG>cgA p.R372R PATZ1_ENST00000351933.4_Silent_p.R372R|PATZ1_ENST00000405309.3_Silent_p.R372R|PATZ1_ENST00000215919.3_Silent_p.R372R NM_014323.2 NP_055138.2 Q9HBE1 PATZ1_HUMAN POZ (BTB) and AT hook containing zinc finger 1 372 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R372R(2) EWSR1/PATZ1(2) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2) 12 ACAGCTTGTGCCGGTTAAGAT 0.582000 7 576 0 0 1 0 0 NBPF22P 0 broad.mit.edu 37 5 85592175 85592175 + RNA SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:85592175C>T ENST00000590707.1 + 0 1474 NR_003719.2 ACAACTAAAACGCAAAGCAAG 0.403000 14 67 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730847 21730847 + Missense_Mutation SNP G G T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr17:21730847G>T ENST00000584755.1 + 2 546 c.149G>T c.(148-150)cGg>cTg p.R50L UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GGCAAGCAGCGGGAAGATGGC 0.522000 5 244 1.23904e-05 1.30929e-05 1 1 0 MUC7 4589 broad.mit.edu 37 4 71347033 71347033 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr4:71347033C>T ENST00000413702.1 + 4 860 c.572C>T c.(571-573)gCc>gTc p.A191V MUC7_ENST00000304887.5_Missense_Mutation_p.A191V|MUC7_ENST00000456088.1_Missense_Mutation_p.A191V NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 191 Thr-rich. extracellular region protein binding p.A191V(1) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCACAGCTGCCCCACCCACA 0.587000 12 905 0 0 1 0 0 KBTBD6 89890 broad.mit.edu 37 13 41705440 41705440 + Missense_Mutation SNP G G T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr13:41705440G>T ENST00000379485.1 - 1 1442 c.1208C>A c.(1207-1209)aCa>aAa p.T403K KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 403 protein binding p.T403K(7) NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) CCAGAGGTCTGTCCTGGGCTG 0.507000 6 651 0.00116845 0.00120367 1 1 0 ZNF878 729747 broad.mit.edu 37 19 12155673 12155673 + Missense_Mutation SNP A A C TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr19:12155673A>C ENST00000602107.1 - 5 683 c.684T>G c.(682-684)agT>agG p.S228R CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron C9JN71 ZN878_HUMAN zinc finger protein 878 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AACTGGGAAAACTGAATGCTT 0.403000 6 955 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 23 448 0 0 1 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44805162 44805162 + Missense_Mutation SNP C C G TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr7:44805162C>G ENST00000309315.4 + 16 2349 c.2226C>G c.(2224-2226)agC>agG p.S742R ZMIZ2_ENST00000265346.7_Missense_Mutation_p.S716R|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.S742R|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.S710R|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.S684R NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 742 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CTGCCCCCAGCGACTACCCTG 0.657000 20 100 0 0 1 0 0 C14orf93 60686 broad.mit.edu 37 14 23467783 23467783 + Silent SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr14:23467783G>A ENST00000299088.6 - 2 879 c.450C>T c.(448-450)agC>agT p.S150S C14orf93_ENST00000397379.3_Silent_p.S150S|C14orf93_ENST00000406429.2_Silent_p.S150S|C14orf93_ENST00000397377.1_5'UTR|C14orf93_ENST00000397382.4_Silent_p.S150S|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000341470.4_Silent_p.S150S NM_001130708.1|NM_021944.2 NP_001124180.1|NP_068763.2 Q9H972 CN093_HUMAN chromosome 14 open reading frame 93 150 extracellular region kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 17 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.0127) CCTGCACGCCGCTGCCCACGC 0.637000 5 212 0 0 1 0 0 SLC6A18 348932 broad.mit.edu 37 5 1244416 1244416 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:1244416C>T ENST00000324642.3 + 10 1547 c.1424C>T c.(1423-1425)gCc>gTc p.A475V SLC6A18_ENST00000296821.4_Missense_Mutation_p.A373V NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 475 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GACAATTTTGCCGCTTCCCCG 0.582000 6 675 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 5 209 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156589868 156589868 + Missense_Mutation SNP C C T rs138175460 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:156589868C>T ENST00000302938.4 - 2 1503 c.1408G>A c.(1408-1410)Gca>Aca p.A470T NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 470 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGGCCAGATGCGGACCGGTGG 0.532000 6 729 0 0 1 0 0 WDR90 197335 broad.mit.edu 37 16 711075 711075 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr16:711075G>A ENST00000549091.1 + 29 3508 c.3416G>A c.(3415-3417)cGc>cAc p.R1139H WDR90_ENST00000293879.4_Missense_Mutation_p.R1139H NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 1139 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) ACGTGCGGCCGCCTGGTGGTG 0.746000 3 47 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274274 39274274 + Silent SNP A A G TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr17:39274274A>G ENST00000391413.2 - 1 332 c.294T>C c.(292-294)acT>acC p.T98T NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 98 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.C99fs*>97(1)|p.T98T(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ggcggcagcaAGTGGGCTGGC 0.657000 4 230 0 0 1 0 0 ZNF732 654254 broad.mit.edu 37 4 265272 265272 + Silent SNP A A G TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr4:265272A>G ENST00000419098.1 - 4 1384 c.1374T>C c.(1372-1374)tcT>tcC p.S458S NM_001137608.1 NP_001131080.1 B4DXR9 ZN732_HUMAN zinc finger protein 732 458 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(2) 3 TCAGGTATGCAGACCATCCAA 0.393000 4 57 0 0 1 0 0 MMP26 56547 broad.mit.edu 37 11 5009493 5009493 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr11:5009493G>A ENST00000380390.1 + 2 268 c.52G>A c.(52-54)Gtt>Att p.V18I MMP26_ENST00000300762.1_Missense_Mutation_p.V18I|MMP26_ENST00000477339.1_Intron Q9NRE1 MMP26_HUMAN matrix metallopeptidase 26 18 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1) 22 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) GTGTTTCGCCGTTCCAGTGCC 0.493000 7 683 0 0 1 0 0 B4GALNT3 283358 broad.mit.edu 37 12 667679 667679 + Silent SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr12:667679G>A ENST00000266383.5 + 18 2626 c.2613G>A c.(2611-2613)ccG>ccA p.P871P NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 871 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) CCCAGGACCCGCACAGCATCA 0.587000 6 900 0 0 1 0 0 NUFIP2 57532 broad.mit.edu 37 17 27620945 27620945 + Missense_Mutation SNP G G T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr17:27620945G>T ENST00000225388.4 - 1 191 c.133C>A c.(133-135)Cac>Aac p.H45N NUFIP2_ENST00000579665.1_Missense_Mutation_p.H45N NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 45 His-rich. nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) tggtggtggtggttgtggctg 0.587000 6 748 0.217242 0.219383 1 1 0 IL18RAP 8807 broad.mit.edu 37 2 103068507 103068507 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr2:103068507C>T ENST00000264260.2 + 12 2255 c.1666C>T c.(1666-1668)Cgc>Tgc p.R556C IL18RAP_ENST00000409369.1_Missense_Mutation_p.R414C NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 556 TIR. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 GGCCAAAATGCGCTACCACAT 0.453000 8 759 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153907309 153907309 + Silent SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:153907309C>T ENST00000361217.4 - 18 3118 c.2700G>A c.(2698-2700)caG>caA p.Q900Q NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 900 Gln-rich. p.Q788Q(1)|p.Q900Q(1) NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gctgctgttgctgctgctgct 0.642000 6 437 0 0 1 0 0 GMPPA 29926 broad.mit.edu 37 2 220366590 220366590 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr2:220366590C>T ENST00000358215.3 + 5 629 c.260C>T c.(259-261)gCc>gTc p.A87V GMPPA_ENST00000313597.5_Missense_Mutation_p.A87V|GMPPA_ENST00000341142.3_Missense_Mutation_p.A87V|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373917.3_Missense_Mutation_p.A87V|GMPPA_ENST00000373908.1_Missense_Mutation_p.A87V NM_205847.2 NP_995319.1 Q96IJ6 GMPPA_HUMAN GDP-mannose pyrophosphorylase A 87 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 Renal(207;0.0183) Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148) CAGGAATTTGCCCCCCTAGGC 0.592000 6 381 0 0 1 0 0 SPRYD3 84926 broad.mit.edu 37 12 53462066 53462066 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr12:53462066C>T ENST00000301463.4 - 7 802 c.716G>A c.(715-717)gGc>gAc p.G239D SPRYD3_ENST00000547837.1_Missense_Mutation_p.G276D NM_032840.2 NP_116229.1 Q8NCJ5 SPRY3_HUMAN SPRY domain containing 3 239 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 GATGCTTTTGCCCTTCCCTAA 0.637000 6 857 0 0 1 0 0 STK38 11329 broad.mit.edu 37 6 36489591 36489591 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr6:36489591G>A ENST00000229812.7 - 5 595 c.310C>T c.(310-312)Cgg>Tgg p.R104W NM_007271.2 NP_009202.1 Q15208 STK38_HUMAN serine/threonine kinase 38 104 Protein kinase. intracellular protein kinase cascade|negative regulation of MAP kinase activity cytoplasm|MLL5-L complex ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGAACAAGCCGTACCTAAAAA 0.353000 5 303 0 0 1 0 0 MSH3 4437 broad.mit.edu 37 5 79974874 79974874 + Silent SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:79974874G>A ENST00000265081.6 + 8 1382 c.1302G>A c.(1300-1302)gaG>gaA p.E434E NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 434 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) CCTTGTCCGAGCAAACAGAGG 0.478000 Mismatch excision repair (MMR) 7 870 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56490816 56490816 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr19:56490816G>A ENST00000291971.3 + 9 3004 c.2933G>A c.(2932-2934)cGc>cAc p.R978H NLRP8_ENST00000590542.1_Missense_Mutation_p.R959H NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 978 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TCCATGCTCCGCAAAAACCAA 0.498000 5 456 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6719298 6719298 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr19:6719298C>T ENST00000245907.6 - 2 283 c.191G>A c.(190-192)gGc>gAc p.G64D NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 64 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TAGTTTTTTGCCTGGGAAGTC 0.592000 6 687 0 0 1 0 0 PTPN23 25930 broad.mit.edu 37 3 47452686 47452686 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr3:47452686C>T ENST00000265562.4 + 20 3475 c.3398C>T c.(3397-3399)tCt>tTt p.S1133F PTPN23_ENST00000431726.1_Missense_Mutation_p.S1007F NM_015466.2 NP_056281.1 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 23 1133 cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGCACTCAGTCTCCTGGGGGT 0.711000 23 80 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158605758 158605758 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:158605758G>A ENST00000368148.3 - 38 5557 c.5377C>T c.(5377-5379)Cgg>Tgg p.R1793W SPTA1_ENST00000368147.3_Missense_Mutation_p.R1793W NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1793 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TGAGCCAGCCGCAACTGGATC 0.522000 6 882 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21974679 21974679 + Nonsense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr9:21974679G>A ENST00000304494.5 - 1 418 c.148C>T c.(148-150)Cag>Tag p.Q50* CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.Q50*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000498628.2_Intron NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 50 Q -> R (in CMM2). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(25)|p.Q50*(4)|p.0(1)|p.V28_V51del(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CTACCCACCTGGATCGGCCTC 0.682000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 226 656 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102482730 102482730 + Silent SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr14:102482730C>T ENST00000360184.4 + 37 7682 c.7518C>T c.(7516-7518)agC>agT p.S2506S NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 2506 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 CTGGAGACAGCCGGCTAAAAA 0.418000 5 351 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625905 29625905 + Missense_Mutation SNP T T C rs137871677 by1000genomes TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr20:29625905T>C ENST00000278882.3 + 5 529 c.149T>C c.(148-150)cTt>cCt p.L50P FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P|FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P p.L50P(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGAAAATATCTTGGTATAAAT 0.333000 13 584 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994960 140994960 + Silent SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chrX:140994960G>A ENST00000285879.4 + 4 2056 c.1770G>A c.(1768-1770)ctG>ctA p.L590L MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 590 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AGGACTCCCTGTCTCCTCACT 0.567000 HNSCC(15;0.026) 11 1168 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 4 56 1.23904e-05 1.30929e-05 1 1 0 TRIM48 79097 broad.mit.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr11:55035844T>C ENST00000417545.2 + 4 660 c.574T>C c.(574-576)Tac>Cac p.Y192H NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 176 intracellular zinc ion binding p.Y192H(11)|p.Y176H(11) endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 AGACATATTATACAGGTGAGT 0.338000 7 382 0 0 1 0 0 CYP1A2 1544 broad.mit.edu 37 15 75043540 75043540 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr15:75043540G>A ENST00000343932.4 + 3 905 c.842G>A c.(841-843)cGg>cAg p.R281Q NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 281 R -> W (in dbSNP:rs45468096). alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) AACAGTGTCCGGGACATCACG 0.577000 7 302 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276075 186276075 + Silent SNP T T C TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:186276075T>C ENST00000445192.2 + 7 1269 c.1224T>C c.(1222-1224)acT>acC p.T408T PRG4_ENST00000367485.4_Silent_p.T315T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T367T|PRG4_ENST00000367486.3_Silent_p.T365T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 408 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T408T(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACTCCCAAGGAGC 0.662000 25 641 0 0 1 0 0 ENC1 8507 broad.mit.edu 37 5 73931388 73931388 + Missense_Mutation SNP T T A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:73931388T>A ENST00000302351.4 - 2 2053 c.923A>T c.(922-924)gAc>gTc p.D308V ENC1_ENST00000537006.1_Missense_Mutation_p.D308V|ENC1_ENST00000510316.1_Missense_Mutation_p.D235V NM_003633.3 NP_003624.1 O14682 ENC1_HUMAN ectodermal-neural cortex 1 (with BTB domain) 308 nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 20 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) ATACAACTTGTCACACATGAA 0.498000 65 290 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52383089 52383089 + Silent SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr3:52383089C>T ENST00000420323.2 + 13 2553 c.2292C>T c.(2290-2292)tcC>tcT p.S764S NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 764 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) ACATTGCCTCCTTTCTCAAGT 0.577000 52 190 0 0 1 0 0 KIAA0556 23247 broad.mit.edu 37 16 27640032 27640032 + Missense_Mutation SNP A A G TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr16:27640032A>G ENST00000261588.4 + 4 210 c.191A>G c.(190-192)cAc>cGc p.H64R NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 64 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 AGGCTGGAGCACTTGGAGCAA 0.488000 69 697 0 0 1 0 0 ASPRV1 151516 broad.mit.edu 37 2 70187919 70187919 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr2:70187919C>T ENST00000320256.4 - 1 1478 c.902G>A c.(901-903)cGc>cAc p.R301H NM_152792.2 NP_690005.2 Q53RT3 APRV1_HUMAN aspartic peptidase, retroviral-like 1 301 protein maturation by peptide bond cleavage|skin development aspartic-type endopeptidase activity endometrium(3)|large_intestine(4)|lung(6)|ovary(1) 14 GGTGCATGTGCGGTGCTCAAA 0.557000 8 830 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 8 76 0 0 1 0 0 ATP2C2 9914 broad.mit.edu 37 16 84476138 84476138 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr16:84476138C>T ENST00000416219.2 + 15 1423 c.1334C>T c.(1333-1335)gCg>gTg p.A445V ATP2C2_ENST00000262429.4_Missense_Mutation_p.A445V|ATP2C2_ENST00000420010.2_3'UTR O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 445 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 GCCAACAATGCGGTCATCAGA 0.552000 8 1328 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 7 415 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46279860 46279860 + Silent SNP G G A rs151060280 byFrequency TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr20:46279860G>A ENST00000372004.3 + 20 3990 c.3774G>A c.(3772-3774)caG>caA p.Q1258Q NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1262 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.Q1262Q(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcagcaacagc 0.567000 7 311 0 0 1 0 0 OR51A7 119687 broad.mit.edu 37 11 4929119 4929119 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr11:4929119C>T ENST00000359350.4 + 1 520 c.520C>T c.(520-522)Ctt>Ttt p.L174F MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004749.1 NP_001004749.1 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, member 7 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AAAGAATCTTCTTTCTCACTC 0.388000 5 388 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78790148 78790148 + Missense_Mutation SNP G G A rs68105355 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr9:78790148G>A ENST00000376767.3 + 14 2515 c.2003G>A c.(2002-2004)gGa>gAa p.G668E PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 aaatggaatggaatgaaatgg 0.413000 7 101 0 0 1 0 0 ACOT7 11332 broad.mit.edu 37 1 6409894 6409894 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:6409894C>T ENST00000361521.4 - 2 1167 c.176G>A c.(175-177)gGc>gAc p.G59D ACOT7_ENST00000545482.1_Intron|ACOT7_ENST00000377855.2_Missense_Mutation_p.G69D|ACOT7_ENST00000377842.3_Missense_Mutation_p.G18D|ACOT7_ENST00000377845.3_Missense_Mutation_p.G39D|ACOT7_ENST00000541130.1_Missense_Mutation_p.G39D NM_007274.3 NP_009205.3 O00154 BACH_HUMAN acyl-CoA thioesterase 7 69 Acyl coenzyme A hydrolase 1. mitochondrion|nucleus carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1) 16 Ovarian(185;0.0634)|all_lung(157;0.175) all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211) Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481) GTGGACATTGCCGGCCACGTT 0.592000 5 259 0 0 1 0 0 PCDHA8 0 broad.mit.edu 37 5 140221029 140221029 + Silent SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:140221029C>T ENST00000531613.1 + 1 123 c.123C>T c.(121-123)caC>caT p.H41H PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Silent_p.H41H|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGCCAAACACGGCACCTTCG 0.672000 44 398 0 0 1 0 0 PGBD4 161779 broad.mit.edu 37 15 34396066 34396066 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr15:34396066G>A ENST00000397766.2 + 1 1793 c.1334G>A c.(1333-1335)cGc>cAc p.R445H NM_152595.4 NP_689808.2 Q96DM1 PGBD4_HUMAN piggyBac transposable element derived 4 445 breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1) 16 all_lung(180;1.76e-08) all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242) CCATCTGAGCGCAAAAGACAC 0.413000 6 376 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 4 95 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43433639 43433639 + RNA SNP G G T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr19:43433639G>T ENST00000446844.3 - 0 753 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) GCACTCACTGGGTTCCGTATT 0.507000 380 1503 4.73282e-69 5.18838e-69 1 1 0 KCNQ1 3784 broad.mit.edu 37 11 2549217 2549217 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr11:2549217C>T ENST00000155840.5 + 2 554 c.446C>T c.(445-447)gCc>gTc p.A149V KCNQ1_ENST00000335475.5_Missense_Mutation_p.A22V NM_000218.2 NP_000209.2 P51787 KCNQ1_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 1 149 blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2) 21 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) GAGCAGTATGCCGCCCTGGCC 0.612000 5 552 0 0 1 0 0 FOXD3 27022 broad.mit.edu 37 1 63789349 63789349 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:63789349G>A ENST00000371116.2 + 1 620 c.620G>A c.(619-621)gGc>gAc p.G207D RP4-792G4.2_ENST00000427268.1_RNA NM_012183.2 NP_036315.1 Q9UJU5 FOXD3_HUMAN forkhead box D3 207 GNPG -> ATRP (in Ref. 3; AAK13574). axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation transcription factor complex 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 breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1) 5 CGCGAGCCGGGCAACCCGGGC 0.637000 6 804 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625885 29625885 + Missense_Mutation SNP A A T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr20:29625885A>T ENST00000278882.3 + 5 509 c.129A>T c.(127-129)aaA>aaT p.K43N FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N p.K43N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCGCCCTGAAATCTGGCTATG 0.353000 5 549 0 0 1 0 0 HERC2P3 0 broad.mit.edu 37 15 20644850 20644850 + RNA SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr15:20644850G>A ENST00000428453.1 - 0 3097 p.A803V(4) central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CATGTCCCTCGCCCTTTCGGT 0.463000 4 232 0 0 1 0 0 ZNF844 284391 broad.mit.edu 37 19 12187443 12187443 + Missense_Mutation SNP C C G TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr19:12187443C>G ENST00000439326.3 + 4 1683 c.1508C>G c.(1507-1509)cCt>cGt p.P503R ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P503R(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 GAGAGAAACCCTATGAGTGTA 0.413000 6 238 0 0 1 0 0 GNS 2799 broad.mit.edu 37 12 65113959 65113959 + Missense_Mutation SNP A A G TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr12:65113959A>G ENST00000258145.3 - 13 1593 c.1423T>C c.(1423-1425)Ttt>Ctt p.F475L GNS_ENST00000418919.2_Missense_Mutation_p.F419L|GNS_ENST00000542058.1_Missense_Mutation_p.F455L|GNS_ENST00000543646.1_Missense_Mutation_p.F507L NM_002076.3 NP_002067.1 P15586 GNS_HUMAN glucosamine (N-acetyl)-6-sulfatase 475 lysosome metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4) 15 Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12) LUAD - Lung adenocarcinoma(6;0.115) GBM - Glioblastoma multiforme(28;0.0435) ACTTCTACAAACACCTAGAGG 0.408000 165 577 0 0 1 0 0 PRRG3 79057 broad.mit.edu 37 X 150869406 150869406 + Silent SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chrX:150869406G>A ENST00000370353.3 + 4 987 c.597G>A c.(595-597)gcG>gcA p.A199A PRRG3_ENST00000538575.1_Silent_p.A199A Q9BZD7 TMG3_HUMAN proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) 199 extracellular region|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3) 24 Acute lymphoblastic leukemia(192;6.56e-05) AGGTGACTGCGCCCCAAGAGA 0.622000 120 126 0 0 1 0 0 PCDHGA8 0 broad.mit.edu 37 5 140773877 140773877 + Silent SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:140773877G>A ENST00000398604.2 + 1 1497 c.1497G>A c.(1495-1497)gcG>gcA p.A499A PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCAGGGGGCGCCCCTGTCCT 0.562000 46 178 0 0 1 0 0 TRIM67 440730 broad.mit.edu 37 1 231339743 231339743 + Silent SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:231339743C>T ENST00000444294.3 + 6 2517 c.1659C>T c.(1657-1659)gcC>gcT p.A553A TRIM67_ENST00000366653.5_Silent_p.A555A|TRIM67_ENST00000366652.2_Silent_p.A555A|TRIM67_ENST00000449018.3_Silent_p.A493A NM_001004342.3 NP_001004342.3 Q6ZTA4 TRI67_HUMAN tripartite motif containing 67 555 Fibronectin type-III. cytoplasm|cytoskeleton zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) ACGACGGTGCCGGGGGACAGT 0.627000 32 241 0 0 1 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57868253 57868253 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr12:57868253G>A ENST00000393797.2 - 18 2198 c.2006C>T c.(2005-2007)gCg>gTg p.A669V ARHGAP9_ENST00000356411.2_Missense_Mutation_p.A598V|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.A579V|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.A579V|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.A658V|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.A395V Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 598 Rho-GAP. 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) GGAGGTGACCGCACGCTCTGC 0.517000 4 223 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) 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) GAGGGGTGGCGTGACCTGTGG 0.597000 14 15 0 0 1 0 0 LHX2 9355 broad.mit.edu 37 9 126776246 126776246 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr9:126776246C>T ENST00000373615.4 + 2 866 c.127C>T c.(127-129)Ccg>Tcg p.P43S NM_004789.3 NP_004780.3 P50458 LHX2_HUMAN LIM homeobox 2 43 nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1) 10 GCAGACCATGCCGTCCATCAG 0.701000 5 267 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138449640 138449640 + Missense_Mutation SNP A A T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr4:138449640A>T ENST00000344876.4 - 3 3118 c.2732T>A c.(2731-2733)aTt>aAt p.I911N PCDH18_ENST00000511115.1_Missense_Mutation_p.I91N|PCDH18_ENST00000510305.1_Missense_Mutation_p.I122N|PCDH18_ENST00000507846.1_Missense_Mutation_p.I690N|PCDH18_ENST00000412923.2_Missense_Mutation_p.I910N NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 911 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) ACCTGCTGGAATTCTTCCATC 0.403000 191 730 0 0 1 0 0 PCDHB7 0 broad.mit.edu 37 5 140553676 140553676 + Silent SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:140553676C>T ENST00000231137.3 + 1 1434 c.1260C>T c.(1258-1260)acC>acT p.T420T NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 420 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAACATCACCATCACCGTCA 0.512000 11 446 0 0 1 0 0 PCDHA7 0 broad.mit.edu 37 5 140216008 140216008 + Silent SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:140216008G>A ENST00000525929.1 + 1 2040 c.2040G>A c.(2038-2040)tcG>tcA p.S680S PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Silent_p.S680S|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGCGTCGTCGCGGGCATCGT 0.622000 89 385 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101375398 101375398 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr11:101375398C>T ENST00000344327.3 - 2 726 c.302G>A c.(301-303)cGc>cAc p.R101H TRPC6_ENST00000532133.1_Missense_Mutation_p.R101H|TRPC6_ENST00000360497.4_Missense_Mutation_p.R101H|TRPC6_ENST00000348423.4_Missense_Mutation_p.R101H NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 101 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) ATCCAAAAAGCGTTCCTCCTC 0.483000 125 532 0 0 1 0 0 DIAPH3 81624 broad.mit.edu 37 13 60557994 60557994 + Silent SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr13:60557994C>T ENST00000400324.4 - 13 1609 c.1389G>A c.(1387-1389)gaG>gaA p.E463E DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000267215.4_Silent_p.E463E|DIAPH3_ENST00000400319.1_Silent_p.E393E|DIAPH3_ENST00000377908.2_Silent_p.E452E|DIAPH3_ENST00000400330.1_Silent_p.E463E|DIAPH3_ENST00000400320.1_Silent_p.E417E NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 463 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) GGGATACACACTCATCAATTA 0.313000 107 427 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119568096 119568096 + Silent SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr9:119568096G>A ENST00000313400.4 - 13 2311 c.2211C>T c.(2209-2211)tgC>tgT p.C737C ASTN2_ENST00000373996.3_Silent_p.C733C|ASTN2_ENST00000361209.2_Silent_p.C686C|ASTN2_ENST00000361477.3_5'UTR O75129 ASTN2_HUMAN astrotactin 2 737 EGF-like 3. integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 ACTCCTCCACGCAACTGTATG 0.488000 5 491 0 0 1 0 0 UBB 7314 broad.mit.edu 37 17 16285788 16285788 + Silent SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr17:16285788C>T ENST00000302182.3 + 2 959 c.567C>T c.(565-567)ccC>ccT p.P189P UBB_ENST00000535788.1_Silent_p.P113P|UBB_ENST00000395837.1_Silent_p.P189P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Silent_p.P189P|UBB_ENST00000578649.1_3'UTR NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 189 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.P189P(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AAGGCATCCCCCCCGACCAGC 0.552000 7 295 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 9 301 0 0 1 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71276861 71276861 + Silent SNP T T C rs36179995 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr11:71276861T>C ENST00000398531.1 + 1 253 c.228T>C c.(226-228)tcT>tcC p.S76S KRTAP5-10_ENST00000376536.4_Intron NM_001012710.1 NP_001012728.1 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 76 7 X 4 AA repeats of C-C-X-P. keratin filament endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 ACTGTGGCTCTTGTGGGGGCT 0.677000 12 1628 0 0 1 0 0 MAGEC3 139081 broad.mit.edu 37 X 140985098 140985098 + Silent SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chrX:140985098C>T ENST00000298296.1 + 7 1554 c.1554C>T c.(1552-1554)ccC>ccT p.P518P MAGEC3_ENST00000443323.2_Silent_p.P140P|MAGEC3_ENST00000409007.1_Silent_p.P220P|MAGEC3_ENST00000544766.1_Silent_p.P220P|MAGEC3_ENST00000536088.1_Silent_p.P220P NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 518 MAGE 2. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) ATATGGACCCCGACAACCACT 0.448000 8 510 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117658040 117658040 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr12:117658040G>A ENST00000317775.6 - 27 4695 c.4010C>T c.(4009-4011)gCg>gTg p.A1337V NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.A1371V NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1337 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CACAGACTCCGCCAGCTGCTC 0.597000 6 908 0 0 1 0 0 LAMB2 3913 broad.mit.edu 37 3 49162783 49162783 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr3:49162783G>A ENST00000418109.1 - 20 2787 c.2623C>T c.(2623-2625)Cgg>Tgg p.R875W LAMB2_ENST00000464891.1_5'UTR|LAMB2_ENST00000305544.4_Missense_Mutation_p.R875W NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 875 Laminin EGF-like 7. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ACACATGGCCGGCAGCTAGGG 0.597000 5 643 0 0 1 0 0 CHST1 8534 broad.mit.edu 37 11 45671609 45671609 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr11:45671609G>A ENST00000308064.2 - 4 1535 c.865C>T c.(865-867)Cgg>Tgg p.R289W NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 289 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) CACGGGGGCCGCATGAGGCCG 0.617000 5 553 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10417285 10417285 + Silent SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr3:10417285G>A ENST00000397077.1 - 10 1685 c.1110C>T c.(1108-1110)taC>taT p.Y370Y ATP2B2_ENST00000360273.2_Silent_p.Y415Y|ATP2B2_ENST00000383800.4_Silent_p.Y370Y|ATP2B2_ENST00000352432.4_Silent_p.Y415Y|ATP2B2_ENST00000343816.4_Silent_p.Y401Y Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 415 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CCACAGTGAAGTAGAGCACCA 0.557000 54 173 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.532000 T MLL ALL 13 202 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30955025 30955025 + Missense_Mutation SNP G G A rs55763085 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr6:30955025G>A ENST00000376296.3 + 2 1314 c.1073G>A c.(1072-1074)aGc>aAc p.S358N MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 358 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane p.S358N(1) NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 AGTGGGGCCAGCACAGCCACC 0.642000 8 1063 0 0 1 0 0 TMPRSS11E 28983 broad.mit.edu 37 4 69337338 69337338 + Missense_Mutation SNP A A G TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr4:69337338A>G ENST00000305363.4 + 5 551 c.487A>G c.(487-489)Aaa>Gaa p.K163E NM_014058.3 NP_054777.2 Q9UL52 TM11E_HUMAN transmembrane protease, serine 11E 163 SEA. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity endometrium(1)|lung(19)|pancreas(1)|skin(3) 24 AGTTAAAATTAAAAGTAAGTT 0.308000 102 467 0 0 1 0 0 LCN1 3933 broad.mit.edu 37 9 138413373 138413373 + Silent SNP T T C TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr9:138413373T>C ENST00000263598.2 + 1 90 c.30T>C c.(28-30)ctT>ctC p.L10L LCN1_ENST00000371781.3_Silent_p.L10L NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3 NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1 P31025 LCN1_HUMAN lipocalin 1 10 proteolysis|response to stimulus|sensory perception of taste extracellular region cysteine-type endopeptidase inhibitor activity|transporter activity p.L10L(2) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5) 13 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155) CCGTCAGCCTTGGCCTCATTG 0.667000 6 178 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 63088384 63088384 + Missense_Mutation SNP C C A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr15:63088384C>A ENST00000561311.1 + 46 6172 c.5942C>A c.(5941-5943)aCa>aAa p.T1981K TLN2_ENST00000306829.6_Missense_Mutation_p.T1981K Q9Y4G6 TLN2_HUMAN talin 2 1981 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 GCATGCATTACAGCCGCCACC 0.562000 6 401 5.9392e-07 6.34133e-07 1 1 0 AC008103.5 0 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 6 35 0 0 1 0 0 GOLIM4 27333 broad.mit.edu 37 3 167728536 167728536 + Nonsense_Mutation SNP C C A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr3:167728536C>A ENST00000470487.1 - 15 2625 c.1936G>T c.(1936-1938)Gaa>Taa p.E646* GOLIM4_ENST00000309027.4_Nonsense_Mutation_p.E618* NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 646 Glu-rich. transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CATACATTTTCATCATTTTCA 0.378000 5 484 1 1 1 1 0 MON2 23041 broad.mit.edu 37 12 62936898 62936898 + Missense_Mutation SNP G G T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr12:62936898G>T ENST00000393630.3 + 20 2777 c.2386G>T c.(2386-2388)Gcc>Tcc p.A796S MON2_ENST00000280379.6_Missense_Mutation_p.A796S|MON2_ENST00000393629.2_Missense_Mutation_p.A796S|MON2_ENST00000552738.1_Missense_Mutation_p.A773S|MON2_ENST00000552115.1_Missense_Mutation_p.A796S|MON2_ENST00000393632.2_Missense_Mutation_p.A796S|MON2_ENST00000546600.1_Missense_Mutation_p.A796S NM_001278470.1|NM_001278472.1 NP_001265399.1|NP_001265401.1 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) 796 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) TTTTGCTGTTGCCAAATTGTT 0.333000 6 401 3.59834e-05 3.78287e-05 1 1 0 MST1 4485 broad.mit.edu 37 3 49723542 49723542 + Missense_Mutation SNP G G C rs2087732 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr3:49723542G>C ENST00000449682.2 - 9 1461 c.1100C>G c.(1099-1101)gCc>gGc p.A367G MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 353 proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GTAGCAAAAGGCCGCGCGCAT 0.672000 4 203 0 0 1 0 0 CHSY3 337876 broad.mit.edu 37 5 129520070 129520070 + Missense_Mutation SNP G G A rs140992502 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:129520070G>A ENST00000305031.4 + 3 1593 c.1235G>A c.(1234-1236)cGc>cAc p.R412H CHSY3_ENST00000507545.1_3'UTR NM_175856.4 NP_787052.3 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 412 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) ATGCTCAGCCGCAAAATTTCT 0.478000 6 365 0 0 1 0 0 DHX8 1659 broad.mit.edu 37 17 41601211 41601211 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr17:41601211G>A ENST00000262415.3 + 23 3731 c.3659G>A c.(3658-3660)cGc>cAc p.R1220H DHX8_ENST00000540306.1_Intron NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 1220 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) TTCCGACGGCGCTGAAAGGCA 0.517000 4 208 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117651507 117651507 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr11:117651507C>T ENST00000321322.6 - 2 246 c.245G>A c.(244-246)gGc>gAc p.G82D DSCAML1_ENST00000527706.1_Missense_Mutation_p.G22D NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 22 Ig-like C2-type 1. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GAGGCTGGTGCCAACATCTTC 0.612000 19 34 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 6 458 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20071525 20071525 + Missense_Mutation SNP C C T rs139381407 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr20:20071525C>T ENST00000245957.5 + 7 680 c.604C>T c.(604-606)Cgc>Tgc p.R202C C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.R202C|C20orf26_ENST00000377306.1_Missense_Mutation_p.R202C|C20orf26_ENST00000389656.3_5'UTR NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 202 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) AATATTTATGCGCTATGACAC 0.433000 6 890 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 10 229 0 0 1 0 0 PADI6 353238 broad.mit.edu 37 1 17721722 17721723 + RNA DEL GA GA - rs58784721 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:17721722_17721723delGA ENST00000434762.2 + 0 1545 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) tttgttttttgagagtcttgct 0.485 9 65 --- --- --- --- CCDC28B 79140 broad.mit.edu 37 1 32670247 32670248 + Frame_Shift_Del DEL TG TG - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:32670247_32670248delTG ENST00000421922.2 + 5 674_675 c.574_575delTG c.(574-576)tfs p.C192fs CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 0 large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AACCCGTCTATGTGTGTGTGTT 0.500 11 1038 --- --- --- --- BCL10 8915 broad.mit.edu 37 1 85736511 85736511 + Frame_Shift_Del DEL T T - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:85736511delT ENST00000370580.1 - 2 873 c.136delA c.(136-138)tafs p.I46fs NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 46 CARD. apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding p.I46fs*4(1) haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) CTACTGAGTATTTTTTTTGCA 0.343 T IGH@ MALT 8 468 --- --- --- --- SYCP1 6847 broad.mit.edu 37 1 115537600 115537601 + Frame_Shift_Ins INS - - A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:115537600_115537601insA ENST00000369522.3 + 32 3131_3132 c.2891_2892insA c.(2890-2892)aaafs p.K964fs SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.K964fs NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 964 Arg/Lys-rich (basic). cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AAAATGGATAGAAAAAAAAAAC 0.356 25 323 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121116645 121116645 + RNA DEL T T - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:121116645delT ENST00000437515.1 - 0 329 CAAGCCCCCCTTTAAAAAAAA 0.393 15 253 --- --- --- --- ANKRD20A12P 0 broad.mit.edu 37 1 142716575 142716578 + RNA DEL AAAC AAAC - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:142716575_142716578delAAAC ENST00000595144.1 - 0 418 catctcagaaaaacaaacaaacaa 0.422 9 200 --- --- --- --- SRGAP2B 0 broad.mit.edu 37 1 144043905 144043906 + RNA INS - - G TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:144043905_144043906insG ENST00000467933.1 + 0 1108 tcgctcacgctggagctgtaga 0.535 7 63 --- --- --- --- ADAMTSL4 54507 broad.mit.edu 37 1 150530550 150530550 + Frame_Shift_Del DEL C C - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:150530550delC ENST00000271643.4 + 14 2543 c.2307delC c.(2305-2307)ctfs p.L769fs ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.L769fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.L792fs|ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.L769fs NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 769 TSP type-1 2. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GTGGACATCTCCCCCGGCCCA 0.682 7 1479 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:154245864_154245866delGAA ENST00000328703.7 + 2 319_321 c.106_108delGAA c.(106-108)del p.E40del HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 Kostmann syndrome 8 414 --- --- --- --- KCNN3 3782 broad.mit.edu 37 1 154842331 154842333 + In_Frame_Del DEL TGC TGC - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:154842331_154842333delTGC ENST00000271915.3 - 1 423_425 c.108_110delGCA c.(106-111)caa>ca p.QQ40del NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 40 Poly-Gln. integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) ctgctgctgttgctgctgctgct 0.670 7 80 --- --- --- --- NR1I3 0 broad.mit.edu 37 1 161202999 161203000 + Frame_Shift_Ins INS - - G rs139473535 by1000genomes TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:161202999_161203000insG ENST00000367983.4 - 4 661_662 c.367_368insC c.(367-369)ccafs p.P123fs NR1I3_ENST00000367982.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.P48fs|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.P94fs Q14994 NR1I3_HUMAN nuclear receptor subfamily 1, group I, member 3 123 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 15 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) GCCCATGTGGCGGGTGTGGGCC 0.564 8 1181 --- --- --- --- APOBEC4 403314 broad.mit.edu 37 1 183616826 183616828 + In_Frame_Del DEL TTC TTC - rs141411396 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:183616826_183616828delTTC ENST00000308641.4 - 2 1360_1362 c.1089_1091delGAA c.(1087-1092)aaa>aa p.KK363del RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000367531.1_Intron|RGL1_ENST00000304685.3_Intron NM_203454.2 NP_982279.1 Q8WW27 ABEC4_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) 363 mRNA processing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1) 21 TTTCTTCCCTTTCTTCTTCTTCT 0.419 11 657 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186276386 186276388 + In_Frame_Del DEL AGG AGG - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:186276386_186276388delAGG ENST00000445192.2 + 7 1580_1582 c.1535_1537delAGG c.(1534-1539)aag>a p.KE512del PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_In_Frame_Del_p.KE419del|PRG4_ENST00000367483.4_In_Frame_Del_p.KE471del|PRG4_ENST00000367486.3_In_Frame_Del_p.KE469del NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 512 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCACCACCAAGGAGCCTTCACC 0.640 9 1013 --- --- --- --- PIK3C2B 5287 broad.mit.edu 37 1 204438072 204438072 + Frame_Shift_Del DEL G G - rs115574296 by1000genomes TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:204438072delG ENST00000367187.3 - 3 1415 c.859delC c.(859-861)gcfs p.R287fs PIK3C2B_ENST00000424712.2_Frame_Shift_Del_p.R287fs NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 287 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding p.R287fs*92(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GCATAGGTGCGGGGGGGCACC 0.622 8 806 --- --- --- --- PTPN14 5784 broad.mit.edu 37 1 214557049 214557051 + In_Frame_Del DEL CCT CCT - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:214557049_214557051delCCT ENST00000366956.5 - 13 2341_2343 c.2147_2149delAGG c.(2146-2151)gct>g p.EA716del PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 716 Poly-Glu. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding p.E716delE(1) NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GATTCTGGAGCCTCCTCCTCCTC 0.626 14 395 --- --- --- --- C2orf71 388939 broad.mit.edu 37 2 29295647 29295649 + In_Frame_Del DEL TCC TCC - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr2:29295647_29295649delTCC ENST00000331664.5 - 1 1478_1480 c.1479_1481delGGA c.(1477-1482)gaa>ga p.EE493del NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 493 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CATTTTGTCTTCCTCCTCCTCCT 0.542 12 917 --- --- --- --- AFTPH 54812 broad.mit.edu 37 2 64778672 64778674 + In_Frame_Del DEL GAT GAT - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr2:64778672_64778674delGAT ENST00000422803.1 + 2 378_380 c.64_66delGAT c.(64-66)del p.D26del AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del Q6ULP2 AFTIN_HUMAN aftiphilin 26 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 TGGAGCAGAGGATGATGATGATG 0.409 7 730 --- --- --- --- IL1R2 7850 broad.mit.edu 37 2 102638648 102638649 + Splice_Site INS - - A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr2:102638648_102638649insA ENST00000332549.3 + 6 917_918 c.e6-1 IL1R2_ENST00000393414.2_Splice_Site|IL1R2_ENST00000441002.1_Splice_Site NM_004633.3 NP_004624.1 P27930 IL1R2_HUMAN interleukin 1 receptor, type II immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) ATCTTTCTCAGAAAAAAAAGAA 0.441 7 769 --- --- --- --- PLA2R1 0 broad.mit.edu 37 2 160801441 160801442 + Frame_Shift_Ins INS - - T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr2:160801441_160801442insT ENST00000283243.7 - 28 4325_4326 c.4119_4120insA c.(4117-4122)aagcttfs p.L1374fs PLA2R1_ENST00000460710.1_5'UTR NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 1374 C-type lectin 8. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 CATATAAAGCCTTTTTTTTCTT 0.401 8 864 --- --- --- --- AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 39 --- --- --- --- IRS1 3667 broad.mit.edu 37 2 227660808 227660810 + In_Frame_Del DEL GCT GCT - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr2:227660808_227660810delGCT ENST00000305123.4 - 1 3665_3667 c.2645_2647delAGC c.(2644-2649)ccc>c p.QP882del NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 882 Poly-Gln. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) TGCAGCAAGGgctgctgctgctg 0.626 12 361 --- --- --- --- GAL3ST2 64090 broad.mit.edu 37 2 242738494 242738496 + In_Frame_Del DEL TCC TCC - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr2:242738494_242738496delTCC ENST00000192314.6 + 2 175_177 c.44_46delTCC c.(43-48)atc>a p.IL15del NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 15 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity p.L16I(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) TTCCGGGTCATCCTCCTCCTCCT 0.631 13 544 --- --- --- --- EDEM1 9695 broad.mit.edu 37 3 5248941 5248941 + Frame_Shift_Del DEL T T - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr3:5248941delT ENST00000256497.4 + 7 1454 c.1321delT c.(1321-1323)ttfs p.F442fs EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs NM_014674.2 NP_055489.1 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 1 442 ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) TCTGCAGGCCTTTTTCCCTGG 0.463 8 770 --- --- --- --- MST1R 4486 broad.mit.edu 37 3 49940112 49940112 + Frame_Shift_Del DEL C C - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr3:49940112delC ENST00000296474.3 - 1 958 c.931delG c.(931-933)ccfs p.A311fs CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Frame_Shift_Del_p.A311fs NM_002447.2 NP_002438.2 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 311 Sema. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CCTTCTGGGGCCCCCCGGCGC 0.667 7 1010 --- --- --- --- MAGI1 9223 broad.mit.edu 37 3 65372850 65372851 + Frame_Shift_Del DEL TC TC - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr3:65372850_65372851delTC ENST00000330909.8 - 15 2466_2467 c.2467_2468delGA c.(2467-2469)afs p.E823fs MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs|MAGI1_ENST00000497477.2_Intron NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 823 PDZ 4. 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) GGAATTGATTTCTCTCTCTCTC 0.401 15 334 --- --- --- --- LRIG1 26018 broad.mit.edu 37 3 66436625 66436627 + In_Frame_Del DEL GCT GCT - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr3:66436625_66436627delGCT ENST00000383703.3 - 14 2242_2244 c.1639_1641delAGC c.(1639-1641)del p.S548del LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 524 Ig-like C2-type 1. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TCATGGGGGAGCTGCTGCTGCTG 0.547 8 1532 --- --- --- --- KIAA1407 57577 broad.mit.edu 37 3 113699548 113699548 + Frame_Shift_Del DEL T T - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr3:113699548delT ENST00000295878.3 - 14 2402 c.2256delA c.(2254-2256)aafs p.K752fs KIAA1407_ENST00000545063.1_3'UTR NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 752 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 GCTCTAGACCTTTTTTCCTTA 0.408 7 1072 --- --- --- --- WWTR1 25937 broad.mit.edu 37 3 149260194 149260196 + In_Frame_Del DEL CTG CTG - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr3:149260194_149260196delCTG ENST00000465804.1 - 5 953_955 c.697_699delCAG c.(697-699)del p.Q233del WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del|WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del NM_001168278.1 NP_001161750.1 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 233 Gln-rich. hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 23 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GCCGCAGTTTCTGCTGCTGCTGC 0.581 T CAMTA1 epitheliod hemangioendothelioma 8 391 --- --- --- --- SDHAP1 0 broad.mit.edu 37 3 195713385 195713386 + RNA INS - - T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr3:195713385_195713386insT ENST00000427841.1 - 0 176 NR_003264.2 AAAGCATGAACTTACGGAATCT 0.401 15 82 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1389456 1389457 + Frame_Shift_Del DEL CA CA - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr4:1389456_1389457delCA ENST00000324803.4 + 1 4117_4118 c.1157_1158delCA c.(1156-1158)tfs p.S386fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 386 Interaction with PAK1. ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CCTGCCTGCTCACACACGTGCC 0.639 7 1510 --- --- --- --- OTOP1 133060 broad.mit.edu 37 4 4204225 4204229 + Frame_Shift_Del DEL TTGAG TTGAG - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr4:4204225_4204229delTTGAG ENST00000296358.4 - 4 700_704 c.676_680delCTCAA c.(676-681)tfs p.LN226fs NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 226 biomineral tissue development extracellular space|integral to membrane p.L226fs*1(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTTGTGCTCATTGAGTTGGTGCTTT 0.502 9 604 --- --- --- --- UTP3 57050 broad.mit.edu 37 4 71554620 71554622 + In_Frame_Del DEL GAG GAG - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr4:71554620_71554622delGAG ENST00000254803.2 + 1 425_427 c.226_228delGAG c.(226-228)del p.E81del NM_020368.2 NP_065101.1 Q9NQZ2 SAS10_HUMAN UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) 81 Glu-rich. brain development|chromatin modification|gene silencing nucleolus endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4) 18 Lung(101;0.235) ggaggatggcgaggaggaggagg 0.567 12 255 --- --- --- --- ADH1C 126 broad.mit.edu 37 4 100268753 100268754 + RNA INS - - ATTTAT rs35500540 byFrequency TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr4:100268753_100268754insATTTAT ENST00000515683.1 - 0 472 ADH1C_ENST00000510055.1_RNA NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) AAAATTTAACAATTTATACTTT 0.243 4 8 --- --- --- --- NPNT 255743 broad.mit.edu 37 4 106863682 106863684 + In_Frame_Del DEL CCA CCA - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr4:106863682_106863684delCCA ENST00000379987.2 + 8 1198_1200 c.982_984delCCA c.(982-984)del p.P333del NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 333 Pro-rich. cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) AATTCCTACTCCACCACCACCAC 0.522 8 478 --- --- --- --- ZFR 51663 broad.mit.edu 37 5 32419951 32419953 + In_Frame_Del DEL GGT GGT - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:32419951_32419953delGGT ENST00000265069.8 - 3 495_497 c.393_395delACC c.(391-396)ccc>cc p.PP131del NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 131 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) AGTAGCTGGGGGTGGTGGTGGTG 0.483 16 1225 --- --- --- --- SPEF2 79925 broad.mit.edu 37 5 35691186 35691187 + Frame_Shift_Ins INS - - CCACCCT TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:35691186_35691187insCCACCCT ENST00000440995.2 + 11 1572_1573 c.1572_1573insCCACCCT c.(1570-1575)ttcaccfs p.T525fs SPEF2_ENST00000509059.1_Frame_Shift_Ins_p.T525fs|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Frame_Shift_Ins_p.T525fs Q9C093 SPEF2_HUMAN sperm flagellar 2 525 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTGACAATTTACCACCCTCCAA 0.396 31 391 --- --- --- --- GCNT4 51301 broad.mit.edu 37 5 74324983 74324983 + Frame_Shift_Del DEL G G - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:74324983delG ENST00000322348.4 - 1 1741 c.880delC c.(880-882)atfs p.H294fs NM_016591.2 NP_057675.1 Q9P109 GCNT4_HUMAN glucosaminyl (N-acetyl) transferase 4, core 2 294 protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity p.H294fs*2(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2) 19 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) TGAATGTTATGGGGGGGTGCT 0.363 7 459 --- --- --- --- AP3S1 1176 broad.mit.edu 37 5 115202418 115202421 + Frame_Shift_Del DEL AAGA AAGA - rs80118146 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:115202418_115202421delAAGA ENST00000316788.7 + 2 678_681 c.121_124delAAGA c.(121-126)gafs p.KR41fs NM_001284.2 NP_001275.1 Q92572 AP3S1_HUMAN adaptor-related protein complex 3, sigma 1 subunit 41 insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle protein binding|protein transporter activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1) 12 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05) TTTGGTATCTAAGAGAGATGAAAA 0.304 9 272 --- --- --- --- SLC22A4 6583 broad.mit.edu 37 5 131676327 131676327 + Frame_Shift_Del DEL T T - rs72552721 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:131676327delT ENST00000200652.3 + 9 1688 c.1514delT c.(1513-1515)ctfs p.L505fs AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 505 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity p.E509fs*1(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) ATCCTCACCCTTTTTTTCCCT 0.418 10 832 --- --- --- --- AFF4 27125 broad.mit.edu 37 5 132270259 132270259 + Frame_Shift_Del DEL T T - rs35626495 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:132270259delT ENST00000265343.5 - 3 877 c.498delA c.(496-498)aafs p.K166fs AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Frame_Shift_Del_p.K166fs NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 166 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CATGCTGGCCTTTTTTCCGGC 0.512 7 853 --- --- --- --- RNF145 153830 broad.mit.edu 37 5 158630629 158630630 + Frame_Shift_Ins INS - - T rs114633421 byFrequency TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:158630629_158630630insT ENST00000274542.2 - 2 106_107 c.80_81insA c.(79-81)aaafs p.K27fs RNF145_ENST00000518802.1_Frame_Shift_Ins_p.K29fs|RNF145_ENST00000424310.2_5'UTR|RNF145_ENST00000519865.1_5'UTR|RNF145_ENST00000521606.2_Frame_Shift_Ins_p.K16fs|RNF145_ENST00000520638.1_Frame_Shift_Ins_p.K13fs NM_144726.2 NP_653327.1 Q96MT1 RN145_HUMAN ring finger protein 145 0 integral to membrane zinc ion binding p.N27K(1) endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAGCCATGTTGttttttttttt 0.376 12 346 --- --- --- --- CANX 821 broad.mit.edu 37 5 179149920 179149920 + Frame_Shift_Del DEL T T - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:179149920delT ENST00000247461.4 + 11 1498 c.1298delT c.(1297-1299)atfs p.I433fs CANX_ENST00000415618.2_Frame_Shift_Del_p.I468fs|CANX_ENST00000452673.2_Frame_Shift_Del_p.I433fs|CANX_ENST00000512607.2_Frame_Shift_Del_p.I325fs|CANX_ENST00000504734.1_Frame_Shift_Del_p.I433fs NM_001746.3 NP_001737.1 P27824 CALX_HUMAN calnexin 433 SDI -> LTF (in Ref. 9; AAA35696). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3) 22 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCTCTGACATTTTTTTTGAC 0.423 9 453 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - - G TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr6:31939825_31939826insG ENST00000375331.2 + 1 218_219 c.52_53insG c.(52-54)ggcfs p.G18fs STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCGACAGTGGCGGGCAAACCCC 0.634 7 741 --- --- --- --- MTHFD1L 25902 broad.mit.edu 37 6 151358163 151358164 + Frame_Shift_Ins INS - - A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr6:151358163_151358164insA ENST00000367321.3 + 26 3031_3032 c.2757_2758insA c.(2755-2760)gaaaaafs p.EK919fs NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 919 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity p.L914fs*14(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) ACCAACCTGACAAAAAAGGTGT 0.480 9 400 --- --- --- --- BBS9 27241 broad.mit.edu 37 7 33312723 33312723 + Frame_Shift_Del DEL T T - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr7:33312723delT ENST00000242067.6 + 8 1323 c.802delT c.(802-804)ttfs p.F269fs BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs|BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs|BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 269 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) TGAGAGAAACTTTTTTTGCCT 0.393 Bardet-Biedl syndrome 7 731 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150824 65150825 + RNA INS - - G TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr7:65150824_65150825insG ENST00000430126.2 + 0 757 TCACCCCCCCCCCCGTTAAAAT 0.470 9 20 --- --- --- --- PUS7 54517 broad.mit.edu 37 7 105122888 105122888 + Splice_Site DEL C C - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr7:105122888delC ENST00000356362.2 - 8 1135 c.e8-1 PUS7_ENST00000469408.1_Splice_Site NM_019042.3 NP_061915.2 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae) pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1) 23 TGCAGTTATTCTTTaaaaaaa 0.348 7 579 --- --- --- --- OR9A4 130075 broad.mit.edu 37 7 141619203 141619203 + Frame_Shift_Del DEL T T - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr7:141619203delT ENST00000548136.1 + 1 587 c.528delT c.(526-528)aafs p.N176fs MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) TGGTGAACAATTTTTTTTGTG 0.383 7 796 --- --- --- --- TRBV6-5 0 broad.mit.edu 37 7 142180819 142180821 + RNA DEL AGG AGG - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr7:142180819_142180821delAGG ENST00000390368.2 - 0 115 CCTGCAGAGAAGGAGAACAAAGC 0.557 13 437 --- --- --- --- RP1L1 94137 broad.mit.edu 37 8 10480104 10480104 + Splice_Site DEL T T - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr8:10480104delT ENST00000382483.3 - 2 831 c.609_splice c.e2+1 p.K203_splice RP1L1_ENST00000329335.3_5'UTR NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 203 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) ACAGCCTACCTTTTTCCCGCT 0.483 7 1091 --- --- --- --- CTD-2547L16.1 0 broad.mit.edu 37 8 17946060 17946060 + RNA DEL T T - rs142591230 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr8:17946060delT ENST00000499554.2 + 0 483 CTD-2547L16.1_ENST00000521775.1_RNA GTGAACACTCttttttttttt 0.438 7 65 --- --- --- --- NUGGC 389643 broad.mit.edu 37 8 27888776 27888776 + Frame_Shift_Del DEL T T - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr8:27888776delT ENST00000413272.2 - 15 2034 c.1892delA c.(1891-1893)atfs p.N631fs NUGGC_ENST00000341513.6_Frame_Shift_Del_p.N631fs NM_001010906.1 NP_001010906.1 nuclear GTPase, germinal center associated GATCAGGAAATTTTTTTTGCA 0.453 7 886 --- --- --- --- WRN 7486 broad.mit.edu 37 8 30945377 30945379 + In_Frame_Del DEL AAG AAG - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr8:30945377_30945379delAAG ENST00000298139.5 + 12 1766_1768 c.1517_1519delAAG c.(1516-1521)aaa>a p.KE506del NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 506 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CTTCCTACTAaagaagaagaaga 0.360 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 8 343 --- --- --- --- SLC39A4 55630 broad.mit.edu 37 8 145637952 145637954 + In_Frame_Del DEL CAG CAG - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr8:145637952_145637954delCAG ENST00000276833.5 - 11 2140_2142 c.1837_1839delCTG c.(1837-1839)del p.L613del SLC39A4_ENST00000531013.1_5'UTR|SLC39A4_ENST00000301305.3_In_Frame_Del_p.L638del NM_017767.2 NP_060237.2 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), member 4 638 cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 14 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) CGTACAGGGACAGCAGCAGCAGG 0.601 7 868 --- --- --- --- FOXE1 2304 broad.mit.edu 37 9 100616701 100616706 + In_Frame_Del DEL GCCGCC GCCGCC - rs11279082 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr9:100616701_100616706delGCCGCC ENST00000375123.3 + 1 1166_1171 c.505_510delGCCGCC c.(505-510)del p.AA177del NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 177 Ala-rich.|Poly-Ala. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter 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 central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) Ggctgccgcagccgccgccgccgccg 0.767 9 54 --- --- --- --- DAB2IP 153090 broad.mit.edu 37 9 124522389 124522391 + In_Frame_Del DEL AAG AAG - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr9:124522389_124522391delAAG ENST00000408936.3 + 6 1023_1025 c.841_843delAAG c.(841-843)del p.K285del DAB2IP_ENST00000309989.1_In_Frame_Del_p.K161del|DAB2IP_ENST00000259371.2_In_Frame_Del_p.K257del Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 285 C2. activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 GGAGACCGACAAGAAGAAGAAGA 0.601 7 368 --- --- --- --- TM9SF3 56889 broad.mit.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr10:98336475delT ENST00000371142.4 - 2 430 c.214delA c.(214-216)gtfs p.S72fs NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 72 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TGACTGATACTTTTTTTTGAC 0.363 9 613 --- --- --- --- INA 9118 broad.mit.edu 37 10 105048271 105048273 + In_Frame_Del DEL GAG GAG - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr10:105048271_105048273delGAG ENST00000369849.4 + 3 1394_1396 c.1345_1347delGAG c.(1345-1347)del p.E454del NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 454 Poly-Glu.|Tail. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton p.E449_E450delEE(1) breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) ACTTAAGAAAGAGGAGGAGGAGG 0.458 20 643 --- --- --- --- APBB1 322 broad.mit.edu 37 11 6432090 6432092 + In_Frame_Del DEL TCC TCC - rs145320037 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr11:6432090_6432092delTCC ENST00000389906.2 - 2 585_587 c.486_488delGGA c.(484-489)gat>ga p.ED162del APBB1_ENST00000311051.3_In_Frame_Del_p.ED162del|APBB1_ENST00000299402.6_In_Frame_Del_p.ED162del|APBB1_ENST00000533407.1_Intron NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 162 Glu-rich. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding p.E162D(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) atcatcatcatcctcctcctcct 0.635 14 240 --- --- --- --- NAV2 89797 broad.mit.edu 37 11 19901475 19901477 + In_Frame_Del DEL AGC AGC - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr11:19901475_19901477delAGC ENST00000396085.1 + 5 933_935 c.572_574delAGC c.(571-576)aag>a p.KQ191del NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000349880.4_In_Frame_Del_p.KQ191del|NAV2_ENST00000360655.4_In_Frame_Del_p.KQ127del|NAV2_ENST00000396087.3_In_Frame_Del_p.KQ191del|NAV2_ENST00000527559.2_In_Frame_Del_p.KQ120del|NAV2_ENST00000540292.1_In_Frame_Del_p.KQ122del NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 191 CH. nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TCCCGATACAagcagcagcagca 0.611 7 482 --- --- --- --- MUC15 143662 broad.mit.edu 37 11 26587427 26587427 + Frame_Shift_Del DEL T T - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr11:26587427delT ENST00000436318.2 - 2 193 c.60delA c.(58-60)aafs p.K20fs MUC15_ENST00000527569.1_Frame_Shift_Del_p.K20fs|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000529533.1_Frame_Shift_Del_p.K20fs|MUC15_ENST00000281268.8_Frame_Shift_Del_p.K20fs|MUC15_ENST00000455601.2_5'UTR|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000525139.1_Intron Q8N387 MUC15_HUMAN mucin 15, cell surface associated 0 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 TTGGTATTGGTTTTTTTTTAA 0.289 7 274 --- --- --- --- CCDC73 493860 broad.mit.edu 37 11 32635951 32635951 + Frame_Shift_Del DEL T T - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr11:32635951delT ENST00000335185.5 - 16 1956 c.1913delA c.(1912-1914)atfs p.N638fs NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 638 p.N638fs*18(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) TGGAACAGGATTTTTTTTTAT 0.313 7 191 --- --- --- --- CKAP5 9793 broad.mit.edu 37 11 46789159 46789159 + Frame_Shift_Del DEL T T - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr11:46789159delT ENST00000529230.1 - 27 3423 c.3377delA c.(3376-3378)agfs p.K1126fs CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K1126fs|CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K1126fs|CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K1126fs Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 1126 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 AGCTTTGGCCTTTTTTGGATC 0.323 7 755 --- --- --- --- CPSF7 79869 broad.mit.edu 37 11 61183765 61183767 + In_Frame_Del DEL AGG AGG - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr11:61183765_61183767delAGG ENST00000340437.4 - 6 984_986 c.904_906delCCT c.(904-906)del p.P302del CPSF7_ENST00000394888.4_In_Frame_Del_p.P259del|CPSF7_ENST00000448745.1_In_Frame_Del_p.P250del|CPSF7_ENST00000439958.3_In_Frame_Del_p.P250del NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 259 Pro-rich. mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 AGTGGATACCAGGAGGAGGAGGA 0.611 8 316 --- --- --- --- YIF1A 10897 broad.mit.edu 37 11 66055346 66055346 + Frame_Shift_Del DEL A A - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr11:66055346delA ENST00000376901.4 - 3 469 c.285delT c.(283-285)ttfs p.F95fs YIF1A_ENST00000471387.2_Intron|YIF1A_ENST00000359461.6_Frame_Shift_Del_p.F95fs NM_020470.2 NP_065203.2 O95070 YIF1A_HUMAN Yip1 interacting factor homolog A (S. cerevisiae) 95 protein transport|vesicle-mediated transport centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1) 9 TGTCCACAGCAAAAAAATACT 0.592 7 1038 --- --- --- --- LRFN4 78999 broad.mit.edu 37 11 66625231 66625233 + In_Frame_Del DEL CTG CTG - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr11:66625231_66625233delCTG ENST00000309602.4 + 1 259_261 c.16_18delCTG c.(16-18)del p.L10del PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_In_Frame_Del_p.L10del|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000531590.1_3'UTR NM_024036.4 NP_076941.2 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III domain containing 4 10 integral to membrane breast(1)|lung(1)|prostate(1) 3 CCCGCCGCTCCTGCTGCTGCTGC 0.719 8 214 --- --- --- --- TAF1D 79101 broad.mit.edu 37 11 93471453 93471453 + Frame_Shift_Del DEL T T - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr11:93471453delT ENST00000448108.2 - 3 931 c.281delA c.(280-282)agfs p.K96fs NM_024116.3 NP_077021.1 Q9H5J8 TAF1D_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa 96 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding large_intestine(1)|lung(3)|prostate(1)|skin(2) 7 CCTCTTTTTCTTTTTTTTATA 0.348 9 788 --- --- --- --- DDX10 1662 broad.mit.edu 37 11 108788635 108788637 + In_Frame_Del DEL TGA TGA - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr11:108788635_108788637delTGA ENST00000526794.1 + 17 2372_2374 c.2340_2342delTGA c.(2338-2343)agt>ag p.SD780del DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 780 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TGGATTGGAGtgatgatgatgat 0.355 T NUP98 AML* 9 326 --- --- --- --- CADM1 23705 broad.mit.edu 37 11 115080312 115080314 + In_Frame_Del DEL TGG TGG - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr11:115080312_115080314delTGG ENST00000537058.1 - 8 1078_1080 c.1058_1060delCCA c.(1057-1062)atc>a p.TI353del CADM1_ENST00000537140.1_Intron|CADM1_ENST00000452722.2_In_Frame_Del_p.TI353del|CADM1_ENST00000331581.6_In_Frame_Del_p.TI353del|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000542447.2_Intron Q9BY67 CADM1_HUMAN cell adhesion molecule 1 353 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) atggtaaggatggtggtggtggt 0.429 11 313 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711145 6711147 + In_Frame_Del DEL TCC TCC - rs71584865 byFrequency TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr12:6711145_6711147delTCC ENST00000309577.6 - 4 580_582 c.417_419delGGA c.(415-420)gat>ga p.ED139del CHD4_ENST00000357008.2_In_Frame_Del_p.ED139del|CHD4_ENST00000544484.1_In_Frame_Del_p.ED136del|CHD4_ENST00000544040.1_In_Frame_Del_p.ED132del Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 139 Poly-Asp. E -> D (in dbSNP:rs1639122). chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 ATCATCATCAtcctcctcctcct 0.453 9 287 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080212 7080213 + RNA INS - - C rs36063533 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr12:7080212_7080213insC ENST00000546220.1 + 0 157_158 U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding GAGGCCGTAGTTTATTGTGGTG 0.569 11 75 --- --- --- --- RP11-551L14.1 0 broad.mit.edu 37 12 31270080 31270081 + RNA INS - - AAA rs112314315 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr12:31270080_31270081insAAA ENST00000542490.1 - 0 52 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CGTTAAACTGGATCTCACTGGA 0.505 15 147 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49427266 49427268 + In_Frame_Del DEL TGC TGC - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr12:49427266_49427268delTGC ENST00000301067.7 - 39 11219_11221 c.11220_11222delGCA c.(11218-11223)caa>ca p.QQ3744del NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.Q3471*(1) ctgctgctgttgctgctgctgct 0.581 8 88 --- --- --- --- ASIC1 41 broad.mit.edu 37 12 50452565 50452567 + In_Frame_Del DEL GAG GAG - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr12:50452565_50452567delGAG ENST00000228468.4 + 2 401_403 c.16_18delGAG c.(16-18)del p.E9del ASIC1_ENST00000447966.2_In_Frame_Del_p.E9del NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 9 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) ACTGAAGGCCGAGGAGGAGGAGG 0.616 7 502 --- --- --- --- ANKRD33 341405 broad.mit.edu 37 12 52282494 52282494 + Frame_Shift_Del DEL G G - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr12:52282494delG ENST00000301190.6 + 2 515 c.288delG c.(286-288)ctfs p.L96fs ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000340970.4_5'UTR NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 0 endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) GCTGCAGGCTGGGGGCCCTGT 0.647 7 470 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759192 55759192 + Frame_Shift_Del DEL T T - rs75456529 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr12:55759192delT ENST00000343399.3 + 1 298 c.298delT c.(298-300)ttfs p.F102fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 GGCTCAGCTATTTTTTTTCAT 0.438 10 709 --- --- --- --- MARS 4141 broad.mit.edu 37 12 57883053 57883053 + Frame_Shift_Del DEL T T - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr12:57883053delT ENST00000262027.5 + 3 338 c.204delT c.(202-204)tafs p.Y68fs MARS_ENST00000447721.2_Intron|MARS_ENST00000315473.5_5'UTR NM_004990.3 NP_004981.2 P56192 SYMC_HUMAN methionyl-tRNA synthetase 68 methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 33 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) TGGGCAGATATTTTTTTTTGT 0.488 12 358 --- --- --- --- MLEC 9761 broad.mit.edu 37 12 121134166 121134168 + In_Frame_Del DEL GAA GAA - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr12:121134166_121134168delGAA ENST00000228506.3 + 5 1125_1127 c.697_699delGAA c.(697-699)del p.E238del MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del NM_014730.2 NP_055545.1 Q14165 MLEC_HUMAN malectin 238 Poly-Glu. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding p.E233E(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 gaaagaagaggaagaagaagaag 0.458 12 716 --- --- --- --- TPTE2 93492 broad.mit.edu 37 13 20041394 20041394 + Frame_Shift_Del DEL A A - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr13:20041394delA ENST00000400230.2 - 7 527 c.483delT c.(481-483)ttfs p.F161fs TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000457266.2_Intron Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 161 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ACTTAATGTCAAAAAAAATGT 0.303 11 392 --- --- --- --- SERPINA1 5265 broad.mit.edu 37 14 94844885 94844885 + Frame_Shift_Del DEL G G - rs143329723 by1000genomes TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr14:94844885delG ENST00000448921.1 - 7 1730 c.1158delC c.(1156-1158)ccfs p.P386fs SERPINA1_ENST00000404814.4_Frame_Shift_Del_p.P386fs|SERPINA1_ENST00000393087.4_Frame_Shift_Del_p.P386fs|SERPINA1_ENST00000437397.1_Frame_Shift_Del_p.P386fs|SERPINA1_ENST00000355814.4_Frame_Shift_Del_p.P386fs|SERPINA1_ENST00000393088.4_Frame_Shift_Del_p.P386fs|SERPINA1_ENST00000440909.1_Frame_Shift_Del_p.P386fs|SERPINA1_ENST00000449399.3_Frame_Shift_Del_p.P386fs NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1 NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1 P01009 A1AT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 386 RCL. P -> H (in Sao Tome).|P -> T (in L-Offenbach). acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) ACTTGACCTCGGGGGGGATAG 0.493 8 411 --- --- --- --- GSC 145258 broad.mit.edu 37 14 95236204 95236205 + In_Frame_Ins INS - - CGC TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr14:95236204_95236205insCGC ENST00000238558.3 - 1 357_358 c.148_149insGCG c.(148-150)ctc>GCGctc p.50_51insA NM_173849.2 NP_776248.1 P56915 GSC_HUMAN goosecoid homeobox 50 gastrulation|middle ear morphogenesis sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 all_cancers(154;0.0896)|all_epithelial(191;0.219) COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239) GTCCGAGGAGGCGCCGCCGCTG 0.762 9 9 --- --- --- --- MOK 5891 broad.mit.edu 37 14 102718302 102718303 + Frame_Shift_Ins INS - - T rs145834415 byFrequency TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr14:102718302_102718303insT ENST00000361847.2 - 5 544_545 c.313_314insA c.(313-315)tatfs p.Y105fs MOK_ENST00000524214.1_Frame_Shift_Ins_p.Y75fs|MOK_ENST00000522874.1_Frame_Shift_Ins_p.Y105fs|MOK_ENST00000193029.6_5'UTR NM_014226.1 NP_055041.1 Q9UQ07 MOK_HUMAN MOK protein kinase 105 Protein kinase. signal transduction Golgi apparatus ATP binding|cyclin-dependent protein kinase activity|protein binding ATAGTGCATAATTTTTTTTTCT 0.322 7 382 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25337049 25337050 + RNA DEL GA GA - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr15:25337049_25337050delGA ENST00000546682.1 + 0 969 SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA NR_003361.1 ACTGGAGCTGGAGAGAGAGAGA 0.500 7 455 --- --- --- --- GOLGA6C 653641 broad.mit.edu 37 15 75562489 75562489 + Frame_Shift_Del DEL C C - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr15:75562489delC ENST00000300576.5 + 18 2031 c.2031delC c.(2029-2031)aafs p.N677fs NM_001164404.1 NP_001157876.1 A6NDK9 GOG6C_HUMAN golgin A6 family, member C 677 ovary(1) 1 CCCATGACAACCCCCCGGTAC 0.602 7 1099 --- --- --- --- ADAMTS7 11173 broad.mit.edu 37 15 79058183 79058184 + Frame_Shift_Ins INS - - TGGGTCC TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr15:79058183_79058184insTGGGTCC ENST00000388820.4 - 19 4279_4280 c.4069_4070insGGACCCA c.(4069-4071)gggfs p.-1357fs NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 AGGCTGACCCTTGGGTCCTGGG 0.653 7 107 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974510 93974510 + RNA DEL C C - rs57286078 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr15:93974510delC ENST00000543286.1 + 0 545 TGGCTGGGTTCtttttttttt 0.433 12 157 --- --- --- --- SH2B1 25970 broad.mit.edu 37 16 28883208 28883208 + Frame_Shift_Del DEL C C - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr16:28883208delC ENST00000337120.5 + 5 4708 c.1417delC c.(1417-1419)ccfs p.P474fs SH2B1_ENST00000322610.8_Frame_Shift_Del_p.P474fs|SH2B1_ENST00000545570.1_Frame_Shift_Del_p.P164fs|SH2B1_ENST00000395532.4_Frame_Shift_Del_p.P474fs|SH2B1_ENST00000538342.1_Frame_Shift_Del_p.P138fs|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000359285.5_Frame_Shift_Del_p.P474fs NM_001145812.1|NM_015503.2 NP_001139284.1|NP_056318.2 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 474 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity). blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 CCCAGAGTTGCCCCCCCGCAT 0.632 7 686 --- --- --- --- ITGAL 0 broad.mit.edu 37 16 30531249 30531251 + In_Frame_Del DEL GCT GCT - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr16:30531249_30531251delGCT ENST00000356798.6 + 30 3480_3482 c.3300_3302delGCT c.(3298-3303)ggg>gg p.GL1100del ITGAL_ENST00000358164.5_In_Frame_Del_p.GL1016del|ITGAL_ENST00000433423.2_In_Frame_Del_p.GL334del NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 1100 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GCATCGGGGGGCTGCTGCTGCTG 0.601 11 1040 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr16:67300017_67300019delGAG ENST00000299798.11 + 15 2172_2174 c.2107_2109delGAG c.(2107-2109)del p.E708del NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 708 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGTGGAGTCTGAGGAGGAGGAGG 0.571 16 329 --- --- --- --- TCF25 22980 broad.mit.edu 37 16 89951019 89951020 + Frame_Shift_Ins INS - - A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr16:89951019_89951020insA ENST00000263346.8 + 3 440_441 c.384_385insA c.(382-387)aaaaaafs p.KK128fs TCF25_ENST00000563406.1_3'UTR NM_014972.2 NP_055787.1 Q9BQ70 TCF25_HUMAN transcription factor 25 (basic helix-loop-helix) 128 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) TCCGGAAGAAGAAAAAAAAACA 0.446 8 141 --- --- --- --- FXR2 9513 broad.mit.edu 37 17 7495872 7495874 + In_Frame_Del DEL CGG CGG - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr17:7495872_7495874delCGG ENST00000250113.7 - 15 2107_2109 c.1773_1775delCCG c.(1771-1776)cgt>cg p.RR591del MPDU1_ENST00000423172.2_3'UTR NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 591 Poly-Arg. R -> P (in dbSNP:rs36013555). cytosolic large ribosomal subunit protein binding|RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) ACCACGGTTACGGCGGCGGCGGC 0.547 9 1127 --- --- --- --- MYH10 4628 broad.mit.edu 37 17 8415820 8415822 + In_Frame_Del DEL TTC TTC - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr17:8415820_8415822delTTC ENST00000360416.3 - 24 3037_3039 c.2899_2901delGAA c.(2899-2901)del p.E967del MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000269243.4_In_Frame_Del_p.E936del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 936 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TTTGGTTTCTTTCTTCTTCTTCT 0.350 9 231 --- --- --- --- SMCR7 0 broad.mit.edu 37 17 18167778 18167780 + In_Frame_Del DEL GCT GCT - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr17:18167778_18167780delGCT ENST00000323019.4 + 4 1276_1278 c.1065_1067delGCT c.(1063-1068)cgg>cg p.RL355del SMCR7_ENST00000395706.2_In_Frame_Del_p.RL366del|SMCR7_ENST00000395704.4_3'UTR NM_001144900.1|NM_139162.3 NP_001138372.1|NP_631901.2 Q96C03 SMCR7_HUMAN 355 integral to membrane protein binding p.L356R(1) breast(1)|central_nervous_system(1)|endometrium(3)|lung(4) 9 all_neural(463;0.228) CTCGCCGGCGGCTGCTGCTGCTG 0.685 11 437 --- --- --- --- SPAG9 9043 broad.mit.edu 37 17 49077041 49077041 + Frame_Shift_Del DEL T T - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr17:49077041delT ENST00000262013.7 - 14 1853 c.1645delA c.(1645-1647)ggfs p.R549fs SPAG9_ENST00000357122.4_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000510283.1_Frame_Shift_Del_p.R392fs|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.R535fs NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 549 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm p.R535fs*28(1) NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) ATGCTTGACCTTTTTTTTTCC 0.323 10 303 --- --- --- --- OSBPL1A 114876 broad.mit.edu 37 18 21745096 21745097 + Frame_Shift_Ins INS - - T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr18:21745096_21745097insT ENST00000319481.3 - 27 2888_2889 c.2682_2683insA c.(2680-2685)aagactfs p.T895fs OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.T513fs|OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.T382fs NM_080597.3 NP_542164.2 Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A 895 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) TCCTCAAGTCGTTTTTTTTCTT 0.460 7 1090 --- --- --- --- SMAD4 4089 broad.mit.edu 37 18 48604742 48604743 + Frame_Shift_Del DEL CC CC - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr18:48604742_48604743delCC ENST00000342988.3 + 12 2102_2103 c.1564_1565delCC c.(1564-1566)tfs p.P522fs SMAD4_ENST00000588745.1_Frame_Shift_Del_p.P426fs|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.P522fs NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 522 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) CAAAGAAACACCTTGCTGGATT 0.480 96 295 --- --- --- --- HDGFRP2 0 broad.mit.edu 37 19 4491824 4491824 + Frame_Shift_Del DEL A A - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr19:4491824delA ENST00000301284.4 + 6 734 c.670delA c.(670-672)aafs p.K227fs HDGFRP2_ENST00000586684.1_Frame_Shift_Del_p.K227fs NM_001001520.1|NM_032631.2 NP_001001520.1|NP_116020.1 Q7Z4V5 HDGR2_HUMAN 227 Ser-rich. transcription, DNA-dependent nucleus DNA binding|protein binding GGGGGGACGGAAAAAAAAGGT 0.632 10 512 --- --- --- --- MLLT1 4298 broad.mit.edu 37 19 6222272 6222274 + In_Frame_Del DEL AGG AGG - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr19:6222272_6222274delAGG ENST00000252674.7 - 6 1131_1133 c.968_970delCCT c.(967-972)ttc>t p.SF323del NM_005934.3 NP_005925.2 Q03111 ENL_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 323 Poly-Ser. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2) 17 TTGTCCGAGAAGGAGGAGGAGGA 0.650 T MLL AL 8 290 --- --- --- --- CHERP 10523 broad.mit.edu 37 19 16640581 16640583 + In_Frame_Del DEL TGC TGC - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr19:16640581_16640583delTGC ENST00000546361.2 - 8 1156_1158 c.1005_1007delGCA c.(1003-1008)caa>ca p.QQ339del CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 339 Gln-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 ctgctgctgttgctgctgctgct 0.670 7 215 --- --- --- --- CTB-52I2.8 0 broad.mit.edu 37 19 18092362 18092362 + RNA DEL A A - rs71164338 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr19:18092362delA ENST00000601725.1 + 0 133 actccatctcaaaaaaaaaaa 0.522 3 6 --- --- --- --- WBP7 0 broad.mit.edu 37 19 36223712 36223712 + Frame_Shift_Del DEL C C - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr19:36223712delC ENST00000420124.1 + 28 6262 c.6262delC c.(6262-6264)cafs p.P2088fs KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Frame_Shift_Del_p.P2088fs TCCTTCGGGGCCAGGAGTAGT 0.662 17 101 --- --- --- --- PRX 57716 broad.mit.edu 37 19 40900180 40900182 + In_Frame_Del DEL TCC TCC - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr19:40900180_40900182delTCC ENST00000324001.7 - 7 4347_4349 c.4077_4079delGGA c.(4075-4080)gaa>ga p.EE1359del PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1359 Poly-Glu. Missing. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACTGCcctcttcctcctcctcct 0.695 9 167 --- --- --- --- PVRL2 5819 broad.mit.edu 37 19 45381749 45381751 + In_Frame_Del DEL GAG GAG - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr19:45381749_45381751delGAG ENST00000252485.4 + 6 1663_1665 c.1312_1314delGAG c.(1312-1314)del p.E445del PVRL2_ENST00000252483.5_Intron NM_002856.2 NP_002847.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 504 adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) TGGCAaggatgaggaggaggagg 0.591 7 117 --- --- --- --- MAMSTR 284358 broad.mit.edu 37 19 49218105 49218106 + Frame_Shift_Ins INS - - G TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr19:49218105_49218106insG ENST00000318083.6 - 6 548_549 c.485_486insC c.(484-486)ccafs p.P162fs MAMSTR_ENST00000377367.3_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000419611.1_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000594582.1_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000356751.4_Frame_Shift_Ins_p.P59fs Q6ZN01 MASTR_HUMAN MEF2 activating motif and SAP domain containing transcriptional regulator 162 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(1)|ovary(1) 2 CCAACTTGTGTGGGGGGGGCGA 0.569 12 578 --- --- --- --- ZNF337 26152 broad.mit.edu 37 20 25657231 25657232 + Frame_Shift_Del DEL TG TG - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr20:25657231_25657232delTG ENST00000376436.1 - 4 1231_1232 c.692_693delCA c.(691-693)afs p.T231fs ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACTTCTCTCCTGTGTGTGTGTT 0.510 7 448 --- --- --- --- ZHX3 23051 broad.mit.edu 37 20 39832962 39832962 + Frame_Shift_Del DEL T T - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr20:39832962delT ENST00000309060.3 - 4 1010 c.595delA c.(595-597)ttfs p.I199fs ZHX3_ENST00000557816.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000559234.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000558993.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000432768.2_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000544979.2_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000560361.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000540170.1_Frame_Shift_Del_p.I199fs Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 199 negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) AGTGTATGAATTTTTTTGGCT 0.488 10 585 --- --- --- --- AP001604.3 0 broad.mit.edu 37 21 28793489 28793490 + RNA INS - - T rs144948060 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr21:28793489_28793490insT ENST00000420186.2 - 0 202 atttttttttcttttttttttt 0.347 9 16 --- --- --- --- LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661170 22661170 + RNA DEL T T - rs58170086 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr22:22661170delT ENST00000426066.1 + 0 262 NR_027293.1 AGCATACAGGTTTTCCCCCCC 0.403 8 147 --- --- --- --- C22orf43 51233 broad.mit.edu 37 22 23959767 23959769 + In_Frame_Del DEL CAT CAT - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr22:23959767_23959769delCAT ENST00000317749.5 - 7 809_811 c.512_514delATG c.(511-516)gcc>g p.DA171del NM_016449.3 NP_057533.2 Q6PGQ1 CV043_HUMAN chromosome 22 open reading frame 43 171 Asp-rich. endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1) 11 CTTACCTGGGcatcatcatcatc 0.433 13 333 --- --- --- --- TFIP11 24144 broad.mit.edu 37 22 26906183 26906185 + In_Frame_Del DEL TCA TCA - rs145794160 byFrequency TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr22:26906183_26906185delTCA ENST00000407690.1 - 4 337_339 c.54_56delTGA c.(52-57)gac>ga p.DD18del TFIP11_ENST00000407431.1_In_Frame_Del_p.DD18del|TFIP11_ENST00000407148.1_In_Frame_Del_p.DD18del|TFIP11_ENST00000405938.1_In_Frame_Del_p.DD18del NM_012143.2 NP_036275.1 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 18 Poly-Asp. biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 CTCCCGCTCGTCATCATCATCAT 0.532 7 468 --- --- --- --- RBM10 8241 broad.mit.edu 37 X 47030561 47030563 + In_Frame_Del DEL GGA GGA - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chrX:47030561_47030563delGGA ENST00000377604.3 + 4 1078_1080 c.336_338delGGA c.(334-339)ggg>gg p.GE112del RBM10_ENST00000329236.7_Intron|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Intron NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 112 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 CCGAGCAAGGggaggaggaggag 0.660 9 104 --- --- --- --- IRS4 8471 broad.mit.edu 37 X 107977802 107977803 + Frame_Shift_Ins INS - - C TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chrX:107977802_107977803insC ENST00000372129.2 - 1 1848_1849 c.1772_1773insG c.(1771-1773)gaafs p.E591fs NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 591 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 CTGAGCCTTTGCCCCCCCCAGA 0.545 9 858 --- --- --- --- SRPK3 26576 broad.mit.edu 37 X 153050878 153050892 + In_Frame_Del DEL CACAGTTCAGCGCCT CACAGTTCAGCGCCT - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chrX:153050878_153050892delCACAGTTCAGCGCCT ENST00000489426.1 + 21 4174_4188 c.1808_1822delCACAGTTCAGCGCCT c.(1807-1824)att>a p.TQFSAF603del SRPK3_ENST00000370108.3_In_Frame_Del_p.TQFSAF503del|SRPK3_ENST00000393786.3_In_Frame_Del_p.TQFSAF502del|SRPK3_ENST00000370104.1_In_Frame_Del_p.TQFSAF535del|SRPK3_ENST00000370101.3_In_Frame_Del_p.TQFSAF536del|SRPK3_ENST00000370100.1_In_Frame_Del_p.TQFSAF461del Q9UPE1 SRPK3_HUMAN SRSF protein kinase 3 536 cell differentiation|muscle organ development|muscle tissue development ATP binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1) 13 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GAGCAGGCCACACAGTTCAGCGCCTTTCTGCTGCC 0.628 101 224 --- --- --- --- F8 2157 broad.mit.edu 37 X 154157686 154157686 + Frame_Shift_Del DEL T T - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chrX:154157686delT ENST00000360256.4 - 14 4579 c.4379delA c.(4378-4380)atfs p.N1461fs NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1461 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 p.N1460fs*5(2)|p.N1460fs*2(2) 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) AGAAAGGTTATTTTTTTTGGC 0.413 11 339 --- --- --- ---