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 OBSCN 84033 broad.mit.edu 37 1 228528463 228528463 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:228528463C>T ENST00000570156.2 + 83 20516 c.20442C>T c.(20440-20442)tgC>tgT p.C6814C OBSCN_ENST00000284548.11_Silent_p.C5857C|OBSCN_ENST00000422127.1_Silent_p.C5857C|OBSCN_ENST00000366707.4_Silent_p.C3491C|OBSCN_ENST00000366709.4_Silent_p.C2976C NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 5857 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GACAGAACTGCGCGCTGCTGG 0.637000 6 22 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31625971 31625971 + Missense_Mutation SNP C C G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:31625971C>G ENST00000379416.3 - 3 188 c.140G>C c.(139-141)gGc>gCc p.G47A NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 47 2Fe-2S ferredoxin-type. purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) AGCCCCGCAGCCCCCCTCTCC 0.577000 23 136 0 0 1 0 0 NAA16 79612 broad.mit.edu 37 13 41943342 41943342 + Nonsense_Mutation SNP C C T rs77958839 TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr13:41943342C>T ENST00000379406.3 + 15 2194 c.1870C>T c.(1870-1872)Caa>Taa p.Q624* NAA16_ENST00000497143.1_3'UTR NM_024561.4 NP_078837.3 Q6N069 NAA16_HUMAN N(alpha)-acetyltransferase 16, NatA auxiliary subunit 624 N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent cytoplasm|transcription factor complex binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2) 31 acagaaaaatcaaaagaaaaa 0.353000 27 13 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120597670 120597670 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:120597670G>A ENST00000300648.6 - 24 2720 c.2708C>T c.(2707-2709)tCc>tTc p.S903F NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 903 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGCAGCCAAGGACAAGAAGGG 0.587000 31 92 0 0 1 0 0 IGHV4-39 28394 broad.mit.edu 37 14 106877714 106877714 + RNA SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:106877714G>A ENST00000390619.2 - 0 329 ATGGTGACTCGACTCTTGAGG 0.567000 44 90 0 0 1 0 0 TTLL6 284076 broad.mit.edu 37 17 46862498 46862498 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:46862498C>T ENST00000393382.3 - 13 1968 c.1827G>A c.(1825-1827)agG>agA p.R609R TTLL6_ENST00000433608.2_Silent_p.R302R NM_001130918.1 NP_001124390.1 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 561 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 TTTCATTTTTCCTTTCACCTC 0.517000 26 81 0 0 1 0 0 C19orf57 79173 broad.mit.edu 37 19 14000019 14000019 + Silent SNP G G A rs141570550 by1000genomes TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:14000019G>A ENST00000454313.1 - 6 1708 c.1650C>T c.(1648-1650)ttC>ttT p.F550F C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000586783.1_Silent_p.F550F|C19orf57_ENST00000346736.2_Silent_p.F550F Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 550 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) GTGGGGCTTCGAAGTCAGAGG 0.607000 10 42 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 96051635 96051635 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr9:96051635G>A ENST00000297954.4 + 20 4710 c.4710G>A c.(4708-4710)tcG>tcA p.S1570S WNK2_ENST00000349097.3_Silent_p.S1182S|WNK2_ENST00000395477.2_Silent_p.S1533S|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Silent_p.S1145S Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1570 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 CCCTGGAGTCGGATGGGGAAG 0.701000 5 37 0 0 1 0 0 STRN3 29966 broad.mit.edu 37 14 31382819 31382819 + Missense_Mutation SNP T T C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:31382819T>C ENST00000355683.5 - 8 1248 c.1033A>G c.(1033-1035)Atg>Gtg p.M345V STRN3_ENST00000366206.2_Intron|STRN3_ENST00000357479.5_Missense_Mutation_p.M429V NM_014574.3 NP_055389.3 Q13033 STRN3_HUMAN striatin, calmodulin binding protein 3 341 negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) TCAGAACCCATAATAAATGAC 0.383000 33 146 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23526679 23526679 + Missense_Mutation SNP G G T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:23526679G>T ENST00000296682.3 + 11 1664 c.1482G>T c.(1480-1482)atG>atT p.M494I NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 494 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AAAGAATAATGGAAGAAGAGT 0.443000 HNSCC(3;0.000094) 26 61 3.28513e-13 3.41006e-13 1 1 0 LRRC6 23639 broad.mit.edu 37 8 133673812 133673812 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr8:133673812C>T ENST00000519595.1 - 2 170 c.72G>A c.(70-72)gaG>gaA p.E24E LRRC6_ENST00000250173.1_Silent_p.E24E|LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000518642.1_Silent_p.E24E Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 24 cytoplasm breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) ACGAGAGTTCCTCCAGGGAAA 0.368000 8 35 0 0 1 0 0 DMTF1 9988 broad.mit.edu 37 7 86794313 86794313 + Missense_Mutation SNP T T G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:86794313T>G ENST00000394703.5 + 5 619 c.56T>G c.(55-57)gTg>gGg p.V19G DMTF1_ENST00000413276.2_Missense_Mutation_p.V19G|DMTF1_ENST00000432937.2_Intron|DMTF1_ENST00000331242.7_Missense_Mutation_p.V19G|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000411766.2_Missense_Mutation_p.V19G|DMTF1_ENST00000394702.3_Missense_Mutation_p.V19G NM_021145.3 NP_066968.3 Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 19 Interaction with CCND2 (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1) 16 Esophageal squamous(14;0.0058) GTGAACTCTGTGACTTTGACT 0.398000 10 28 0 0 1 0 0 SERPINI1 5274 broad.mit.edu 37 3 167512427 167512427 + Silent SNP C C G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:167512427C>G ENST00000295777.5 + 5 1127 c.696C>G c.(694-696)tcC>tcG p.S232S SERPINI1_ENST00000446050.2_Silent_p.S232S NM_005025.4 NP_005016.1 Q99574 NEUS_HUMAN serpin peptidase inhibitor, clade I (neuroserpin), member 1 232 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2) 20 GTGATGGCTCCAATGAAGCTG 0.403000 11 45 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65490771 65490771 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr15:65490771C>T ENST00000261883.4 - 9 2019 c.1853G>A c.(1852-1854)gGa>gAa p.G618E NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 618 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CTTCACTTTTCCTATGTAGGG 0.527000 39 100 0 0 1 0 0 TTC18 118491 broad.mit.edu 37 10 75095266 75095266 + Missense_Mutation SNP T T G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr10:75095266T>G ENST00000401621.2 - 8 929 c.809A>C c.(808-810)aAt>aCt p.N270T TTC18_ENST00000394865.1_Missense_Mutation_p.N270T|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000310715.3_Missense_Mutation_p.N270T Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 270 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) CTCTGCTTGATTCCTAAATTC 0.403000 12 14 0 0 1 0 0 OR8H2 390151 broad.mit.edu 37 11 55872999 55872999 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:55872999G>A ENST00000313503.1 + 1 481 c.481G>A c.(481-483)Gtt>Att p.V161I NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) TGTCAACGTGGTTTCCATGAG 0.428000 HNSCC(53;0.14) 43 139 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42797211 42797211 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:42797211C>T ENST00000572681.2 + 16 6362 c.6294C>T c.(6292-6294)tcC>tcT p.S2098S CIC_ENST00000160740.3_Silent_p.S1189S|CIC_ENST00000575354.2_Silent_p.S1191S Q96RK0 CIC_HUMAN capicua transcriptional repressor 1191 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CCGTGGGGTCCTTTGAGGCAG 0.677000 """Mis, F, S""" oligodendroglioma 23 23 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37882009 37882009 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:37882009G>A ENST00000406381.2 + 25 3195 c.2685G>A c.(2683-2685)ggG>ggA p.G895G ERBB2_ENST00000541774.1_Silent_p.G910G|ERBB2_ENST00000540147.1_Silent_p.G895G|ERBB2_ENST00000269571.5_Silent_p.G925G|ERBB2_ENST00000445658.2_Silent_p.G649G|ERBB2_ENST00000584450.1_Silent_p.G925G|ERBB2_ENST00000584601.1_Silent_p.G895G NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 925 Protein kinase. cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CTTACGATGGGATCCCAGCCC 0.577000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 29 28 0 0 1 0 0 ATP2B3 492 broad.mit.edu 37 X 152823641 152823641 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:152823641C>T ENST00000370186.1 + 15 2789 c.2463C>T c.(2461-2463)atC>atT p.I821I ATP2B3_ENST00000359149.3_Silent_p.I835I|ATP2B3_ENST00000349466.2_Silent_p.I835I|ATP2B3_ENST00000263519.4_Silent_p.I835I|ATP2B3_ENST00000393842.1_Silent_p.I821I|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000370181.2_Silent_p.I821I Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 835 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCACCAGCATCGTCAAGGCAG 0.572000 108 35 0 0 1 0 0 LAMP5 24141 broad.mit.edu 37 20 9498876 9498876 + Splice_Site SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr20:9498876G>A ENST00000246070.2 + 5 1156 c.e5+1 LAMP5_ENST00000427562.2_Splice_Site NM_012261.3 NP_036393.1 Q9UJQ1 CT103_HUMAN lysosomal-associated membrane protein family, member 5 integral to membrane TTCAGTGAAGGTAAGTTGTTG 0.493000 20 14 0 0 1 0 0 RASAL2 9462 broad.mit.edu 37 1 178411872 178411872 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:178411872C>T ENST00000448150.3 + 8 1754 c.936C>T c.(934-936)gcC>gcT p.A312A RASAL2_ENST00000462775.1_Silent_p.A182A|RASAL2_ENST00000367649.3_Silent_p.A330A NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 182 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 AGGACCTTGCCCCTAAAAAGA 0.428000 52 66 0 0 1 0 0 CGREF1 10669 broad.mit.edu 37 2 27325020 27325020 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:27325020G>A ENST00000402394.1 - 5 555 c.287C>T c.(286-288)tCc>tTc p.S96F CGREF1_ENST00000404694.3_Missense_Mutation_p.S218F|CGREF1_ENST00000312734.4_Missense_Mutation_p.S96F|CGREF1_ENST00000402550.1_Missense_Mutation_p.S96F|CGREF1_ENST00000452318.2_5'UTR|CGREF1_ENST00000260595.5_Missense_Mutation_p.S96F|CGREF1_ENST00000405600.1_Missense_Mutation_p.S96F NM_006569.5 NP_006560.3 Q99674 CGRE1_HUMAN cell growth regulator with EF-hand domain 1 96 EF-hand 1. cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress extracellular region calcium ion binding kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGTCAACATGGACAGCAGCTC 0.552000 13 48 0 0 1 0 0 CYP26A1 1592 broad.mit.edu 37 10 94834291 94834291 + Splice_Site SNP T T C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr10:94834291T>C ENST00000371531.1 + 2 585 c.e2+2 CYP26A1_ENST00000394139.1_Splice_Site|CYP26A1_ENST00000224356.4_Splice_Site NM_057157.2 NP_476498.1 O43174 CP26A_HUMAN cytochrome P450, family 26, subfamily A, polypeptide 1 negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 Colorectal(252;0.122) CGCAAGAAGGTGGGGGCAGGA 0.647000 75 176 0 0 1 0 0 TRIM55 84675 broad.mit.edu 37 8 67047244 67047244 + Nonsense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr8:67047244C>T ENST00000315962.4 + 3 734 c.361C>T c.(361-363)Cag>Tag p.Q121* TRIM55_ENST00000350034.4_Nonsense_Mutation_p.Q121*|TRIM55_ENST00000276573.7_Nonsense_Mutation_p.Q121*|TRIM55_ENST00000353317.5_Nonsense_Mutation_p.Q121* NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 121 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) GAAATCCGACCAGCCCATGTG 0.522000 28 34 0 0 1 0 0 PHLDB1 23187 broad.mit.edu 37 11 118502657 118502657 + Nonsense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:118502657C>T ENST00000361417.2 + 9 2539 c.2128C>T c.(2128-2130)Cag>Tag p.Q710* PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Nonsense_Mutation_p.Q710* NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 710 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) CACCAAGCTCCAGGGAGAGGT 0.567000 4 126 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77762249 77762249 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:77762249G>A ENST00000354212.4 - 18 3413 c.3160C>T c.(3160-3162)Cca>Tca p.P1054S MAGI2_ENST00000419488.1_Missense_Mutation_p.P1040S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P1054S NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 1054 Pro-rich. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) GGTGGTGCTGGCTGGGCGATG 0.582000 103 475 0 0 1 0 0 ZNF486 90649 broad.mit.edu 37 19 20295164 20295164 + Splice_Site SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:20295164G>A ENST00000335117.8 + 2 87 c.e2-1 ZNF486_ENST00000597083.1_Splice_Site|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA NM_052852.3 NP_443084.2 Q96H40 ZN486_HUMAN zinc finger protein 486 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 GTGTTTTTCAGGAATCATTGC 0.393000 63 262 0 0 1 0 0 LILRA4 23547 broad.mit.edu 37 19 54848942 54848942 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:54848942C>T ENST00000291759.4 - 5 737 c.681G>A c.(679-681)ctG>ctA p.L227L NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 227 Ig-like C2-type 3. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) CCTGCAGGGTCAGGAGGGAGG 0.617000 18 41 0 0 1 0 0 C6orf15 29113 broad.mit.edu 37 6 31079682 31079682 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:31079682G>A ENST00000259870.3 - 2 457 c.454C>T c.(454-456)Cct>Tct p.P152S NM_014070.2 NP_054789.2 Q6UXA7 CF015_HUMAN chromosome 6 open reading frame 15 152 endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1) 17 GACTCCCCAGGCAAAGGGCCA 0.642000 23 64 0 0 1 0 0 ALPPL2 251 broad.mit.edu 37 2 233272081 233272081 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:233272081G>A ENST00000295453.3 + 3 322 c.270G>A c.(268-270)atG>atA p.M90I NM_031313.2 NP_112603.2 P10696 PPBN_HUMAN alkaline phosphatase, placental-like 2 90 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1) 13 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) TCCTGGCCATGGACCGCTTCC 0.572000 12 65 0 0 1 0 0 GIT1 28964 broad.mit.edu 37 17 27904665 27904665 + Nonsense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:27904665G>A ENST00000225394.3 - 10 1227 c.979C>T c.(979-981)Cag>Tag p.Q327* GIT1_ENST00000394869.3_Nonsense_Mutation_p.Q336*|GIT1_ENST00000581348.1_Nonsense_Mutation_p.Q336*|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Nonsense_Mutation_p.Q327* NM_014030.3 NP_054749.2 Q9Y2X7 GIT1_HUMAN G protein-coupled receptor kinase interacting ArfGAP 1 327 ARHGEF6-binding (By similarity).|PTK2-binding (By similarity). regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|focal adhesion ARF GTPase activator activity|protein binding|zinc ion binding large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069) CCCCTCACCTGATTCCGCGTG 0.632000 76 67 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42797210 42797210 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:42797210C>T ENST00000572681.2 + 16 6361 c.6293C>T c.(6292-6294)tCc>tTc p.S2098F CIC_ENST00000160740.3_Missense_Mutation_p.S1189F|CIC_ENST00000575354.2_Missense_Mutation_p.S1191F Q96RK0 CIC_HUMAN capicua transcriptional repressor 1191 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CCCGTGGGGTCCTTTGAGGCA 0.677000 """Mis, F, S""" oligodendroglioma 24 23 0 0 1 0 0 ALAS2 212 broad.mit.edu 37 X 55052314 55052314 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:55052314G>A ENST00000330807.5 - 2 257 c.120C>T c.(118-120)atC>atT p.I40I ALAS2_ENST00000396198.3_Silent_p.I64I|ALAS2_ENST00000335854.4_Silent_p.I40I NM_000032.4 NP_000023.2 P22557 HEM0_HUMAN aminolevulinate, delta-, synthase 2 40 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 Glycine(DB00145) GGGTAGCCAGGATGGGACAGC 0.542000 13 32 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10247210 10247210 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:10247210C>T ENST00000418404.3 - 15 1964 c.1801G>A c.(1801-1803)Gac>Aac p.D601N MYH13_ENST00000570743.1_Missense_Mutation_p.D601N|MYH13_ENST00000252172.4_Missense_Mutation_p.D601N Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 601 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TTCAGGGGGTCCTTGTTTTTG 0.552000 38 34 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164735407 164735407 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:164735407G>A ENST00000264382.3 - 31 3750 c.3688C>T c.(3688-3690)Cgt>Tgt p.R1230C NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1230 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TATCCATAACGACATAATTGG 0.353000 HNSCC(35;0.089) 24 45 0 0 1 0 0 SEC23A 10484 broad.mit.edu 37 14 39543653 39543653 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:39543653G>A ENST00000537403.1 - 5 1665 c.463C>T c.(463-465)Ctc>Ttc p.L155F SEC23A_ENST00000545328.2_Missense_Mutation_p.L328F|SEC23A_ENST00000536508.1_Missense_Mutation_p.L231F|SEC23A_ENST00000307712.6_Missense_Mutation_p.L357F Q15436 SC23A_HUMAN Sec23 homolog A (S. cerevisiae) 357 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) ATCTCCAGGAGACCTGTCTGA 0.348000 37 162 0 0 1 0 0 OR2T6 254879 broad.mit.edu 37 1 248551136 248551136 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:248551136C>T ENST00000355728.2 + 1 227 c.227C>T c.(226-228)aCc>aTc p.T76I NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 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;0.0265) TACATCTCCACCATTGTGCCC 0.507000 67 44 0 0 1 0 0 NFIB 4781 broad.mit.edu 37 9 14307321 14307321 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr9:14307321G>A ENST00000380959.3 - 2 702 c.229C>T c.(229-231)Ctt>Ttt p.L77F NFIB_ENST00000380921.3_Missense_Mutation_p.L77F|NFIB_ENST00000380953.1_Missense_Mutation_p.L77F|NFIB_ENST00000397581.2_Missense_Mutation_p.L77F|NFIB_ENST00000380934.4_Missense_Mutation_p.L103F|NFIB_ENST00000397579.2_Missense_Mutation_p.L77F|NFIB_ENST00000397575.3_Missense_Mutation_p.L77F NM_005596.3 NP_005587.2 O00712 NFIB_HUMAN nuclear factor I/B 77 anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) AGTTTGGCAAGGAGCCTGGAT 0.483000 T """MYB, HGMA2""" """adenoid cystic carcinoma, lipoma""" 18 92 0 0 1 0 0 OR52I1 390037 broad.mit.edu 37 11 4615507 4615507 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:4615507C>T ENST00000450052.2 + 2 311 c.311C>T c.(310-312)tCc>tTc p.S104F OR52I1_ENST00000530443.2_Missense_Mutation_p.S80F Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, member 1 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S105F(2) central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 15 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGGCCTCCTCCGTGGTACCC 0.502000 27 71 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157505554 157505554 + Nonsense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:157505554C>T ENST00000346085.5 + 13 3536 c.3535C>T c.(3535-3537)Cag>Tag p.Q1179* ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q1219*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q1166*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q1161* NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1166 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GCCCAAGCTCCAGCCGCCATC 0.617000 16 39 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167085475 167085475 + Missense_Mutation SNP A A C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:167085475A>C ENST00000375387.4 - 22 4275 c.3935T>G c.(3934-3936)gTg>gGg p.V1312G SCN9A_ENST00000409672.1_Missense_Mutation_p.V1300G|SCN9A_ENST00000409435.1_Missense_Mutation_p.V1311G|SCN9A_ENST00000303354.6_Missense_Mutation_p.V1312G|AC010127.3_ENST00000447809.2_RNA Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1311 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) GAGTGCATTCACAACGACCTA 0.348000 22 66 0 0 1 0 0 EHHADH 1962 broad.mit.edu 37 3 184910508 184910508 + Missense_Mutation SNP G G T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:184910508G>T ENST00000231887.3 - 7 1753 c.1678C>A c.(1678-1680)Cca>Aca p.P560T EHHADH_ENST00000456310.1_Missense_Mutation_p.P464T NM_001166415.1|NM_001966.3 NP_001159887.1|NP_001957.2 Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 560 3-hydroxyacyl-CoA dehydrogenase. peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) TCAGGAATTGGGCAGTACCTC 0.478000 34 63 1.22384e-17 1.29059e-17 1 1 0 TJP1 7082 broad.mit.edu 37 15 30008956 30008956 + Missense_Mutation SNP T T C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr15:30008956T>C ENST00000346128.6 - 23 4535 c.4061A>G c.(4060-4062)tAt>tGt p.Y1354C TJP1_ENST00000400011.2_Missense_Mutation_p.Y1278C|TJP1_ENST00000545208.2_Missense_Mutation_p.Y1274C|TJP1_ENST00000356107.6_Missense_Mutation_p.Y1354C NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 1354 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) TTTTCGATAATATTCTTCATC 0.448000 25 28 0 0 1 0 0 DHX34 9704 broad.mit.edu 37 19 47879795 47879795 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:47879795C>T ENST00000328771.4 + 12 2926 c.2577C>T c.(2575-2577)gcC>gcT p.A859A NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 859 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) AGCTGGAGGCCAGCAACTGCG 0.672000 4 4 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56531747 56531747 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:56531747C>T ENST00000390649.3 + 6 629 c.629C>T c.(628-630)tCa>tTa p.S210L NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 210 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GCAGAAATTTCACAAGCTATG 0.408000 25 25 0 0 1 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417988 150417988 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:150417988C>T ENST00000307194.5 + 3 1036 c.896C>T c.(895-897)gCc>gTc p.A299V NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGGTCGGAGGCCGTTGCGGAG 0.617000 21 25 0 0 1 0 0 MGLL 11343 broad.mit.edu 37 3 127429458 127429458 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:127429458C>T ENST00000434178.2 - 6 1427 c.531G>A c.(529-531)ggG>ggA p.G177G MGLL_ENST00000476682.1_5'UTR|MGLL_ENST00000453507.2_Intron|MGLL_ENST00000265052.5_Silent_p.G187G|MGLL_ENST00000398104.1_Silent_p.G177G|MGLL_ENST00000398101.3_Silent_p.G151G Q99685 MGLL_HUMAN monoglyceride lipase 177 arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process plasma membrane acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 6 AGTCGATGGGCCCGAGGGACA 0.592000 3 6 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73062598 73062598 + RNA SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:73062598G>A ENST00000429829.1 - 0 9990 NR_001564.2 CAAGAGAAAGGGCCTTGTCTG 0.468000 20 9 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169511239 169511239 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:169511239C>T ENST00000367796.3 - 13 3305 c.3104G>A c.(3103-3105)cGa>cAa p.R1035Q F5_ENST00000367797.3_Missense_Mutation_p.R1030Q P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1030 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TTTCTTTTTTCGTGTCTTAAT 0.408000 52 302 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140277662 140277662 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:140277662C>T ENST00000458420.3 + 12 2194 c.2004C>T c.(2002-2004)ttC>ttT p.F668F NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 668 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 TGAGCACCTTCGCCAAAACCG 0.532000 HNSCC(16;0.037) 18 68 0 0 1 0 0 TMEM183A 92703 broad.mit.edu 37 1 202984110 202984110 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:202984110C>T ENST00000367242.3 + 4 541 c.461C>T c.(460-462)tCc>tTc p.S154F TMEM183A_ENST00000468449.1_3'UTR NM_001079809.1|NM_138391.4 NP_001073277.1|NP_612400.3 transmembrane protein 183A endometrium(1)|large_intestine(2)|lung(1)|skin(3) 7 BRCA - Breast invasive adenocarcinoma(75;0.18) GTGAATTTTTCCCTGATTTGT 0.488000 8 35 0 0 1 0 0 IRF5 3663 broad.mit.edu 37 7 128582271 128582271 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:128582271C>T ENST00000402030.2 + 2 208 c.136C>T c.(136-138)Ccc>Tcc p.P46S IRF5_ENST00000477535.1_Missense_Mutation_p.P46S|IRF5_ENST00000473745.1_Missense_Mutation_p.P46S|IRF5_ENST00000249375.4_Missense_Mutation_p.P46S|IRF5_ENST00000357234.5_Missense_Mutation_p.P46S NM_001098629.1|NM_001098630.1 NP_001092099.1|NP_001092100.1 Q13568 IRF5_HUMAN interferon regulatory factor 5 46 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1) 15 ATTCTGCATCCCCTGGAGGCA 0.617000 66 83 0 0 1 0 0 BCKDHB 594 broad.mit.edu 37 6 80877487 80877487 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:80877487G>A ENST00000545529.1 + 4 464 c.436G>A c.(436-438)Gaa>Aaa p.E146K BCKDHB_ENST00000369760.4_Missense_Mutation_p.E146K|BCKDHB_ENST00000356489.5_Missense_Mutation_p.E146K|BCKDHB_ENST00000320393.6_Missense_Mutation_p.E146K P21953 ODBB_HUMAN branched chain keto acid dehydrogenase E1, beta polypeptide 146 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1) 15 all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149) BRCA - Breast invasive adenocarcinoma(397;0.0291) TGCCATTGCGGAAATTCAGTT 0.363000 20 13 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33147552 33147552 + Missense_Mutation SNP C C G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:33147552C>G ENST00000341947.2 - 13 1617 c.1390G>C c.(1390-1392)Ggc>Cgc p.G464R COL11A2_ENST00000374708.4_Missense_Mutation_p.G378R|COL11A2_ENST00000374713.1_Missense_Mutation_p.G417R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G357R|COL11A2_ENST00000374712.1_Missense_Mutation_p.G383R|COL11A2_ENST00000395197.1_Missense_Mutation_p.G404R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G438R|COL11A2_ENST00000357486.1_Missense_Mutation_p.G443R NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 464 Nonhelical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 ACCACAGGGCCCTTGTCACCC 0.642000 12 93 0 0 1 0 0 MCM7 4176 broad.mit.edu 37 7 99690928 99690928 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:99690928C>T ENST00000303887.5 - 14 2590 c.1945G>A c.(1945-1947)Ggg>Agg p.G649R MCM7_ENST00000354230.3_Missense_Mutation_p.G473R|MCM7_ENST00000343023.6_Intron NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 649 Interaction with ATRIP. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) GCTGTCTGCCCCTTGTCTCCT 0.483000 36 224 0 0 1 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71549961 71549961 + Splice_Site SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr9:71549961G>A ENST00000265382.3 + 13 1662 c.1357_splice c.e13+1 p.A453_splice PIP5K1B_ENST00000541509.1_Splice_Site_p.A453_splice NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 453 endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) TGATGAAGAAGGTAAAGATAT 0.343000 23 76 0 0 1 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141310678 141310678 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr8:141310678C>T ENST00000389328.4 - 11 1966 c.1952G>A c.(1951-1953)cGg>cAg p.R651Q TRAPPC9_ENST00000438773.2_Missense_Mutation_p.R553Q|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.R544Q NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 553 cell differentiation endoplasmic reticulum|Golgi apparatus p.R651Q(2) breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 TTTGTGTGGCCGGAGGCTAGC 0.438000 28 96 0 0 1 0 0 ULBP3 79465 broad.mit.edu 37 6 150387045 150387045 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:150387045G>A ENST00000367339.1 - 2 370 c.342C>T c.(340-342)ttC>ttT p.F114F ULBP3_ENST00000438272.2_Silent_p.F114F Q9BZM4 N2DL3_HUMAN UL16 binding protein 3 114 MHC class I alpha-1 like. antigen processing and presentation|immune response|natural killer cell activation anchored to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 9 Ovarian(120;0.12) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.45e-12) CACTGGGTGTGAAATCCTCCA 0.542000 24 75 0 0 1 0 0 SP5 389058 broad.mit.edu 37 2 171572790 171572790 + Missense_Mutation SNP C C A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:171572790C>A ENST00000375281.3 + 2 235 c.73C>A c.(73-75)Ccg>Acg p.P25T SP5_ENST00000487037.1_3'UTR NM_001003845.2 NP_001003845.1 Q6BEB4 SP5_HUMAN Sp5 transcription factor 25 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|lung(1)|prostate(1) 5 CAGCGCCTCCCCGGACCTGGG 0.741000 14 86 0.00316338 0.00319089 1 1 0 PLCXD2 257068 broad.mit.edu 37 3 111432904 111432904 + Silent SNP G G A rs61755448 TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:111432904G>A ENST00000393934.3 + 3 1365 c.795G>A c.(793-795)gcG>gcA p.A265A PLCXD2_ENST00000472215.1_3'UTR|PLCXD2_ENST00000477665.1_Silent_p.A265A NM_153268.3 NP_695000.1 Q0VAA5 PLCX2_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 2 265 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1) 17 TCTCCCAAGCGATCCTCACCC 0.572000 51 60 0 0 1 0 0 HTR1D 3352 broad.mit.edu 37 1 23520188 23520188 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:23520188G>A ENST00000374619.1 - 1 1034 c.525C>T c.(523-525)ttC>ttT p.F175F HTR1D_ENST00000314113.3_Silent_p.F175F NM_000864.4 NP_000855.1 P28221 5HT1D_HUMAN 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled 175 G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission integral to plasma membrane serotonin receptor activity NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185) Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315) CCTGCCGCCAGAAGAGCGGGG 0.592000 19 60 0 0 1 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48917423 48917423 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:48917423C>T ENST00000311378.4 + 2 1302 c.774C>T c.(772-774)aaC>aaT p.N258N WFIKKN2_ENST00000426127.1_Silent_p.N165N|RP11-506D12.5_ENST00000572491.2_RNA NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 258 Ig-like C2-type. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) TGCGGCCCAACCATGTGCGTG 0.607000 21 67 0 0 1 0 0 EXOSC9 5393 broad.mit.edu 37 4 122728717 122728717 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr4:122728717C>T ENST00000512454.1 + 5 713 c.497C>T c.(496-498)cCt>cTt p.P166L EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000379663.3_Missense_Mutation_p.P182L|EXOSC9_ENST00000243498.5_Missense_Mutation_p.P182L Q06265 EXOS9_HUMAN exosome component 9 182 ARE binding. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1) 16 GAGCGTGATCCTGTACCATTA 0.363000 37 45 0 0 1 0 0 ADCK2 90956 broad.mit.edu 37 7 140374051 140374051 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:140374051C>T ENST00000072869.4 + 1 1099 c.921C>T c.(919-921)tcC>tcT p.S307S ADCK2_ENST00000476491.1_Silent_p.S307S NM_052853.3 NP_443085.2 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 307 Protein kinase. S -> P (in dbSNP:rs1140034). integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) ACCTCATCTCCGTGGCAGTGA 0.552000 23 98 0 0 1 0 0 MAGOHB 55110 broad.mit.edu 37 12 10766047 10766047 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:10766047G>A ENST00000320756.2 - 1 175 c.85C>T c.(85-87)Cgg>Tgg p.R29W MAGOHB_ENST00000381881.2_Missense_Mutation_p.R29W|MAGOHB_ENST00000539554.1_Intron NM_018048.3 NP_060518.1 Q96A72 MGN2_HUMAN mago-nashi homolog B (Drosophila) 29 mRNA processing|mRNA transport|RNA splicing nucleus RNA binding breast(2)|large_intestine(2) 4 CCGTCCGGCCGAAATTCGAAC 0.617000 34 110 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175678 140175678 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:140175678C>T ENST00000526136.1 + 1 1129 c.1129C>T c.(1129-1131)Cgc>Tgc p.R377C PCDHA2_ENST00000520672.2_Missense_Mutation_p.R377C|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R377C|PCDHA1_ENST00000504120.2_Intron NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGTCGGATCGCGACTCTGG 0.522000 41 85 0 0 1 0 0 GNAI2 2771 broad.mit.edu 37 3 50290580 50290580 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:50290580G>A ENST00000313601.6 + 4 812 c.428G>A c.(427-429)cGc>cAc p.R143H GNAI2_ENST00000266027.5_Missense_Mutation_p.R127H|GNAI2_ENST00000440628.1_Missense_Mutation_p.R91H|GNAI2_ENST00000536647.1_Missense_Mutation_p.R62H|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000422163.1_Missense_Mutation_p.R127H|GNAI2_ENST00000451956.1_Missense_Mutation_p.R106H NM_002070.2 NP_002061.1 P04899 GNAI2_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 143 adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity p.R143H(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651) TGCTTTGGCCGCTCAAGGGAA 0.657000 5 342 0 0 1 0 0 REPS1 85021 broad.mit.edu 37 6 139265137 139265137 + Nonsense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:139265137G>A ENST00000450536.2 - 6 1343 c.769C>T c.(769-771)Cga>Tga p.R257* REPS1_ENST00000367663.4_Nonsense_Mutation_p.R257*|REPS1_ENST00000409812.2_Nonsense_Mutation_p.R257*|REPS1_ENST00000258062.5_Nonsense_Mutation_p.R257*|REPS1_ENST00000415951.2_Nonsense_Mutation_p.R257* Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 257 coated pit|plasma membrane calcium ion binding|SH3 domain binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 19 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) GCTACAGTTCGTACTGTTGTC 0.358000 23 18 0 0 1 0 0 SLC27A3 11000 broad.mit.edu 37 1 153749147 153749147 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:153749147C>T ENST00000271857.2 + 2 1965 c.1205C>T c.(1204-1206)tCt>tTt p.S402F SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000368661.3_Missense_Mutation_p.S321F Q5K4L6 S27A3_HUMAN solute carrier family 27 (fatty acid transporter), member 3 321 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGATACCTCTCTTCCCCCCAG 0.597000 37 72 0 0 1 0 0 TEX101 83639 broad.mit.edu 37 19 43922110 43922110 + Missense_Mutation SNP C C A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:43922110C>A ENST00000602198.1 + 7 968 c.526C>A c.(526-528)Ccc>Acc p.P176T TEX101_ENST00000598265.1_Missense_Mutation_p.P158T|TEX101_ENST00000253435.7_Missense_Mutation_p.P176T|TEX101_ENST00000601707.1_3'UTR NM_031451.4 NP_113639.4 Q9BY14 TX101_HUMAN testis expressed 101 158 anchored to membrane|plasma membrane large_intestine(1)|lung(12)|ovary(1)|skin(1) 15 Prostate(69;0.0199) TCTTCCCTGTCCCAATGGTAC 0.463000 35 149 6.53348e-20 6.95306e-20 1 1 0 ANTXR2 118429 broad.mit.edu 37 4 80990644 80990644 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr4:80990644G>A ENST00000403729.2 - 3 767 c.242C>T c.(241-243)tCt>tTt p.S81F ANTXR2_ENST00000404191.1_Missense_Mutation_p.S4F|ANTXR2_ENST00000307333.7_Missense_Mutation_p.S81F|ANTXR2_ENST00000346652.6_Missense_Mutation_p.S81F|ANTXR2_ENST00000295465.4_Missense_Mutation_p.S81F NM_058172.5 NP_477520.2 P58335 ANTR2_HUMAN anthrax toxin receptor 2 81 VWFA. endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane metal ion binding|protein binding|receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 13 CACAATGAAAGATAATCTCAT 0.323000 Juvenile Hyaline Fibromatosis 4 11 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8421183 8421183 + Missense_Mutation SNP A A G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:8421183A>G ENST00000337907.3 - 19 3018 c.2384T>C c.(2383-2385)gTt>gCt p.V795A RERE_ENST00000476556.1_Missense_Mutation_p.V241A|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.V795A|RERE_ENST00000377464.1_Missense_Mutation_p.V527A NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 795 Pro-rich. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) GGTGTGGGGAACAGGCGCTGT 0.731000 2 2 0 0 1 0 0 SLC17A8 246213 broad.mit.edu 37 12 100813813 100813813 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:100813813G>A ENST00000323346.5 + 12 1959 c.1646G>A c.(1645-1647)gGa>gAa p.G549E SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.G499E NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 549 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 ATGTCTTATGGAGCCACCTCC 0.463000 17 30 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69104733 69104733 + Missense_Mutation SNP T T C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr8:69104733T>C ENST00000288368.4 + 37 4854 c.4577T>C c.(4576-4578)aTc>aCc p.I1526T NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1526 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GCCTGCCACATCATCATGTGC 0.522000 8 37 0 0 1 0 0 C4orf50 389197 broad.mit.edu 37 4 5990146 5990146 + Silent SNP C C T rs142834094 by1000genomes TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr4:5990146C>T ENST00000531445.1 - 1 1399 c.1353G>A c.(1351-1353)gaG>gaA p.E451E C4orf50_ENST00000324058.5_5'UTR Q6ZRC1 CD050_HUMAN chromosome 4 open reading frame 50 0 breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1) 15 TCTCCTCTTTCTCCAAATGTG 0.537000 10 9 0 0 1 0 0 PRMT5 10419 broad.mit.edu 37 14 23392335 23392335 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:23392335G>A ENST00000324366.8 - 13 1633 c.1410C>T c.(1408-1410)tcC>tcT p.S470S PRMT5_ENST00000216350.8_Silent_p.S409S|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000553897.1_Silent_p.S426S|PRMT5_ENST00000397440.4_Silent_p.S299S|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000538452.1_Silent_p.S364S|PRMT5_ENST00000397441.2_Silent_p.S453S|PRMT5-AS1_ENST00000599580.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000457443.1_RNA|PRMT5-AS1_ENST00000595662.1_RNA NM_006109.3 NP_006100.2 O14744 ANM5_HUMAN protein arginine methyltransferase 5 470 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 25 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) GAGCCAGAAAGGAAGTGTACT 0.517000 6 22 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1263073 1263073 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:1263073G>A ENST00000447027.1 + 31 5030 c.4972G>A c.(4972-4974)Gaa>Aaa p.E1658K MUC5B_ENST00000529681.1_Missense_Mutation_p.E1655K Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1655 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CACCCTCTCAGAAGGACTGAC 0.667000 6 19 0 0 1 0 0 IGSF22 283284 broad.mit.edu 37 11 18738549 18738549 + Splice_Site SNP T T C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:18738549T>C ENST00000513874.1 - 10 1113 c.e10-2 RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 GTGGCTCATCTGCAGCAAACA 0.562000 20 44 0 0 1 0 0 SENP2 59343 broad.mit.edu 37 3 185339635 185339635 + Missense_Mutation SNP T T G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:185339635T>G ENST00000296257.5 + 14 1708 c.1468T>G c.(1468-1470)Tgt>Ggt p.C490G SENP2_ENST00000545472.1_Missense_Mutation_p.C480G|SENP2_ENST00000427465.2_Missense_Mutation_p.C314G NM_021627.2 NP_067640.2 Q9HC62 SENP2_HUMAN SUMO1/sentrin/SMT3 specific peptidase 2 490 Protease. mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway cytoplasm|nuclear membrane|nuclear pore protein binding|SUMO-specific protease activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3) 12 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) AAGAAAAAAGTGTCTTAAATA 0.363000 8 36 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48346683 48346683 + Missense_Mutation SNP T T C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:48346683T>C ENST00000319856.4 + 1 212 c.191T>C c.(190-192)gTt>gCt p.V64A NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 GTGGTCACGGTTTGTGGCAAC 0.463000 5 79 0 0 1 0 0 GJA8 2703 broad.mit.edu 37 1 147380991 147380991 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:147380991G>A ENST00000240986.4 + 2 962 c.909G>A c.(907-909)aaG>aaA p.K303K GJA8_ENST00000369235.1_Silent_p.K303K NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 303 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) TCGAGGAGAAGATCAGCACAG 0.587000 23 29 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197446863 197446863 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:197446863C>T ENST00000367400.3 + 12 4210 c.4075C>T c.(4075-4077)Ctc>Ttc p.L1359F CRB1_ENST00000544212.1_Missense_Mutation_p.L840F|CRB1_ENST00000535699.1_Missense_Mutation_p.L1335F|CRB1_ENST00000367399.2_Missense_Mutation_p.L1247F|CRB1_ENST00000538660.1_Missense_Mutation_p.L823F NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1359 cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 GTTACTGATCCTCTTGCTGGC 0.507000 59 32 0 0 1 0 0 KCNJ13 3769 broad.mit.edu 37 2 233633146 233633146 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:233633146C>T ENST00000233826.3 - 3 977 c.838G>A c.(838-840)Gaa>Aaa p.E280K KCNJ13_ENST00000410029.1_Missense_Mutation_p.E280K|KCNJ13_ENST00000409779.1_3'UTR|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000409480.1_Intron NM_002242.4 NP_002233.2 O60928 IRK13_HUMAN potassium inwardly-rectifying channel, subfamily J, member 13 280 voltage-gated potassium channel complex inward rectifier potassium channel activity endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1) 9 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908) Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617) TGGCATATTTCTCCAGTGCCC 0.433000 38 155 0 0 1 0 0 CAST 831 broad.mit.edu 37 5 96011259 96011259 + Missense_Mutation SNP C C A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:96011259C>A ENST00000395813.1 + 2 278 c.92C>A c.(91-93)aCc>aAc p.T31N CAST_ENST00000338252.3_5'UTR|CAST_ENST00000508608.1_Missense_Mutation_p.T16N|CAST_ENST00000510756.1_Missense_Mutation_p.T31N|CAST_ENST00000325674.7_Missense_Mutation_p.T31N|CAST_ENST00000395812.2_Missense_Mutation_p.T31N|CAST_ENST00000359176.4_Missense_Mutation_p.T31N|CAST_ENST00000508830.1_Missense_Mutation_p.T31N P20810 ICAL_HUMAN calpastatin 96 calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 22 all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;6.85e-15) AGTGAAAAAACCAGTGAATCG 0.348000 14 49 3.41278e-10 3.50339e-10 1 1 0 GMFG 9535 broad.mit.edu 37 19 39819581 39819581 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:39819581C>T ENST00000598034.1 - 6 445 c.416G>A c.(415-417)tGa>tAa p.*139* GMFG_ENST00000594700.1_Intron|GMFG_ENST00000601387.1_Intron|GMFG_ENST00000602185.1_Intron|GMFG_ENST00000595636.1_Intron|GMFG_ENST00000600322.1_Intron|GMFG_ENST00000597595.1_Intron|GMFG_ENST00000253054.8_Intron O60234 GMFG_HUMAN glia maturation factor, gamma 0 ADF-H. protein phosphorylation intracellular actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1) 10 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) CCTCTTCCCTCAGACCCAGGA 0.512000 22 38 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33147551 33147551 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:33147551C>T ENST00000341947.2 - 13 1618 c.1391G>A c.(1390-1392)gGc>gAc p.G464D COL11A2_ENST00000374708.4_Missense_Mutation_p.G378D|COL11A2_ENST00000374713.1_Missense_Mutation_p.G417D|COL11A2_ENST00000361917.1_Missense_Mutation_p.G357D|COL11A2_ENST00000374712.1_Missense_Mutation_p.G383D|COL11A2_ENST00000395197.1_Missense_Mutation_p.G404D|COL11A2_ENST00000374714.1_Missense_Mutation_p.G438D|COL11A2_ENST00000357486.1_Missense_Mutation_p.G443D NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 464 Nonhelical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CACCACAGGGCCCTTGTCACC 0.647000 11 94 0 0 1 0 0 FBLIM1 54751 broad.mit.edu 37 1 16091674 16091674 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:16091674C>T ENST00000375766.3 + 3 836 c.196C>T c.(196-198)Cct>Tct p.P66S FBLIM1_ENST00000375771.1_Missense_Mutation_p.P66S|FBLIM1_ENST00000441801.2_Missense_Mutation_p.P66S|FBLIM1_ENST00000400773.1_Missense_Mutation_p.P66S|FBLIM1_ENST00000332305.5_Missense_Mutation_p.P66S NM_017556.2 NP_060026.2 Q8WUP2 FBLI1_HUMAN filamin binding LIM protein 1 66 Filamin-binding.|Pro-rich. cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle zinc ion binding large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 16 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138) CTGGACAACCCCTGGCAGAGC 0.667000 14 48 0 0 1 0 0 BCL9L 283149 broad.mit.edu 37 11 118772216 118772216 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:118772216G>A ENST00000334801.3 - 6 3200 c.2236C>T c.(2236-2238)Cgg>Tgg p.R746W BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 746 Met-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) AGGAGGCCCCGGCCTCCACCA 0.637000 36 91 0 0 1 0 0 C11orf70 85016 broad.mit.edu 37 11 101953919 101953919 + Missense_Mutation SNP G G C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:101953919G>C ENST00000434758.2 + 7 821 c.793G>C c.(793-795)Gac>Cac p.D265H NM_032930.2 NP_116319.2 Q9BRQ4 CK070_HUMAN chromosome 11 open reading frame 70 265 breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2) 12 all_epithelial(12;0.0137) Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0335) TGGTGTGGGAGACATGTCTTA 0.313000 26 70 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86394877 86394877 + Missense_Mutation SNP C C A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:86394877C>A ENST00000361669.2 + 2 1515 c.416C>A c.(415-417)cCa>cAa p.P139Q GRM3_ENST00000439827.1_Missense_Mutation_p.P139Q|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.P137Q NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 139 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GAAAACATCCCACTTCTCATT 0.423000 20 102 3.99206e-14 4.1625e-14 1 1 0 FOLH1B 219595 broad.mit.edu 37 11 89413823 89413823 + RNA SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:89413823G>A ENST00000532352.1 + 0 1308 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TGTACAGCTTGGTATACAACC 0.279000 9 29 0 0 1 0 0 TBXAS1 6916 broad.mit.edu 37 7 139661859 139661859 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:139661859C>T ENST00000263552.6 + 13 1502 c.964C>T c.(964-966)Cct>Tct p.P322S TBXAS1_ENST00000411653.1_Missense_Mutation_p.P321S|TBXAS1_ENST00000458722.1_Missense_Mutation_p.P367S|TBXAS1_ENST00000448866.1_Missense_Mutation_p.P321S|TBXAS1_ENST00000436047.2_Missense_Mutation_p.P322S|TBXAS1_ENST00000414508.2_Missense_Mutation_p.P322S|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000425687.1_Missense_Mutation_p.P254S|TBXAS1_ENST00000336425.5_Missense_Mutation_p.P321S|TBXAS1_ENST00000416849.2_Missense_Mutation_p.P368S NM_001130966.2 NP_001124438.1 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 321 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) CCAGCCCAGCCCTATGGCCAG 0.537000 49 39 0 0 1 0 0 CD151 977 broad.mit.edu 37 11 836823 836823 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:836823G>A ENST00000397420.3 + 5 580 c.331G>A c.(331-333)Gcc>Acc p.A111T CD151_ENST00000397421.1_Missense_Mutation_p.A111T|CD151_ENST00000528011.1_Missense_Mutation_p.A111T|CD151_ENST00000322008.4_Missense_Mutation_p.A111T P48509 CD151_HUMAN CD151 molecule (Raph blood group) 111 cell adhesion|hemidesmosome assembly cytosol|integral to plasma membrane|membrane fraction protein binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 3 all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227) all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGGTATCCTCGCCTACGCCTA 0.602000 13 25 0 0 1 0 0 POLR3A 11128 broad.mit.edu 37 10 79767502 79767502 + Missense_Mutation SNP C C G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr10:79767502C>G ENST00000372371.3 - 15 2169 c.2032G>C c.(2032-2034)Gat>Cat p.D678H NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 678 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) GACATGGCATCTGCAGCTTCA 0.468000 17 51 0 0 1 0 0 NFKBIA 4792 broad.mit.edu 37 14 35872415 35872415 + Missense_Mutation SNP A A C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:35872415A>C ENST00000216797.5 - 3 589 c.488T>G c.(487-489)cTg>cGg p.L163R NFKBIA_ENST00000557389.1_Missense_Mutation_p.L73R|NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557140.1_Missense_Mutation_p.L163R NM_020529.2 NP_065390.1 P25963 IKBA_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha 163 anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|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 cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding breast(3)|endometrium(1)|large_intestine(2)|liver(1) 7 Breast(36;0.0484)|Hepatocellular(127;0.158) Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891) GBM - Glioblastoma multiforme(112;0.0222) GGACTGAGTCAGGACTCCCAC 0.627000 32 124 0 0 1 0 0 NCAM2 4685 broad.mit.edu 37 21 22804576 22804576 + Missense_Mutation SNP A A C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr21:22804576A>C ENST00000400546.1 + 12 1878 c.1629A>C c.(1627-1629)aaA>aaC p.K543N NCAM2_ENST00000284894.7_Missense_Mutation_p.K401N NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 543 Fibronectin type-III 1. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) AAATCTGGAAAATTGTACGCT 0.428000 6 31 0 0 1 0 0 PVRL1 5818 broad.mit.edu 37 11 119549160 119549160 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:119549160C>T ENST00000264025.3 - 2 925 c.395G>A c.(394-396)gGc>gAc p.G132D PVRL1_ENST00000340882.2_Missense_Mutation_p.G132D|PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000341398.2_Missense_Mutation_p.G132D NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 132 Ig-like V-type. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) TTCTCGATTGCCCGTAGGGAA 0.617000 29 71 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175087712 175087712 + Missense_Mutation SNP A A C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:175087712A>C ENST00000239462.4 + 11 2515 c.2402A>C c.(2401-2403)cAa>cCa p.Q801P NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 801 Fibronectin type-III 7. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GACAGCCCCCAAAACCTGGTC 0.517000 27 121 0 0 1 0 0 TAF5 6877 broad.mit.edu 37 10 105147410 105147410 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr10:105147410G>A ENST00000369839.3 + 10 2163 c.2140G>A c.(2140-2142)Gtc>Atc p.V714I TAF5_ENST00000351396.4_Missense_Mutation_p.V659I NM_006951.3 NP_008882.2 Q15542 TAF5_HUMAN TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa 714 histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2) 15 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) CACTGATACAGTCTGTTCACT 0.403000 91 71 0 0 1 0 0 PIGZ 80235 broad.mit.edu 37 3 196675080 196675080 + Missense_Mutation SNP A A C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:196675080A>C ENST00000412723.1 - 3 834 c.688T>G c.(688-690)Ttt>Gtt p.F230V PIGZ_ENST00000443835.1_3'UTR NM_025163.2 NP_079439.2 Q86VD9 PIGZ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Z 230 GPI anchor biosynthetic process integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 14 all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00603) AAGGCCAGAAAGGTGGGCCGG 0.652000 18 126 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68260384 68260384 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:68260384G>A ENST00000347230.4 - 14 2632 c.2494C>T c.(2494-2496)Cca>Tca p.P832S ZFYVE26_ENST00000555452.1_Missense_Mutation_p.P832S NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 832 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GACTCAGGTGGGGAGAACATC 0.557000 21 44 0 0 1 0 0 PTPRJ 5795 broad.mit.edu 37 11 48146655 48146655 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:48146655C>T ENST00000418331.2 + 6 1362 c.1010C>T c.(1009-1011)cCt>cTt p.P337L PTPRJ_ENST00000440289.2_Missense_Mutation_p.P337L NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 337 Fibronectin type-III 3. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GGGTTAGAGCCTGGCACCCGA 0.582000 32 99 0 0 1 0 0 SLC9C1 285335 broad.mit.edu 37 3 111898453 111898453 + Silent SNP T T C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:111898453T>C ENST00000305815.5 - 23 3096 c.2844A>G c.(2842-2844)ggA>ggG p.G948G SLC9C1_ENST00000487372.1_Silent_p.G900G NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 948 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity CTATTATTTCTCCACTGAGCA 0.383000 11 81 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 41408878 41408878 + Missense_Mutation SNP C C A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr20:41408878C>A ENST00000373198.3 - 4 783 c.548G>T c.(547-549)cGg>cTg p.R183L PTPRT_ENST00000373201.1_Missense_Mutation_p.R183L|PTPRT_ENST00000373193.3_Missense_Mutation_p.R183L|PTPRT_ENST00000356100.2_Missense_Mutation_p.R183L|PTPRT_ENST00000373184.1_Missense_Mutation_p.R183L|PTPRT_ENST00000373190.1_Missense_Mutation_p.R183L|PTPRT_ENST00000373187.1_Missense_Mutation_p.R183L NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 183 MAM. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) AGCAAGGACCCGGACCTCGTC 0.522000 23 148 2.48779e-11 2.56519e-11 1 1 0 MUC15 143662 broad.mit.edu 37 11 26584708 26584708 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:26584708C>T ENST00000436318.2 - 3 1013 c.880G>A c.(880-882)Gat>Aat p.D294N ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.D294N|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.D267N|MUC15_ENST00000281268.8_Intron|MUC15_ENST00000527569.1_Intron Q8N387 MUC15_HUMAN mucin 15, cell surface associated 267 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 GAAAATGAATCCGTTTTCCTT 0.398000 29 76 0 0 1 0 0 TNPO2 30000 broad.mit.edu 37 19 12825642 12825642 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:12825642G>A ENST00000425528.1 - 10 1240 c.883C>T c.(883-885)Ctg>Ttg p.L295L TNPO2_ENST00000592287.1_Silent_p.L295L|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000450764.2_Silent_p.L295L|TNPO2_ENST00000441499.1_Silent_p.L295L|TNPO2_ENST00000588216.1_Silent_p.L295L|TNPO2_ENST00000356861.5_Silent_p.L295L O14787 TNPO2_HUMAN transportin 2 295 intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CACTGGACCAGATGGGAGGCC 0.607000 11 100 0 0 1 0 0 KRT78 196374 broad.mit.edu 37 12 53232906 53232906 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:53232906G>A ENST00000359499.4 - 9 1235 c.1224C>T c.(1222-1224)atC>atT p.I408I KRT78_ENST00000304620.4_Silent_p.I518I Q8N1N4 K2C78_HUMAN keratin 78 518 Coil 2.|Rod. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 CTCAGTAGGTGATGGATGTCT 0.592000 30 49 0 0 1 0 0 NMU 10874 broad.mit.edu 37 4 56482528 56482528 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr4:56482528G>A ENST00000264218.3 - 3 301 c.196C>T c.(196-198)Ctg>Ttg p.L66L NMU_ENST00000507338.1_Silent_p.L66L|NMU_ENST00000505262.1_Silent_p.L66L|NMU_ENST00000511469.1_Intron|NMU_ENST00000515325.1_5'UTR NM_006681.2 NP_006672.1 P48645 NMU_HUMAN neuromedin U 66 neuropeptide signaling pathway extracellular region lung(3)|ovary(1)|urinary_tract(1) 5 Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.103) LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559) LUSC - Lung squamous cell carcinoma(721;0.0115) TCAATGGACAGAAAAGACGAA 0.348000 11 44 0 0 1 0 0 TRAC 28755 broad.mit.edu 37 14 23016520 23016520 + RNA SNP C C G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:23016520C>G ENST00000478163.3 + 0 74 TCTGCCTATTCACCGATTTTG 0.443000 44 143 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16962020 16962020 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr10:16962020G>A ENST00000377833.4 - 44 6828 c.6763C>T c.(6763-6765)Ccg>Tcg p.P2255S NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 2255 CUB 16. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CGTGTTTCCGGTGGAGCCGCT 0.458000 54 15 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210557689 210557689 + Nonsense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:210557689G>A ENST00000360351.4 + 7 1301 c.795G>A c.(793-795)tgG>tgA p.W265* MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Nonsense_Mutation_p.W261*|MAP2_ENST00000199940.6_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 265 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AAAAGGACTGGTTCATCGAAA 0.478000 21 70 0 0 1 0 0 KRTAP24-1 643803 broad.mit.edu 37 21 31654675 31654675 + Missense_Mutation SNP A A C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr21:31654675A>C ENST00000340345.4 - 1 601 c.576T>G c.(574-576)tgT>tgG p.C192W NM_001085455.1 NP_001078924.1 Q3LI83 KR241_HUMAN keratin associated protein 24-1 192 keratin filament structural molecule activity breast(1)|large_intestine(3)|lung(7)|urinary_tract(3) 14 TGGAAATATAACATAATGGTG 0.418000 22 66 0 0 1 0 0 KIAA0754 643314 broad.mit.edu 37 1 39879935 39879935 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:39879935C>T ENST00000530275.1 + 1 3785 c.3590C>T c.(3589-3591)tCc>tTc p.S1197F MACF1_ENST00000289893.4_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 1197 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GAGGAAGTTTCCCCCATTGGT 0.592000 13 32 0 0 1 0 0 USP19 10869 broad.mit.edu 37 3 49152671 49152671 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:49152671G>A ENST00000453664.1 - 13 2294 c.1976C>T c.(1975-1977)tCc>tTc p.S659F USP19_ENST00000398898.2_Missense_Mutation_p.S608F|USP19_ENST00000434032.2_Missense_Mutation_p.S669F|USP19_ENST00000417901.1_Missense_Mutation_p.S671F|USP19_ENST00000398888.2_Missense_Mutation_p.S568F|USP19_ENST00000398892.3_Missense_Mutation_p.S608F|USP19_ENST00000398896.1_Missense_Mutation_p.S376F NM_001199161.1|NM_001199162.1 NP_001186090.1|NP_001186091.1 O94966 UBP19_HUMAN ubiquitin specific peptidase 19 568 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CTTCAACTTGGAAGGCTGGAA 0.617000 7 42 0 0 1 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156907218 156907218 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:156907218C>T ENST00000368194.3 - 39 5302 c.4263G>A c.(4261-4263)atG>atA p.M1421I ARHGEF11_ENST00000361409.2_Missense_Mutation_p.M1381I|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.M797I|ARHGEF11_ENST00000487682.1_5'UTR NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 1381 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GAGGGGGGCTCATGGGTGCCT 0.612000 89 71 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153225451 153225451 + Missense_Mutation SNP G G T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:153225451G>T ENST00000310441.7 - 8 2212 c.1246C>A c.(1246-1248)Ccg>Acg p.P416T HCFC1_ENST00000369984.4_Missense_Mutation_p.P416T|HCFC1_ENST00000354233.3_Intron NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 416 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GATGGGACCGGATTGGGTGTA 0.637000 72 34 5.72124e-26 6.10266e-26 1 1 0 LYST 1130 broad.mit.edu 37 1 235866078 235866078 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:235866078G>A ENST00000389794.3 - 45 10517 c.10343C>T c.(10342-10344)aCc>aTc p.T3448I LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.T3448I Q99698 LYST_HUMAN lysosomal trafficking regulator 3448 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) CTGTTCTCGGGTCTCCCTGAA 0.498000 114 58 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126238098 126238098 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr4:126238098C>T ENST00000394329.3 + 1 545 c.532C>T c.(532-534)Cgc>Tgc p.R178C NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 178 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CCGCATCATCCGCGGCAATGA 0.632000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 51 0 0 1 0 0 CDKN2B 1030 broad.mit.edu 37 9 22006193 22006193 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr9:22006193C>T ENST00000276925.6 - 2 619 c.210G>A c.(208-210)gcG>gcA p.A70A CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B_ENST00000380142.4_3'UTR|CDKN2B-AS1_ENST00000584816.1_RNA NM_004936.3|NM_078487.2 NP_004927.2|NP_511042.1 P42772 CDN2B_HUMAN cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) 70 cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding p.0(1)|p.0?(1) lung(2) 2 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143) AGTTGGGCTCCGCGCCGTGGA 0.697000 10 38 0 0 1 0 0 B4GALT3 8703 broad.mit.edu 37 1 161144929 161144929 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:161144929G>A ENST00000319769.5 - 4 565 c.343C>T c.(343-345)Cgc>Tgc p.R115C PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000367998.1_Missense_Mutation_p.R115C|PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000495483.1_Intron NM_001199873.1|NM_003779.3 NP_001186802.1|NP_003770.1 O60512 B4GT3_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 115 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity cervix(1)|endometrium(5)|large_intestine(6)|lung(6) 18 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) N-Acetyl-D-glucosamine(DB00141) CCTGCAGGGCGGTACCGGCCC 0.637000 125 107 0 0 1 0 0 WWTR1 25937 broad.mit.edu 37 3 149245639 149245639 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:149245639C>T ENST00000465804.1 - 6 1145 c.889G>A c.(889-891)Gat>Aat p.D297N WWTR1_ENST00000467467.1_Missense_Mutation_p.D297N|WWTR1_ENST00000360632.3_Missense_Mutation_p.D297N NM_001168278.1 NP_001161750.1 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 297 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) AGGAAAGGATCTGAGCTATTA 0.428000 T CAMTA1 epitheliod hemangioendothelioma 59 368 0 0 1 0 0 HDAC4 9759 broad.mit.edu 37 2 240048223 240048223 + Nonsense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:240048223G>A ENST00000345617.3 - 12 2238 c.1447C>T c.(1447-1449)Cag>Tag p.Q483* HDAC4_ENST00000543185.1_Nonsense_Mutation_p.Q67*|HDAC4_ENST00000541256.1_Nonsense_Mutation_p.Q457* NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 483 B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) tgctgctgctgGATGACCAGG 0.647000 12 13 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17046559 17046559 + RNA SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:17046559C>T ENST00000492551.1 - 0 93 NR_026567.1 GCGGTGGGATCCCCACCGCCA 0.607000 17 129 0 0 1 0 0 TRAV10 28676 broad.mit.edu 37 14 22293950 22293950 + RNA SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:22293950G>A ENST00000390432.2 + 0 90 TCTGAATAGGGGGGAATGGCA 0.443000 27 30 0 0 1 0 0 UPF3A 65110 broad.mit.edu 37 13 115047559 115047559 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr13:115047559C>T ENST00000375299.3 + 2 327 c.271C>T c.(271-273)Ctg>Ttg p.L91L UPF3A_ENST00000351487.5_Silent_p.L91L NM_023011.3 NP_075387.1 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A (yeast) 91 Required for interaction with UPF2. mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding p.L91L(8) autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 16 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) GCTGCGCCCGCTGCCAGCACA 0.731000 3 6 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61468711 61468711 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:61468711G>A ENST00000398571.2 - 53 6837 c.6761C>T c.(6760-6762)tCg>tTg p.S2254L NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 2254 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) TAACTCTGACGAAACATCAAA 0.328000 18 11 0 0 1 0 0 MFSD12 126321 broad.mit.edu 37 19 3542860 3542860 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:3542860G>A ENST00000398558.4 - 10 1535 c.1536C>T c.(1534-1536)ccC>ccT p.P512P C19orf71_ENST00000329493.5_Intron|MFSD12_ENST00000389395.3_Intron NM_021731.2 NP_068377.2 Q6NUT3 CS028_HUMAN major facilitator superfamily domain containing 12 0 transmembrane transport integral to membrane cervix(1)|endometrium(2)|lung(4)|urinary_tract(2) 9 TCCAGGCCAGGGGGGCTTCCC 0.632000 7 70 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179581978 179581978 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:179581978C>T ENST00000589042.1 - 88 25707 c.25483G>A c.(25483-25485)Gag>Aag p.E8495K TTN_ENST00000342992.6_Missense_Mutation_p.E7251K|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E8178K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8178 Ig-like 67. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGGCGAATCTCTCGGTTATCT 0.463000 25 40 0 0 1 0 0 PPP2R5B 5526 broad.mit.edu 37 11 64695896 64695896 + Splice_Site SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:64695896C>T ENST00000164133.2 + 6 1343 c.722_splice c.e6+1 p.R241_splice NM_006244.3 NP_006235.1 Q15173 2A5B_HUMAN protein phosphatase 2, regulatory subunit B', beta 241 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2) 21 CATCTTCCTCCGGTGAGTGGC 0.607000 32 54 0 0 1 0 0 GPR32 2854 broad.mit.edu 37 19 51274903 51274903 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:51274903C>T ENST00000270590.4 + 1 1183 c.1046C>T c.(1045-1047)cCc>cTc p.P349L NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 349 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) TCATCCTGTCCCCGTGGCAAC 0.522000 5 117 0 0 1 0 0 SPATA5 166378 broad.mit.edu 37 4 123868522 123868522 + Silent SNP T T C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr4:123868522T>C ENST00000274008.3 + 9 1662 c.1593T>C c.(1591-1593)gaT>gaC p.D531D SPATA5_ENST00000422835.2_3'UTR NM_145207.2 NP_660208.2 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 531 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 ACCGGCTAGATATTCTCCAGA 0.512000 26 83 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132551986 132551986 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:132551986C>T ENST00000333577.4 + 51 9046 c.8937C>T c.(8935-8937)gcC>gcT p.A2979A EP400_ENST00000332482.4_Silent_p.A2906A|EP400_ENST00000330386.6_Silent_p.A2862A|EP400_ENST00000389561.2_Silent_p.A2943A|EP400_ENST00000389562.2_Silent_p.A2942A Q96L91 EP400_HUMAN E1A binding protein p400 2979 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) AGCAGAAGGCCATCCAGCCCC 0.647000 38 135 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9090567 9090567 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:9090567C>T ENST00000397910.4 - 1 1451 c.1248G>A c.(1246-1248)gaG>gaA p.E416E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 416 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTTGGTCTCCTCTGAGACTA 0.502000 19 81 0 0 1 0 0 ZNF175 7728 broad.mit.edu 37 19 52090126 52090126 + Missense_Mutation SNP T T G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:52090126T>G ENST00000262259.2 + 5 900 c.542T>G c.(541-543)aTg>aGg p.M181R ZNF175_ENST00000436511.2_Intron NM_007147.2 NP_009078.1 Q9Y473 ZN175_HUMAN zinc finger protein 175 181 response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) CCTGGGAAAATGATTCGCACG 0.408000 23 91 0 0 1 0 0 FSCN2 25794 broad.mit.edu 37 17 79495838 79495838 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:79495838C>T ENST00000417245.2 + 1 417 c.281C>T c.(280-282)cCg>cTg p.P94L FSCN2_ENST00000334850.7_Missense_Mutation_p.P94L NM_001077182.2|NM_012418.3 NP_001070650.1|NP_036550.1 O14926 FSCN2_HUMAN fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) 94 actin filament bundle assembly|anatomical structure morphogenesis|visual perception actin cytoskeleton|cytoplasm|stereocilium actin filament binding|protein binding, bridging endometrium(1)|lung(1)|prostate(1)|urinary_tract(1) 4 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) CTGGTCCTGCCGCAGCCAGAT 0.716000 5 3 0 0 1 0 0 FOXJ3 22887 broad.mit.edu 37 1 42647664 42647664 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:42647664G>A ENST00000372572.1 - 14 1988 c.1677C>T c.(1675-1677)ctC>ctT p.L559L FOXJ3_ENST00000372571.1_Silent_p.L73L|FOXJ3_ENST00000545068.1_Silent_p.L559L|FOXJ3_ENST00000372573.1_Silent_p.L559L|FOXJ3_ENST00000361776.1_Silent_p.L525L|FOXJ3_ENST00000361346.1_Silent_p.L559L NM_001198851.1 NP_001185780.1 Q9UPW0 FOXJ3_HUMAN forkhead box J3 559 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CTGAAGGAGGGAGATTTTGCC 0.428000 8 16 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35748500 35748500 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:35748500G>A ENST00000187397.4 + 10 1177 c.721G>A c.(721-723)Gaa>Aaa p.E241K ARPP21_ENST00000417925.1_Missense_Mutation_p.E241K|ARPP21_ENST00000337271.5_Missense_Mutation_p.E241K|ARPP21_ENST00000444190.1_Missense_Mutation_p.E241K|ARPP21_ENST00000458225.1_Missense_Mutation_p.E241K NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 241 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 TTTAAAAGATGAAAAAGGTGA 0.348000 56 63 0 0 1 0 0 NFKBIB 4793 broad.mit.edu 37 19 39396029 39396029 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:39396029C>T ENST00000392079.3 + 3 475 c.377C>T c.(376-378)cCc>cTc p.P126L NFKBIB_ENST00000313582.5_Missense_Mutation_p.P158L|NFKBIB_ENST00000572515.1_Missense_Mutation_p.P158L Q15653 IKBB_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta 158 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleus protein binding|signal transducer activity|transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 8 all_cancers(60;4.39e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) AGGGAAGCCCCCGACACCTAC 0.692000 30 72 0 0 1 0 0 LIN7A 8825 broad.mit.edu 37 12 81239560 81239560 + Silent SNP T T C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:81239560T>C ENST00000552864.1 - 4 634 c.432A>G c.(430-432)gaA>gaG p.E144E NM_004664.2 NP_004655.1 O14910 LIN7A_HUMAN lin-7 homolog A (C. elegans) 144 PDZ. exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2) 15 CTCCGTGTCTTTCAGCCACCC 0.433000 23 65 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46246591 46246591 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:46246591C>T ENST00000334344.6 + 15 4857 c.4685C>T c.(4684-4686)cCa>cTa p.P1562L ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.P1172L|ARID2_ENST00000422737.1_Missense_Mutation_p.P1413L|ARID2_ENST00000457135.1_Missense_Mutation_p.P170L NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1562 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GGAGCAGATCCAAGCACTGTA 0.453000 """N, S, F""" hepatocellular carcinoma 11 65 0 0 1 0 0 CHAF1A 10036 broad.mit.edu 37 19 4418031 4418031 + Silent SNP C C T rs143106881 TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:4418031C>T ENST00000301280.5 + 4 1076 c.975C>T c.(973-975)ttC>ttT p.F325F NM_005483.2 NP_005474.2 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 325 Arg/Glu/Lys-rich. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 27 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CTAAGAAATTCGTCAAAGGCT 0.348000 Chromatin Structure 30 48 0 0 1 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240560 39240560 + Silent SNP T T C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:39240560T>C ENST00000391417.4 + 1 102 c.102T>C c.(100-102)tgT>tgC p.C34C NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.C34C(2) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 AGACCACCTGTTGCAGGACCA 0.647000 3 61 0 0 1 0 0 AGO4 192670 broad.mit.edu 37 1 36282581 36282581 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:36282581C>T ENST00000373210.3 + 2 363 c.118C>T c.(118-120)Cct>Tct p.P40S NM_017629.3 NP_060099.2 argonaute RISC catalytic component 4 GGTTCAGATTCCTAAAATAGA 0.433000 24 66 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47947802 47947802 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:47947802C>T ENST00000289672.2 - 9 1324 c.1274G>A c.(1273-1275)gGa>gAa p.G425E NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 425 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CACTTCGGTTCCATGAAACTC 0.418000 42 34 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554032 140554032 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:140554032C>T ENST00000231137.3 + 1 1790 c.1616C>T c.(1615-1617)cCc>cTc p.P539L NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 539 Cadherin 5. 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) CGCGGCTCCCCCGCGCTGAGC 0.692000 48 124 0 0 1 0 0 SLC38A1 81539 broad.mit.edu 37 12 46600938 46600938 + Splice_Site SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:46600938G>A ENST00000398637.5 - 8 1257 c.563_splice c.e8+1 p.S188_splice SLC38A1_ENST00000546893.1_Splice_Site_p.S188_splice|SLC38A1_ENST00000552197.1_Splice_Site_p.S188_splice|SLC38A1_ENST00000549049.1_Splice_Site_p.S188_splice|SLC38A1_ENST00000439706.1_Splice_Site_p.S188_splice|SLC38A1_ENST00000549633.1_5'UTR NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3 NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3 Q9H2H9 S38A1_HUMAN solute carrier family 38, member 1 188 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) TATAACTTACGAAAATGTCTC 0.313000 3 61 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142574936 142574936 + Missense_Mutation SNP C C A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:142574936C>A ENST00000359396.3 - 4 691 c.446G>T c.(445-447)gGc>gTc p.G149V RP11-114L10.2_ENST00000438839.1_RNA NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 149 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding p.G149V(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) GAAGGCAGTGCCTGTGGCTCT 0.617000 30 159 2.61193e-14 2.73575e-14 1 1 0 GALT 2592 broad.mit.edu 37 9 34649005 34649005 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr9:34649005C>T ENST00000378842.3 + 9 873 c.831C>T c.(829-831)tcC>tcT p.S277S GALT_ENST00000450095.2_Silent_p.S168S|GALT_ENST00000556278.1_Intron|GALT_ENST00000488412.2_3'UTR NM_000155.3 NP_000146.2 P07902 GALT_HUMAN galactose-1-phosphate uridylyltransferase 277 galactose catabolic process cytosol UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1) 16 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.173) ATCTAGCCTCCATCATGAAGA 0.517000 Galactosemia 97 134 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127782225 127782225 + Missense_Mutation SNP A A C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:127782225A>C ENST00000508053.1 - 13 1875 c.901T>G c.(901-903)Tgc>Ggc p.C301G FBN2_ENST00000508989.1_Missense_Mutation_p.C268G|FBN2_ENST00000262464.4_Missense_Mutation_p.C301G P35556 FBN2_HUMAN fibrillin 2 301 EGF-like 4; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GGGCATCTGCATTCAAAAGAG 0.428000 22 52 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65246616 65246616 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:65246616C>T ENST00000389722.3 - 20 4353 c.4300G>A c.(4300-4302)Gag>Aag p.E1434K SPTB_ENST00000542895.1_Missense_Mutation_p.E1434K|SPTB_ENST00000389721.5_Missense_Mutation_p.E1434K|SPTB_ENST00000389720.3_Missense_Mutation_p.E1434K|SPTB_ENST00000556626.1_Missense_Mutation_p.E1434K NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1434 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TCCCCCAGCTCCTCTTTTCGC 0.582000 76 131 0 0 1 0 0 UCN3 114131 broad.mit.edu 37 10 5415704 5415704 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr10:5415704C>T ENST00000380433.3 + 2 249 c.21C>T c.(19-21)ttC>ttT p.F7F NM_053049.2 NP_444277.2 Q969E3 UCN3_HUMAN urocortin 3 7 extracellular region hormone activity endometrium(1)|large_intestine(1) 2 CGGTCCACTTCCTGCTGCTCC 0.612000 115 43 0 0 1 0 0 GAS2L3 283431 broad.mit.edu 37 12 101018530 101018530 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:101018530C>T ENST00000537247.1 + 10 2589 c.1635C>T c.(1633-1635)ggC>ggT p.G545G GAS2L3_ENST00000547754.1_Silent_p.G649G|GAS2L3_ENST00000266754.5_Silent_p.G649G|GAS2L3_ENST00000539410.1_Silent_p.G649G Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 649 cell cycle arrest endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 CCAGAAGTGGCAAAACCCCAG 0.463000 15 60 0 0 1 0 0 IRX1 79192 broad.mit.edu 37 5 3600196 3600196 + Silent SNP A A C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:3600196A>C ENST00000302006.3 + 2 1186 c.1134A>C c.(1132-1134)gcA>gcC p.A378A CTD-2012M11.3_ENST00000559410.1_RNA NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 378 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 CCAACAGCGCATTCCTCGCAC 0.682000 34 40 0 0 1 0 0 NUP107 57122 broad.mit.edu 37 12 69094622 69094622 + Silent SNP T T G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:69094622T>G ENST00000229179.4 + 7 1001 c.669T>G c.(667-669)gcT>gcG p.A223A NUP107_ENST00000378905.2_Silent_p.A72A|NUP107_ENST00000539906.1_Silent_p.A194A NM_020401.2 NP_065134.1 P57740 NU107_HUMAN nucleoporin 107kDa 223 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) GGCTGCTGGCTTCTTTGTATA 0.388000 18 65 0 0 1 0 0 ZNF20 7568 broad.mit.edu 37 19 12243515 12243515 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:12243515G>A ENST00000334213.5 - 4 1710 c.1486C>T c.(1486-1488)Cat>Tat p.H496Y ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron NM_001203250.1|NM_021143.3 NP_001190179.1|NP_066966.2 P17024 ZNF20_HUMAN zinc finger protein 20 496 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|lung(6) 8 GTCCTTTCATGATATCGAATG 0.413000 61 177 0 0 1 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19410385 19410385 + Missense_Mutation SNP A A G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:19410385A>G ENST00000538714.1 + 6 455 c.451A>G c.(451-453)Aaa>Gaa p.K151E PLEKHA5_ENST00000317589.4_Missense_Mutation_p.K151E|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.K151E|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.K151E|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.K151E|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.K43E|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.K151E|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.K43E|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.K151E|PLEKHA5_ENST00000539256.1_5'UTR NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 151 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) AGCTTCAAAAAAAGTTCATAA 0.318000 29 47 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126238692 126238692 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr4:126238692G>A ENST00000394329.3 + 1 1139 c.1126G>A c.(1126-1128)Gtg>Atg p.V376M NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 376 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AGTGGGCACCGTGGTGGCTCT 0.597000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 51 0 0 1 0 0 PTBP1 5725 broad.mit.edu 37 19 808727 808727 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:808727C>T ENST00000356948.6 + 13 1851 c.1428C>T c.(1426-1428)ttC>ttT p.F476F PTBP1_ENST00000350092.4_Silent_p.F116F|PTBP1_ENST00000349038.4_Silent_p.F450F|PTBP1_ENST00000394601.4_Silent_p.F469F NM_002819.4 NP_002810.1 P26599 PTBP1_HUMAN polypyrimidine tract binding protein 1 450 RRM 4. negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4) 19 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGAACATATTCCCGCCCTCGG 0.672000 10 34 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144945812 144945812 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr8:144945812G>A ENST00000525985.1 - 2 1681 c.1610C>T c.(1609-1611)tCc>tTc p.S537F P58107 EPIPL_HUMAN epiplakin 1 537 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTTCTCCACGGAGAGGGTCCC 0.662000 3 18 0 0 1 0 0 PGBD5 79605 broad.mit.edu 37 1 230503753 230503753 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:230503753C>T ENST00000321327.2 - 2 261 c.262G>A c.(262-264)Ggg>Agg p.G88R PGBD5_ENST00000525115.1_Intron|PGBD5_ENST00000391860.1_Intron Q8N414 PGBD5_HUMAN piggyBac transposable element derived 5 0 integral to membrane biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1) 33 Breast(184;0.0397) Prostate(94;0.167) GBM - Glioblastoma multiforme(131;0.201) gttctcttccccacgccacac 0.557000 11 48 0 0 1 0 0 BBOX1 8424 broad.mit.edu 37 11 27141292 27141292 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:27141292C>T ENST00000263182.3 + 7 1104 c.736C>T c.(736-738)Cct>Tct p.P246S RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000530430.1_RNA|BBOX1_ENST00000525090.1_Missense_Mutation_p.P246S|BBOX1_ENST00000528583.1_Missense_Mutation_p.P246S|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000529202.1_Missense_Mutation_p.P246S|BBOX1_ENST00000527505.1_3'UTR NM_003986.2 NP_003977.1 O75936 BODG_HUMAN butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 246 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 23 Succinic acid(DB00139)|Vitamin C(DB00126) GAAAAATAATCCTCAGGCATT 0.358000 14 24 0 0 1 0 0 ZNF296 162979 broad.mit.edu 37 19 45579557 45579557 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:45579557C>T ENST00000303809.2 - 1 289 c.75G>A c.(73-75)atG>atA p.M25I NM_145288.1 NP_660331.1 Q8WUU4 ZN296_HUMAN zinc finger protein 296 25 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|lung(3)|prostate(1)|urinary_tract(2) 7 CCTGCATTTCCATCTCGTCGT 0.721000 15 55 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 3 32 0.004672 0.00469223 1 1 0 CACNA1E 777 broad.mit.edu 37 1 181767893 181767893 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:181767893G>A ENST00000526775.1 + 46 6844 c.6679G>A c.(6679-6681)Ggg>Agg p.G2227R CACNA1E_ENST00000358338.5_Missense_Mutation_p.G2178R|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G2289R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G2270R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G2240R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G2246R|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1853R NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2289 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GCGGAGGCGCGGGGGGCCTGG 0.642000 6 36 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100493830 100493830 + Nonsense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr8:100493830C>T ENST00000395996.1 + 25 3781 c.3670C>T c.(3670-3672)Cag>Tag p.Q1224* VPS13B_ENST00000358544.2_Nonsense_Mutation_p.Q1224*|VPS13B_ENST00000357162.2_Nonsense_Mutation_p.Q1224* Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1224 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CTCTCAGGTCCAGCTCTTCTA 0.363000 66 67 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135482222 135482222 + Missense_Mutation SNP T T C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:135482222T>C ENST00000394143.1 + 21 8813 c.8522T>C c.(8521-8523)gTc>gCc p.V2841A GPR112_ENST00000394141.1_Missense_Mutation_p.V2636A|GPR112_ENST00000287534.4_Missense_Mutation_p.V2594A|GPR112_ENST00000370652.1_Missense_Mutation_p.V2841A|GPR112_ENST00000412101.1_Missense_Mutation_p.V2636A NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2841 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTAGTCAAAGTCTTCAACATA 0.378000 18 50 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78796463 78796463 + Missense_Mutation SNP A A C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr9:78796463A>C ENST00000545128.1 + 16 2691 c.2153A>C c.(2152-2154)aAc>aCc p.N718T PCSK5_ENST00000376752.4_Missense_Mutation_p.N718T NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 718 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 GAAGAAACCAACAGCTGTGTT 0.453000 22 92 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89391084 89391084 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:89391084C>T ENST00000336596.2 + 5 1375 c.1150C>T c.(1150-1152)Cct>Tct p.P384S EPHA3_ENST00000452448.2_Missense_Mutation_p.P384S|EPHA3_ENST00000494014.1_Missense_Mutation_p.P384S NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 384 Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CCGCTTCCTCCCTCGACAGTT 0.473000 TSP Lung(6;0.00050) 27 96 0 0 1 0 0 OR2C1 4993 broad.mit.edu 37 16 3406348 3406348 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr16:3406348G>A ENST00000304936.2 + 1 460 c.408G>A c.(406-408)atG>atA p.M136I NM_012368.2 NP_036500.2 O95371 OR2C1_HUMAN olfactory receptor, family 2, subfamily C, member 1 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 CCGCCATCATGAACCCCCAGC 0.607000 15 37 0 0 1 0 0 IP6K2 51447 broad.mit.edu 37 3 48730417 48730417 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:48730417C>T ENST00000328631.5 - 3 621 c.398G>A c.(397-399)cGt>cAt p.R133H NM_001005909.2|NM_016291.3 NP_001005909.1|NP_057375.2 Q9UHH9 IP6K2_HUMAN inositol hexakisphosphate kinase 2 133 negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway intermediate filament cytoskeleton|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 15 ACGGTGCTGACGCACCCAGTC 0.463000 57 186 0 0 1 0 0 PSMA5 5686 broad.mit.edu 37 1 109944642 109944642 + Missense_Mutation SNP T T G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:109944642T>G ENST00000271308.4 - 9 739 c.719A>C c.(718-720)gAc>gCc p.D240A PSMA5_ENST00000490870.1_5'UTR|PSMA5_ENST00000538610.1_Missense_Mutation_p.D182A NM_002790.3 NP_002781.2 P28066 PSA5_HUMAN proteasome (prosome, macropain) subunit, alpha type, 5 240 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex protein binding|threonine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2) 5 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235) TCCTTAAATGTCCTTGATAAC 0.403000 28 88 0 0 1 0 0 C8orf4 56892 broad.mit.edu 37 8 40011172 40011172 + Missense_Mutation SNP G G A rs35273913 TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr8:40011172G>A ENST00000315792.3 + 1 184 c.121G>A c.(121-123)Gaa>Aaa p.E41K NM_020130.4 NP_064515.1 Q9NR00 CH004_HUMAN chromosome 8 open reading frame 4 41 apoptosis breast(1)|large_intestine(1)|ovary(1) 3 Ovarian(28;0.0173) all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141) LUSC - Lung squamous cell carcinoma(45;0.000149) KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111) CAACATCTTTGAAAACACAGA 0.483000 45 29 0 0 1 0 0 HERPUD2 64224 broad.mit.edu 37 7 35673969 35673969 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:35673969C>T ENST00000396081.1 - 7 1816 c.1012G>A c.(1012-1014)Gtt>Att p.V338I HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Missense_Mutation_p.V338I NM_022373.4 NP_071768.3 Q9BSE4 HERP2_HUMAN HERPUD family member 2 338 response to unfolded protein integral to membrane kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1) 18 TCATTGTTAACTTCGGCATTA 0.383000 9 46 0 0 1 0 0 DCLK3 85443 broad.mit.edu 37 3 36778846 36778846 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:36778846C>T ENST00000416516.2 - 2 1795 c.1305G>A c.(1303-1305)caG>caA p.Q435Q NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 435 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 GGTCTCCTCCCTGCACGTACT 0.498000 22 85 0 0 1 0 0 PRLR 5618 broad.mit.edu 37 5 35065441 35065441 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:35065441G>A ENST00000382002.5 - 10 2045 c.1619C>T c.(1618-1620)cCt>cTt p.P540L PRLR_ENST00000542609.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.P439L|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.P439L|PRLR_ENST00000310101.5_Silent_p.S349S NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 540 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) ATTGTTCTCAGGAGTCCCGGG 0.473000 19 55 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156640955 156640955 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:156640955G>A ENST00000368223.3 - 4 3157 c.3025C>T c.(3025-3027)Cca>Tca p.P1009S NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1009 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCCTCGCCTGGGATCCAGACC 0.627000 99 494 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111685471 111685471 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:111685471C>T ENST00000431670.2 + 14 3500 c.3089C>T c.(3088-3090)tCa>tTa p.S1030L PHLDB2_ENST00000412622.1_Missense_Mutation_p.S987L|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S1014L|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S1030L|PHLDB2_ENST00000495180.1_Missense_Mutation_p.S521L|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S987L|PHLDB2_ENST00000470699.2_3'UTR NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 1030 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 GCCAGCACTTCAAATATTGCT 0.423000 22 134 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9048950 9048950 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:9048950G>A ENST00000397910.4 - 5 32884 c.32681C>T c.(32680-32682)cCa>cTa p.P10894L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10896 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGTCAGAATTGGAATAGTTGT 0.483000 31 130 0 0 1 0 0 TBC1D32 221322 broad.mit.edu 37 6 121482100 121482100 + Silent SNP G G T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:121482100G>T ENST00000275159.6 - 24 2795 c.2796C>A c.(2794-2796)ctC>ctA p.L932L TBC1D32_ENST00000398212.2_Silent_p.L891L|TBC1D32_ENST00000398197.2_5'UTR TBC1 domain family, member 32 TCACCTTTTCGAGTAACCTCG 0.398000 33 21 5.04308e-16 5.29409e-16 1 1 0 TENM1 10178 broad.mit.edu 37 X 123779112 123779112 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:123779112C>T ENST00000422452.2 - 10 1820 c.1757G>A c.(1756-1758)gGg>gAg p.G586E TENM1_ENST00000371130.3_Missense_Mutation_p.G586E NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 ACACTCTGGCCCCTTCCAGCC 0.522000 200 68 0 0 1 0 0 HK2 3099 broad.mit.edu 37 2 75115083 75115083 + Missense_Mutation SNP T T C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:75115083T>C ENST00000290573.2 + 16 2873 c.2273T>C c.(2272-2274)cTc>cCc p.L758P HK2_ENST00000409174.1_Missense_Mutation_p.L730P NM_000189.4 NP_000180.2 P52789 HXK2_HUMAN hexokinase 2 758 Catalytic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 CGTAACATTCTCATCGATTTC 0.478000 29 113 0 0 1 0 0 SH2D2A 9047 broad.mit.edu 37 1 156777007 156777007 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:156777007C>T ENST00000392306.2 - 8 1302 c.1163G>A c.(1162-1164)aGa>aAa p.R388K SH2D2A_ENST00000368198.3_Missense_Mutation_p.R360K|SH2D2A_ENST00000368199.3_Missense_Mutation_p.R378K NM_001161441.1 NP_001154913.1 Q9NP31 SH22A_HUMAN SH2 domain containing 2A 378 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|large_intestine(2)|lung(15) 18 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGCCTGTCCTCTGTCCTGAAG 0.592000 101 82 0 0 1 0 0 CDH5 1003 broad.mit.edu 37 16 66431926 66431926 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr16:66431926G>A ENST00000341529.3 + 9 1550 c.1402G>A c.(1402-1404)Gaa>Aaa p.E468K CDH5_ENST00000539168.1_5'UTR NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 468 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) AGTCCACATTGAAGTTTTGGA 0.542000 50 140 0 0 1 0 0 IRX4 50805 broad.mit.edu 37 5 1879778 1879778 + Nonsense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:1879778C>T ENST00000505790.1 - 5 1032 c.576G>A c.(574-576)tgG>tgA p.W192* IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_Nonsense_Mutation_p.W192*|IRX4_ENST00000513692.1_Nonsense_Mutation_p.W192* NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 192 heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) CGTTGGCGAACCAGGTGGAGA 0.642000 63 167 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179660033 179660033 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:179660033G>A ENST00000444136.1 + 18 3313 c.3063G>A c.(3061-3063)agG>agA p.R1021R TDRD5_ENST00000294848.8_Silent_p.R967R|TDRD5_ENST00000367614.1_Silent_p.R967R NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 967 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 CTACATCCAGGAGCCTCCTAC 0.512000 16 58 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13817760 13817760 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:13817760C>T ENST00000265104.4 - 42 6989 c.6885G>A c.(6883-6885)gcG>gcA p.A2295A NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2295 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GGGCAGTAATCGCTTTGGGAT 0.418000 Kartagener syndrome 42 44 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55322290 55322290 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:55322290G>A ENST00000314644.2 + 1 508 c.508G>A c.(508-510)Gcc>Acc p.A170T NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TGTCCTCACAGCCATGGCCTA 0.493000 HNSCC(20;0.049) 30 71 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50119027 50119027 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:50119027C>T ENST00000418929.2 + 9 5060 c.5048C>T c.(5047-5049)cCc>cTc p.P1683L NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 862 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) GCCAAGAACCCCGTATCTGCT 0.592000 6 15 0 0 1 0 0 ZNF205 7755 broad.mit.edu 37 16 3169515 3169515 + Missense_Mutation SNP A A G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr16:3169515A>G ENST00000382192.3 + 7 1059 c.854A>G c.(853-855)gAg>gGg p.E285G ZNF205_ENST00000219091.4_Missense_Mutation_p.E285G|RP11-473M20.14_ENST00000575139.1_RNA|RP11-473M20.14_ENST00000576490.1_RNA NM_001278158.1|NM_003456.2 NP_001265087.1|NP_003447.2 O95201 ZN205_HUMAN zinc finger protein 205 285 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 CCCAACGAGGAGGAGAAGGGC 0.706000 7 15 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13786455 13786455 + Missense_Mutation SNP T T C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:13786455T>C ENST00000265104.4 - 52 8757 c.8653A>G c.(8653-8655)Aca>Gca p.T2885A NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2885 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCTTCAGATGTTTCACCTTTG 0.353000 Kartagener syndrome 8 35 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121485604 121485604 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:121485604C>T ENST00000260197.7 + 41 5573 c.5444C>T c.(5443-5445)tCc>tTc p.S1815F SORL1_ENST00000532694.1_Missense_Mutation_p.S661F|SORL1_ENST00000534286.1_Missense_Mutation_p.S725F|SORL1_ENST00000525532.1_Missense_Mutation_p.S759F|SORL1_ENST00000527934.1_Missense_Mutation_p.S430F NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1815 Fibronectin type-III 3. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GCTCATACATCCTATGAGATT 0.507000 15 39 0 0 1 0 0 DSTYK 25778 broad.mit.edu 37 1 205129291 205129291 + Missense_Mutation SNP G G C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:205129291G>C ENST00000367162.3 - 8 2086 c.2056C>G c.(2056-2058)Cca>Gca p.P686A DSTYK_ENST00000367160.4_Intron|DSTYK_ENST00000367161.3_Missense_Mutation_p.P686A NM_015375.2 NP_056190.1 Q6XUX3 DUSTY_HUMAN dual serine/threonine and tyrosine protein kinase 686 Protein kinase. cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 TTCTCATCTGGAGGGACAACT 0.493000 50 194 0 0 1 0 0 R3HCC1L 27291 broad.mit.edu 37 10 99968068 99968068 + Missense_Mutation SNP C C A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr10:99968068C>A ENST00000298999.3 + 5 500 c.197C>A c.(196-198)cCg>cAg p.P66Q R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.P66Q|R3HCC1L_ENST00000314594.5_5'UTR NM_014472.4 NP_055287.4 R3H domain and coiled-coil containing 1-like AAAGACAAACCGGAGGCTCGA 0.368000 24 72 9.57634e-11 9.85238e-11 1 1 0 GAS2L2 246176 broad.mit.edu 37 17 34072073 34072073 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:34072073G>A ENST00000254466.6 - 6 2470 c.2443C>T c.(2443-2445)Ctg>Ttg p.L815L GAS2L2_ENST00000587565.1_Silent_p.L799L NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 815 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GCTCTCAACAGCCTGTCCTTG 0.632000 49 54 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29295565 29295565 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:29295565C>T ENST00000331664.5 - 1 1562 c.1563G>A c.(1561-1563)cgG>cgA p.R521R NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 521 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 ATGGGCTTTCCCGGTCAGCAG 0.527000 25 111 0 0 1 0 0 ADCY6 112 broad.mit.edu 37 12 49164710 49164710 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:49164710G>A ENST00000307885.4 - 19 3789 c.3095C>T c.(3094-3096)aCg>aTg p.T1032M ADCY6_ENST00000357869.3_Missense_Mutation_p.T979M|ADCY6_ENST00000550422.1_Missense_Mutation_p.T979M NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 1032 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 GCTACCAATCGTCTTGATCTT 0.597000 23 53 0 0 1 0 0 C1orf127 148345 broad.mit.edu 37 1 11008327 11008327 + Missense_Mutation SNP A A C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:11008327A>C ENST00000377004.4 - 12 1864 c.1865T>G c.(1864-1866)gTg>gGg p.V622G C1orf127_ENST00000377008.4_Missense_Mutation_p.V455G NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 473 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) TGGCCTCTCCACCTCCGTTCC 0.662000 45 98 0 0 1 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58549307 58549307 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:58549307G>A ENST00000282326.1 + 3 350 c.103G>A c.(103-105)Gaa>Aaa p.E35K ZSCAN1_ENST00000391700.1_Missense_Mutation_p.E35K|ZSCAN1_ENST00000601162.1_Missense_Mutation_p.E35K NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 35 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CAGGGACACCGAAGCCCAGCG 0.716000 14 32 0 0 1 0 0 LEFTY1 10637 broad.mit.edu 37 1 226076544 226076544 + Missense_Mutation SNP C C T rs146054726 TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:226076544C>T ENST00000272134.5 - 1 302 c.223G>A c.(223-225)Gga>Aga p.G75R RP4-559A3.7_ENST00000432920.2_Intron|LEFTY1_ENST00000492457.1_Intron NM_020997.3 NP_066277.1 O75610 LFTY1_HUMAN left-right determination factor 1 75 cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity|transforming growth factor beta receptor binding cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 10 Breast(184;0.197) AACCTCTTTCCGCGGGAGCGG 0.682000 13 74 0 0 1 0 0 FAM65C 140876 broad.mit.edu 37 20 49236621 49236621 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr20:49236621G>A ENST00000327979.2 - 3 570 c.159C>T c.(157-159)tcC>tcT p.S53S FAM65C_ENST00000535356.1_Silent_p.S57S|FAM65C_ENST00000045083.2_Silent_p.S53S Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 53 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ACATCTTGGAGGATTTTGCAG 0.542000 16 130 0 0 1 0 0 TEX13B 56156 broad.mit.edu 37 X 107224452 107224452 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:107224452G>A ENST00000302917.1 - 3 889 c.797C>T c.(796-798)tCc>tTc p.S266F NM_031273.2 NP_112563.1 Q9BXU2 TX13B_HUMAN testis expressed 13B 266 breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 AGCTGGACAGGAAGAGGCTCC 0.527000 58 110 0 0 1 0 0 ADCK2 90956 broad.mit.edu 37 7 140374050 140374050 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:140374050C>T ENST00000072869.4 + 1 1098 c.920C>T c.(919-921)tCc>tTc p.S307F ADCK2_ENST00000476491.1_Missense_Mutation_p.S307F NM_052853.3 NP_443085.2 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 307 Protein kinase. S -> P (in dbSNP:rs1140034). integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) AACCTCATCTCCGTGGCAGTG 0.557000 22 98 0 0 1 0 0 DDX19B 11269 broad.mit.edu 37 16 70363264 70363264 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr16:70363264C>T ENST00000288071.6 + 8 922 c.677C>T c.(676-678)tCc>tTc p.S226F DDX19B_ENST00000393657.2_Missense_Mutation_p.S117F|DDX19B_ENST00000568625.1_Missense_Mutation_p.S117F|DDX19B_ENST00000563392.1_Missense_Mutation_p.S117F|DDX19B_ENST00000563206.1_Missense_Mutation_p.S231F|RP11-529K1.2_ENST00000562077.1_RNA|RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000451014.3_Missense_Mutation_p.S200F|DDX19B_ENST00000355992.3_Missense_Mutation_p.S195F NM_007242.5 NP_009173.1 Q9UMR2 DD19B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B 226 Helicase ATP-binding. mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear membrane|nuclear pore ATP binding|ATP-dependent helicase activity|protein binding|RNA binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1) 9 Ovarian(137;0.0694) GACTGGTGCTCCAAGCTCAAG 0.507000 39 26 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121444982 121444982 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:121444982C>T ENST00000260197.7 + 24 3499 c.3370C>T c.(3370-3372)Cgt>Tgt p.R1124C SORL1_ENST00000525532.1_Missense_Mutation_p.R68C NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1124 LDL-receptor class A 2. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CACCCAGTTTCGTTGCCAGGA 0.438000 35 81 0 0 1 0 0 EPN3 55040 broad.mit.edu 37 17 48614177 48614177 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:48614177C>T ENST00000268933.3 + 2 839 c.260C>T c.(259-261)aCg>aTg p.T87M EPN3_ENST00000541226.1_Missense_Mutation_p.T31M|EPN3_ENST00000537145.1_Missense_Mutation_p.T142M NM_017957.2 NP_060427.2 Q9H201 EPN3_HUMAN epsin 3 87 ENTH. clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;2.88e-09) CTGCTCAAGACGGGCTCCGAG 0.612000 62 127 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159653438 159653438 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:159653438C>T ENST00000297267.9 + 11 2094 c.1894C>T c.(1894-1896)Cgt>Tgt p.R632C FNDC1_ENST00000340366.6_Missense_Mutation_p.R569C NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 632 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CACCTCTCATCGTCCTTCCCT 0.677000 32 36 0 0 1 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240549 39240549 + Missense_Mutation SNP C C G rs151117992 by1000genomes TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:39240549C>G ENST00000391417.4 + 1 91 c.91C>G c.(91-93)Cag>Gag p.Q31E NM_033061.3 NP_149050.3 keratin associated protein 4-7 NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 CAGCTGCTGTCAGACCACCTG 0.632000 4 58 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58384854 58384854 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:58384854C>T ENST00000435989.2 - 3 2138 c.1904G>A c.(1903-1905)gGa>gAa p.G635E ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 635 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 CCCACAGTCTCCACACTTGTA 0.438000 4 69 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28609492 28609492 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr18:28609492G>A ENST00000434452.1 - 4 611 c.457C>T c.(457-459)Cca>Tca p.P153S DSC3_ENST00000360428.4_Missense_Mutation_p.P153S NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 153 Cadherin 1. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) AGAAACAATGGGAAAGGGCCC 0.408000 14 44 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7585866 7585866 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:7585866C>T ENST00000379802.3 + 24 8712 c.8371C>T c.(8371-8373)Cgc>Tgc p.R2791C DSP_ENST00000418664.2_Missense_Mutation_p.R2192C NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2791 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TGCCATAAATCGCTCCATGGT 0.542000 168 268 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103544382 103544382 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:103544382G>A ENST00000358392.2 - 3 637 c.320C>T c.(319-321)cCa>cTa p.P107L COL11A1_ENST00000370096.3_Missense_Mutation_p.P107L|COL11A1_ENST00000353414.4_Missense_Mutation_p.P107L|COL11A1_ENST00000512756.1_Missense_Mutation_p.P107L NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 107 TSP N-terminal. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCCTTTTTTTGGTTTTACTGT 0.328000 11 17 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193176955 193176955 + Missense_Mutation SNP A A C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:193176955A>C ENST00000342695.4 - 14 1911 c.1589T>G c.(1588-1590)aTg>aGg p.M530R ATP13A4_ENST00000295548.3_Missense_Mutation_p.M530R|ATP13A4_ENST00000392443.3_Missense_Mutation_p.M511R NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 530 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) GCAGCTGGCCATCGCTGCACA 0.537000 32 131 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52505549 52505549 + Missense_Mutation SNP T T G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:52505549T>G ENST00000216286.5 - 9 2172 c.2173A>C c.(2173-2175)Aac>Cac p.N725H NID2_ENST00000541773.1_Missense_Mutation_p.N672H NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 725 Nidogen G2 beta-barrel. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) CGGTCCACGTTCAGCTGCTGG 0.512000 17 115 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50048763 50048763 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr20:50048763G>A ENST00000371564.3 - 9 2782 c.2563C>T c.(2563-2565)Ctg>Ttg p.L855L NFATC2_ENST00000414705.1_Silent_p.L835L|NFATC2_ENST00000396009.3_Silent_p.L855L NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 855 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) CCCGGGCTCAGCCTCTGACCT 0.592000 48 130 0 0 1 0 0 SNRPD2 6633 broad.mit.edu 37 19 46190861 46190861 + Missense_Mutation SNP C C A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:46190861C>A ENST00000342669.3 - 3 751 c.307G>T c.(307-309)Ggg>Tgg p.G103W SNRPD2_ENST00000588301.1_Missense_Mutation_p.G103W|SNRPD2_ENST00000587367.1_Missense_Mutation_p.G93W|SNRPD2_ENST00000585392.1_Missense_Mutation_p.G39W|SNRPD2_ENST00000391932.3_Missense_Mutation_p.G93W|SNRPD2_ENST00000590212.1_3'UTR|SNRPD2_ENST00000588599.1_Missense_Mutation_p.G93W NM_004597.5 NP_004588.1 P62316 SMD2_HUMAN small nuclear ribonucleoprotein D2 polypeptide 16.5kDa 103 ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex protein binding breast(1)|large_intestine(1)|lung(2) 4 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194) ACTGAGTCCCCGCGCAGGAAC 0.572000 38 54 1.04594e-18 1.10803e-18 1 1 0 PPCS 79717 broad.mit.edu 37 1 42922612 42922612 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:42922612C>T ENST00000372561.3 + 1 383 c.376C>T c.(376-378)Ccg>Tcg p.P126S PPCS_ENST00000372562.1_Intron|PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000455780.1_Intron|PPCS_ENST00000372556.3_Intron|PPCS_ENST00000372560.3_Missense_Mutation_p.P126S NM_024664.2 NP_078940.2 Q9HAB8 PPCS_HUMAN phosphopantothenoylcysteine synthetase 126 coenzyme biosynthetic process|pantothenate metabolic process cytosol phosphopantothenate--cysteine ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3) 12 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GAATGCACTTCCGGGTTTTGC 0.622000 23 81 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179434096 179434096 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:179434096C>T ENST00000589042.1 - 326 76987 c.76763G>A c.(76762-76764)gGa>gAa p.G25588E TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G23020E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16648E|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G16715E|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G16523E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G23947E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23947 Fibronectin type-III 86. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGACTTTGTTCCACTGCTGTT 0.398000 52 137 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196311216 196311216 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:196311216G>A ENST00000367433.5 - 15 1647 c.1546C>T c.(1546-1548)Cac>Tac p.H516Y KCNT2_ENST00000367431.4_Intron|KCNT2_ENST00000294725.8_Missense_Mutation_p.H516Y|KCNT2_ENST00000451324.2_Missense_Mutation_p.H127Y|KCNT2_ENST00000498426.1_5'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 516 RCK N-terminal. voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TACTTTTTGTGTGCATGGAAA 0.323000 7 53 0 0 1 0 0 PLA2G3 50487 broad.mit.edu 37 22 31531775 31531775 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr22:31531775G>A ENST00000215885.3 - 7 1716 c.1464C>T c.(1462-1464)aaC>aaT p.N488N NM_015715.3 NP_056530.2 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III 488 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 GCAGGCACTGGTTGTAGAATG 0.602000 124 44 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56462777 56462777 + Missense_Mutation SNP T T C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:56462777T>C ENST00000370754.5 - 47 11862 c.11863A>G c.(11863-11865)Agc>Ggc p.S3955G DST_ENST00000361203.3_Missense_Mutation_p.S3775G|DST_ENST00000244364.6_Missense_Mutation_p.S1363G|DST_ENST00000370769.4_Missense_Mutation_p.S3777G|DST_ENST00000421834.2_Missense_Mutation_p.S1689G|DST_ENST00000370788.2_Missense_Mutation_p.S1689G|DST_ENST00000446842.2_Missense_Mutation_p.S3451G|DST_ENST00000312431.6_Missense_Mutation_p.S3775G Q03001 DYST_HUMAN dystonin 3775 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTGGTTTTGCTCTCTTCCAGC 0.438000 23 42 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 96051636 96051636 + Translation_Start_Site SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr9:96051636G>A ENST00000356055.3 + 0 4600 WNK2_ENST00000349097.3_Missense_Mutation_p.D1183N|WNK2_ENST00000395477.2_Missense_Mutation_p.D1534N|WNK2_ENST00000297954.4_Missense_Mutation_p.D1571N|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.D1146N Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 CCTGGAGTCGGATGGGGAAGG 0.706000 5 36 0 0 1 0 0 ZC3H3 23144 broad.mit.edu 37 8 144522426 144522426 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr8:144522426G>A ENST00000262577.5 - 11 2631 c.2600C>T c.(2599-2601)cCc>cTc p.P867L NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 867 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) CGAGGATGAGGGAGAGGCTGA 0.677000 6 12 0 0 1 0 0 JSRP1 126306 broad.mit.edu 37 19 2255220 2255220 + Nonsense_Mutation SNP C C A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:2255220C>A ENST00000300961.5 - 2 158 c.94G>T c.(94-96)Gag>Tag p.E32* JSRP1_ENST00000586471.1_Nonsense_Mutation_p.E32* NM_144616.3 NP_653217.1 Q96MG2 JSPR1_HUMAN junctional sarcoplasmic reticulum protein 1 32 Mediates interaction with CACNA1S (By similarity). sarcoplasmic reticulum membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1) 6 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCCTGTCCTCCTGGGTCTCG 0.647000 9 59 0.00448238 0.00451155 1 1 0 KCND3 3752 broad.mit.edu 37 1 112524968 112524968 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:112524968G>A ENST00000369697.1 - 1 450 c.381C>T c.(379-381)atC>atT p.I127I KCND3_ENST00000302127.4_Silent_p.I127I|KCND3_ENST00000315987.2_Silent_p.I127I Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 127 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) AGTCCCCGATGATCTCCGGGA 0.607000 27 51 0 0 1 0 0 ZNF300 91975 broad.mit.edu 37 5 150275188 150275188 + Missense_Mutation SNP C C A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:150275188C>A ENST00000446148.2 - 7 2088 c.1661G>T c.(1660-1662)gGa>gTa p.G554V ZNF300_ENST00000274599.5_Missense_Mutation_p.G538V|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.G538V|ZNF300_ENST00000418587.2_Missense_Mutation_p.G502V NM_001172831.1 NP_001166302.1 Q96RE9 ZN300_HUMAN zinc finger protein 300 538 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCGCTGGTGTCCCGGAAGGTG 0.423000 19 36 3.57192e-18 3.77534e-18 1 1 0 KRT38 8687 broad.mit.edu 37 17 39596836 39596836 + Missense_Mutation SNP T T G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:39596836T>G ENST00000246646.3 - 1 337 c.338A>C c.(337-339)gAc>gCc p.D113A NM_006771.3 NP_006762.3 O76015 KRT38_HUMAN keratin 38 113 Coil 1A.|Rod. D -> G (in Ref. 6; CAH10351). intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) GGCCAGGCGGTCATTCAGGAA 0.587000 72 61 0 0 1 0 0 WDR59 79726 broad.mit.edu 37 16 74923643 74923643 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr16:74923643G>A ENST00000262144.6 - 21 2283 c.2153C>T c.(2152-2154)cCc>cTc p.P718L NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 718 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 TCGAGCCCAGGGTGTTTCCAA 0.463000 17 61 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14508057 14508057 + Silent SNP T T G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:14508057T>G ENST00000344204.4 + 57 8844 c.8820T>G c.(8818-8820)gcT>gcG p.A2940A TRIO_ENST00000344135.5_Silent_p.A439A|TRIO_ENST00000537187.1_Silent_p.A2764A NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2940 Protein kinase. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) TTGGAGATGCTGTTCAGCTCA 0.498000 9 54 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19747328 19747328 + Missense_Mutation SNP G G C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:19747328G>C ENST00000507958.1 - 6 1236 c.246C>G c.(244-246)gaC>gaG p.D82E CDH18_ENST00000502796.1_Missense_Mutation_p.D82E|CDH18_ENST00000274170.4_Missense_Mutation_p.D82E|CDH18_ENST00000506372.1_Missense_Mutation_p.D82E|CDH18_ENST00000382275.1_Missense_Mutation_p.D82E|CDH18_ENST00000511273.1_Missense_Mutation_p.D82E Q13634 CAD18_HUMAN cadherin 18, type 2 82 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) CATCACCTTTGTCAGAATTGG 0.383000 17 56 0 0 1 0 0 PIWIL1 9271 broad.mit.edu 37 12 130847658 130847658 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:130847658G>A ENST00000245255.3 + 18 2436 c.2164G>A c.(2164-2166)Gat>Aat p.D722N NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 722 Piwi. gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) ACAGTTTTTGGATTGTCTAAA 0.423000 17 80 0 0 1 0 0 ITGA11 22801 broad.mit.edu 37 15 68642977 68642977 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr15:68642977C>T ENST00000423218.2 - 9 1133 c.1038G>A c.(1036-1038)ggG>ggA p.G346G ITGA11_ENST00000315757.7_Silent_p.G346G Q9UKX5 ITA11_HUMAN integrin, alpha 11 346 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) AGATTCTGTCCCCCAGGGCAT 0.483000 22 48 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 92982920 92982920 + Missense_Mutation SNP A A T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr8:92982920A>T ENST00000523629.1 - 11 1959 c.1505T>A c.(1504-1506)cTg>cAg p.L502Q RUNX1T1_ENST00000396218.1_Missense_Mutation_p.L475Q|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.L465Q|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.L502Q|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.L513Q|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.L475Q|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.L465Q|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.L465Q NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 502 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) GATAACTGCCAGTGCGTCCTC 0.537000 32 21 0 0 1 0 0 KIAA0226 9711 broad.mit.edu 37 3 197409405 197409405 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:197409405G>A ENST00000273582.5 - 15 2472 c.1927C>T c.(1927-1929)Cgt>Tgt p.R643C KIAA0226_ENST00000389665.5_Missense_Mutation_p.R713C|KIAA0226_ENST00000296343.5_Missense_Mutation_p.R688C NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 688 autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) AAGTTGCCACGAACACGAATC 0.577000 31 45 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7674161 7674161 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:7674161G>A ENST00000572933.1 + 27 5732 c.4272G>A c.(4270-4272)aaG>aaA p.K1424K DNAH2_ENST00000389173.2_Silent_p.K1424K Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1424 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCTTTGAGAAGGATGTGGACC 0.493000 39 117 0 0 1 0 0 ACTN4 81 broad.mit.edu 37 19 39212329 39212329 + Splice_Site SNP G G A rs111813739 TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:39212329G>A ENST00000252699.2 + 12 1518 c.e12+1 ACTN4_ENST00000390009.3_Splice_Site|ACTN4_ENST00000424234.2_Intron NM_004924.4 NP_004915.2 O43707 ACTN4_HUMAN actinin, alpha 4 platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3) 30 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) AGGAGCTCAAGTACGTGCGGG 0.652000 21 57 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74507120 74507120 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:74507120C>T ENST00000354431.4 - 7 1686 c.1495G>A c.(1495-1497)Gag>Aag p.E499K LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E499K NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 499 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 GCTTTTCTCTCTCTAGCTTTT 0.338000 26 63 0 0 1 0 0 SH3GL1 6455 broad.mit.edu 37 19 4364187 4364187 + Missense_Mutation SNP C C A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:4364187C>A ENST00000269886.3 - 5 541 c.363G>T c.(361-363)atG>atT p.M121I SH3GL1_ENST00000598564.1_Intron|AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000417295.2_Missense_Mutation_p.M73I NM_003025.3 NP_003016.1 Q99961 SH3G1_HUMAN SH3-domain GRB2-like 1 121 BAR. central nervous system development|endocytosis|signal transduction early endosome membrane lipid binding|protein binding NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182) CCAGGCGCTTCATGGACTCGC 0.587000 T MLL AL 25 75 3.28513e-13 3.41006e-13 1 1 0 SVEP1 79987 broad.mit.edu 37 9 113265480 113265480 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr9:113265480G>A ENST00000401783.2 - 6 1657 c.1321C>T c.(1321-1323)Ctc>Ttc p.L441F SVEP1_ENST00000374461.1_Missense_Mutation_p.L418F|SVEP1_ENST00000374469.1_Missense_Mutation_p.L418F|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.L441F NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 441 Sushi 2. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GGCTGGCGGAGATGAGGACAT 0.373000 52 52 0 0 1 0 0 HHLA2 11148 broad.mit.edu 37 3 108072446 108072446 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:108072446C>T ENST00000357759.5 + 4 651 c.237C>T c.(235-237)gaC>gaT p.D79D HHLA2_ENST00000467761.1_Silent_p.D79D|HHLA2_ENST00000489514.2_Silent_p.D79D|HHLA2_ENST00000467562.1_Intron|HHLA2_ENST00000491820.1_Silent_p.D79D NM_007072.2 NP_009003.1 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 79 Ig-like V-type 1. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 AAGGCAGTGACCATTTGGAAA 0.398000 12 64 0 0 1 0 0 GALT 2592 broad.mit.edu 37 9 34649004 34649004 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr9:34649004C>T ENST00000378842.3 + 9 872 c.830C>T c.(829-831)tCc>tTc p.S277F GALT_ENST00000450095.2_Missense_Mutation_p.S168F|GALT_ENST00000556278.1_Intron|GALT_ENST00000488412.2_3'UTR NM_000155.3 NP_000146.2 P07902 GALT_HUMAN galactose-1-phosphate uridylyltransferase 277 galactose catabolic process cytosol UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1) 16 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.173) GATCTAGCCTCCATCATGAAG 0.517000 Galactosemia 94 134 0 0 1 0 0 XPOT 11260 broad.mit.edu 37 12 64827280 64827280 + Missense_Mutation SNP T T G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:64827280T>G ENST00000332707.5 + 19 2878 c.2349T>G c.(2347-2349)aaT>aaG p.N783K NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 783 Necessary for tRNA-binding, cytoplasmic localization and nuclear export. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) CAGAAGAAAATGACCAGTCTG 0.453000 38 158 0 0 1 0 0 LRRC37A16P 651250 broad.mit.edu 37 17 66131141 66131141 + RNA SNP A A G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:66131141A>G ENST00000590019.1 - 0 298 GGTCTCCAGGAGGTTGTGCAT 0.612000 7 13 0 0 1 0 0 UBN2 254048 broad.mit.edu 37 7 138921784 138921784 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:138921784G>A ENST00000288561.8 + 2 502 c.253G>A c.(253-255)Gat>Aat p.D85N UBN2_ENST00000473989.2_Missense_Mutation_p.D168N NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 168 Pro-rich. NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 CCCATTTAATGATGAACATCA 0.323000 25 145 0 0 1 0 0 KCNA7 3743 broad.mit.edu 37 19 49573937 49573937 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:49573937G>A ENST00000221444.1 - 2 1109 c.754C>T c.(754-756)Ccc>Tcc p.P252S NM_031886.2 NP_114092.2 Q96RP8 KCNA7_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 7 252 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) ACAAAGTAGGGAAGGATAGCC 0.567000 37 93 0 0 1 0 0 ERCC6 2074 broad.mit.edu 37 10 50708721 50708721 + Missense_Mutation SNP C C A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr10:50708721C>A ENST00000355832.5 - 7 1626 c.1548G>T c.(1546-1548)agG>agT p.R516S ERCC6_ENST00000542458.1_5'UTR NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 516 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CCCACAGCCACCTAACACCTG 0.453000 Direct reversal of damage;Nucleotide excision repair (NER) 18 56 0.000132079 0.000133518 1 1 0 NHSL2 340527 broad.mit.edu 37 X 71360307 71360307 + Missense_Mutation SNP G G C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:71360307G>C ENST00000373677.1 + 2 3073 c.1811G>C c.(1810-1812)aGt>aCt p.S604T NHSL2_ENST00000510661.1_Missense_Mutation_p.S739T|NHSL2_ENST00000535692.1_Missense_Mutation_p.S604T|NHSL2_ENST00000540800.1_Missense_Mutation_p.S970T F5H593 F5H593_HUMAN NHS-like 2 970 NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1) 28 Renal(35;0.156) CCCCAGGGAAGTGTAGAGGAC 0.537000 4 16 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38655486 38655486 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:38655486C>T ENST00000222345.6 + 15 4657 c.4148C>T c.(4147-4149)tCc>tTc p.S1383F NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 1383 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CTGTACTCCTCCGGCTCCAGC 0.687000 23 20 0 0 1 0 0 FAHD2B 151313 broad.mit.edu 37 2 97751483 97751483 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:97751483G>A ENST00000414820.1 - 6 908 c.638C>T c.(637-639)aCc>aTc p.T213I FAHD2B_ENST00000272610.3_Missense_Mutation_p.T213I|FAHD2B_ENST00000440566.2_Missense_Mutation_p.T213I Q6P2I3 FAH2B_HUMAN fumarylacetoacetate hydrolase domain containing 2B 213 hydrolase activity|metal ion binding kidney(5)|large_intestine(2)|lung(3)|skin(2) 12 AGGGCAGAAGGTGTCGAAGGT 0.592000 43 71 0 0 1 0 0 PLXNB2 23654 broad.mit.edu 37 22 50722577 50722577 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr22:50722577G>A ENST00000449103.1 - 13 2387 c.2247C>T c.(2245-2247)atC>atT p.I749I PLXNB2_ENST00000496720.1_5'UTR|PLXNB2_ENST00000359337.4_Silent_p.I749I O15031 PLXB2_HUMAN plexin B2 749 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GCTTGCTGTCGATATTCTTGC 0.682000 61 37 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 72 84 0 0 1 0 0 OR6C1 390321 broad.mit.edu 37 12 55715094 55715094 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:55715094C>T ENST00000379668.2 + 1 749 c.711C>T c.(709-711)tcC>tcT p.S237S NM_001005182.1 NP_001005182.1 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, member 1 237 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 AGGCCTTTTCCACATGTTCTT 0.383000 22 21 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146471421 146471421 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:146471421C>T ENST00000361727.3 + 2 672 c.156C>T c.(154-156)tcC>tcT p.S52S NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 52 F5/8 type C. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GCAGCTCCTCCTCCATCTCTG 0.428000 HNSCC(39;0.1) 26 31 0 0 1 0 0 NHSL2 340527 broad.mit.edu 37 X 71359783 71359783 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:71359783G>A ENST00000373677.1 + 2 2549 c.1287G>A c.(1285-1287)aaG>aaA p.K429K NHSL2_ENST00000510661.1_Silent_p.K564K|NHSL2_ENST00000535692.1_Silent_p.K429K|NHSL2_ENST00000540800.1_Silent_p.K795K F5H593 F5H593_HUMAN NHS-like 2 795 NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1) 28 Renal(35;0.156) GCAAAACTAAGGTGAGTCGGC 0.488000 11 20 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136590601 136590601 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:136590601C>T ENST00000531224.1 - 9 2445 c.2193G>A c.(2191-2193)aaG>aaA p.K731K BCLAF1_ENST00000527759.1_Silent_p.K729K|BCLAF1_ENST00000392348.2_Silent_p.K729K|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Silent_p.K731K|BCLAF1_ENST00000530767.1_Silent_p.K558K|BCLAF1_ENST00000353331.4_Silent_p.K729K NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 731 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) ATTTGTATTCCTTGTAATCTT 0.368000 4 44 0 0 1 0 0 ASB5 140458 broad.mit.edu 37 4 177142371 177142371 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr4:177142371C>T ENST00000296525.3 - 5 718 c.605G>A c.(604-606)gGa>gAa p.G202E ASB5_ENST00000512254.1_Missense_Mutation_p.G149E NM_080874.3 NP_543150.1 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box containing 5 202 intracellular signal transduction endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) GAGAGGAGTTCCCAAATGAGG 0.403000 31 28 0 0 1 0 0 GPR63 81491 broad.mit.edu 37 6 97247435 97247435 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:97247435G>A ENST00000229955.3 - 2 518 c.173C>T c.(172-174)tCc>tTc p.S58F GPR63_ENST00000417980.1_Missense_Mutation_p.S58F NM_001143957.2|NM_030784.3 NP_001137429.1|NP_110411.1 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 58 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) CACGGTCAAGGAACTCAAACC 0.438000 46 30 0 0 1 0 0 OR4K14 122740 broad.mit.edu 37 14 20482523 20482523 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:20482523G>A ENST00000305045.2 - 1 829 c.830C>T c.(829-831)aCc>aTc p.T277I NM_001004712.1 NP_001004712.1 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, member 14 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6) 37 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) AGTAAAAATGGTATAAAACAC 0.428000 24 94 0 0 1 0 0 LILRB1 10859 broad.mit.edu 37 19 55143065 55143065 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:55143065G>A ENST00000396331.1 + 5 542 c.185G>A c.(184-186)aGa>aAa p.R62K LILRB1_ENST00000434867.2_Missense_Mutation_p.R62K|LILRB1_ENST00000396317.1_Missense_Mutation_p.R62K|LILRB1_ENST00000396321.2_Missense_Mutation_p.R62K|LILRB1_ENST00000396327.3_Missense_Mutation_p.R62K|LILRB1_ENST00000427581.2_Missense_Mutation_p.R98K|LILRB1_ENST00000396315.1_Missense_Mutation_p.R62K|LILRB1_ENST00000396332.4_Missense_Mutation_p.R62K|LILRB1_ENST00000418536.2_Missense_Mutation_p.R62K|LILRB1_ENST00000324602.7_Missense_Mutation_p.R62K|LILRB1_ENST00000448689.1_Missense_Mutation_p.R62K NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 62 Ig-like C2-type 1. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CGTCTATATAGAGAAAAGAAA 0.582000 HNSCC(37;0.09) 84 97 0 0 1 0 0 BNIP3P1 319138 broad.mit.edu 37 14 28733889 28733889 + RNA SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:28733889G>A ENST00000550043.1 + 0 294 TGGTGACATGGAAAAAATACT 0.507000 39 60 0 0 1 0 0 IZUMO1 284359 broad.mit.edu 37 19 49245503 49245503 + Missense_Mutation SNP T T G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:49245503T>G ENST00000332955.2 - 7 1110 c.563A>C c.(562-564)cAg>cCg p.Q188P NM_182575.2 NP_872381.2 Q8IYV9 IZUM1_HUMAN izumo sperm-egg fusion 1 188 Ig-like C2-type. fusion of sperm to egg plasma membrane integral to membrane endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) TTCCGAAGCCTGATGCCAGTT 0.493000 32 129 0 0 1 0 0 IRF3 3661 broad.mit.edu 37 19 50165248 50165248 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:50165248C>T ENST00000597198.1 - 6 1320 c.939G>A c.(937-939)aaG>aaA p.K313K IRF3_ENST00000593922.1_Silent_p.K167K|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000598808.1_Silent_p.K167K|IRF3_ENST00000600911.1_Silent_p.K313K|IRF3_ENST00000601291.1_Silent_p.K313K|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000377139.3_Silent_p.K313K|IRF3_ENST00000599144.1_Silent_p.K167K|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000309877.7_Silent_p.K313K|IRF3_ENST00000596822.1_Intron Q14653 IRF3_HUMAN interferon regulatory factor 3 313 Involved in HERC5 binding. interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1) 10 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02) CTTCCTTGTCCTTGGGGACCT 0.627000 65 200 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41160444 41160444 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:41160444C>T ENST00000263413.3 - 11 1748 c.1484G>A c.(1483-1485)aGa>aAa p.R495K C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.R495K NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 495 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GGGGATGTTTCTTACCAAGTC 0.502000 52 79 0 0 1 0 0 BSDC1 55108 broad.mit.edu 37 1 32842193 32842193 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:32842193G>A ENST00000341071.7 - 9 888 c.877C>T c.(877-879)Cca>Tca p.P293S BSDC1_ENST00000419121.2_Missense_Mutation_p.P220S|BSDC1_ENST00000455895.2_Missense_Mutation_p.P276S|BSDC1_ENST00000413080.1_Missense_Mutation_p.P215S|BSDC1_ENST00000449308.1_Missense_Mutation_p.P276S|BSDC1_ENST00000446293.2_Missense_Mutation_p.P293S|BSDC1_ENST00000526031.1_Missense_Mutation_p.P181S Q9NW68 BSDC1_HUMAN BSD domain containing 1 276 protein binding p.P293S(2) breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CTCTCTGATGGAGTCACCTCT 0.567000 35 122 0 0 1 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215876 20215876 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:20215876G>A ENST00000331723.1 + 1 290 c.290G>A c.(289-291)gGa>gAa p.G97E NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCTTTTTCAGGATGCCTGGCC 0.473000 23 94 0 0 1 0 0 MTMR11 10903 broad.mit.edu 37 1 149908093 149908093 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:149908093G>A ENST00000439741.2 - 2 346 c.96C>T c.(94-96)ccC>ccT p.P32P MTMR11_ENST00000361405.6_Silent_p.P32P|MTMR11_ENST00000369140.3_5'UTR|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_Silent_p.P4P NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 32 phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) GACGACTCCTGGGCTCCGGCA 0.557000 98 46 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44685155 44685155 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr20:44685155C>T ENST00000454036.1 + 23 3207 c.3131C>T c.(3130-3132)cCc>cTc p.P1044L SLC12A5_ENST00000243964.3_Missense_Mutation_p.P1021L NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 1044 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) AATAAGGGCCCCAGTCCTGTC 0.612000 18 99 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40408594 40408594 + Silent SNP G G A rs141092836 TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:40408594G>A ENST00000221347.6 - 8 4252 c.4245C>T c.(4243-4245)ttC>ttT p.F1415F NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 1415 VWFD 3. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) AGGAGTTGCCGAACTCATTGG 0.632000 23 73 0 0 1 0 0 COL20A1 57642 broad.mit.edu 37 20 61952392 61952392 + Missense_Mutation SNP G G C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr20:61952392G>C ENST00000422202.1 + 25 3270 c.3202G>C c.(3202-3204)Gtg>Ctg p.V1068L COL20A1_ENST00000358894.6_Missense_Mutation_p.V1061L|COL20A1_ENST00000435874.1_Missense_Mutation_p.V1068L|COL20A1_ENST00000326996.6_Missense_Mutation_p.V1061L Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 1061 cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) CCCCGCCTTCGTGTCTGCCTG 0.607000 18 7 0 0 1 0 0 SH2B1 25970 broad.mit.edu 37 16 28877922 28877922 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr16:28877922C>T ENST00000337120.5 + 1 3798 c.507C>T c.(505-507)atC>atT p.I169I SH2B1_ENST00000359285.5_Silent_p.I169I|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000395532.4_Silent_p.I169I|SH2B1_ENST00000322610.8_Silent_p.I169I|SH2B1_ENST00000563674.1_Intron NM_001145812.1|NM_015503.2 NP_001139284.1|NP_056318.2 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 169 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (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 TCCGTGGCATCCTGCAGTGGC 0.622000 26 63 0 0 1 0 0 DNAJC21 134218 broad.mit.edu 37 5 34933922 34933922 + Nonsense_Mutation SNP A A T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:34933922A>T ENST00000382021.2 + 2 327 c.100A>T c.(100-102)Aaa>Taa p.K34* DNAJC21_ENST00000303525.7_Nonsense_Mutation_p.K34*|DNAJC21_ENST00000342382.4_Nonsense_Mutation_p.K34* NM_194283.3 NP_919259.3 Q5F1R6 DJC21_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 21 34 J. protein folding ribosome heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) TTTAACAGATAAAAATCTGGA 0.378000 31 24 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116594303 116594303 + Silent SNP A A C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:116594303A>C ENST00000410059.1 + 24 2643 c.2163A>C c.(2161-2163)atA>atC p.I721I DPP10_ENST00000393147.2_Silent_p.I725I|DPP10_ENST00000409163.1_Silent_p.I671I|DPP10_ENST00000310323.8_Silent_p.I714I NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 721 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 ATATATTAATAATTCATGGAA 0.348000 35 120 0 0 1 0 0 INSR 3643 broad.mit.edu 37 19 7168070 7168070 + Missense_Mutation SNP T T C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:7168070T>C ENST00000341500.5 - 7 1558 c.1519A>G c.(1519-1521)Aca>Gca p.T507A INSR_ENST00000302850.5_Missense_Mutation_p.T507A NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 507 activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCAAAAGATGTCCGAATGTAA 0.433000 15 54 0 0 1 0 0 LRP8 7804 broad.mit.edu 37 1 53755252 53755252 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:53755252G>A ENST00000306052.6 - 3 455 c.354C>T c.(352-354)tcC>tcT p.S118S LRP8_ENST00000371454.2_Silent_p.S118S|LRP8_ENST00000354412.3_Silent_p.S118S|LRP8_ENST00000347547.2_Silent_p.S118S|LRP8_ENST00000465675.1_5'UTR|RP4-784A16.2_ENST00000421637.1_RNA NM_004631.4 NP_004622.2 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 8, apolipoprotein e receptor 118 LDL-receptor class A 2. cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 AAGTGGCCTCGGACTCATCGG 0.602000 7 8 0 0 1 0 0 BCL9L 283149 broad.mit.edu 37 11 118772217 118772217 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:118772217G>A ENST00000334801.3 - 6 3199 c.2235C>T c.(2233-2235)ggC>ggT p.G745G BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 745 Met-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GGAGGCCCCGGCCTCCACCAA 0.637000 35 94 0 0 1 0 0 ARHGEF37 389337 broad.mit.edu 37 5 149006709 149006709 + Missense_Mutation SNP A A T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:149006709A>T ENST00000333677.6 + 11 1698 c.1535A>T c.(1534-1536)cAg>cTg p.Q512L NM_001001669.2 NP_001001669.2 A1IGU5 ARH37_HUMAN Rho guanine nucleotide exchange factor (GEF) 37 512 SH3 1. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3) 17 AAGCTGTACCAGGTGACAAGC 0.587000 4 170 0 0 1 0 0 NUAK2 81788 broad.mit.edu 37 1 205290681 205290681 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:205290681C>T ENST00000367157.3 - 1 202 c.76G>A c.(76-78)Ggg>Agg p.G26R NM_030952.1 NP_112214.1 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 26 actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) TTGATCAGCCCTTCCGCCAGC 0.672000 13 60 0 0 1 0 0 ZBED6CL 113763 broad.mit.edu 37 7 150027740 150027740 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:150027740G>A ENST00000343855.4 + 1 803 c.247G>A c.(247-249)Ggg>Agg p.G83R LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000359623.4_Intron NM_138434.2 NP_612443.1 ZBED6 C-terminal like TTGCTTCAAGGGGAAGATTGA 0.567000 41 213 0 0 1 0 0 ZNF880 400713 broad.mit.edu 37 19 52876394 52876394 + Nonsense_Mutation SNP G G T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:52876394G>T ENST00000422689.2 + 2 58 c.43G>T c.(43-45)Gaa>Taa p.E15* ZNF880_ENST00000595099.1_3'UTR|ZNF880_ENST00000344085.5_Nonsense_Mutation_p.E15*|ZNF880_ENST00000597976.1_Nonsense_Mutation_p.E15*|ZNF880_ENST00000600321.1_Nonsense_Mutation_p.E15*|ZNF880_ENST00000424032.2_Nonsense_Mutation_p.E15* NM_001145434.1 NP_001138906.1 Q6PDB4 ZN880_HUMAN zinc finger protein 880 15 KRAB. regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 CGTGGCCATAGAATTCCCTCA 0.463000 24 130 9.80776e-20 1.04137e-19 1 1 0 MSH2 4436 broad.mit.edu 37 2 47703538 47703538 + Nonsense_Mutation SNP C C T rs63749932 TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:47703538C>T ENST00000406134.1 + 13 2100 c.2038C>T c.(2038-2040)Cga>Tga p.R680* MSH2_ENST00000543555.1_Nonsense_Mutation_p.R614*|MSH2_ENST00000233146.2_Nonsense_Mutation_p.R680* P43246 MSH2_HUMAN mutS homolog 2 680 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.R680*(4)|p.0?(2)|p.?(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AACATATATTCGACAAACTGG 0.398000 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 17 44 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10310251 10310251 + Missense_Mutation SNP G G T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:10310251G>T ENST00000403437.2 - 18 2105 c.2011C>A c.(2011-2013)Cac>Aac p.H671N CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 671 Actin-binding.|Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle p.H671Y(1) NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CGTACGAAGTGAGGGTGTGTG 0.383000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 11 39 1.08611e-07 1.10516e-07 1 1 0 LRRTM4 80059 broad.mit.edu 37 2 77745537 77745537 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:77745537C>T ENST00000409088.3 - 3 1872 c.1458G>A c.(1456-1458)gtG>gtA p.V486V LRRTM4_ENST00000409884.1_Silent_p.V486V|LRRTM4_ENST00000409093.1_Silent_p.V486V|LRRTM4_ENST00000409911.1_Silent_p.V487V|LRRTM4_ENST00000409282.1_Silent_p.V487V NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 486 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) GCTTGTAGTCCACATAATACT 0.458000 8 38 0 0 1 0 0 PKD2L2 27039 broad.mit.edu 37 5 137235267 137235267 + Missense_Mutation SNP G G C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:137235267G>C ENST00000508638.1 + 5 642 c.587G>C c.(586-588)cGa>cCa p.R196P PKD2L2_ENST00000502810.1_Missense_Mutation_p.R196P|PKD2L2_ENST00000290431.5_Missense_Mutation_p.R196P|PKD2L2_ENST00000350250.4_Missense_Mutation_p.R162P|PKD2L2_ENST00000508883.1_Missense_Mutation_p.R196P NM_001258449.1 NP_001245378.1 Q9NZM6 PK2L2_HUMAN polycystic kidney disease 2-like 2 196 integral to membrane calcium ion binding|ion channel activity breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GGTGTTTACCGAAATGGGGGA 0.383000 18 44 0 0 1 0 0 DNER 92737 broad.mit.edu 37 2 230377642 230377642 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:230377642G>A ENST00000341772.4 - 6 1138 c.1004C>T c.(1003-1005)tCc>tTc p.S335F NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 335 EGF-like 3. central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) ACAGGTACAGGAAAAAGTTGC 0.438000 8 41 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15806988 15806988 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:15806988G>A ENST00000550308.1 + 11 1647 c.1267G>A c.(1267-1269)Gat>Aat p.D423N CYP4F12_ENST00000324632.9_Missense_Mutation_p.D423N NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CTGCCTCATCGATATTATAGG 0.572000 33 137 0 0 1 0 0 MARCH1 55016 broad.mit.edu 37 4 164507014 164507014 + Missense_Mutation SNP G G A rs146337383 TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr4:164507014G>A ENST00000503008.1 - 6 1286 c.310C>T c.(310-312)Cgc>Tgc p.R104C MARCH1_ENST00000514618.1_Missense_Mutation_p.R360C|MARCH1_ENST00000339875.5_Missense_Mutation_p.R87C|MARCH1_ENST00000274056.7_Missense_Mutation_p.R104C NM_001166373.1 NP_001159845.1 Q8TCQ1 MARH1_HUMAN membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 104 antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TGGACAAAGCGCAGTGTCCCA 0.527000 22 36 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86622031 86622031 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:86622031C>T ENST00000370571.2 - 1 415 c.49G>A c.(49-51)Gca>Aca p.A17T COL24A1_ENST00000485434.1_5'UTR|COL24A1_ENST00000436319.1_Missense_Mutation_p.A17T NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 17 cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TACGTTTTTGCCGTGGGGGAG 0.542000 4 174 0 0 1 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711759 155711759 + Silent SNP A A T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:155711759A>T ENST00000295101.2 + 3 1917 c.1440A>T c.(1438-1440)ggA>ggT p.G480G NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 480 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) TGGCTGGAGGAGCAGCTAGGA 0.423000 7 31 0 0 1 0 0 NUMB 8650 broad.mit.edu 37 14 73750930 73750930 + Missense_Mutation SNP G G C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:73750930G>C ENST00000556772.1 - 4 2663 c.376C>G c.(376-378)Cag>Gag p.Q126E NUMB_ENST00000559312.1_Intron|NUMB_ENST00000560335.1_Intron|NUMB_ENST00000557597.1_Missense_Mutation_p.Q259E|NUMB_ENST00000454166.4_Intron|NUMB_ENST00000555738.2_Intron|NUMB_ENST00000359560.3_Missense_Mutation_p.Q259E|NUMB_ENST00000555394.1_Missense_Mutation_p.Q270E|NUMB_ENST00000555238.1_Missense_Mutation_p.Q270E|NUMB_ENST00000356296.4_Missense_Mutation_p.Q270E|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000554546.1_Missense_Mutation_p.Q259E|NUMB_ENST00000355058.3_Missense_Mutation_p.Q270E|NUMB_ENST00000535282.1_Missense_Mutation_p.Q259E|NUMB_ENST00000544991.3_Intron P49757 NUMB_HUMAN numb homolog (Drosophila) 270 PID. axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis integral to plasma membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161) CGAGCAAGCTGTTCAATTGGA 0.532000 32 115 0 0 1 0 0 HDAC6 10013 broad.mit.edu 37 X 48675031 48675031 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:48675031C>T ENST00000334136.5 + 19 1960 c.1782C>T c.(1780-1782)ctC>ctT p.L594L HDAC6_ENST00000376619.2_Silent_p.L594L|HDAC6_ENST00000444343.2_Silent_p.L608L Q9UBN7 HDAC6_HUMAN histone deacetylase 6 594 Histone deacetylase 2. aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) AGGCTGTGCTCTCAGGAGAGG 0.582000 21 8 0 0 1 0 0 GCM2 9247 broad.mit.edu 37 6 10874452 10874452 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:10874452G>A ENST00000379491.4 - 5 1444 c.1297C>T c.(1297-1299)Ccg>Tcg p.P433S RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron NM_004752.3 NP_004743.1 O75603 GCM2_HUMAN glial cells missing homolog 2 (Drosophila) 433 cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 30 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) ACTGTCACCGGAGGACCCCAG 0.547000 18 53 0 0 1 0 0 EXOG 9941 broad.mit.edu 37 3 38565421 38565421 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:38565421C>T ENST00000287675.5 + 6 771 c.675C>T c.(673-675)ccC>ccT p.P225P EXOG_ENST00000422077.2_Silent_p.P175P|EXOG_ENST00000358249.2_Silent_p.P85P NM_005107.3 NP_005098.2 Q9Y2C4 EXOG_HUMAN endo/exonuclease (5'-3'), endonuclease G-like 225 mitochondrial inner membrane endonuclease activity|metal ion binding|nucleic acid binding central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 17 TGGCAGTCCCCTCACACCTTT 0.478000 44 51 0 0 1 0 0 FTMT 94033 broad.mit.edu 37 5 121187822 121187822 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:121187822C>T ENST00000321339.1 + 1 173 c.164C>T c.(163-165)tCc>tTc p.S55F NM_177478.1 NP_803431.1 Q8N4E7 FTMT_HUMAN ferritin mitochondrial 55 cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) GCCGCCTCCTCCCGGGACCCT 0.761000 14 11 0 0 1 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7675465 7675465 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:7675465C>T ENST00000446248.2 + 8 1046 c.945C>T c.(943-945)tcC>tcT p.S315S CAMSAP3_ENST00000160298.4_Silent_p.S288S NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 288 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 GCCCCCTGTCCCTTGAGGACT 0.647000 53 164 0 0 1 0 0 ADCK2 90956 broad.mit.edu 37 7 140374045 140374045 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:140374045C>T ENST00000072869.4 + 1 1093 c.915C>T c.(913-915)ctC>ctT p.L305L ADCK2_ENST00000476491.1_Silent_p.L305L NM_052853.3 NP_443085.2 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 305 Protein kinase. integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) CCACCAACCTCATCTCCGTGG 0.557000 24 102 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57641084 57641084 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:57641084G>A ENST00000254181.4 + 4 1495 c.1041G>A c.(1039-1041)aaG>aaA p.K347K USP29_ENST00000598197.1_Silent_p.K347K NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 347 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CAAAGATCAAGAGAGAATTAC 0.383000 21 88 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13807752 13807752 + Missense_Mutation SNP T T G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:13807752T>G ENST00000265104.4 - 47 7939 c.7835A>C c.(7834-7836)cAc>cCc p.H2612P NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2612 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTTGATCATGTGACATTCAGG 0.378000 Kartagener syndrome 5 19 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121207090 121207090 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:121207090G>A ENST00000264233.5 - 16 4816 c.4688C>T c.(4687-4689)tCt>tTt p.S1563F NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1563 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) CATCTGAACAGAATCCATTTC 0.343000 DNA polymerases (catalytic subunits) 24 80 0 0 1 0 0 CAND1 55832 broad.mit.edu 37 12 67698933 67698933 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:67698933C>T ENST00000545606.1 + 10 1922 c.1485C>T c.(1483-1485)atC>atT p.I495I NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 495 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) ATTTGAAGATCGATGCTTTGT 0.398000 26 94 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54925303 54925303 + Missense_Mutation SNP T T A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:54925303T>A ENST00000293373.6 + 24 2712 c.2633T>A c.(2632-2634)cTt>cAt p.L878H NCKAP1L_ENST00000545638.2_Missense_Mutation_p.L828H NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 878 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 ATGGACATACTTGTTCAGATC 0.493000 80 103 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9061069 9061069 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:9061069G>A ENST00000397910.4 - 3 26580 c.26377C>T c.(26377-26379)Cat>Tat p.H8793Y NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8795 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCCCCAGAATGACCTGTTTTG 0.502000 67 74 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45394012 45394012 + Missense_Mutation SNP C C T rs143124929 TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr15:45394012C>T ENST00000389039.6 - 21 3215 c.2830G>A c.(2830-2832)Ggt>Agt p.G944S DUOX2_ENST00000603300.1_Missense_Mutation_p.G944S Q9NRD8 DUOX2_HUMAN dual oxidase 2 944 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CCACCTCCACCTTTGACACAG 0.582000 20 31 0 0 1 0 0 ZC4H2 55906 broad.mit.edu 37 X 64139075 64139075 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:64139075C>T ENST00000545618.1 - 5 956 c.393G>A c.(391-393)gaG>gaA p.E131E ZC4H2_ENST00000447788.2_Intron|ZC4H2_ENST00000374839.3_Silent_p.E136E|ZC4H2_ENST00000337990.2_Silent_p.E113E|ZC4H2_ENST00000488608.1_5'UTR Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing 136 metal ion binding|protein binding endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 CTTTCTGCTTCTCAAAGTAAC 0.532000 31 25 0 0 1 0 0 CTNND1 1500 broad.mit.edu 37 11 57564120 57564120 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:57564120G>A ENST00000524630.1 + 6 1125 c.612G>A c.(610-612)agG>agA p.R204R CTNND1_ENST00000428599.2_Silent_p.R204R|CTNND1_ENST00000361796.4_Silent_p.R204R|CTNND1_ENST00000529526.1_Silent_p.R150R|CTNND1_ENST00000360682.6_Silent_p.R204R|CTNND1_ENST00000361391.6_Silent_p.R204R|CTNND1_ENST00000528621.1_Silent_p.R150R|CTNND1_ENST00000529873.1_Silent_p.R150R|CTNND1_ENST00000529919.1_Silent_p.R204R|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000530748.1_Silent_p.R150R|CTNND1_ENST00000415361.2_Silent_p.R103R|CTNND1_ENST00000532649.1_Silent_p.R150R|CTNND1_ENST00000358694.6_Silent_p.R204R|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000534579.1_Silent_p.R150R|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000532463.1_Silent_p.R103R|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000532245.1_Silent_p.R103R|CTNND1_ENST00000530094.1_Silent_p.R103R|CTNND1_ENST00000528232.1_Silent_p.R103R|CTNND1_ENST00000526357.1_Silent_p.R150R|CTNND1_ENST00000529986.1_Silent_p.R103R|CTNND1_ENST00000361332.4_Silent_p.R204R|CTNND1_ENST00000426142.2_Silent_p.R103R|CTNND1_ENST00000532787.1_Silent_p.R103R|CTNND1_ENST00000526938.1_Silent_p.R204R|CTNND1_ENST00000532844.1_Silent_p.R150R|CTNND1_ENST00000399050.4_Silent_p.R204R|CTNND1_ENST00000399039.4_Silent_p.R204R O60716 CTND1_HUMAN catenin (cadherin-associated protein), delta 1 204 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2) 45 all_epithelial(135;0.155) CCCTTCCTAGGAACTTCCACT 0.522000 77 176 0 0 1 0 0 OR5K1 26339 broad.mit.edu 37 3 98188954 98188954 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:98188954C>T ENST00000332650.5 + 1 631 c.534C>T c.(532-534)taC>taT p.Y178Y NM_001004736.2 NP_001004736.2 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, member 1 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ACCACTTTTACTGTGATATTC 0.398000 116 171 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179399356 179399356 + Missense_Mutation SNP T T C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:179399356T>C ENST00000589042.1 - 358 102210 c.101986A>G c.(101986-101988)Aca>Gca p.T33996A TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T31428A|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T25056A|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T25123A|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T24931A|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T32355A|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32355 Ig-like 150. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CACATGTCTGTGGCTGTGCTG 0.468000 19 69 0 0 1 0 0 UBXN2A 165324 broad.mit.edu 37 2 24194228 24194228 + Nonsense_Mutation SNP G G T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:24194228G>T ENST00000309033.4 + 3 368 c.124G>T c.(124-126)Gag>Tag p.E42* UBXN2A_ENST00000404924.1_Nonsense_Mutation_p.E42*|UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000535786.1_Nonsense_Mutation_p.E42* NM_181713.3 NP_859064.2 P68543 UBX2A_HUMAN UBX domain protein 2A 42 endometrium(1)|large_intestine(3)|liver(1)|lung(6) 11 TAGCCTTTTTGAGGAAGCTCA 0.333000 37 84 3.76114e-14 3.93056e-14 1 1 0 PAK7 57144 broad.mit.edu 37 20 9546684 9546684 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr20:9546684C>T ENST00000378429.3 - 6 1884 c.1338G>A c.(1336-1338)agG>agA p.R446R PAK7_ENST00000378423.1_Silent_p.R446R|PAK7_ENST00000353224.5_Silent_p.R446R NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 446 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) CCAAGTATTCCCTGGGGTCTC 0.587000 45 94 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25475833 25475833 + RNA SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr15:25475833C>T ENST00000453082.2 + 0 1428 NR_003343.1 AGACTTCTGTCGGCCTCGCTT 0.617000 10 16 0 0 1 0 0 DKKL1 27120 broad.mit.edu 37 19 49878176 49878176 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:49878176G>A ENST00000221498.2 + 5 1025 c.620G>A c.(619-621)gGg>gAg p.G207E DKKL1_ENST00000594268.1_Missense_Mutation_p.G65E|AC010524.2_ENST00000599433.1_RNA NM_014419.3 NP_055234.1 Q9UK85 DKKL1_HUMAN dickkopf-like 1 207 anatomical structure morphogenesis extracellular space protein binding|signal transducer activity large_intestine(2)|upper_aerodigestive_tract(1) 3 all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456) CTCCGCAAGGGGACCCACAAG 0.667000 27 32 0 0 1 0 0 SLAMF9 89886 broad.mit.edu 37 1 159923405 159923405 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:159923405C>T ENST00000368093.3 - 2 201 c.85G>A c.(85-87)Gaa>Aaa p.E29K SLAMF9_ENST00000368092.3_Missense_Mutation_p.E29K NM_033438.3 NP_254273.2 Q96A28 SLAF9_HUMAN SLAM family member 9 29 integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCAACCACTTCCTCGGATCCA 0.532000 22 94 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9546683 9546683 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr20:9546683C>T ENST00000378429.3 - 6 1885 c.1339G>A c.(1339-1341)Gaa>Aaa p.E447K PAK7_ENST00000378423.1_Missense_Mutation_p.E447K|PAK7_ENST00000353224.5_Missense_Mutation_p.E447K NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 447 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GCCAAGTATTCCCTGGGGTCT 0.582000 48 94 0 0 1 0 0 DNAI1 27019 broad.mit.edu 37 9 34512373 34512373 + Silent SNP G G C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr9:34512373G>C ENST00000242317.4 + 15 1611 c.1440G>C c.(1438-1440)gtG>gtC p.V480V NM_012144.2 NP_036276.1 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 480 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1) 34 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) AGCTGAAGGTGGAAGGCAGCA 0.607000 Kartagener syndrome 22 60 0 0 1 0 0 HIST1H4I 8294 broad.mit.edu 37 6 27107294 27107294 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:27107294C>T ENST00000354348.2 + 1 219 c.207C>T c.(205-207)gaC>gaT p.D69D HIST1H2BK_ENST00000396891.4_Intron NM_003495.2 NP_003486.1 P62805 H4_HUMAN histone cluster 1, H4i 69 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding lung(1) 1 TGATCCGGGACGCCGTGACCT 0.657000 T BCL6 NHL 42 90 0 0 1 0 0 SLC44A5 204962 broad.mit.edu 37 1 75681480 75681480 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:75681480C>T ENST00000370855.5 - 19 1800 c.1687G>A c.(1687-1689)Gaa>Aaa p.E563K SLC44A5_ENST00000370859.3_Missense_Mutation_p.E563K|SLC44A5_ENST00000535611.1_Missense_Mutation_p.E433K NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 563 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 ATTGCATTTTCCAAACACCAG 0.338000 8 31 0 0 1 0 0 ANXA10 11199 broad.mit.edu 37 4 169049306 169049306 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr4:169049306C>T ENST00000359299.3 + 2 276 c.90C>T c.(88-90)ctC>ctT p.L30L NM_007193.4 NP_009124.2 Q9UJ72 ANX10_HUMAN annexin A10 30 calcium ion binding|calcium-dependent phospholipid binding endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2) 16 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0325) GAGGAGCACTCCAAGGATTTG 0.373000 6 39 0 0 1 0 0 F12 2161 broad.mit.edu 37 5 176831286 176831286 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:176831286C>T ENST00000253496.3 - 9 977 c.929G>A c.(928-930)aGg>aAg p.R310K NM_000505.3 NP_000496.2 P00748 FA12_HUMAN coagulation factor XII (Hageman factor) 310 Pro-rich. Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation extracellular space|plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 12 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) 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) GACATGAAGCCTAGGGGACAC 0.697000 Hereditary Angioedema OREG0017088 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 26 0 0 1 0 0 NUAK1 9891 broad.mit.edu 37 12 106500199 106500199 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:106500199G>A ENST00000261402.2 - 2 1724 c.345C>T c.(343-345)atC>atT p.I115I NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 115 Protein kinase. ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 AAATACTGATGATATGAGGAT 0.368000 7 30 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97823258 97823258 + Missense_Mutation SNP G G C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:97823258G>C ENST00000297293.5 + 11 3774 c.3481G>C c.(3481-3483)Gat>Cat p.D1161H NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 1161 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) GAGCCAGCCAGATGAAAGTTG 0.587000 18 90 0 0 1 0 0 TECPR2 9895 broad.mit.edu 37 14 102900832 102900832 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:102900832C>T ENST00000359520.7 + 9 1904 c.1678C>T c.(1678-1680)Ctg>Ttg p.L560L TECPR2_ENST00000558678.1_Silent_p.L560L NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 560 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 GCCTGATTCTCTGGCTGAGGA 0.512000 29 42 0 0 1 0 0 NPPA 4878 broad.mit.edu 37 1 11907408 11907408 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:11907408C>T ENST00000376480.3 - 2 310 c.212G>A c.(211-213)gGg>gAg p.G71E NPPA-AS1_ENST00000446542.1_RNA|NPPA_ENST00000376476.1_Missense_Mutation_p.G21E|NPPA-AS1_ENST00000400892.2_RNA NM_006172.3 NP_006163.1 P01160 ANF_HUMAN natriuretic peptide A 71 cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size extracellular region hormone activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GAGAGCAGCCCCCGCTTCTTC 0.602000 16 58 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70071199 70071199 + Missense_Mutation SNP T T G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:70071199T>G ENST00000370598.1 + 29 4855 c.4034T>G c.(4033-4035)gTa>gGa p.V1345G BAI3_ENST00000238918.8_Missense_Mutation_p.V551G|BAI3_ENST00000546190.1_Missense_Mutation_p.V309G NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1345 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) CACTACAAAGTAAACCCTGAA 0.408000 58 34 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151927113 151927113 + Splice_Site SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:151927113C>T ENST00000355193.2 - 18 3090 c.e18-1 KMT2C_ENST00000262189.6_Splice_Site lysine (K)-specific methyltransferase 2C p.?(2) CACACATATCCTGAAGTTAAG 0.353000 12 282 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157505553 157505553 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:157505553C>T ENST00000346085.5 + 13 3535 c.3534C>T c.(3532-3534)ctC>ctT p.L1178L ARID1B_ENST00000367148.1_Silent_p.L1218L|ARID1B_ENST00000350026.5_Silent_p.L1165L|ARID1B_ENST00000275248.4_Silent_p.L1160L NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1165 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) AGCCCAAGCTCCAGCCGCCAT 0.612000 16 39 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32090361 32090361 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:32090361C>T ENST00000438447.1 + 20 7195 c.6807C>T c.(6805-6807)ccC>ccT p.P2269P PDZD2_ENST00000282493.3_Silent_p.P2269P O15018 PDZD2_HUMAN PDZ domain containing 2 2269 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GTGGTCTTCCCAGCCTGGCTA 0.572000 81 138 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32090360 32090360 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:32090360C>T ENST00000438447.1 + 20 7194 c.6806C>T c.(6805-6807)cCc>cTc p.P2269L PDZD2_ENST00000282493.3_Missense_Mutation_p.P2269L O15018 PDZD2_HUMAN PDZ domain containing 2 2269 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GGTGGTCTTCCCAGCCTGGCT 0.572000 82 138 0 0 1 0 0 DPF2 5977 broad.mit.edu 37 11 65108530 65108530 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:65108530C>T ENST00000528416.1 + 3 420 c.287C>T c.(286-288)cCa>cTa p.P96L DPF2_ENST00000252268.4_Missense_Mutation_p.P96L|DPF2_ENST00000415073.2_Missense_Mutation_p.P96L|DPF2_ENST00000532264.1_3'UTR NM_006268.4 NP_006259.1 Q92785 REQU_HUMAN D4, zinc and double PHD fingers family 2 96 apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus nucleic acid binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1) 23 CTTTCCTTCCCATCTATTAAG 0.582000 10 31 0 0 1 0 0 WDR66 144406 broad.mit.edu 37 12 122399997 122399997 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:122399997G>A ENST00000288912.4 + 15 3275 c.2421G>A c.(2419-2421)agG>agA p.R807R WDR66_ENST00000397454.2_Silent_p.R807R|WDR66_ENST00000545752.1_3'UTR NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 807 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) CACTCACCAGGGAACTCTTCC 0.517000 21 87 0 0 1 0 0 SLC1A6 6511 broad.mit.edu 37 19 15073097 15073097 + Missense_Mutation SNP A A G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:15073097A>G ENST00000598504.1 - 8 2011 c.652T>C c.(652-654)Tct>Cct p.S218P SLC1A6_ENST00000600144.1_Missense_Mutation_p.S218P|SLC1A6_ENST00000544886.2_Missense_Mutation_p.S218P|SLC1A6_ENST00000430939.2_Missense_Mutation_p.S154P|SLC1A6_ENST00000221742.3_Missense_Mutation_p.S218P NM_001272087.1 NP_001259016.1 P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 218 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) CCCGGCTCAGACCCGTTCTCT 0.557000 26 114 0 0 1 0 0 POLA1 5422 broad.mit.edu 37 X 25014063 25014063 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:25014063C>T ENST00000379068.3 + 37 4446 c.4403C>T c.(4402-4404)tCc>tTc p.S1468F POLA1_ENST00000379059.3_Missense_Mutation_p.S1462F P09884 DPOLA_HUMAN polymerase (DNA directed), alpha 1, catalytic subunit 1462 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2) 11 Clofarabine(DB00631)|Fludarabine(DB01073) GCCGTGAAATCCTAAGGGAAT 0.498000 14 5 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7585319 7585319 + Silent SNP T T C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:7585319T>C ENST00000379802.3 + 24 8165 c.7824T>C c.(7822-7824)tcT>tcC p.S2608S DSP_ENST00000418664.2_Silent_p.S2009S NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2608 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GGAGCAGCTCTTTTTCAGACA 0.463000 93 50 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179582760 179582760 + Missense_Mutation SNP T T C rs72648984 TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:179582760T>C ENST00000589042.1 - 86 25197 c.24973A>G c.(24973-24975)Aaa>Gaa p.K8325E TTN_ENST00000342992.6_Missense_Mutation_p.K7081E|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K8008E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8008 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGATCCACTTTGTTGATTACT 0.403000 45 163 0 0 1 0 0 SV2C 22987 broad.mit.edu 37 5 75427918 75427918 + Missense_Mutation SNP G G A rs149119749 by1000genomes TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:75427918G>A ENST00000502798.2 + 2 785 c.343G>A c.(343-345)Gat>Aat p.D115N SV2C_ENST00000322285.7_Missense_Mutation_p.D115N NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 115 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity p.D115H(1) NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) GCCCAAGGGCGATGAGTACAA 0.537000 12 35 0 0 1 0 0 ATP13A1 57130 broad.mit.edu 37 19 19766002 19766002 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:19766002G>A ENST00000357324.6 - 12 1607 c.1581C>T c.(1579-1581)gtC>gtT p.V527V ATP13A1_ENST00000291503.5_Silent_p.V409V|ATP13A1_ENST00000496082.1_5'UTR NM_020410.2 NP_065143.2 Q9HD20 AT131_HUMAN ATPase type 13A1 527 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 AGCACACCTCGACCTTGCCAG 0.642000 15 55 0 0 1 0 0 HNRNPA2B1 3181 broad.mit.edu 37 7 26233279 26233279 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:26233279C>T ENST00000354667.4 - 9 961 c.793G>A c.(793-795)Gga>Aga p.G265R HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.G253R NM_031243.2 NP_112533.1 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 265 Gly-rich. RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 CCTCCTCTTCCTCCTCCATAA 0.443000 T ETV1 prostate 50 89 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47364118 47364118 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr18:47364118G>A ENST00000285039.7 - 37 5206 c.4907C>T c.(4906-4908)aCc>aTc p.T1636I SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Missense_Mutation_p.T206I|MYO5B_ENST00000324581.6_Missense_Mutation_p.T751I NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1636 Dilute. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CCGGTAGCCGGTGGGCTTCAC 0.483000 56 42 0 0 1 0 0 WNT9A 7483 broad.mit.edu 37 1 228109473 228109473 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:228109473G>A ENST00000272164.5 - 4 854 c.844C>T c.(844-846)Ccg>Tcg p.P282S WNT9A_ENST00000497852.1_Intron NM_003395.2 NP_003386.1 O14904 WNT9A_HUMAN wingless-type MMTV integration site family, member 9A 282 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Prostate(94;0.0405) CGGGGCAGCGGGTCGCTGCCA 0.711000 49 29 0 0 1 0 0 CHERP 10523 broad.mit.edu 37 19 16630476 16630476 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:16630476C>T ENST00000546361.2 - 16 2664 c.2513G>A c.(2512-2514)aGg>aAg p.R838K CHERP_ENST00000198939.6_Missense_Mutation_p.R849K|C19orf44_ENST00000221671.3_Intron|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'UTR NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 838 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 TTCTCCGAGCCTTGAGTCAGG 0.532000 39 155 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46851970 46851970 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:46851970C>T ENST00000283296.7 - 5 655 c.367G>A c.(367-369)Gag>Aag p.E123K GPR116_ENST00000362015.4_Missense_Mutation_p.E123K|GPR116_ENST00000265417.7_Missense_Mutation_p.E123K|GPR116_ENST00000456426.2_Missense_Mutation_p.E123K NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 123 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) TAACCTGTCTCGCAGGAGCAC 0.488000 18 56 0 0 1 0 0 SOWAHC 65124 broad.mit.edu 37 2 110372897 110372897 + Missense_Mutation SNP T T A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:110372897T>A ENST00000356454.3 + 1 987 c.831T>A c.(829-831)gaT>gaA p.D277E NM_023016.3 NP_075392.2 Q53LP3 ANR57_HUMAN sosondowah ankyrin repeat domain family member C 277 CTGCCTCCGATGGCAAGTGGG 0.687000 11 25 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47364117 47364117 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr18:47364117G>A ENST00000285039.7 - 37 5207 c.4908C>T c.(4906-4908)acC>acT p.T1636T SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Silent_p.T206T|MYO5B_ENST00000324581.6_Silent_p.T751T NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1636 Dilute. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TCCGGTAGCCGGTGGGCTTCA 0.488000 55 42 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25262510 25262510 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr13:25262510C>T ENST00000218548.6 + 4 615 c.282C>T c.(280-282)tcC>tcT p.S94S ATP12A_ENST00000381946.3_Silent_p.S94S NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 94 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GGCCCAACTCCCTCACCCCTC 0.577000 166 185 0 0 1 0 0 KIAA1524 57650 broad.mit.edu 37 3 108282084 108282084 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:108282084C>T ENST00000295746.8 - 13 1599 c.1523G>A c.(1522-1524)cGt>cAt p.R508H KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_Missense_Mutation_p.R349H NM_020890.2 NP_065941.2 Q8TCG1 CIP2A_HUMAN KIAA1524 508 cytoplasm|integral to membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 AGTAATCAAACGTGGGTCCTA 0.358000 86 156 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131466576 131466576 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:131466576C>T ENST00000261654.5 + 5 1017 c.458C>T c.(457-459)tCc>tTc p.S153F GPR133_ENST00000535015.1_Missense_Mutation_p.S185F NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 153 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CGGGACAATTCCATGACATGG 0.592000 15 73 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296282 39296282 + Missense_Mutation SNP G G T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:39296282G>T ENST00000345847.4 - 1 457 c.458C>A c.(457-459)tCt>tAt p.S153Y NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 149 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 ttcacagcaagaggggcggca 0.662000 7 72 0.248553 0.248553 1 1 0 MMP10 4319 broad.mit.edu 37 11 102650393 102650393 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:102650393G>A ENST00000279441.4 - 2 225 c.189C>T c.(187-189)atC>atT p.I63I NM_002425.2 NP_002416.1 P09238 MMP10_HUMAN matrix metallopeptidase 10 (stromelysin 2) 63 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6) 22 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) GCATTCCTTGGATTTTTTTAA 0.428000 10 18 0 0 1 0 0 ZC3H6 376940 broad.mit.edu 37 2 113088848 113088848 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:113088848C>T ENST00000409871.1 + 12 2754 c.2353C>T c.(2353-2355)Ccc>Tcc p.P785S ZC3H6_ENST00000343936.4_Missense_Mutation_p.P785S NM_198581.2 NP_940983.2 P61129 ZC3H6_HUMAN zinc finger CCCH-type containing 6 785 nucleic acid binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2) 35 TGCGTGGGATCCCAGGAAATT 0.473000 25 79 0 0 1 0 0 MIR194-2 406970 broad.mit.edu 37 11 64658877 64658877 + RNA SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:64658877C>T ENST00000384864.1 - 0 34 NR_029829.1 GTGGGCACTTCCACATGGAGT 0.647000 5 10 0 0 1 0 0 SLFN12 55106 broad.mit.edu 37 17 33738920 33738920 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:33738920G>A ENST00000394562.1 - 6 1697 c.1174C>T c.(1174-1176)Cca>Tca p.P392S SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000452764.3_Missense_Mutation_p.P392S|SLFN12_ENST00000304905.5_Missense_Mutation_p.P392S Q8IYM2 SLN12_HUMAN schlafen family member 12 392 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGGTTTTCTGGAGTATACGTT 0.358000 24 70 0 0 1 0 0 LILRB4 11006 broad.mit.edu 37 19 55175844 55175844 + Missense_Mutation SNP T T C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:55175844T>C ENST00000391736.1 + 6 878 c.563T>C c.(562-564)gTg>gCg p.V188A LILRB4_ENST00000430952.2_Missense_Mutation_p.V188A|LILRB4_ENST00000391733.3_Missense_Mutation_p.V188A|LILRB4_ENST00000391734.3_Missense_Mutation_p.V188A|LILRB4_ENST00000270452.2_Missense_Mutation_p.V188A NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 188 Ig-like C2-type 2. integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) GTGACCTCAGTGCACGGGGGG 0.602000 34 135 0 0 1 0 0 C12orf52 84934 broad.mit.edu 37 12 113629450 113629450 + Missense_Mutation SNP C C G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:113629450C>G ENST00000548278.1 + 4 1330 c.638C>G c.(637-639)cCa>cGa p.P213R C12orf52_ENST00000552495.1_Missense_Mutation_p.P237R|C12orf52_ENST00000549621.1_Missense_Mutation_p.P213R|RP11-545P7.4_ENST00000552525.1_RNA NM_032848.1 NP_116237.1 Q96K30 RITA_HUMAN chromosome 12 open reading frame 52 213 Interaction with tubulin. negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export centrosome|nucleus tubulin binding large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1) 5 ACTGGTCATCCAGCCACCAGT 0.607000 19 60 0 0 1 0 0 ANKRD42 338699 broad.mit.edu 37 11 82924107 82924107 + Missense_Mutation SNP T T A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:82924107T>A ENST00000526731.1 + 6 1095 c.673T>A c.(673-675)Ttc>Atc p.F225I ANKRD42_ENST00000393392.2_Intron|ANKRD42_ENST00000393389.3_3'UTR|ANKRD42_ENST00000260047.6_Intron|RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000531895.1_Intron|ANKRD42_ENST00000533342.1_Intron Q8N9B4 ANR42_HUMAN ankyrin repeat domain 42 0 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 TAAGAAGTTCTTCCGGCACCA 0.498000 28 43 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121000450 121000450 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:121000450C>T ENST00000392793.1 + 10 2742 c.2471C>T c.(2470-2472)aCt>aTt p.T824I TECTA_ENST00000264037.2_Missense_Mutation_p.T824I O75443 TECTA_HUMAN tectorin alpha 824 VWFD 2. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GGCGTGGTGACTGTCCAGTAC 0.488000 38 117 0 0 1 0 0 HAP1 9001 broad.mit.edu 37 17 39882119 39882119 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:39882119G>A ENST00000393939.2 - 9 1332 c.1323C>T c.(1321-1323)tcC>tcT p.S441S HAP1_ENST00000347901.4_Silent_p.S466S|HAP1_ENST00000341193.5_Silent_p.S449S|JUP_ENST00000540235.1_Intron|HAP1_ENST00000310778.5_Silent_p.S518S P54257 HAP1_HUMAN huntingtin-associated protein 1 466 Glu-rich.|HAP1 N-terminal. M -> T (may influence the age-at-onset of Huntington disease; decreases binding to mutated HTT; influences HTT degradation). brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) ACCTTAGGCTGGATGTGTCCC 0.557000 21 82 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70934991 70934991 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr16:70934991G>A ENST00000393567.2 - 53 9114 c.8964C>T c.(8962-8964)acC>acT p.T2988T NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2988 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CAGGGGGGATGGTCCCCTGCA 0.562000 29 190 0 0 1 0 0 TMEM173 340061 broad.mit.edu 37 5 138860786 138860786 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:138860786G>A ENST00000330794.4 - 4 702 c.369C>T c.(367-369)ctC>ctT p.L123L TMEM173_ENST00000511850.1_5'UTR NM_198282.2 NP_938023.1 Q86WV6 TM173_HUMAN transmembrane protein 173 123 activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane protein homodimerization activity|protein kinase binding|transcription factor binding endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AGAGGCCCAGGAGGGCAAGCA 0.627000 26 70 0 0 1 0 0 HABP2 3026 broad.mit.edu 37 10 115335708 115335708 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr10:115335708G>A ENST00000537906.1 + 5 404 c.242G>A c.(241-243)gGa>gAa p.G81E HABP2_ENST00000351270.3_Silent_p.G92G|HABP2_ENST00000542051.1_Silent_p.G66G|HABP2_ENST00000541666.1_Silent_p.G92G Q14520 HABP2_HUMAN hyaluronan binding protein 2 0 EGF-like 1. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) TCGTCCATGGGAGCACCTTCA 0.527000 52 128 0 0 1 0 0 ZBTB39 9880 broad.mit.edu 37 12 57398251 57398251 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:57398251C>T ENST00000300101.2 - 2 536 c.451G>A c.(451-453)Gaa>Aaa p.E151K NM_014830.2 NP_055645.1 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1) 16 TGGGCAGGTTCTGCCGAAGGA 0.562000 28 132 0 0 1 0 0 ADAM15 8751 broad.mit.edu 37 1 155026807 155026807 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:155026807C>T ENST00000356955.2 + 6 538 c.437C>T c.(436-438)aCc>aTc p.T146I ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000355956.2_Missense_Mutation_p.T146I|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000449910.2_Missense_Mutation_p.T146I|ADAM15_ENST00000360674.4_Missense_Mutation_p.T146I|ADAM15_ENST00000531455.1_Missense_Mutation_p.T156I|ADAM15_ENST00000359280.4_Missense_Mutation_p.T146I|ADAM15_ENST00000447332.3_Missense_Mutation_p.T130I|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000368412.3_Missense_Mutation_p.T146I|ADAM15_ENST00000271836.6_Missense_Mutation_p.T146I NM_207197.2 NP_997080.1 Q13444 ADA15_HUMAN ADAM metallopeptidase domain 15 146 angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) GTGGTCCTGACCCCAGAGAGA 0.522000 23 127 0 0 1 0 0 PTGER3 5733 broad.mit.edu 37 1 71318539 71318539 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:71318539C>T ENST00000370932.2 - 3 1311 c.1081G>A c.(1081-1083)Gaa>Aaa p.E361K PTGER3_ENST00000460330.1_Missense_Mutation_p.E370K|PTGER3_ENST00000351052.5_3'UTR|PTGER3_ENST00000370931.3_3'UTR NM_198717.1 NP_942010.1 P43115 PE2R3_HUMAN prostaglandin E receptor 3 (subtype EP3) 361 cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 Bimatoprost(DB00905) CCCCAAAATTCCTCCTGGAAA 0.323000 42 146 0 0 1 0 0 GJA1 2697 broad.mit.edu 37 6 121769004 121769004 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:121769004C>T ENST00000282561.3 + 2 1168 c.1011C>T c.(1009-1011)ttC>ttT p.F337F NM_000165.3 NP_000156.1 P17302 CXA1_HUMAN gap junction protein, alpha 1, 43kDa 337 cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2) 33 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) CTTTTGATTTCCCCGATGATA 0.483000 28 90 0 0 1 0 0 OR13C8 138802 broad.mit.edu 37 9 107331787 107331787 + Missense_Mutation SNP G G T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr9:107331787G>T ENST00000335040.1 + 1 339 c.339G>T c.(337-339)atG>atT p.M113I NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 CGGAGTGCATGATCTTAGGCA 0.502000 23 92 1.96895e-08 2.00789e-08 1 1 0 CDH16 1014 broad.mit.edu 37 16 66951562 66951562 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr16:66951562G>A ENST00000299752.4 - 3 305 c.112C>T c.(112-114)Cct>Tct p.P38S CDH16_ENST00000570262.1_Intron|CDH16_ENST00000394055.3_Missense_Mutation_p.P38S|CDH16_ENST00000565796.1_Missense_Mutation_p.P38S|CDH16_ENST00000568632.1_Missense_Mutation_p.P38S NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 38 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) AGGTATAAAGGGAAATTTCCA 0.582000 8 11 0 0 1 0 0 C19orf57 79173 broad.mit.edu 37 19 14001068 14001068 + Silent SNP A A G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:14001068A>G ENST00000454313.1 - 6 659 c.601T>C c.(601-603)Ttg>Ctg p.L201L C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000586783.1_Silent_p.L201L|C19orf57_ENST00000346736.2_Silent_p.L201L Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 201 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) GAGGCGGACAACCCCGTCCCC 0.642000 43 117 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92088198 92088198 + Missense_Mutation SNP A A T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:92088198A>T ENST00000256343.3 - 19 2170 c.2014T>A c.(2014-2016)Tta>Ata p.L672I NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 672 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) TTATTATCTAAAATGCTTGTG 0.408000 24 30 0 0 1 0 0 ZNF800 168850 broad.mit.edu 37 7 127014801 127014801 + Missense_Mutation SNP C C G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:127014801C>G ENST00000393313.1 - 5 1180 c.589G>C c.(589-591)Gag>Cag p.E197Q ZNF800_ENST00000393312.1_Missense_Mutation_p.E197Q|ZNF800_ENST00000265827.3_Missense_Mutation_p.E197Q Q2TB10 ZN800_HUMAN zinc finger protein 800 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 GTAACAATCTCAACAGGAGGG 0.443000 18 155 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 125900207 125900207 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:125900207C>T ENST00000299308.3 + 3 1083 c.1075C>T c.(1075-1077)Ccg>Tcg p.P359S NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 359 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GGGCCATCGCCCGGACACGCA 0.592000 6 71 0 0 1 0 0 LRRC30 339291 broad.mit.edu 37 18 7231671 7231671 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr18:7231671C>T ENST00000383467.2 + 1 549 c.535C>T c.(535-537)Ccc>Tcc p.P179S NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 179 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 CGCGCACATCCCCATGTGTGT 0.557000 77 46 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118375064 118375064 + Silent SNP C C T rs142499035 byFrequency TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:118375064C>T ENST00000534358.1 + 27 8480 c.8457C>T c.(8455-8457)tcC>tcT p.S2819S KMT2A_ENST00000389506.5_Silent_p.S2816S|KMT2A_ENST00000354520.4_Silent_p.S2778S NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A GTACCCCCTCCGACAAAAATT 0.448000 33 90 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166896038 166896038 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:166896038G>A ENST00000423058.2 - 14 2501 c.2484C>T c.(2482-2484)ttC>ttT p.F828F AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.F817F|SCN1A_ENST00000409050.1_Silent_p.F800F|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Silent_p.F828F NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 828 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AGCCTTCTTGGAAATAATAGT 0.373000 18 24 0 0 1 0 0 PTPN4 5775 broad.mit.edu 37 2 120718393 120718393 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:120718393C>T ENST00000263708.2 + 23 2915 c.2144C>T c.(2143-2145)cCt>cTt p.P715L PTPN4_ENST00000544261.1_Missense_Mutation_p.P348L NM_002830.3 NP_002821.1 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) 715 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) ATGGAAATTCCTTCTTCCAGC 0.358000 30 41 0 0 1 0 0 TNK2 10188 broad.mit.edu 37 3 195595288 195595288 + Silent SNP C C A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:195595288C>A ENST00000333602.6 - 12 2453 c.1836G>T c.(1834-1836)ctG>ctT p.L612L TNK2_ENST00000392400.1_Silent_p.L612L|TNK2_ENST00000381916.2_Silent_p.L690L|TNK2_ENST00000428187.1_Silent_p.L644L NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 612 Pro-rich. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) GGGGCCGGGGCAGTGCCCGCG 0.746000 15 49 4.7546e-09 4.87006e-09 1 1 0 MEFV 4210 broad.mit.edu 37 16 3306552 3306552 + Silent SNP G G T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr16:3306552G>T ENST00000219596.1 - 1 75 c.36C>A c.(34-36)acC>acA p.T12T MEFV_ENST00000536379.1_Silent_p.T12T|MEFV_ENST00000339854.4_Silent_p.T12T|MEFV_ENST00000541159.1_Silent_p.T12T NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 12 DAPIN. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) GCTCCTCCAGGGTGGACAGCA 0.572000 65 44 3.28615e-30 3.51331e-30 1 1 0 C9orf43 257169 broad.mit.edu 37 9 116187664 116187664 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr9:116187664G>A ENST00000288462.4 + 10 1352 c.906G>A c.(904-906)caG>caA p.Q302Q C9orf43_ENST00000374165.1_Silent_p.Q302Q NM_152786.1 NP_689999.1 Q8TAL5 CI043_HUMAN chromosome 9 open reading frame 43 302 Gln-rich. breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3) 15 agcagcagcagcaacagAAGA 0.547000 4 90 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 198950624 198950624 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:198950624C>T ENST00000428675.1 + 2 2781 c.2383C>T c.(2383-2385)Cgt>Tgt p.R795C PLCL1_ENST00000437704.2_Missense_Mutation_p.R697C NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 795 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) GGCCATGATCCGTTTTGTTGT 0.398000 69 89 0 0 1 0 0 PCDHGB7 56099 broad.mit.edu 37 5 140798510 140798510 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:140798510C>T ENST00000398594.2 + 1 1084 c.1084C>T c.(1084-1086)Cca>Tca p.P362S PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron NM_018927.3 NP_061750.1 central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGATTCCCCTCCAGGAGTGGT 0.443000 28 23 0 0 1 0 0 WNK3 65267 broad.mit.edu 37 X 54224806 54224806 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:54224806G>A ENST00000354646.2 - 24 5792 c.5354C>T c.(5353-5355)cCa>cTa p.P1785L WNK3_ENST00000375169.3_Missense_Mutation_p.P1728L|WNK3_ENST00000375159.2_Missense_Mutation_p.P1785L NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 1728 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 TGATGAAGTTGGAAATGCCTG 0.443000 13 17 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56026099 56026099 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:56026099G>A ENST00000288221.6 - 11 2496 c.2241C>T c.(2239-2241)atC>atT p.I747I NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 747 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CCAGTTCTGCGATCTTCTTGT 0.498000 31 123 0 0 1 0 0 CXorf57 55086 broad.mit.edu 37 X 105855852 105855852 + Nonsense_Mutation SNP T T A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:105855852T>A ENST00000372548.4 + 1 651 c.542T>A c.(541-543)tTa>tAa p.L181* CXorf57_ENST00000372544.2_Nonsense_Mutation_p.L181* NM_018015.5 NP_060485.4 Q6NSI4 CX057_HUMAN chromosome X open reading frame 57 181 NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 31 GAGAGGCCTTTAAGAGGCGGG 0.468000 35 84 0 0 1 0 0 ATF7IP2 80063 broad.mit.edu 37 16 10567375 10567375 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr16:10567375C>T ENST00000396560.2 + 9 1693 c.1466C>T c.(1465-1467)cCc>cTc p.P489L ATF7IP2_ENST00000324570.5_Missense_Mutation_p.P489L|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.P489L|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.P489L|ATF7IP2_ENST00000543967.1_Missense_Mutation_p.P33L NM_024997.3 NP_079273.2 Q5U623 MCAF2_HUMAN activating transcription factor 7 interacting protein 2 489 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus large_intestine(3) 3 AGCAATTCTCCCAATGCTGAA 0.284000 17 67 0 0 1 0 0 RPP25 54913 broad.mit.edu 37 15 75248413 75248413 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr15:75248413C>T ENST00000322177.5 - 1 1392 c.512G>A c.(511-513)aGg>aAg p.R171K RPP25_ENST00000499788.2_Missense_Mutation_p.R171K NM_017793.2 NP_060263.2 Q9BUL9 RPP25_HUMAN ribonuclease P/MRP 25kDa subunit 171 tRNA processing nucleus protein binding|ribonuclease P activity|RNA binding breast(1)|lung(1) 2 CCCTAGGCTCCTCTTGGACGC 0.677000 4 14 0 0 1 0 0 CCKBR 887 broad.mit.edu 37 11 6292675 6292675 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:6292675C>T ENST00000525462.1 + 4 1456 c.1453C>T c.(1453-1455)Cgc>Tgc p.R485C CCKBR_ENST00000334619.2_Missense_Mutation_p.R416C|CCKBR_ENST00000532715.1_Missense_Mutation_p.R332C P32239 GASR_HUMAN cholecystokinin B receptor 416 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) TCCACGAGCTCGCCCCAGGGC 0.652000 25 54 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132490671 132490671 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:132490671C>T ENST00000333577.4 + 15 3167 c.3058C>T c.(3058-3060)Cca>Tca p.P1020S EP400_ENST00000332482.4_Missense_Mutation_p.P947S|EP400_ENST00000330386.6_Missense_Mutation_p.P984S|EP400_ENST00000389561.2_Missense_Mutation_p.P984S|EP400_ENST00000389562.2_Missense_Mutation_p.P983S Q96L91 EP400_HUMAN E1A binding protein p400 1020 Interactions with RUVBL1 and RUVBL2. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) AGATGACTGTCCAGGCGACAG 0.428000 6 53 0 0 1 0 0 ACVRL1 94 broad.mit.edu 37 12 52307352 52307352 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:52307352C>T ENST00000550683.1 + 3 466 c.365C>T c.(364-366)cCt>cTt p.P122L ACVRL1_ENST00000419526.2_Intron|ACVRL1_ENST00000388922.4_Missense_Mutation_p.P108L NM_001077401.1 NP_001070869.1 P37023 ACVL1_HUMAN activin A receptor type II-like 1 108 blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) GCCACCCAACCTCCTTCGGAG 0.677000 17 14 0 0 1 0 0 FAM129A 116496 broad.mit.edu 37 1 184767251 184767251 + Missense_Mutation SNP T T G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:184767251T>G ENST00000367511.3 - 13 1821 c.1628A>C c.(1627-1629)gAg>gCg p.E543A FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 543 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 ATGTAAAATCTCCTCATAGAC 0.418000 19 22 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115769369 115769369 + Splice_Site SNP A A C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr4:115769369A>C ENST00000264363.2 - 9 2619 c.e9+1 NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TATTTTTCTTACCAGTCTATT 0.343000 9 51 0 0 1 0 0 NDOR1 27158 broad.mit.edu 37 9 140110573 140110573 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr9:140110573C>T ENST00000371521.4 + 13 1692 c.1609C>T c.(1609-1611)Ctc>Ttc p.L537F NDOR1_ENST00000344894.5_Missense_Mutation_p.L528F|NDOR1_ENST00000427047.2_Missense_Mutation_p.L494F|NDOR1_ENST00000458322.2_Missense_Mutation_p.L521F NM_001144026.1 NP_001137498.1 Q9UHB4 NDOR1_HUMAN NADPH dependent diflavin oxidoreductase 1 528 cell death cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) GCAGCACCGGCTCCGGGAGCT 0.647000 23 66 0 0 1 0 0 RICTOR 253260 broad.mit.edu 37 5 38953653 38953653 + Silent SNP A A G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:38953653A>G ENST00000357387.3 - 28 2730 c.2700T>C c.(2698-2700)aaT>aaC p.N900N RICTOR_ENST00000296782.5_Silent_p.N900N NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 900 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) CTGTAATAATATTCTGGAGAA 0.279000 35 125 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038834 75038834 + Missense_Mutation SNP C C A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:75038834C>A ENST00000326665.5 - 14 2778 c.2560G>T c.(2560-2562)Ggg>Tgg p.G854W C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 854 Glu-rich. p.G854W(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCTGACCCCCCTTCACCCAGC 0.527000 40 116 2.87052e-16 3.02023e-16 1 1 0 CAMKMT 79823 broad.mit.edu 37 2 44999183 44999183 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:44999183G>A ENST00000378494.3 + 11 947 c.903G>A c.(901-903)aaG>aaA p.K301K NM_024766.3 NP_079042.1 Q7Z624 CMKMT_HUMAN calmodulin-lysine N-methyltransferase 301 cytoplasm calmodulin-lysine N-methyltransferase activity breast(2)|large_intestine(3)|lung(5) 10 AGTTGAAAAAGGAAAACCCGG 0.343000 10 58 0 0 1 0 0 VWA8 23078 broad.mit.edu 37 13 42189112 42189112 + Splice_Site SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr13:42189112C>T ENST00000379310.3 - 38 4788 c.4720_splice c.e38+1 p.G1574_splice NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 TGCTACCAACCTGTTCCGCCA 0.582000 24 17 0 0 1 0 0 CHST7 56548 broad.mit.edu 37 X 46434386 46434386 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:46434386C>T ENST00000276055.3 + 1 1168 c.1020C>T c.(1018-1020)ttC>ttT p.F340F NM_019886.2 NP_063939.2 Q9NS84 CHST7_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7 340 chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity breast(3)|endometrium(2)|kidney(1)|lung(2) 8 ccgATTTCTTCCTGACCGGTG 0.756000 6 5 0 0 1 0 0 PGLYRP3 114771 broad.mit.edu 37 1 153276334 153276334 + Splice_Site SNP C C A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:153276334C>A ENST00000290722.1 - 4 580 c.529_splice c.e4+1 p.K176_splice NM_052891.1 NP_443123.1 Q96LB9 PGRP3_HUMAN peptidoglycan recognition protein 3 176 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 28 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GGGTCTTACCCTTCCTGGGCA 0.532000 111 49 1.81142e-54 1.94111e-54 1 1 0 FSIP2 401024 broad.mit.edu 37 2 186672566 186672566 + Missense_Mutation SNP T T A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:186672566T>A ENST00000343098.5 + 17 18800 c.18800T>A c.(18799-18801)aTa>aAa p.I6267K FSIP2_ENST00000424728.1_Missense_Mutation_p.I6178K NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 TCTTATAACATAATAGAAGAA 0.308000 13 40 0 0 1 0 0 TLE3 7090 broad.mit.edu 37 15 70358493 70358493 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr15:70358493G>A ENST00000558939.1 - 7 1814 c.437C>T c.(436-438)cCc>cTc p.P146L TLE3_ENST00000559048.1_Missense_Mutation_p.P151L|TLE3_ENST00000558379.1_Missense_Mutation_p.P146L|TLE3_ENST00000539550.1_Missense_Mutation_p.P90L|TLE3_ENST00000317509.8_Missense_Mutation_p.P146L|TLE3_ENST00000560939.1_Missense_Mutation_p.P151L|TLE3_ENST00000451782.2_Missense_Mutation_p.P146L|TLE3_ENST00000440567.3_Missense_Mutation_p.P139L|TLE3_ENST00000557997.1_Missense_Mutation_p.P146L|TLE3_ENST00000560589.1_Missense_Mutation_p.P90L|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000559929.1_Missense_Mutation_p.P156L|TLE3_ENST00000557907.1_Missense_Mutation_p.P146L|TLE3_ENST00000442299.2_Missense_Mutation_p.P146L|TLE3_ENST00000558201.1_Missense_Mutation_p.P152L Q04726 TLE3_HUMAN transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) 146 Gly/Pro-rich. organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TGACGGGTGGGGTGGCAACTG 0.677000 8 25 0 0 1 0 0 CNTN3 5067 broad.mit.edu 37 3 74350637 74350637 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:74350637C>T ENST00000263665.6 - 15 2034 c.2007G>A c.(2005-2007)gtG>gtA p.V669V NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 669 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) ATTCATATTCCACCCATGGGT 0.438000 35 87 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23897092 23897092 + Silent SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:23897092G>A ENST00000355349.3 - 16 1752 c.1590C>T c.(1588-1590)atC>atT p.I530I NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 530 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GGATGGACATGATGCCCATGG 0.537000 16 55 0 0 1 0 0 RANGRF 29098 broad.mit.edu 37 17 8192610 8192610 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:8192610G>A ENST00000439238.3 + 3 340 c.229G>A c.(229-231)Gct>Act p.A77T SLC25A35_ENST00000580340.1_3'UTR|SLC25A35_ENST00000396278.1_Intron|RANGRF_ENST00000580434.1_Missense_Mutation_p.A77T|RANGRF_ENST00000226105.6_Missense_Mutation_p.A77T|SLC25A35_ENST00000380067.2_3'UTR|SLC25A35_ENST00000579192.1_Intron|RANGRF_ENST00000407006.4_Missense_Mutation_p.A77T Q9HD47 MOG1_HUMAN RAN guanine nucleotide release factor 77 protein transport cytoplasm|nucleus guanyl-nucleotide exchange factor activity endometrium(1) 1 CGTGCAGGGGGCTAGGGCTGT 0.597000 54 44 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9071105 9071105 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:9071105C>T ENST00000397910.4 - 3 16544 c.16341G>A c.(16339-16341)tcG>tcA p.S5447S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5449 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGTGGCTTTCGATGTCTCTG 0.493000 49 225 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99723868 99723868 + Missense_Mutation SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:99723868C>T ENST00000345514.2 - 2 633 c.367G>A c.(367-369)Gaa>Aaa p.E123K BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000357195.3_Missense_Mutation_p.E123K NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 517 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) TGGTCATCTTCGTCGGGGGTG 0.607000 T TLX3 T-ALL 33 176 0 0 1 0 0 AIF1 199 broad.mit.edu 37 6 31583327 31583327 + Missense_Mutation SNP C C A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:31583327C>A ENST00000376059.3 + 2 201 c.55C>A c.(55-57)Cag>Aag p.Q19K NM_001623.3 NP_001614.3 P55008 AIF1_HUMAN allograft inflammatory factor 1 19 actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation nucleus|ruffle membrane actin filament binding|calcium ion binding lung(2)|ovary(1) 3 GCTGAAGGCCCAGCAGGAAGA 0.577000 17 40 3.52763e-06 3.57385e-06 1 1 0 MFSD2A 84879 broad.mit.edu 37 1 40434031 40434031 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:40434031G>A ENST00000372809.5 + 12 1416 c.1273G>A c.(1273-1275)Gac>Aac p.D425N MFSD2A_ENST00000372811.5_Missense_Mutation_p.D412N|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000420632.2_Missense_Mutation_p.D256N NM_001136493.1 NP_001129965.1 Q8NA29 MFS2A_HUMAN major facilitator superfamily domain containing 2A 425 transmembrane transport endoplasmic reticulum membrane|integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 TGTCATTGACGACTTCCATCT 0.537000 24 48 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14862499 14862499 + Missense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:14862499G>A ENST00000285046.5 + 1 2031 c.1921G>A c.(1921-1923)Gac>Aac p.D641N FGD5_ENST00000543601.1_Missense_Mutation_p.D400N NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 641 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 GATCGAGAGCGACTCCCCGGA 0.512000 16 55 0 0 1 0 0 ZNF354A 6940 broad.mit.edu 37 5 178139609 178139609 + Nonsense_Mutation SNP G G A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:178139609G>A ENST00000335815.2 - 5 1467 c.1270C>T c.(1270-1272)Cga>Tga p.R424* NM_005649.2 NP_005640.2 O60765 Z354A_HUMAN zinc finger protein 354A 424 regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2) 19 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|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) all cancers(165;0.185) CTATTAAGTCGTGAAATAGAA 0.383000 15 59 0 0 1 0 0 ZNF607 84775 broad.mit.edu 37 19 38189673 38189673 + Missense_Mutation SNP T T A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:38189673T>A ENST00000355202.4 - 5 1954 c.1359A>T c.(1357-1359)gaA>gaT p.E453D ZNF607_ENST00000395835.3_Missense_Mutation_p.E452D|CTD-2528L19.4_ENST00000586606.2_Intron NM_032689.4 NP_116078.4 Q96SK3 ZN607_HUMAN zinc finger protein 607 453 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) ACTTCCCACATTCTTTACATT 0.418000 66 57 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40901313 40901313 + Silent SNP C C T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:40901313C>T ENST00000324001.7 - 7 3216 c.2946G>A c.(2944-2946)gaG>gaA p.E982E PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 982 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) GCAGGCCTGCCTCCCCAGCCC 0.647000 38 103 0 0 1 0 0 ALG1L2 644974 broad.mit.edu 37 3 129814807 129814807 + RNA DEL G G - rs71158106 TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:129814807delG ENST00000507643.1 + 0 456 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups CACTCCCCTCGGGGGGTGTTG 0.607 3 5 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 7 197 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61846476 61846484 + In_Frame_Del DEL CCTTTGTAT CCTTTGTAT - TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr10:61846476_61846484delCCTTTGTAT ENST00000280772.1 - 30 3890_3898 c.3699_3707delATACAAAGG c.(3697-3708)ggg>gg p.GYKG1233del ANK3_ENST00000503366.1_In_Frame_Del_p.GYKG1234del|ANK3_ENST00000355288.2_In_Frame_Del_p.GYKG367del|ANK3_ENST00000373827.2_In_Frame_Del_p.GYKG1227del NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1233 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TGTAGTGTCCCCTTTGTATCCATTGGATA 0.450 22 52 --- --- --- --- RB1 5925 broad.mit.edu 37 13 48919262 48919262 + Frame_Shift_Del DEL A A - TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr13:48919262delA ENST00000267163.4 + 4 565 c.427delA c.(427-429)aafs p.K143fs NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 143 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(6) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TACCAGTACCAAAGTTGATAA 0.284 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 19 28 --- --- --- --- BCAS1 8537 broad.mit.edu 37 20 52557949 52557950 + RNA INS - - TT rs72548465 by1000genomes TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr20:52557949_52557950insTT ENST00000450473.1 + 0 550 gtgtgtgtgtgtgtgtgtgcgc 0.500 3 4 --- --- --- ---