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 ELP2 55250 broad.mit.edu 37 18 33747151 33747151 + Missense_Mutation SNP G G A rs150412497 by1000genomes TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr18:33747151G>A ENST00000358232.6 + 19 2105 c.2042G>A c.(2041-2043)aGc>aAc p.S681N ELP2_ENST00000351393.6_Missense_Mutation_p.S655N|ELP2_ENST00000542824.1_Missense_Mutation_p.S611N|ELP2_ENST00000423854.2_Missense_Mutation_p.S611N|ELP2_ENST00000442325.2_Missense_Mutation_p.S746N|ELP2_ENST00000350494.6_Missense_Mutation_p.S676N NM_018255.2 NP_060725.1 Q6IA86 ELP2_HUMAN elongator acetyltransferase complex subunit 2 681 regulation of transcription from RNA polymerase II promoter Golgi apparatus|transcription elongation factor complex NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2) 30 AGTCCTGACAGCAAGTATTTC 0.289000 4 75 0 0 1 0 0 GCKR 2646 broad.mit.edu 37 2 27746165 27746165 + Silent SNP A A T TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr2:27746165A>T ENST00000264717.2 + 19 1800 c.1737A>T c.(1735-1737)ctA>ctT p.L579L GCKR_ENST00000424318.2_Silent_p.L389L NM_001486.3 NP_001477.2 Q14397 GCKR_HUMAN glucokinase (hexokinase 4) regulator 579 carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) TGAGCCTCCTATTCCGGTGCT 0.592000 8 19 0 0 1 0 0 GAGE2A 729447 broad.mit.edu 37 X 49355893 49355893 + Missense_Mutation SNP C C G rs147803166 by1000genomes TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chrX:49355893C>G ENST00000362097.1 + 3 258 c.175C>G c.(175-177)Cag>Gag p.Q59E NM_001127212.1 NP_001120684.1 G antigen 2A p.Q59E(8) endometrium(4) 4 Ovarian(276;0.236) TCAGGAGGGACAGGATGAGGG 0.562000 5 668 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43596429 43596429 + RNA SNP C C T TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr17:43596429C>T ENST00000253803.2 + 0 267 TCACTTTTTGCCGGTTTTGGC 0.488000 4 171 0 0 1 0 0 SYNCRIP 10492 broad.mit.edu 37 6 86324853 86324853 + Missense_Mutation SNP C C A TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr6:86324853C>A ENST00000355238.6 - 11 1699 c.1493G>T c.(1492-1494)aGg>aTg p.R498M RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.G34W|SYNCRIP_ENST00000369622.3_Missense_Mutation_p.R498M NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1 NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA interacting protein 498 8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) TCTACCACCCCTTCCTCTAGC 0.478000 4 40 1 1 1 1 0 ANKRD27 84079 broad.mit.edu 37 19 33140667 33140667 + Missense_Mutation SNP C C G TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr19:33140667C>G ENST00000306065.4 - 3 292 c.134G>C c.(133-135)aGc>aCc p.S45T ANKRD27_ENST00000587352.1_Missense_Mutation_p.S45T|ANKRD27_ENST00000586693.2_5'UTR NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 45 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) CTGGATGCTGCTCGACAGGCT 0.448000 14 135 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159653589 159653589 + Missense_Mutation SNP G G A TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr6:159653589G>A ENST00000297267.9 + 11 2245 c.2045G>A c.(2044-2046)cGc>cAc p.R682H FNDC1_ENST00000340366.6_Missense_Mutation_p.R619H NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 682 Ser-rich. extracellular region p.R682H(1) 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) AGCGTTCTCCGCGACAGAAGC 0.716000 3 34 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 4 9 0 0 1 0 0 AGXT2 64902 broad.mit.edu 37 5 35014092 35014092 + Splice_Site SNP C C G TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr5:35014092C>G ENST00000231420.6 - 10 1296 c.1096_splice c.e10+1 p.E366_splice NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 366 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) TGGGTCCTACCTGGAGTGGTT 0.507000 33 45 0 0 1 0 0 FIGN 55137 broad.mit.edu 37 2 164467412 164467412 + Missense_Mutation SNP G G C TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr2:164467412G>C ENST00000333129.3 - 3 1244 c.930C>G c.(928-930)aaC>aaG p.N310K FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 310 nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 TTGCTGAACTGTTTGTCAGAG 0.512000 5 47 0 0 1 0 0 HS3ST6 64711 broad.mit.edu 37 16 1962141 1962141 + Missense_Mutation SNP G G A TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr16:1962141G>A ENST00000454677.2 - 2 595 c.530C>T c.(529-531)aCg>aTg p.T177M HS3ST6_ENST00000443547.1_Missense_Mutation_p.T129M|HS3ST6_ENST00000293937.3_Missense_Mutation_p.T160M C9JH64 C9JH64_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 6 129 endometrium(2)|lung(2) 4 GGCCTCTCGCGTCACGAAGTA 0.677000 7 17 0 0 1 0 0 SEMA4G 57715 broad.mit.edu 37 10 102732921 102732921 + Missense_Mutation SNP C C G TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr10:102732921C>G ENST00000210633.3 + 2 238 c.160C>G c.(160-162)Cag>Gag p.Q54E SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.Q54E|SEMA4G_ENST00000370250.4_Missense_Mutation_p.Q54E Q9NTN9 SEM4G_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G 54 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) GGGCCAAGCCCAGAACTACTC 0.627000 9 10 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155237056 155237056 + Missense_Mutation SNP G G T TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr4:155237056G>T ENST00000357232.3 - 15 3738 c.3739C>A c.(3739-3741)Cca>Aca p.P1247T NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1247 Cadherin 10. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GAAAGTGCTGGTGTGCCATCA 0.408000 17 23 2.48551e-13 2.74263e-13 1 1 0 FSCB 84075 broad.mit.edu 37 14 44975667 44975667 + Missense_Mutation SNP G G T TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr14:44975667G>T ENST00000340446.4 - 1 815 c.524C>A c.(523-525)aCa>aAa p.T175K NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 175 cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) CTTTGACTTTGTAGAAGAACT 0.388000 29 136 1.16021e-09 1.25853e-09 1 1 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 3 45 0.014758 0.0154838 1 1 0 ZFP37 7539 broad.mit.edu 37 9 115805369 115805369 + Missense_Mutation SNP G G C TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr9:115805369G>C ENST00000374227.3 - 4 1556 c.1529C>G c.(1528-1530)aCt>aGt p.T510S ZFP37_ENST00000555206.1_Missense_Mutation_p.T511S|ZFP37_ENST00000553380.1_Missense_Mutation_p.T525S Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 510 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 ACCTGTATGAGTTCTCATATG 0.358000 40 50 0 0 1 0 0 KCNQ2 3785 broad.mit.edu 37 20 62070978 62070978 + Silent SNP G G A TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr20:62070978G>A ENST00000354587.3 - 6 1076 c.900C>T c.(898-900)atC>atT p.I300I KCNQ2_ENST00000344462.3_Silent_p.I300I|KCNQ2_ENST00000344425.5_Silent_p.I300I|KCNQ2_ENST00000357249.2_Silent_p.I300I|KCNQ2_ENST00000370222.3_Silent_p.I300I|KCNQ2_ENST00000359125.2_Silent_p.I300I|KCNQ2_ENST00000359689.1_Silent_p.I300I|KCNQ2_ENST00000370226.1_Silent_p.I300I|KCNQ2_ENST00000360480.3_Silent_p.I300I|KCNQ2_ENST00000370221.1_Silent_p.I300I|KCNQ2_ENST00000430658.1_Silent_p.I300I|KCNQ2_ENST00000370224.1_Silent_p.I300I O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 300 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) AGGAGACACCGATGAGGGTGA 0.642000 15 16 0 0 1 0 0 ZCCHC12 170261 broad.mit.edu 37 X 117959898 117959898 + Missense_Mutation SNP C C T TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chrX:117959898C>T ENST00000310164.2 + 4 1198 c.691C>T c.(691-693)Cgt>Tgt p.R231C NM_173798.2 NP_776159.1 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 231 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 22 TAAACGGAAGCGTCCAAAAAG 0.498000 4 15 0 0 1 0 0 WDR3 10885 broad.mit.edu 37 1 118476063 118476063 + Missense_Mutation SNP G G A TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr1:118476063G>A ENST00000349139.4 + 2 168 c.121G>A c.(121-123)Gta>Ata p.V41I WDR3_ENST00000369441.3_Intron|WDR3_ENST00000471680.1_3'UTR NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 41 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) TTATGTGGCAGTACCAGCTTG 0.438000 4 96 0 0 1 0 0 NBPF20 100288142 broad.mit.edu 37 1 148344742 148344742 + Splice_Site SNP T T G TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr1:148344742T>G ENST00000369202.1 - 3 373 c.175_splice c.e3-1 p.N59_splice NBPF20_ENST00000414710.2_Splice_Site_p.N59_splice neuroblastoma breakpoint family, member 20 breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 27 CTCTTCATAGTCTGAGAAAAG 0.512000 6 240 0 0 1 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73316401 73316401 + Silent SNP T T C TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr2:73316401T>C ENST00000258098.6 - 2 714 c.474A>G c.(472-474)gaA>gaG p.E158E RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 158 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 TCTCGCCGCGTTCCTTCTCCT 0.582000 36 229 0 0 1 0 0 THBS3 7059 broad.mit.edu 37 1 155173028 155173028 + Missense_Mutation SNP C C T TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr1:155173028C>T ENST00000368378.3 - 6 762 c.742G>A c.(742-744)Gat>Aat p.D248N THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000428962.2_Intron|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000457183.2_Missense_Mutation_p.D128N|RP11-263K19.4_ENST00000453136.1_RNA NM_001252607.1|NM_007112.4 NP_001239536.1|NP_009043.1 P49746 TSP3_HUMAN thrombospondin 3 248 cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TCTCGTATATCATCCCGCAGC 0.602000 21 21 0 0 1 0 0 FSTL4 23105 broad.mit.edu 37 5 132537700 132537700 + Missense_Mutation SNP T T C TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr5:132537700T>C ENST00000265342.7 - 15 2000 c.1751A>G c.(1750-1752)cAc>cGc p.H584R CTB-49A3.2_ENST00000509051.1_RNA NM_015082.1 NP_055897.1 Q6MZW2 FSTL4_HUMAN follistatin-like 4 584 extracellular region calcium ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GCGGATGAGGTGCTGGCTCTG 0.557000 8 83 0 0 1 0 0 ZNF619 285267 broad.mit.edu 37 3 40529533 40529533 + Missense_Mutation SNP C C G TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr3:40529533C>G ENST00000447116.2 + 6 1959 c.1652C>G c.(1651-1653)tCt>tGt p.S551C ZNF619_ENST00000456778.1_Missense_Mutation_p.S467C|ZNF619_ENST00000314686.5_Missense_Mutation_p.S495C|ZNF619_ENST00000429348.2_Missense_Mutation_p.S511C|ZNF619_ENST00000432264.2_Missense_Mutation_p.S511C|ZNF619_ENST00000521353.1_Missense_Mutation_p.S551C|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000522736.1_Missense_Mutation_p.S502C NM_001145082.2 NP_001138554.1 E9PCD9 E9PCD9_HUMAN zinc finger protein 619 551 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) CATACCTGCTCTGCCCTAGCC 0.547000 12 22 0 0 1 0 0 NR2F6 2063 broad.mit.edu 37 19 17343311 17343311 + Silent SNP C C T TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr19:17343311C>T ENST00000291442.3 - 4 1784 c.1065G>A c.(1063-1065)ctG>ctA p.L355L NM_005234.3 NP_005225.2 P10588 NR2F6_HUMAN nuclear receptor subfamily 2, group F, member 6 355 Important for dimerization (By similarity).|Ligand-binding (By similarity). negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(1) 5 CGGGGAGCCGCAGCAGCAGGC 0.677000 7 8 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50278598 50278598 + Missense_Mutation SNP A A C TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr18:50278598A>C ENST00000442544.2 + 2 882 c.266A>C c.(265-267)aAg>aCg p.K89T DCC_ENST00000412726.1_5'UTR NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 89 Ig-like C2-type 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GATGAAAGGAAGCAGCAACTT 0.483000 5 42 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 117977676 117977676 + Missense_Mutation SNP G G C TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr12:117977676G>C ENST00000425217.1 - 10 1502 c.1448C>G c.(1447-1449)cCt>cGt p.P483R KSR2_ENST00000339824.5_Missense_Mutation_p.P512R|KSR2_ENST00000302438.5_Missense_Mutation_p.P209R|KSR2_ENST00000545002.1_5'UTR NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 512 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGGCTGGTAAGGGACAGGGAT 0.637000 22 20 0 0 1 0 0 TRBV6-8 0 broad.mit.edu 37 7 142124530 142124530 + RNA SNP A A G TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr7:142124530A>G ENST00000390376.2 - 0 35 CCCACAGGAGAGAAAAGGCCG 0.597000 4 134 0 0 1 0 0 SEMA4G 57715 broad.mit.edu 37 10 102732996 102732996 + Missense_Mutation SNP C C T TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr10:102732996C>T ENST00000210633.3 + 2 313 c.235C>T c.(235-237)Ctc>Ttc p.L79F SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.L79F|SEMA4G_ENST00000370250.4_Missense_Mutation_p.L79F Q9NTN9 SEM4G_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G 79 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) CCTGTTCTCTCTCAGTGCCAA 0.607000 6 15 0 0 1 0 0 MSX2 4488 broad.mit.edu 37 5 174156222 174156222 + Missense_Mutation SNP C C T TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr5:174156222C>T ENST00000239243.6 + 2 567 c.440C>T c.(439-441)aCg>aTg p.T147M MSX2_ENST00000507785.1_3'UTR NM_002449.4 NP_002440.2 P35548 MSX2_HUMAN msh homeobox 2 147 cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 10 Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) AAGCCGCGCACGCCCTTTACC 0.542000 8 12 0 0 1 0 0 SLC30A10 55532 broad.mit.edu 37 1 220091654 220091654 + Missense_Mutation SNP C C T TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr1:220091654C>T ENST00000366926.3 - 3 1062 c.901G>A c.(901-903)Gag>Aag p.E301K SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.E56K NM_018713.2 NP_061183.2 Q6XR72 ZNT10_HUMAN solute carrier family 30, member 10 301 zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 13 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) GCAGCGGTCTCCTTGATAAGC 0.468000 4 75 0 0 1 0 0 EPB41L4B 54566 broad.mit.edu 37 9 111976095 111976095 + Missense_Mutation SNP A A G TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr9:111976095A>G ENST00000374566.3 - 17 2154 c.1637T>C c.(1636-1638)cTg>cCg p.L546P NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 546 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCCTGGACTCAGTTCTACAAA 0.527000 11 31 0 0 1 0 0 AMZ2P1 0 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 5 76 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92600067 92600067 + Missense_Mutation SNP G G A TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr11:92600067G>A ENST00000298047.6 + 21 11836 c.11819G>A c.(11818-11820)cGg>cAg p.R3940Q FAT3_ENST00000525166.1_Missense_Mutation_p.R3790Q|FAT3_ENST00000409404.2_Missense_Mutation_p.R3940Q|FAT3_ENST00000533797.1_Missense_Mutation_p.R275Q Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3940 Laminin G-like. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TACGTGGAGCGGCGCCGGGCG 0.622000 TCGA Ovarian(4;0.039) 3 23 0 0 1 0 0 SEMA3F 6405 broad.mit.edu 37 3 50214257 50214257 + Silent SNP G G A TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr3:50214257G>A ENST00000002829.3 + 7 1090 c.606G>A c.(604-606)ccG>ccA p.P202P SEMA3F_ENST00000434342.1_Silent_p.P171P|SEMA3F_ENST00000413852.1_Silent_p.P103P NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 202 Sema. axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) GCAAGTGTCCGTACGATCCCA 0.617000 3 37 0 0 1 0 0 FANCB 2187 broad.mit.edu 37 X 14861809 14861809 + Missense_Mutation SNP C C A TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chrX:14861809C>A ENST00000398334.1 - 10 2727 c.2460G>T c.(2458-2460)aaG>aaT p.K820N FANCB_ENST00000324138.3_Missense_Mutation_p.K820N NM_001018113.1 NP_001018123.1 Q8NB91 FANCB_HUMAN Fanconi anemia, complementation group B 820 DNA repair nucleoplasm NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 Hepatocellular(33;0.183) ACATTTTCTTCTTTTCTCTCT 0.418000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 10 54 0.000673444 0.00071834 1 1 0 GRIA2 2891 broad.mit.edu 37 4 158255214 158255214 + Missense_Mutation SNP C C T TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr4:158255214C>T ENST00000296526.7 + 9 1533 c.1208C>T c.(1207-1209)cCt>cTt p.P403L GRIA2_ENST00000507898.1_Missense_Mutation_p.P356L|GRIA2_ENST00000449365.1_Missense_Mutation_p.P356L|GRIA2_ENST00000264426.9_Missense_Mutation_p.P403L|GRIA2_ENST00000393815.2_Missense_Mutation_p.P356L NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 403 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) ACTGAGCTCCCTTCTGGAAAT 0.393000 9 106 0 0 1 0 0 VPS54 51542 broad.mit.edu 37 2 64211107 64211107 + Silent SNP T T G TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr2:64211107T>G ENST00000272322.4 - 2 181 c.27A>C c.(25-27)ccA>ccC p.P9P VPS54_ENST00000409558.3_Silent_p.P9P NM_016516.2 NP_057600.2 Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 homolog (S. cerevisiae) 9 protein transport|retrograde transport, endosome to Golgi endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 27 CTTGAGGCACTGGTGAAGAAC 0.413000 35 77 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATCTCTTTATAAAACCTT 0.343000 4 86 0 0 1 0 0 MVK 4598 broad.mit.edu 37 12 110019342 110019342 + Missense_Mutation SNP G G C TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr12:110019342G>C ENST00000228510.3 + 5 590 c.514G>C c.(514-516)Gat>Cat p.D172H MVK_ENST00000392727.3_Intron|MVK_ENST00000539696.1_Intron|MVK_ENST00000535044.1_Intron|MVK_ENST00000541384.1_Intron|MVK_ENST00000539575.1_Intron NM_000431.2|NM_001114185.1 NP_000422.1|NP_001107657.1 Q03426 KIME_HUMAN mevalonate kinase 172 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|peroxisome ATP binding|identical protein binding|mevalonate kinase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 8 GAAGGACGGGGATTGCGTCAA 0.652000 7 15 0 0 1 0 0 CARS 833 broad.mit.edu 37 11 3039171 3039171 + Missense_Mutation SNP T T C TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr11:3039171T>C ENST00000397114.3 - 15 1740 c.1364A>G c.(1363-1365)aAt>aGt p.N455S CARS_ENST00000380525.4_Missense_Mutation_p.N548S|CARS_ENST00000278224.9_Missense_Mutation_p.N465S|CARS_ENST00000401769.3_Missense_Mutation_p.N478S|CARS_ENST00000397111.5_Missense_Mutation_p.N465S P49589 SYCC_HUMAN cysteinyl-tRNA synthetase 465 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding CARS/ALK(5) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1) 31 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) ATCTTTCACATTTAAGAAAAA 0.378000 T ALK ALCL 26 32 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21842308 21842308 + Missense_Mutation SNP A A T TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr5:21842308A>T ENST00000382254.1 - 8 1862 c.776T>A c.(775-777)cTc>cAc p.L259H CDH12_ENST00000504376.2_Missense_Mutation_p.L259H|CDH12_ENST00000522262.1_Missense_Mutation_p.L219H|CDH12_ENST00000521384.1_5'UTR NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 259 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 GACATCGGTGAGAGTGATGTT 0.403000 HNSCC(59;0.17) 6 71 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70866774 70866774 + Missense_Mutation SNP C C T TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr16:70866774C>T ENST00000393567.2 - 80 14026 c.13876G>A c.(13876-13878)Gtg>Atg p.V4626M NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4626 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) GGTGGTCCCACGCAGACTCCA 0.572000 9 24 0 0 1 0 0 KIAA0391 9692 broad.mit.edu 37 14 35592592 35592592 + Silent SNP T T C TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr14:35592592T>C ENST00000557565.1 + 2 522 c.141T>C c.(139-141)tcT>tcC p.S47S KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000604948.1_Intron|KIAA0391_ENST00000603544.1_Silent_p.S47S|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000534898.4_Silent_p.S47S|KIAA0391_ENST00000321130.10_Silent_p.S47S|KIAA0391_ENST00000250377.7_5'UTR O15091 MRRP3_HUMAN KIAA0391 47 tRNA processing mitochondrion central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) GGTTGTTTTCTCTTAAAACAA 0.473000 4 40 0 0 1 0 0 LCMT2 9836 broad.mit.edu 37 15 43621659 43621659 + Silent SNP G G C TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr15:43621659G>C ENST00000305641.5 - 1 1144 c.1029C>G c.(1027-1029)gcC>gcG p.A343A LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_5'UTR NM_014793.4 NP_055608.2 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 343 tRNA processing methyltransferase activity|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1) 20 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) TGACTACGCTGGCAGGGAATA 0.552000 9 21 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 3 47 0 0 1 0 0 THBS3 7059 broad.mit.edu 37 1 155169845 155169845 + Missense_Mutation SNP C C G TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr1:155169845C>G ENST00000368378.3 - 15 1788 c.1768G>C c.(1768-1770)Gat>Cat p.D590H THBS3_ENST00000541990.1_Missense_Mutation_p.D119H|THBS3_ENST00000541576.1_5'UTR|THBS3_ENST00000428962.2_Silent_p.G386G|RP11-263K19.4_ENST00000447623.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000457183.2_Missense_Mutation_p.D470H|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA NM_001252607.1|NM_007112.4 NP_001239536.1|NP_009043.1 P49746 TSP3_HUMAN thrombospondin 3 590 cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CCGTCCTCATCCCTGTCTGTC 0.532000 27 39 0 0 1 0 0 USP7 7874 broad.mit.edu 37 16 8989539 8989539 + Missense_Mutation SNP T T G TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr16:8989539T>G ENST00000344836.4 - 27 3077 c.2879A>C c.(2878-2880)gAa>gCa p.E960A USP7_ENST00000381886.4_Missense_Mutation_p.E944A|USP7_ENST00000535863.1_Missense_Mutation_p.E861A NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 960 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 AGATAAACATTCTAATAGTTC 0.408000 4 35 0 0 1 0 0 PLEKHM1P 0 broad.mit.edu 37 17 62818381 62818381 + RNA SNP C C T TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr17:62818381C>T ENST00000582986.1 - 0 318 NR_024386.1 CGCAAGCGGGCCTGCTCCTGC 0.627000 6 11 0 0 1 0 0 ZNF23 7571 broad.mit.edu 37 16 71482059 71482059 + Missense_Mutation SNP T T A TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr16:71482059T>A ENST00000393539.2 - 6 2682 c.1869A>T c.(1867-1869)aaA>aaT p.K623N RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.K623N|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000428724.2_Missense_Mutation_p.K565N|ZNF23_ENST00000564528.1_Missense_Mutation_p.K565N|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.K623N NM_145911.1 NP_666016.1 P17027 ZNF23_HUMAN zinc finger protein 23 623 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1) 29 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) ACCTGAATGCTTTCCCACACA 0.403000 5 113 0 0 1 0 0 UBC 7316 broad.mit.edu 37 12 125397652 125397652 + Silent SNP T T C rs146795524 TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr12:125397652T>C ENST00000536769.1 - 1 2242 c.666A>G c.(664-666)gtA>gtG p.V222V UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.V222V P0CG48 UBC_HUMAN ubiquitin C 222 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TGAGACGGAGTACCAGGTGCA 0.512000 4 149 0 0 1 0 0 LRRC4B 94030 broad.mit.edu 37 19 51021545 51021545 + Silent SNP A A G TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr19:51021545A>G ENST00000599957.1 - 3 1622 c.1425T>C c.(1423-1425)ggT>ggC p.G475G LRRC4B_ENST00000389201.3_Silent_p.G475G Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 475 Gly-rich. cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) ctccaacaccaccactgcccc 0.751000 3 8 0 0 1 0 0 FMO1 2326 broad.mit.edu 37 1 171251205 171251205 + Missense_Mutation SNP G G A TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr1:171251205G>A ENST00000354841.4 + 6 1047 c.916G>A c.(916-918)Gta>Ata p.V306I FMO1_ENST00000402921.2_Missense_Mutation_p.V243I|FMO1_ENST00000367750.3_Missense_Mutation_p.V306I|FMO1_ENST00000469112.1_3'UTR Q01740 FMO1_HUMAN flavin containing monooxygenase 1 306 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CATAAAAGAGGTAAAGGAAAA 0.408000 13 78 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196254839 196254839 + Missense_Mutation SNP A A G TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr1:196254839A>G ENST00000367433.5 - 22 2674 c.2573T>C c.(2572-2574)tTt>tCt p.F858S KCNT2_ENST00000367431.4_Missense_Mutation_p.F808S|KCNT2_ENST00000294725.8_Missense_Mutation_p.F882S|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 882 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 CCCAGCAGCAAAAGGCAGTCG 0.373000 5 17 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18025164 18025164 + Missense_Mutation SNP C C A TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr17:18025164C>A ENST00000205890.5 + 2 3388 c.3050C>A c.(3049-3051)aCc>aAc p.T1017N NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 1017 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GAAGAGGCCACCCTGGGGGAC 0.622000 3 43 0.115264 0.117094 1 1 0 UNC13C 440279 broad.mit.edu 37 15 54586209 54586209 + Missense_Mutation SNP C C G TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr15:54586209C>G ENST00000545554.1 + 10 3935 c.3935C>G c.(3934-3936)aCa>aGa p.T1312R UNC13C_ENST00000260323.11_Missense_Mutation_p.T1312R|UNC13C_ENST00000537900.1_Missense_Mutation_p.T1310R Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1312 C2 1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CTGGGACAAACAATTGTAGAA 0.353000 4 82 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38101265 38101265 + Missense_Mutation SNP G G A TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr3:38101265G>A ENST00000308059.6 + 3 616 c.595G>A c.(595-597)Gag>Aag p.E199K DLEC1_ENST00000452631.2_Missense_Mutation_p.E199K|DLEC1_ENST00000346219.3_Missense_Mutation_p.E199K Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 199 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) TATAGACAGCGAGTTGCTACG 0.468000 8 191 0 0 1 0 0 RP11-180I4.2 0 broad.mit.edu 37 9 98468147 98468148 + RNA INS - - CAC rs117111638 by1000genomes TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr9:98468147_98468148insCAC ENST00000580326.1 + 0 189 acaatcaccatcaccaccacca 0.574 4 2 --- --- --- --- TRAV9-2 0 broad.mit.edu 37 14 22409540 22409540 + RNA DEL T T - TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr14:22409540delT ENST00000390441.2 + 0 102 tctctctctctTTTTTTTTTT 0.428 2 4 --- --- --- --- GPATCH8 23131 broad.mit.edu 37 17 42476814 42476815 + Frame_Shift_Ins INS - - T TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr17:42476814_42476815insT ENST00000434000.1 - 9 2678_2679 c.2396_2397insA c.(2395-2397)ttcfs p.F799fs GPATCH8_ENST00000591680.1_Frame_Shift_Ins_p.F877fs Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 877 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) TCTGGTCTGAAGAGGCATCTGA 0.554 22 39 --- --- --- --- CTD-2377D24.8 0 broad.mit.edu 37 17 46768842 46768842 + RNA DEL T T - TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr17:46768842delT ENST00000575202.1 + 0 51 ACTACAAATATTCTGAACGGC 0.458 9 12 --- --- --- --- ZNF512B 57473 broad.mit.edu 37 20 62593996 62593996 + Frame_Shift_Del DEL C C - TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65e172e5-0c3a-46a6-9a66-78f0c77d8f7f 5d6e5f5b-51e4-47f3-835d-ea897c775d3a g.chr20:62593996delC ENST00000450537.1 - 13 2167 c.2107delG c.(2107-2109)ccfs p.A703fs ZNF512B_ENST00000369888.1_Frame_Shift_Del_p.A703fs|ZNF512B_ENST00000217130.3_Frame_Shift_Del_p.A703fs Q96KM6 Z512B_HUMAN zinc finger protein 512B 703 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1) 33 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) CAGTCGCGGGCCAGCTCGTCC 0.716 2 4 --- --- --- ---