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 CYYR1 116159 broad.mit.edu 37 21 27852642 27852642 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr21:27852642G>A ENST00000299340.4 - 3 626 c.283C>T c.(283-285)Cgc>Tgc p.R95C CYYR1_ENST00000435845.2_3'UTR|AP001597.1_ENST00000414486.1_RNA|AP001597.1_ENST00000357401.3_RNA|CYYR1_ENST00000400043.3_Missense_Mutation_p.R95C NM_052954.2 NP_443186.1 Q96J86 CYYR1_HUMAN cysteine/tyrosine-rich 1 95 R -> H (in dbSNP:rs35253087). integral to membrane p.R95C(1) large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 ATGCCCACGCGGGTCGCCCTG 0.498000 40 150 0 0 0.008740 0 0 RYR1 6261 broad.mit.edu 37 19 39025446 39025446 + Silent SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr19:39025446C>T ENST00000355481.4 + 78 11462 c.11331C>T c.(11329-11331)atC>atT p.I3777I RYR1_ENST00000360985.3_Silent_p.I3782I|RYR1_ENST00000359596.3_Silent_p.I3782I NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3782 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.I3782I(1) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGCAGATGATCAGTGCCTGCA 0.602000 3 24 0 0 0.009096 0 0 OR52M1 119772 broad.mit.edu 37 11 4566720 4566720 + Missense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr11:4566720G>T ENST00000360213.1 + 1 300 c.300G>T c.(298-300)ttG>ttT p.L100F NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L100F(1) endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ACGCCTGCTTGGGCCAAATGT 0.517000 19 142 6.33239e-15 8.31902e-15 0.010504 1 0 PTPN6 5777 broad.mit.edu 37 12 7060825 7060825 + Missense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr12:7060825G>T ENST00000456013.1 + 2 304 c.62G>T c.(61-63)cGa>cTa p.R21L PTPN6_ENST00000399448.1_Missense_Mutation_p.R23L|PTPN6_ENST00000318974.9_Missense_Mutation_p.R21L|PTPN6_ENST00000447931.2_Intron NM_080549.3 NP_536859.1 P29350 PTN6_HUMAN protein tyrosine phosphatase, non-receptor type 6 21 SH2 1. apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol|membrane|nucleus protein binding|protein tyrosine phosphatase activity p.R21L(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3) 18 CTCAAGGGCCGAGGTGTCCAC 0.672000 12 86 0.000151284 0.000168934 0.001855 1 0 CHMP4B 128866 broad.mit.edu 37 20 32440005 32440005 + Silent SNP A A G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr20:32440005A>G ENST00000217402.2 + 4 771 c.606A>G c.(604-606)aaA>aaG p.K202K NM_176812.4 NP_789782.1 Q9H444 CHM4B_HUMAN charged multivesicular body protein 4B 202 cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding p.K202K(1) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 TACCATCAAAACCCGGTGAGT 0.493000 56 259 0 0 0.014410 0 0 TDP1 55775 broad.mit.edu 37 14 90499508 90499508 + Missense_Mutation SNP C C G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr14:90499508C>G ENST00000335725.4 + 16 1953 c.1703C>G c.(1702-1704)gCc>gGc p.A568G TDP1_ENST00000555880.1_Intron|TDP1_ENST00000357382.3_Missense_Mutation_p.A329G|TDP1_ENST00000393454.2_Missense_Mutation_p.A568G|TDP1_ENST00000393452.3_Silent_p.G583G NM_018319.3 NP_060789.2 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 568 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding p.A568G(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1) 25 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) GAGCCAATGGCCACCTTTCCT 0.453000 Repair of DNA-protein crosslinks 17 18 0 0 0.007413 0 0 CCDC178 374864 broad.mit.edu 37 18 30913186 30913186 + Missense_Mutation SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr18:30913186C>A ENST00000383096.3 - 10 1013 c.831G>T c.(829-831)caG>caT p.Q277H CCDC178_ENST00000300227.8_Missense_Mutation_p.Q277H|CCDC178_ENST00000579947.1_Missense_Mutation_p.Q277H|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Missense_Mutation_p.Q277H|CCDC178_ENST00000583930.1_Missense_Mutation_p.Q277H|CCDC178_ENST00000403303.1_Missense_Mutation_p.Q277H|CCDC178_ENST00000406524.2_Missense_Mutation_p.Q277H coiled-coil domain containing 178 p.Q277H(2) GTTCCTGATTCTGCTTAGAGT 0.323000 29 57 1.06801e-11 1.35013e-11 0.009535 1 0 VPS41 27072 broad.mit.edu 37 7 38791781 38791781 + Missense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr7:38791781C>T ENST00000310301.4 - 22 1975 c.1921G>A c.(1921-1923)Gaa>Aaa p.E641K VPS41_ENST00000395969.2_Missense_Mutation_p.E616K NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) 641 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding p.E641K(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 CTTACCTTTTCAAGTGGGCAA 0.423000 5 275 0 0 0.000602 0 0 FMN2 56776 broad.mit.edu 37 1 240371640 240371640 + Silent SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:240371640G>A ENST00000319653.9 + 5 3758 c.3528G>A c.(3526-3528)ccG>ccA p.P1176P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1176 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.P1319P(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TACCCCCTCCGCCCCCTCTAC 0.687000 7 8 0 0 0.003080 0 0 SYTL4 94121 broad.mit.edu 37 X 99942191 99942191 + Missense_Mutation SNP T T A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chrX:99942191T>A ENST00000455616.1 - 12 1403 c.1057A>T c.(1057-1059)Aac>Tac p.N353Y SYTL4_ENST00000263033.5_Missense_Mutation_p.N353Y|SYTL4_ENST00000372989.1_Missense_Mutation_p.N353Y|SYTL4_ENST00000454200.2_Missense_Mutation_p.N355Y|SYTL4_ENST00000372981.1_3'UTR|SYTL4_ENST00000276141.6_Missense_Mutation_p.N353Y Q96C24 SYTL4_HUMAN synaptotagmin-like 4 353 exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding p.N353Y(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACAAAGATGTTCCCGAAATCA 0.527000 11 69 0 0 0.001855 0 0 TBX21 30009 broad.mit.edu 37 17 45822618 45822618 + Missense_Mutation SNP G G C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr17:45822618G>C ENST00000177694.1 + 6 1705 c.1494G>C c.(1492-1494)aaG>aaC p.K498N NM_013351.1 NP_037483.1 Q9UL17 TBX21_HUMAN T-box 21 498 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.K498N(1) NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 22 GAGACTCTAAGAGGAGGCGCG 0.587000 12 96 0 0 0.010729 0 0 GPR158 57512 broad.mit.edu 37 10 25887829 25887829 + Missense_Mutation SNP A A G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr10:25887829A>G ENST00000376351.3 + 11 3633 c.3274A>G c.(3274-3276)Act>Gct p.T1092A GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 1092 integral to membrane|plasma membrane G-protein coupled receptor activity p.T1092A(1) breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GATTTCCAAGACTCCAGTTCT 0.517000 88 54 0 0 0.014410 0 0 FMO4 2329 broad.mit.edu 37 1 171293296 171293296 + Missense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:171293296C>T ENST00000367749.3 + 5 671 c.341C>T c.(340-342)aCg>aTg p.T114M FMO4_ENST00000462992.1_3'UTR NM_002022.1 NP_002013.1 P31512 FMO4_HUMAN flavin containing monooxygenase 4 114 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding p.T114M(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TGCAGCATAACGAAGCGTCCA 0.463000 121 490 0 0 0.014410 0 0 STK36 27148 broad.mit.edu 37 2 219563551 219563551 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr2:219563551G>A ENST00000295709.3 + 26 3563 c.3284G>A c.(3283-3285)aGc>aAc p.S1095N STK36_ENST00000440309.1_Missense_Mutation_p.S1095N|STK36_ENST00000392105.3_Missense_Mutation_p.S1074N|STK36_ENST00000392106.2_Missense_Mutation_p.S1074N NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 1095 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) CTGTCTCCCAGCCACTTGTCC 0.587000 3 77 0 0 0.004672 0 0 KCNJ4 3761 broad.mit.edu 37 22 38824024 38824024 + Silent SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr22:38824024C>T ENST00000303592.3 - 2 372 c.114G>A c.(112-114)aaG>aaA p.K38K NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 38 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding p.K38K(1) endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) AGCGCTGCGACTTGTTGCTCA 0.627000 114 158 0 0 0.014410 0 0 LRRC40 55631 broad.mit.edu 37 1 70625095 70625095 + Missense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:70625095C>T ENST00000370952.3 - 10 1217 c.1138G>A c.(1138-1140)Gct>Act p.A380T NM_017768.4 NP_060238.3 Q9H9A6 LRC40_HUMAN leucine rich repeat containing 40 380 p.A380I(1) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2) 27 GTCTCAGTAGCAGACTCACTT 0.303000 4 38 0 0 0.000602 0 0 EME2 197342 broad.mit.edu 37 16 1825151 1825151 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr16:1825151G>A ENST00000307394.7 + 4 587 c.587G>A c.(586-588)tGc>tAc p.C196Y EME2_ENST00000568449.1_Intron A4GXA9 EME2_HUMAN essential meiotic structure-specific endonuclease subunit 2 190 DNA recombination|DNA repair nucleus DNA binding|endonuclease activity p.C196*(1) central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1) 9 TCACTCTCATGCCCACAGCAG 0.672000 Direct reversal of damage;Homologous recombination 17 133 0 0 0.008871 0 0 RANBP17 64901 broad.mit.edu 37 5 170319516 170319516 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr5:170319516G>A ENST00000523189.1 + 4 546 c.382G>A c.(382-384)Gtc>Atc p.V128I NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 128 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity p.V128I(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGACCAATTTGTCTTCAGAGA 0.388000 T TRD@ ALL 61 156 0 0 0.014410 0 0 MGA 23269 broad.mit.edu 37 15 41988517 41988517 + Nonsense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr15:41988517G>T ENST00000219905.7 + 3 1490 c.1309G>T c.(1309-1311)Gaa>Taa p.E437* MGA_ENST00000570161.1_Nonsense_Mutation_p.E437*|MGA_ENST00000545763.1_Nonsense_Mutation_p.E437*|MGA_ENST00000566586.1_Nonsense_Mutation_p.E437*|MGA_ENST00000389936.4_Nonsense_Mutation_p.E437*|MGA_ENST00000568630.1_3'UTR NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 437 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity p.E437*(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TGACAACCCAGAAGCTGACCA 0.408000 28 31 1.08312e-15 1.43228e-15 0.009535 1 0 CLEC4F 165530 broad.mit.edu 37 2 71036905 71036905 + Missense_Mutation SNP C C G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr2:71036905C>G ENST00000272367.2 - 6 1700 c.1624G>C c.(1624-1626)Gat>Cat p.D542H CLEC4F_ENST00000426626.1_Missense_Mutation_p.D542H NM_001258027.1|NM_173535.2 NP_001244956.1|NP_775806.2 Q8N1N0 CLC4F_HUMAN C-type lectin domain family 4, member F 542 C-type lectin. endocytosis integral to membrane receptor activity|sugar binding p.D542H(1) endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 GGTGTCCCATCTGTCCAGCGC 0.552000 42 85 0 0 0.009718 0 0 RNF148 378925 broad.mit.edu 37 7 122342609 122342609 + Missense_Mutation SNP A A T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr7:122342609A>T ENST00000434824.1 - 1 412 c.196T>A c.(196-198)Tct>Act p.S66T RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron NM_198085.1 NP_932351.1 Q8N7C7 RN148_HUMAN ring finger protein 148 66 PA. integral to membrane zinc ion binding p.S66T(2) endometrium(2)|kidney(1)|large_intestine(6)|lung(7) 16 TCCAGAGGAGAATGATTCCCG 0.468000 16 108 0 0 0.004007 0 0 NPAS4 266743 broad.mit.edu 37 11 66189606 66189606 + Missense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr11:66189606G>T ENST00000311034.2 + 2 367 c.191G>T c.(190-192)gGc>gTc p.G64V NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 64 transcription, DNA-dependent DNA binding|signal transducer activity p.G64V(1) breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CCTCTGGCGGGCCCCACGGGG 0.572000 11 65 1.61879e-10 1.99618e-10 0.013537 1 0 DNMT1 1786 broad.mit.edu 37 19 10252742 10252742 + Missense_Mutation SNP A A C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr19:10252742A>C ENST00000340748.4 - 29 3458 c.3223T>G c.(3223-3225)Tac>Gac p.Y1075D DNMT1_ENST00000540357.1_Missense_Mutation_p.Y1075D|DNMT1_ENST00000359526.4_Missense_Mutation_p.Y1091D|DNMT1_ENST00000589538.1_5'UTR P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 1075 BAH 2. chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding p.Y1075D(1) breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CCCATGGAGTACACCTGGACG 0.632000 3 25 0 0 0.009096 0 0 POLR2B 5431 broad.mit.edu 37 4 57889908 57889908 + Silent SNP T T C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr4:57889908T>C ENST00000381227.1 + 21 3260 c.2847T>C c.(2845-2847)taT>taC p.Y949Y POLR2B_ENST00000441246.2_Silent_p.Y942Y|POLR2B_ENST00000431623.2_Silent_p.Y874Y|POLR2B_ENST00000314595.5_Silent_p.Y949Y P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 949 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding p.Y949Y(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) GTATTCAGTATAGACAAGAGG 0.333000 49 99 0 0 0.014410 0 0 MAPT 4137 broad.mit.edu 37 17 44061120 44061120 + Missense_Mutation SNP A A C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr17:44061120A>C ENST00000344290.5 + 6 1272 c.950A>C c.(949-951)cAc>cCc p.H317P MAPT_ENST00000574436.1_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.H317P|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.H317P|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.H317P NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 317 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton p.H317P(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) GAGCAGGCGCACTCGGAGGAG 0.647000 11 90 0 0 0.013537 0 0 LCMT1 51451 broad.mit.edu 37 16 25175965 25175965 + Missense_Mutation SNP C C G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr16:25175965C>G ENST00000399069.3 + 7 771 c.616C>G c.(616-618)Cca>Gca p.P206A LCMT1_ENST00000380966.4_Missense_Mutation_p.P151A|LCMT1_ENST00000572869.1_3'UTR NM_016309.2 NP_057393.2 Q9UIC8 LCMT1_HUMAN leucine carboxyl methyltransferase 1 206 protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity p.P206A(1) GBM - Glioblastoma multiforme(48;0.0336) L-Leucine(DB00149) TTACATGACTCCAGAGCAGTC 0.438000 4 108 0 0 0.009096 0 0 ARID3B 10620 broad.mit.edu 37 15 74883593 74883593 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr15:74883593G>A ENST00000346246.5 + 6 1214 c.983G>A c.(982-984)cGg>cAg p.R328Q NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 328 Interaction with RB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.R328Q(1) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 GAGGGCCGGCGGCCCAGCTAC 0.617000 22 155 0 0 0.005443 0 0 NGEF 25791 broad.mit.edu 37 2 233757737 233757737 + Missense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr2:233757737C>T ENST00000264051.3 - 7 1291 c.1013G>A c.(1012-1014)cGg>cAg p.R338Q NGEF_ENST00000373552.4_Missense_Mutation_p.R246Q|NGEF_ENST00000539537.1_Missense_Mutation_p.R61Q NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 338 DH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity p.R338Q(2) central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) CTCCTCCATCCGGTGCTCCAG 0.592000 24 69 0 0 0.008361 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68274475 68274475 + Missense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr14:68274475G>T ENST00000347230.4 - 5 664 c.526C>A c.(526-528)Ctt>Att p.L176I ZFYVE26_ENST00000555452.1_Missense_Mutation_p.L176I NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 176 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding p.L176I(1)|p.L176V(1) 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) TCCTCCTCAAGCAGGAGCTCC 0.607000 31 182 6.70999e-13 8.59049e-13 0.004289 1 0 PARP14 54625 broad.mit.edu 37 3 122446793 122446793 + Silent SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr3:122446793C>T ENST00000474629.2 + 16 5342 c.5076C>T c.(5074-5076)gtC>gtT p.V1692V NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1692 PARP catalytic. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity p.V1529V(1)|p.V1692V(1) NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) TGCCACACGTCAATCGAAATG 0.502000 44 20 0 0 0.014410 0 0 TBX22 50945 broad.mit.edu 37 X 79286464 79286464 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chrX:79286464G>A ENST00000442340.1 + 9 1547 c.1057G>A c.(1057-1059)Gac>Aac p.D353N TBX22_ENST00000373294.5_Missense_Mutation_p.D473N|TBX22_ENST00000373296.3_Missense_Mutation_p.D473N|TBX22_ENST00000373291.1_Missense_Mutation_p.D353N NM_001109878.1|NM_001109879.1 NP_001103348.1|NP_001103349.1 Q9Y458 TBX22_HUMAN T-box 22 473 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.D473N(1) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TCCTTCCTATGACTTTTATAG 0.378000 12 101 0 0 0.013537 0 0 SERPINA11 256394 broad.mit.edu 37 14 94914835 94914835 + Missense_Mutation SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr14:94914835C>A ENST00000334708.3 - 2 341 c.277G>T c.(277-279)Gct>Tct p.A93S RP11-349I1.2_ENST00000536735.1_RNA NM_001080451.1 NP_001073920.1 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 93 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity p.A275S(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1) 24 COAD - Colon adenocarcinoma(157;0.211) GAGGTGTTAGCTTGGGCCCCA 0.597000 22 129 8.10497e-08 9.58294e-08 0.010504 1 0 SPIRE1 56907 broad.mit.edu 37 18 12546780 12546780 + Missense_Mutation SNP C C G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr18:12546780C>G ENST00000409402.4 - 3 763 c.496G>C c.(496-498)Gct>Cct p.A166P SPIRE1_ENST00000383356.2_Missense_Mutation_p.A7P|SPIRE1_ENST00000309836.5_Intron|SPIRE1_ENST00000453447.2_Missense_Mutation_p.A46P|SPIRE1_ENST00000410092.3_Missense_Mutation_p.A166P NM_001128626.1 NP_001122098.1 Q08AE8 SPIR1_HUMAN spire-type actin nucleation factor 1 166 KIND. cytoskeleton|perinuclear region of cytoplasm actin binding p.A166P(1)|p.A7P(1) breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1) 28 CTACCGTCAGCTTCCACCGTG 0.448000 31 192 0 0 0.013726 0 0 CD200 4345 broad.mit.edu 37 3 112068659 112068659 + Missense_Mutation SNP G G C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr3:112068659G>C ENST00000315711.8 + 5 852 c.795G>C c.(793-795)caG>caC p.Q265H CD200_ENST00000473539.1_Missense_Mutation_p.Q290H|CD200_ENST00000383681.3_Missense_Mutation_p.Q191H NM_005944.5 NP_005935.4 P41217 OX2G_HUMAN CD200 molecule 265 regulation of immune response integral to plasma membrane p.Q290H(1) endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05) ACCGGAATCAGGACCGAGGTG 0.363000 19 49 0 0 0.007413 0 0 SRCRB4D 136853 broad.mit.edu 37 7 76026893 76026893 + Silent SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr7:76026893G>A ENST00000275560.3 - 6 1157 c.810C>T c.(808-810)agC>agT p.S270S ZP3_ENST00000336517.4_5'UTR NM_080744.1 NP_542782.1 Q8WTU2 SRB4D_HUMAN scavenger receptor cysteine rich domain containing, group B (4 domains) 270 SRCR 2. extracellular region|membrane scavenger receptor activity p.S270S(1) autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 21 CCCAGCCCAGGCTCTGGCAGG 0.726000 5 6 0 0 0.010729 0 0 FBXL7 23194 broad.mit.edu 37 5 15928521 15928521 + Missense_Mutation SNP T T G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr5:15928521T>G ENST00000504595.1 + 3 1131 c.650T>G c.(649-651)cTg>cGg p.L217R FBXL7_ENST00000510662.1_Missense_Mutation_p.L170R|FBXL7_ENST00000329673.7_Missense_Mutation_p.L205R NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 217 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.L217R(1) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 CTGAGGCGACTGGAAGTCTCA 0.562000 22 87 0 0 0.004656 0 0 SNX12 29934 broad.mit.edu 37 X 70288110 70288110 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chrX:70288110G>A ENST00000374274.3 - 1 163 c.47C>T c.(46-48)cCg>cTg p.P16L SNX12_ENST00000276105.3_Missense_Mutation_p.P16L|SNX12_ENST00000465030.1_5'UTR NM_001256185.1|NM_001256188.1|NM_013346.3 NP_001243114.1|NP_001243117.1|NP_037478.2 Q9UMY4 SNX12_HUMAN sorting nexin 12 16 cell communication|protein transport membrane phosphatidylinositol binding|protein binding p.P16L(1) endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 8 Renal(35;0.156) CAGGTCCTGCGGCTTCGAGTT 0.627000 3 19 0 0 0.000602 0 0 FBXO38 81545 broad.mit.edu 37 5 147782066 147782066 + Silent SNP A A G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr5:147782066A>G ENST00000340253.5 + 5 750 c.582A>G c.(580-582)ttA>ttG p.L194L FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000296701.6_Silent_p.L194L|FBXO38_ENST00000394370.3_Silent_p.L194L|FBXO38_ENST00000513826.1_Silent_p.L194L Q6PIJ6 FBX38_HUMAN F-box protein 38 194 cytoplasm|nucleus p.L194L(1) ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCAAACTTTACATTTAGTTG 0.318000 28 55 0 0 0.007291 0 0 ATP4A 495 broad.mit.edu 37 19 36054337 36054337 + Silent SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr19:36054337C>A ENST00000262623.3 - 2 133 c.105G>T c.(103-105)ggG>ggT p.G35G NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 35 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding p.G35G(1) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) TCTTGCCACCCCCGCCACCCG 0.602000 28 347 6.50621e-10 7.878e-10 0.013726 1 0 MEGF10 84466 broad.mit.edu 37 5 126676236 126676236 + Missense_Mutation SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr5:126676236C>A ENST00000274473.6 + 5 500 c.233C>A c.(232-234)aCa>aAa p.T78K MEGF10_ENST00000508365.1_Missense_Mutation_p.T78K|MEGF10_ENST00000503335.2_Missense_Mutation_p.T78K|MEGF10_ENST00000418761.2_Missense_Mutation_p.T78K NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 78 EMI.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup p.T78K(1) breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) AGCTATCGGACAGCCTATCGA 0.373000 12 72 2.27111e-07 2.63869e-07 0.013537 1 0 LIG1 3978 broad.mit.edu 37 19 48660337 48660337 + Missense_Mutation SNP T T G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr19:48660337T>G ENST00000263274.7 - 5 723 c.304A>C c.(304-306)Aat>Cat p.N102H LIG1_ENST00000536218.1_Missense_Mutation_p.N102H|LIG1_ENST00000599165.1_Intron|LIG1_ENST00000427526.2_Missense_Mutation_p.N72H NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 102 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding p.N102H(1) breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) AGGGAAGCATTGTTCTCAGGA 0.602000 Nucleotide excision repair (NER) 5 191 0 0 0.001984 0 0 OR4A47 403253 broad.mit.edu 37 11 48510483 48510483 + Missense_Mutation SNP G G A rs142333570 byFrequency TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr11:48510483G>A ENST00000446524.1 + 1 215 c.139G>A c.(139-141)Gta>Ata p.V47I NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V47I(1) NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 TGTAGTGACCGTAACTGTCAG 0.418000 22 18 0 0 0.005443 0 0 LAMB1 3912 broad.mit.edu 37 7 107615484 107615484 + Missense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr7:107615484C>T ENST00000393561.1 - 10 1685 c.1501G>A c.(1501-1503)Ggt>Agt p.G501S LAMB1_ENST00000222399.6_Missense_Mutation_p.G477S|LAMB1_ENST00000393560.1_Missense_Mutation_p.G477S P07942 LAMB1_HUMAN laminin, beta 1 477 Laminin EGF-like 4. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent p.G477S(1) NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TAGCAGTGACCTGTCTCGGAA 0.483000 28 32 0 0 0.008361 0 0 ANO5 203859 broad.mit.edu 37 11 22281108 22281108 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr11:22281108G>A ENST00000324559.8 + 15 1768 c.1451G>A c.(1450-1452)cGc>cAc p.R484H NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 484 chloride channel complex|endoplasmic reticulum membrane chloride channel activity p.R484H(1) breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ATTGTGTACCGCCTGTCAGTC 0.413000 18 108 0 0 0.012319 0 0 GLI3 2737 broad.mit.edu 37 7 42006187 42006187 + Silent SNP C C T rs116840759 TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr7:42006187C>T ENST00000395925.3 - 15 2568 c.2484G>A c.(2482-2484)ccG>ccA p.P828P GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 828 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P828P(2) NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 CGCTTCTGCCCGGGAGAAGCG 0.592000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 20 195 0 0 0.012319 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217285083 217285083 + Missense_Mutation SNP C C G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr2:217285083C>G ENST00000357276.4 + 5 1254 c.924C>G c.(922-924)agC>agG p.S308R SMARCAL1_ENST00000358207.5_Missense_Mutation_p.S308R NM_014140.3 NP_054859.2 Q9NZC9 SMAL1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 308 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity p.S308R(1) NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) CCTATGGCAGCAGCGAGTCAC 0.567000 Schimke Immuno-Osseous Dysplasia 3 36 0 0 0.001168 0 0 ZNF804B 219578 broad.mit.edu 37 7 88966114 88966114 + Missense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr7:88966114C>T ENST00000333190.4 + 4 4427 c.3818C>T c.(3817-3819)gCt>gTt p.A1273V NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1273 intracellular zinc ion binding p.A1273V(1) NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TTAGTAGCTGCTACCCCCTTC 0.473000 HNSCC(36;0.09) 83 229 0 0 0.014410 0 0 ZNF577 84765 broad.mit.edu 37 19 52380585 52380585 + Missense_Mutation SNP C C G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr19:52380585C>G ENST00000420592.1 - 5 1566 c.233G>C c.(232-234)gGa>gCa p.G78A ZNF577_ENST00000451628.2_Missense_Mutation_p.G78A|ZNF577_ENST00000412216.1_Missense_Mutation_p.G78A|ZNF577_ENST00000301399.5_Missense_Mutation_p.G78A|ZNF577_ENST00000485702.1_5'UTR Q9BSK1 ZN577_HUMAN zinc finger protein 577 0 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G71A(1) breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) TGGGGGTTCTCCTTGCTCCAA 0.498000 8 164 0 0 0.010729 0 0 FMOD 2331 broad.mit.edu 37 1 203316507 203316507 + Missense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:203316507G>T ENST00000354955.4 - 2 1355 c.892C>A c.(892-894)Cta>Ata p.L298I FMOD_ENST00000464898.1_5'UTR NM_002023.4 NP_002014.2 Q06828 FMOD_HUMAN fibromodulin 298 transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix p.L298I(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17 BRCA - Breast invasive adenocarcinoma(75;0.171) GAGAGGTCTAGCTCAAGGAGG 0.567000 67 173 1.26778e-28 1.73349e-28 0.014410 1 0 KIF4A 24137 broad.mit.edu 37 X 69563564 69563564 + Silent SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chrX:69563564G>A ENST00000374403.3 + 12 1360 c.1278G>A c.(1276-1278)gcG>gcA p.A426A KIF4A_ENST00000374388.3_Silent_p.A426A NM_012310.4 NP_036442.3 O95239 KIF4A_HUMAN kinesin family member 4A 426 anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding p.A426A(1) breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 51 CAGAGCAAGCGAATGAAAAAA 0.448000 8 59 0 0 0.003080 0 0 OR4K5 79317 broad.mit.edu 37 14 20389573 20389573 + Missense_Mutation SNP T T C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr14:20389573T>C ENST00000315915.4 + 1 833 c.808T>C c.(808-810)Ttt>Ctt p.F270L NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F270L(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTTGGATAAATTTCTTGCCAT 0.388000 16 296 0 0 0.006122 0 0 SLC13A2 9058 broad.mit.edu 37 17 26818601 26818601 + Missense_Mutation SNP G G C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr17:26818601G>C ENST00000444914.3 + 5 1288 c.868G>C c.(868-870)Gca>Cca p.A290P SLC13A2_ENST00000545060.1_Missense_Mutation_p.A198P|SLC13A2_ENST00000537681.1_Missense_Mutation_p.A170P|SLC13A2_ENST00000314669.5_Missense_Mutation_p.A241P NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 241 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity p.A241T(1)|p.A290T(1)|p.A241P(1)|p.A290P(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) GACTGGCACCGCACCCAACCT 0.627000 13 79 0 0 0.003163 0 0 PRUNE2 158471 broad.mit.edu 37 9 79324375 79324375 + Missense_Mutation SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr9:79324375C>A ENST00000428286.1 - 8 2938 c.1738G>T c.(1738-1740)Gat>Tat p.D580Y PRUNE2_ENST00000376718.3_Missense_Mutation_p.D939Y Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 939 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity p.D939Y(1) endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 AAGAAGGAATCTTCCCAAGGA 0.423000 81 144 7.7321e-48 1.06449e-47 0.014410 1 0 C15orf48 84419 broad.mit.edu 37 15 45723236 45723236 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr15:45723236G>A ENST00000344300.3 + 2 264 c.74G>A c.(73-75)gGt>gAt p.G25D C15orf48_ENST00000396650.2_Missense_Mutation_p.G25D|RP11-519G16.5_ENST00000559553.1_RNA NM_032413.3 NP_115789.1 Q9C002 NMES1_HUMAN chromosome 15 open reading frame 48 25 nucleus p.G25D(1) large_intestine(1)|lung(2)|ovary(1) 4 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06) GTGGCGGCGGGTGGAGCCTCA 0.423000 20 68 0 0 0.007291 0 0 HGFAC 3083 broad.mit.edu 37 4 3446354 3446354 + Nonsense_Mutation SNP T T A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr4:3446354T>A ENST00000382774.3 + 7 850 c.735T>A c.(733-735)tgT>tgA p.C245* HGFAC_ENST00000511533.1_Nonsense_Mutation_p.C245* NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator 245 EGF-like 2. proteolysis extracellular space protein binding|serine-type endopeptidase activity p.C245*(1) central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CCCCAGCTTGTCTGAGCAGCC 0.711000 4 11 0 0 0.009096 0 0 BRINP1 1620 broad.mit.edu 37 9 122000956 122000956 + Missense_Mutation SNP G G A rs1473785 TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr9:122000956G>A ENST00000265922.3 - 5 1123 c.662C>T c.(661-663)aCg>aTg p.T221M DBC1_ENST00000373964.2_Missense_Mutation_p.T221M NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 221 MACPF. cell cycle arrest|cell death cytoplasm protein binding p.T221M(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 TTTGCTCTCCGTGCTTTGCAG 0.512000 18 42 0 0 0.008871 0 0 YEATS2 55689 broad.mit.edu 37 3 183476724 183476724 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr3:183476724G>A ENST00000305135.5 + 13 1822 c.1627G>A c.(1627-1629)Gga>Aga p.G543R NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 543 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding p.G543R(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TAAAATTCATGGAAGTAGTTT 0.358000 39 101 0 0 0.009718 0 0 RWDD2B 10069 broad.mit.edu 37 21 30378852 30378852 + Missense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr21:30378852G>T ENST00000493196.1 - 5 946 c.846C>A c.(844-846)ttC>ttA p.F282L RWDD2B_ENST00000486719.1_5'UTR NM_016940.2 NP_058636.1 P57060 RWD2B_HUMAN RWD domain containing 2B 282 p.F282L(1) endometrium(1)|kidney(1)|large_intestine(8)|lung(2) 12 CATTAACACTGAACACTTTTT 0.388000 18 130 6.49762e-13 8.37193e-13 0.006122 1 0 TYMS 7298 broad.mit.edu 37 18 670729 670729 + Silent SNP C C G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr18:670729C>G ENST00000323274.10 + 5 733 c.594C>G c.(592-594)ctC>ctG p.L198L TYMS_ENST00000323250.5_Silent_p.L115L|TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323224.7_Silent_p.L164L NM_001071.2 NP_001062.1 P04818 TYSY_HUMAN thymidylate synthetase 198 DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus cytosol thymidylate synthase activity p.L198L(1) endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2) 8 Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432) GCCATGCCCTCTGCCAGTTCT 0.557000 45 189 0 0 0.009718 0 0 KCNK2 3776 broad.mit.edu 37 1 215259842 215259842 + Nonsense_Mutation SNP A A T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:215259842A>T ENST00000444842.2 + 2 328 c.178A>T c.(178-180)Aag>Tag p.K60* KCNK2_ENST00000391894.2_Nonsense_Mutation_p.K45*|KCNK2_ENST00000391895.2_Nonsense_Mutation_p.K56* NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 60 outward rectifier potassium channel activity p.K60*(1)|p.K45*(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) TATGAAATGGAAGACGGTCTC 0.512000 52 54 0 0 0.014410 0 0 FCN1 2219 broad.mit.edu 37 9 137806617 137806617 + Missense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr9:137806617G>T ENST00000371806.3 - 3 347 c.256C>A c.(256-258)Cca>Aca p.P86T NM_002003.3 NP_001994.2 O00602 FCN1_HUMAN ficolin (collagen/fibrinogen domain containing) 1 86 Collagen-like. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding p.P86T(1) endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) GGCCCCACTGGTCCTGCCTTT 0.527000 3 16 0.000602214 0.000654298 0.000602 1 0 FAM111B 374393 broad.mit.edu 37 11 58892054 58892054 + Missense_Mutation SNP C C G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr11:58892054C>G ENST00000343597.3 + 4 675 c.484C>G c.(484-486)Caa>Gaa p.Q162E FAM111B_ENST00000529618.1_Missense_Mutation_p.Q132E|FAM111B_ENST00000411426.1_Missense_Mutation_p.Q132E NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 162 catalytic activity p.Q162E(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 TACATTTGGTCAAAGAAAGAG 0.338000 4 51 0 0 0.009096 0 0 DPY19L2 283417 broad.mit.edu 37 12 64055199 64055199 + Missense_Mutation SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr12:64055199C>A ENST00000324472.4 - 4 696 c.513G>T c.(511-513)tgG>tgT p.W171C RP11-415I12.3_ENST00000509615.2_RNA NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 171 multicellular organismal development|spermatid development integral to membrane p.W171C(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) TCATAATCATCCACAGTCCTT 0.303000 13 267 1.3612e-06 1.56344e-06 0.003163 1 0 SALL1 6299 broad.mit.edu 37 16 51174943 51174943 + Missense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr16:51174943G>T ENST00000440970.1 - 2 1330 c.899C>A c.(898-900)tCc>tAc p.S300Y SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S397Y NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 397 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S397Y(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CGAGTTAGCGGAGGCTTGCTG 0.498000 12 139 6.42651e-13 8.33374e-13 0.010729 1 0 ADAMTSL3 57188 broad.mit.edu 37 15 84611522 84611522 + Silent SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr15:84611522C>T ENST00000286744.5 + 18 2516 c.2292C>T c.(2290-2292)caC>caT p.H764H ADAMTSL3_ENST00000567476.1_Silent_p.H764H NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 764 TSP type-1 6. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding p.H764H(1) NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) CTGGCTGGCACATTGAAGAAT 0.572000 3 23 0 0 0.009096 0 0 PRRT2 112476 broad.mit.edu 37 16 29825755 29825755 + Silent SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr16:29825755C>A ENST00000358758.7 + 3 1264 c.981C>A c.(979-981)atC>atA p.I327I PRRT2_ENST00000300797.6_3'UTR|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000567659.1_Silent_p.I327I NM_001256442.1|NM_001256443.1|NM_145239.2 NP_001243371.1|NP_001243372.1|NP_660282.2 Q7Z6L0 PRRT2_HUMAN proline-rich transmembrane protein 2 327 response to biotic stimulus integral to membrane p.I327I(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 8 GAGTCCTCATCATCATCGCCT 0.642000 7 103 0.000157383 0.000173813 0.003080 1 0 RHPN2 85415 broad.mit.edu 37 19 33503585 33503585 + Missense_Mutation SNP C C G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr19:33503585C>G ENST00000254260.3 - 5 471 c.436G>C c.(436-438)Gat>Cat p.D146H RHPN2_ENST00000400226.4_5'UTR NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 146 BRO1. signal transduction perinuclear region of cytoplasm protein binding p.D146H(1) NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) GCAATTTCATCTTCATATAAA 0.398000 14 119 0 0 0.003163 0 0 SPATA22 84690 broad.mit.edu 37 17 3343538 3343538 + Missense_Mutation SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr17:3343538C>A ENST00000573128.1 - 9 1478 c.995G>T c.(994-996)aGa>aTa p.R332I SPATA22_ENST00000397168.3_Missense_Mutation_p.R332I|SPATA22_ENST00000355380.4_Missense_Mutation_p.R289I|SPATA22_ENST00000575375.1_Missense_Mutation_p.R332I|SPATA22_ENST00000268981.5_3'UTR|SPATA22_ENST00000541913.1_Missense_Mutation_p.R316I|SPATA22_ENST00000572969.1_Missense_Mutation_p.R332I Q8NHS9 SPT22_HUMAN spermatogenesis associated 22 332 p.R332I(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2) 19 AGACGCCGGTCTGACAGAAAC 0.378000 7 124 5.18039e-06 5.91624e-06 0.003080 1 0 TTN 7273 broad.mit.edu 37 2 179592019 179592019 + Silent SNP T T A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr2:179592019T>A ENST00000589042.1 - 69 20297 c.20073A>T c.(20071-20073)atA>atT p.I6691I TTN_ENST00000591111.1_Silent_p.I6374I|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.I5447I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6374 Ig-like 48. 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) GGGATCCAGCTATCTTGCATT 0.423000 8 32 0 0 0.006214 0 0 ZNF711 7552 broad.mit.edu 37 X 84526697 84526697 + Missense_Mutation SNP T T A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chrX:84526697T>A ENST00000360700.4 + 10 3173 c.2287T>A c.(2287-2289)Tct>Act p.S763T ZNF711_ENST00000542798.1_Missense_Mutation_p.S559T|ZNF711_ENST00000373165.3_Missense_Mutation_p.S717T|ZNF711_ENST00000395402.1_Missense_Mutation_p.S725T|ZNF711_ENST00000276123.3_Missense_Mutation_p.S717T Q9Y462 ZN711_HUMAN zinc finger protein 711 717 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding p.S717T(1)|p.S727T(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 TACAGATGCATCTGGCTTTAA 0.368000 18 130 0 0 0.008871 0 0 IGSF10 285313 broad.mit.edu 37 3 151155695 151155695 + Silent SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr3:151155695G>A ENST00000282466.3 - 6 6653 c.6654C>T c.(6652-6654)ccC>ccT p.P2218P IGSF10_ENST00000495443.1_5'UTR NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 2218 Ig-like C2-type 8. cell differentiation|multicellular organismal development|ossification extracellular region p.P2218P(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CATCCCCACTGGGATTTCGGG 0.423000 54 111 0 0 0.014410 0 0 UBN2 254048 broad.mit.edu 37 7 138957090 138957090 + Missense_Mutation SNP T T C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr7:138957090T>C ENST00000288561.8 + 9 1619 c.1370T>C c.(1369-1371)cTg>cCg p.L457P UBN2_ENST00000473989.2_Missense_Mutation_p.L540P NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 540 p.L457P(1) 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 AGAGAACCTCTGCAAAAACTG 0.373000 32 158 0 0 0.012213 0 0 SUN1 23353 broad.mit.edu 37 7 901102 901102 + Splice_Site SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr7:901102G>A ENST00000456758.2 + 21 2431 c.e21+1 SUN1_ENST00000401592.1_Splice_Site|SUN1_ENST00000413514.2_Splice_Site|SUN1_ENST00000405266.1_Splice_Site|SUN1_ENST00000452783.2_Splice_Site|SUN1_ENST00000389574.3_Splice_Site|SUN1_ENST00000425407.2_Splice_Site O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding p.?(2) NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GAATCTGGTGGTGAGTAAATA 0.507000 62 80 0 0 0.014410 0 0 PDZRN4 29951 broad.mit.edu 37 12 41587896 41587896 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr12:41587896G>A ENST00000402685.2 + 3 757 c.749G>A c.(748-750)gGa>gAa p.G250E NM_001164595.1 NP_001158067.1 Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 250 PDZ 1. ubiquitin-protein ligase activity|zinc ion binding p.G250E(1) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) AATCAGGAAGGAACATCGACT 0.318000 6 48 0 0 0.001168 0 0 CLVS1 157807 broad.mit.edu 37 8 62289222 62289222 + Missense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr8:62289222G>T ENST00000519846.1 + 4 986 c.514G>T c.(514-516)Gat>Tat p.D172Y CLVS1_ENST00000325897.4_Missense_Mutation_p.D172Y|CLVS1_ENST00000518592.1_5'UTR Q8IUQ0 CLVS1_HUMAN clavesin 1 172 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity p.D172Y(1) endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 CCTAATCGAAGATCCGGAGCT 0.443000 24 182 3.6726e-16 4.8887e-16 0.003954 1 0 FLG2 388698 broad.mit.edu 37 1 152323784 152323784 + Missense_Mutation SNP A A T rs113396101 TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:152323784A>T ENST00000388718.5 - 3 6550 c.6478T>A c.(6478-6480)Tct>Act p.S2160T FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 2160 calcium ion binding|structural molecule activity p.S2160T(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCATGACCAGACTGGCCATGT 0.512000 127 498 0 0 0.014410 0 0 TRPM2 7226 broad.mit.edu 37 21 45821603 45821603 + Silent SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr21:45821603C>T ENST00000397928.1 + 16 2806 c.2361C>T c.(2359-2361)cgC>cgT p.R787R TRPM2_ENST00000397932.2_Silent_p.R787R|TRPM2_ENST00000300482.5_Silent_p.R787R|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.R767R NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 787 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity p.R787R(1) breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CCGCGGCCCGCGCCCGTGCCT 0.647000 18 185 0 0 0.007413 0 0 CP 1356 broad.mit.edu 37 3 148903209 148903209 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr3:148903209G>A ENST00000264613.6 - 12 2364 c.2102C>T c.(2101-2103)aCa>aTa p.T701I CP_ENST00000462336.1_Intron NM_000096.3 NP_000087.1 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 701 F5/8 type A 2.|Plastocyanin-like 4. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity p.T701I(1) breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) ATGATCAGTTGTAAGGCATTC 0.453000 70 102 0 0 0.014410 0 0 C11orf63 79864 broad.mit.edu 37 11 122805201 122805201 + Missense_Mutation SNP T T C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr11:122805201T>C ENST00000227349.2 + 5 1349 c.1052T>C c.(1051-1053)aTg>aCg p.M351T C11orf63_ENST00000531316.1_Missense_Mutation_p.M351T NM_024806.2 NP_079082.2 Q6NUN7 CK063_HUMAN chromosome 11 open reading frame 63 351 p.M351T(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) CCTTCTGACATGGTGAATGAC 0.418000 3 36 0 0 0.004672 0 0 UGT8 7368 broad.mit.edu 37 4 115544374 115544374 + Missense_Mutation SNP A A T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr4:115544374A>T ENST00000310836.6 + 2 860 c.338A>T c.(337-339)aAc>aTc p.N113I UGT8_ENST00000394511.3_Missense_Mutation_p.N113I NM_001128174.1 NP_001121646.1 Q16880 CGT_HUMAN UDP glycosyltransferase 8 113 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) TATACTAAGAACTGTGACCTG 0.448000 4 157 0 0 0.009096 0 0 RNF135 84282 broad.mit.edu 37 17 29325909 29325909 + Silent SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr17:29325909G>A ENST00000328381.5 + 5 1872 c.999G>A c.(997-999)gaG>gaA p.E333E RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000443677.2_3'UTR NM_032322.3 NP_115698.3 Q8IUD6 RN135_HUMAN ring finger protein 135 333 B30.2/SPRY. innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response cytosol protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding p.E333E(1)|p.?(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1) 10 all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255) CTTCCTGGGAGATGAGCCGCG 0.557000 12 50 0 0 0.001855 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45885837 45885837 + Nonsense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr19:45885837C>T ENST00000418234.2 - 12 2474 c.2396G>A c.(2395-2397)tGg>tAg p.W799* PPP1R13L_ENST00000360957.5_Nonsense_Mutation_p.W799* NM_001142502.1 NP_001135974.1 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 like 799 SH3. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding p.W799*(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) CGCGGCCCACCACCAGTCGGT 0.697000 18 72 0 0 0.003330 0 0 CFHR5 81494 broad.mit.edu 37 1 196977743 196977743 + Missense_Mutation SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:196977743C>A ENST00000367414.5 + 10 1768 c.1712C>A c.(1711-1713)gCg>gAg p.A571E CFHR5_ENST00000256785.4_Missense_Mutation_p.A547E NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 547 complement activation, alternative pathway extracellular region p.A547E(1) NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 CCACATAAAGCGATGATATCA 0.343000 11 142 1.61879e-10 1.99618e-10 0.013537 1 0 GDI1 2664 broad.mit.edu 37 X 153668809 153668809 + Missense_Mutation SNP A A T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chrX:153668809A>T ENST00000447750.2 + 6 1010 c.675A>T c.(673-675)ttA>ttT p.L225F NM_001493.2 NP_001484.1 P31150 GDIA_HUMAN GDP dissociation inhibitor 1 225 protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|midbody GTPase activator activity|protein binding p.L225F(1) autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 16 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCCCATATTTATACCCGCTCT 0.567000 18 70 0 0 0.006122 0 0 DIS3 22894 broad.mit.edu 37 13 73333994 73333994 + Missense_Mutation SNP G G C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr13:73333994G>C ENST00000377767.4 - 21 2916 c.2816C>G c.(2815-2817)aCt>aGt p.T939S DIS3_ENST00000377780.4_Missense_Mutation_p.T909S|DIS3_ENST00000545453.1_Missense_Mutation_p.T777S NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 939 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding p.T939S(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) TGAAGTATCAGTAGGAATGCT 0.363000 Multiple Myeloma(4;0.011) 19 59 0 0 0.014323 0 0 MRPL18 29074 broad.mit.edu 37 6 160218467 160218467 + Nonsense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr6:160218467C>T ENST00000367034.4 + 3 510 c.388C>T c.(388-390)Cga>Tga p.R130* MRPL18_ENST00000480842.1_3'UTR NM_014161.3 NP_054880.2 Q9H0U6 RM18_HUMAN mitochondrial ribosomal protein L18 130 rRNA transport|translation mitochondrial ribosome 5S rRNA binding|structural constituent of ribosome p.R130*(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4) 11 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06) GAGTATAGGACGAGTGCTGGC 0.493000 20 74 0 0 0.003954 0 0 PRKCD 5580 broad.mit.edu 37 3 53222799 53222799 + Silent SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr3:53222799G>A ENST00000394729.2 + 15 1807 c.1479G>A c.(1477-1479)ggG>ggA p.G493G PRKCD_ENST00000330452.3_Silent_p.G493G NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 493 Protein kinase. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) CCGACTTTGGGATGTGCAAAG 0.587000 9 95 0 0 0.008291 0 0 MCMDC2 157777 broad.mit.edu 37 8 67796088 67796088 + Missense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr8:67796088C>T ENST00000422365.2 + 9 1103 c.932C>T c.(931-933)tCa>tTa p.S311L MCMDC2_ENST00000396592.3_Missense_Mutation_p.S311L|MCMDC2_ENST00000313616.5_Missense_Mutation_p.S311L|MCMDC2_ENST00000541540.1_Missense_Mutation_p.S248L|MCMDC2_ENST00000492775.1_Missense_Mutation_p.S311L NM_173518.4 NP_775789.3 Q4G0Z9 CH045_HUMAN minichromosome maintenance domain containing 2 311 DNA replication ATP binding|DNA binding p.S311L(2)|p.S306L(1) endometrium(2)|kidney(2)|lung(5) 9 ATCTTTGCATCACAAATTACC 0.433000 5 157 0 0 0.001168 0 0 ZNF630 57232 broad.mit.edu 37 X 47919181 47919181 + Missense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chrX:47919181G>T ENST00000276054.4 - 5 1212 c.278C>A c.(277-279)gCt>gAt p.A93D ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.A203D|ZNF630_ENST00000409324.3_Missense_Mutation_p.A217D Q2M218 ZN630_HUMAN zinc finger protein 630 217 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A217D(1) endometrium(1)|large_intestine(6)|lung(11)|ovary(1) 19 AGAACAGGAAGCATTATACTT 0.408000 8 104 0.000157383 0.000173813 0.003080 1 0 MTMR8 55613 broad.mit.edu 37 X 63488494 63488494 + Missense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chrX:63488494C>T ENST00000374852.3 - 14 2105 c.2038G>A c.(2038-2040)Ggg>Agg p.G680R MTMR8_ENST00000453546.1_Intron NM_017677.3 NP_060147.2 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 680 nuclear envelope protein tyrosine phosphatase activity p.0?(2)|p.G680R(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 CCCATGTCCCCAGAGAAACCC 0.537000 15 38 0 0 0.004007 0 0 GABRQ 55879 broad.mit.edu 37 X 151821213 151821213 + Silent SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chrX:151821213C>T ENST00000370306.2 + 9 1388 c.1368C>T c.(1366-1368)acC>acT p.T456T NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 456 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity p.T456T(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) TCCCCTCCACCTCAGAGCAGG 0.592000 5 127 0 0 0.000602 0 0 GABRD 2563 broad.mit.edu 37 1 1961436 1961436 + Silent SNP C C T rs75511732 TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:1961436C>T ENST00000378585.4 + 9 1157 c.1074C>T c.(1072-1074)aaC>aaT p.N358N NM_000815.4 NP_000806.2 O14764 GBRD_HUMAN gamma-aminobutyric acid (GABA) A receptor, delta 358 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.N358N(1) central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) ACGTGAGGAACGCCATTGTCC 0.687000 12 73 0 0 0.003163 0 0 ELF1 1997 broad.mit.edu 37 13 41507961 41507961 + Missense_Mutation SNP T T A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr13:41507961T>A ENST00000239882.3 - 9 1774 c.1460A>T c.(1459-1461)cAg>cTg p.Q487L ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.Q463L NM_172373.3 NP_758961.1 P32519 ELF1_HUMAN E74-like factor 1 (ets domain transcription factor) 487 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.Q487L(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367) all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072) CTTTTGTGACTGCAGCATGAC 0.478000 50 159 0 0 0.014410 0 0 IGKV1-27 28935 broad.mit.edu 37 2 89512978 89512978 + RNA SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr2:89512978G>T ENST00000498435.1 - 0 311 GATGGTGAGAGTGAAATCTGT 0.488000 18 124 0.000175454 0.000192712 0.010504 1 0 DNAH5 1767 broad.mit.edu 37 5 13776694 13776694 + Missense_Mutation SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr5:13776694C>A ENST00000265104.4 - 55 9331 c.9227G>T c.(9226-9228)aGt>aTt p.S3076I NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3076 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.S3076I(1) 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) TCGGACCCGACTCATGAAGTA 0.463000 Kartagener syndrome 31 129 5.90632e-09 7.06649e-09 0.012213 1 0 FAM213A 84293 broad.mit.edu 37 10 82180281 82180281 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr10:82180281G>A ENST00000372181.1 + 1 528 c.58G>A c.(58-60)Gga>Aga p.G20R FAM213A_ENST00000372187.5_Missense_Mutation_p.G20R|FAM213A_ENST00000372188.1_Missense_Mutation_p.G20R|FAM213A_ENST00000372185.1_Missense_Mutation_p.G9R NM_001243778.1|NM_001243782.1 NP_001230707.1|NP_001230711.1 Q9BRX8 CJ058_HUMAN family with sequence similarity 213, member A 20 extracellular region p.G20R(1) CATTGGTGCAGGAGCCCTGGG 0.547000 5 129 0 0 0.000602 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20506983 20506983 + Missense_Mutation SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr20:20506983C>A ENST00000202677.6 - 28 3748 c.3606G>T c.(3604-3606)caG>caT p.Q1202H NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 1202 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity p.Q1202H(2) endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 CGCAAGCTACCTGGGCCACGA 0.413000 3 17 0.00909568 0.0098292 0.009096 1 0 RPL4 6124 broad.mit.edu 37 15 66792408 66792408 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr15:66792408G>A ENST00000307961.6 - 9 1116 c.1024C>T c.(1024-1026)Cgc>Tgc p.R342C RPL4_ENST00000568588.1_Missense_Mutation_p.R248C NM_000968.3 NP_000959.2 P36578 RL4_HUMAN ribosomal protein L4 342 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome p.R342C(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1) 17 CTGGCCTGGCGAAGAATGGTG 0.473000 9 86 0 0 0.006214 0 0 CHRNA4 1137 broad.mit.edu 37 20 61990970 61990970 + Missense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr20:61990970C>T ENST00000370263.4 - 2 379 c.158G>A c.(157-159)cGa>cAa p.R53Q CHRNA4_ENST00000463705.1_Intron NM_000744.6|NM_001256573.1 NP_000735.1|NP_001243502.1 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 (neuronal) 53 B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity p.R53Q(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) GGCCACGGGTCGGGACCACTT 0.647000 22 95 0 0 0.004656 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36217939 36217939 + Missense_Mutation SNP G G C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr14:36217939G>C ENST00000258840.6 - 10 1493 c.1103C>G c.(1102-1104)tCc>tGc p.S368C RALGAPA1_ENST00000389698.3_Missense_Mutation_p.S368C|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S368C|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S368C|RALGAPA1_ENST00000554704.1_5'UTR Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 368 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity p.S368C(2) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GCTTGTATTGGAATGAGACTG 0.393000 78 55 0 0 0.014410 0 0 PKD1L1 168507 broad.mit.edu 37 7 47917203 47917203 + Missense_Mutation SNP C C G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr7:47917203C>G ENST00000289672.2 - 22 3597 c.3547G>C c.(3547-3549)Gct>Cct p.A1183P NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1183 REJ. cell-cell adhesion integral to membrane p.A1183P(1) 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 TACAGCTGAGCTTTACCCAGT 0.498000 7 86 0 0 0.001984 0 0 GSE1 23199 broad.mit.edu 37 16 85695049 85695049 + Silent SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr16:85695049G>T ENST00000253458.7 + 9 2114 c.1938G>T c.(1936-1938)ctG>ctT p.L646L GSE1_ENST00000405402.2_Silent_p.L542L|GSE1_ENST00000393243.1_Silent_p.L573L NM_014615.2 NP_055430.1 Gse1 coiled-coil protein p.L646L(1) CTGCCCCTCTGGACAAGTACC 0.706000 5 20 1.06961e-07 1.25726e-07 0.003080 1 0 MAPK8IP1 9479 broad.mit.edu 37 11 45926281 45926281 + Missense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr11:45926281C>T ENST00000395629.2 + 9 2089 c.1759C>T c.(1759-1761)Cgc>Tgc p.R587C MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.R597C Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting protein 1 597 PID. vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity p.R597C(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2) 24 GBM - Glioblastoma multiforme(35;0.231) TGCCACCACCCGCCGGCTCAC 0.612000 23 86 0 0 0.005443 0 0 CRTC2 200186 broad.mit.edu 37 1 153927404 153927404 + Missense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:153927404C>T ENST00000368633.1 - 3 444 c.317G>A c.(316-318)cGg>cAg p.R106Q CRTC2_ENST00000368630.3_Intron|CRTC2_ENST00000476883.1_5'UTR NM_181715.2 NP_859066.1 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 106 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding p.R106Q(1) NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 27 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TCGCTGCACCCGTTCCACCAG 0.567000 8 71 0 0 0.008291 0 0 ZNF536 9745 broad.mit.edu 37 19 30935455 30935455 + Missense_Mutation SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr19:30935455C>A ENST00000355537.3 + 2 1133 c.986C>A c.(985-987)gCc>gAc p.A329D NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 329 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.A329D(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GCCGAGTCGGCCCAGGGCCAG 0.652000 20 253 1.85244e-09 2.22958e-09 0.003330 1 0 MCF2 4168 broad.mit.edu 37 X 138708867 138708867 + Missense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chrX:138708867G>T ENST00000520602.1 - 8 952 c.667C>A c.(667-669)Ctg>Atg p.L223M MCF2_ENST00000536274.1_Missense_Mutation_p.L124M|MCF2_ENST00000370578.4_Missense_Mutation_p.L308M|MCF2_ENST00000519895.1_Missense_Mutation_p.L223M|MCF2_ENST00000338585.6_Missense_Mutation_p.L163M|MCF2_ENST00000414978.1_Missense_Mutation_p.L223M|MCF2_ENST00000370576.4_Missense_Mutation_p.L163M|MCF2_ENST00000370573.4_Missense_Mutation_p.L163M P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 163 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity p.L163M(3)|p.L223M(2) NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) GGCACTTCCAGATTTGTTAGC 0.383000 15 118 3.27435e-08 3.89435e-08 0.002450 1 0 ARHGEF40 55701 broad.mit.edu 37 14 21543035 21543035 + Missense_Mutation SNP G G C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr14:21543035G>C ENST00000298694.4 + 3 1273 c.1146G>C c.(1144-1146)aaG>aaC p.K382N ARHGEF40_ENST00000298693.3_Missense_Mutation_p.K382N Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 382 Gly-rich. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity p.K382N(1) large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 ACAGAAGAAAGAAGCGAGCTG 0.627000 16 77 0 0 0.006122 0 0 KMT2C 58508 broad.mit.edu 37 7 151927085 151927085 + Missense_Mutation SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr7:151927085C>A ENST00000355193.2 - 18 3117 c.2899G>T c.(2899-2901)Ggc>Tgc p.G967C KMT2C_ENST00000262189.6_Missense_Mutation_p.G967C lysine (K)-specific methyltransferase 2C p.G967C(2) GCTCCTTGGCCAAAACTGCCA 0.343000 10 350 2.61681e-11 3.28737e-11 0.002450 1 0 SHISA5 51246 broad.mit.edu 37 3 48510922 48510922 + Nonsense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr3:48510922G>A ENST00000296444.2 - 5 817 c.481C>T c.(481-483)Cag>Tag p.Q161* SHISA5_ENST00000443308.2_Nonsense_Mutation_p.Q154*|SHISA5_ENST00000444115.1_Nonsense_Mutation_p.Q130*|SHISA5_ENST00000465449.1_5'UTR|SHISA5_ENST00000426002.1_Nonsense_Mutation_p.Q58*|SHISA5_ENST00000442747.1_Nonsense_Mutation_p.Q130* NM_001272065.1|NM_016479.3 NP_001258994.1|NP_057563.3 Q8N114 SHSA5_HUMAN shisa family member 5 161 Pro-rich. apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|integral to membrane|nuclear membrane signal transducer activity|WW domain binding p.Q161*(1) large_intestine(1)|lung(1) 2 CTTGGAGGCTGAGGATAAGGG 0.602000 5 73 0 0 0.000602 0 0 NISCH 11188 broad.mit.edu 37 3 52492774 52492774 + Missense_Mutation SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr3:52492774C>A ENST00000345716.4 + 3 408 c.274C>A c.(274-276)Ctg>Atg p.L92M NISCH_ENST00000420808.2_Missense_Mutation_p.L92M|NISCH_ENST00000479054.1_Missense_Mutation_p.L92M|NISCH_ENST00000488380.1_Missense_Mutation_p.L92M NM_007184.3 NP_009115.2 Q9Y2I1 NISCH_HUMAN nischarin 92 Necessary for binding to phosphoinositide-3-P; not sufficient for targeting to endosomes.|PX. apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity p.L92M(1) NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) GGAGAAGGATCTGGAGGTCTA 0.483000 13 100 4.36969e-10 5.32308e-10 0.001855 1 0 EIF4B 1975 broad.mit.edu 37 12 53412608 53412608 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr12:53412608G>A ENST00000262056.9 + 3 504 c.178G>A c.(178-180)Gac>Aac p.D60N EIF4B_ENST00000416762.3_Missense_Mutation_p.D60N|EIF4B_ENST00000420463.3_Missense_Mutation_p.D60N|RP11-983P16.4_ENST00000552905.1_RNA|RP11-983P16.4_ENST00000549388.1_RNA|EIF4B_ENST00000551527.1_3'UTR NM_001417.4 NP_001408.2 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 60 insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity p.D60N(1) breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1) 22 CAGTAACGATGACGATGTGTA 0.493000 70 165 0 0 0.014410 0 0 DNAH11 8701 broad.mit.edu 37 7 21784217 21784217 + Splice_Site SNP A A T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr7:21784217A>T ENST00000328843.6 + 51 8368 c.8337_splice c.e51+1 p.E2779_splice DNAH11_ENST00000409508.3_Splice_Site_p.E2772_splice Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2779 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.E2779D(1) NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AATATTTTGAAGTAAGCGTAT 0.388000 Kartagener syndrome 11 92 0 0 0.008291 0 0 GLYATL1 92292 broad.mit.edu 37 11 58723260 58723260 + Missense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr11:58723260G>T ENST00000300079.5 + 7 812 c.762G>T c.(760-762)atG>atT p.M254I RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Missense_Mutation_p.M223I NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 223 mitochondrion glycine N-acyltransferase activity p.M254I(1)|p.M223I(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) GGGTAACCATGGACCCTTCTT 0.522000 13 39 1.61879e-10 1.99618e-10 0.013537 1 0 SALL1 6299 broad.mit.edu 37 16 51175382 51175382 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr16:51175382G>A ENST00000440970.1 - 2 891 c.460C>T c.(460-462)Cgt>Tgt p.R154C SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.R251C NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 251 Poly-Ser. adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R251C(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ATTTGGTGACGAATCTGTTCG 0.532000 10 149 0 0 0.010729 0 0 SEMA3D 223117 broad.mit.edu 37 7 84702345 84702345 + Missense_Mutation SNP A A C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr7:84702345A>C ENST00000284136.6 - 4 471 c.428T>G c.(427-429)aTa>aGa p.I143R SEMA3D_ENST00000444867.1_Missense_Mutation_p.I143R NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 143 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity p.I143R(1) NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 ACACACATATATGTGAGTTTT 0.343000 18 63 0 0 0.008871 0 0 DPAGT1 1798 broad.mit.edu 37 11 118971518 118971518 + Silent SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr11:118971518G>A ENST00000409993.2 - 5 1869 c.318C>T c.(316-318)tgC>tgT p.C106C DPAGT1_ENST00000432443.2_5'UTR|DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000354202.4_Silent_p.C106C Q9H3H5 GPT_HUMAN dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 106 dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization integral to endoplasmic reticulum membrane|microsome phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity p.C106C(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 17 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) AGATCATGCAGCAGATGGCAA 0.557000 OREG0021396 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 52 0 0 0.002450 0 0 SFMBT2 57713 broad.mit.edu 37 10 7262456 7262456 + Missense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr10:7262456G>T ENST00000361972.4 - 11 1337 c.1247C>A c.(1246-1248)gCt>gAt p.A416D SFMBT2_ENST00000397167.1_Missense_Mutation_p.A416D NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 416 regulation of transcription, DNA-dependent nucleus p.A416D(1) NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 GGGGTTCACAGCTTCAAGTTT 0.532000 102 74 8.32725e-61 1.16235e-60 0.014410 1 0 C16orf62 57020 broad.mit.edu 37 16 19702685 19702685 + Silent SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr16:19702685C>T ENST00000438132.3 + 29 2853 c.2805C>T c.(2803-2805)aaC>aaT p.N935N C16orf62_ENST00000251143.5_Silent_p.N846N|C16orf62_ENST00000543152.1_Silent_p.N595N|C16orf62_ENST00000417362.2_Silent_p.N753N|C16orf62_ENST00000542263.1_Silent_p.N842N|C16orf62_ENST00000448695.1_Silent_p.N696N NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 846 integral to membrane p.N935N(1)|p.N846N(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 TGGACTCCAACGACAGCCTCT 0.562000 9 41 0 0 0.006214 0 0 PPP6R2 9701 broad.mit.edu 37 22 50875986 50875986 + Missense_Mutation SNP T T G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr22:50875986T>G ENST00000359139.3 + 15 2048 c.1654T>G c.(1654-1656)Ttt>Gtt p.F552V PPP6R2_ENST00000395744.3_Missense_Mutation_p.F552V|PPP6R2_ENST00000395741.3_Missense_Mutation_p.F553V|PPP6R2_ENST00000216061.5_Missense_Mutation_p.F579V NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 579 cytoplasm|intracellular membrane-bounded organelle protein binding p.F552V(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 CGTGGATCAGTTTGGCTTCAA 0.587000 10 24 0 0 0.001855 0 0 MYCBP2 23077 broad.mit.edu 37 13 77755944 77755944 + Silent SNP A A G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr13:77755944A>G ENST00000407578.2 - 33 5099 c.4833T>C c.(4831-4833)gaT>gaC p.D1611D MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Silent_p.D1573D|MYCBP2_ENST00000357337.6_Silent_p.D1573D NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 1573 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding p.D1573D(2)|p.D1611D(1) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) ATACTTCTCCATCATACGCAA 0.423000 37 85 0 0 0.004289 0 0 TRGV8 6982 broad.mit.edu 37 7 38370452 38370452 + RNA SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr7:38370452G>A ENST00000390343.2 - 0 84 TGGAAGTAAGGGACCAGACGA 0.532000 24 97 0 0 0.003330 0 0 CYBB 1536 broad.mit.edu 37 X 37651312 37651312 + Splice_Site SNP G G C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chrX:37651312G>C ENST00000378588.4 + 4 404 c.337_splice c.e4+1 p.A113_splice CYBB_ENST00000545017.1_Splice_Site_p.A81_splice|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_5'UTR NM_000397.3 NP_000388.2 P04839 CY24B_HUMAN cytochrome b-245, beta polypeptide 113 Ferric oxidoreductase. electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity p.A113P(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2) 32 ACTTCACTCTGGTAAGTTTAT 0.388000 10 56 0 0 0.010729 0 0 LDB2 9079 broad.mit.edu 37 4 16760880 16760880 + Missense_Mutation SNP T T G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr4:16760880T>G ENST00000502640.1 - 2 284 c.136A>C c.(136-138)Agt>Cgt p.S46R LDB2_ENST00000441778.2_Missense_Mutation_p.S46R|LDB2_ENST00000515064.1_Missense_Mutation_p.S46R|LDB2_ENST00000304523.5_Missense_Mutation_p.S46R O43679 LDB2_HUMAN LIM domain binding 2 46 LIM domain binding|transcription cofactor activity p.S46R(2) breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 AGGTTGTCACTATCCTGCAAA 0.413000 4 134 0 0 0.001168 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 105011610 105011610 + Missense_Mutation SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chrX:105011610C>A ENST00000372582.1 + 11 2773 c.2017C>A c.(2017-2019)Cct>Act p.P673T IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.P673T|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.P278T NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 673 central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity p.P673T(1) breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TTCTTTGCTGCCTTTATCCTC 0.403000 17 121 8.00594e-06 9.09149e-06 0.007413 1 0 ATP8A2 51761 broad.mit.edu 37 13 26343230 26343230 + Silent SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr13:26343230C>A ENST00000381655.2 + 26 2573 c.2431C>A c.(2431-2433)Cgg>Agg p.R811R ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Silent_p.R771R NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 771 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.R811R(1) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) GGTGAAGAAGCGGGTGAAGGC 0.537000 28 49 2.65835e-16 3.56218e-16 0.007291 1 0 BAG6 7917 broad.mit.edu 37 6 31612875 31612875 + Missense_Mutation SNP G G C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr6:31612875G>C ENST00000404765.2 - 10 1506 c.1217C>G c.(1216-1218)tCc>tGc p.S406C BAG6_ENST00000439687.2_Missense_Mutation_p.S406C|BAG6_ENST00000375976.4_Missense_Mutation_p.S406C|BAG6_ENST00000375964.6_Missense_Mutation_p.S412C|BAG6_ENST00000362049.6_Missense_Mutation_p.S406C|BAG6_ENST00000211379.5_Missense_Mutation_p.S406C P46379 BAG6_HUMAN BCL2-associated athanogene 6 412 4 X 29 AA approximate repeats.|Pro-rich. apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding p.S406C(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 CGGAGCCACGGATGAGGCCTG 0.657000 17 144 0 0 0.008871 0 0 KRTAP9-4 85280 broad.mit.edu 37 17 39406130 39406130 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr17:39406130G>A ENST00000334109.2 + 1 192 c.158G>A c.(157-159)cGc>cAc p.R53H NM_033191.2 NP_149461.2 Q9BYQ2 KRA94_HUMAN keratin associated protein 9-4 53 15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF]. keratin filament p.R53H(4) breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CCTTGCTGCCGCCCAACTTGC 0.642000 4 106 0 0 0.000602 0 0 TRAF6 7189 broad.mit.edu 37 11 36520069 36520069 + Silent SNP A A G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr11:36520069A>G ENST00000526995.1 - 3 664 c.418T>C c.(418-420)Ttg>Ctg p.L140L TRAF6_ENST00000348124.5_Silent_p.L140L NM_004620.3 NP_004611.1 Q9Y4K3 TRAF6_HUMAN TNF receptor-associated factor 6, E3 ubiquitin protein ligase 140 Interaction with TAX1BP1. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|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 CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding p.L140L(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1) 27 all_lung(20;0.211) all_hematologic(20;0.107) ATCTTGTGCAAACAACCTTCA 0.363000 40 130 0 0 0.014410 0 0 RSPO1 284654 broad.mit.edu 37 1 38082223 38082223 + Silent SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:38082223G>A ENST00000356545.2 - 5 1006 c.219C>T c.(217-219)ggC>ggT p.G73G RSPO1_ENST00000401071.2_Silent_p.G73G|RSPO1_ENST00000373059.1_Silent_p.G46G|RSPO1_ENST00000401068.1_Silent_p.G73G|RSPO1_ENST00000401069.1_Silent_p.G73G|RSPO1_ENST00000401070.1_Silent_p.G73G NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 73 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding p.G73G(1)|p.P305L(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GCAAGCAGACGCCCACCTGGC 0.622000 16 151 0 0 0.006122 0 0 CSTB 1476 broad.mit.edu 37 21 45194608 45194608 + Missense_Mutation SNP C C G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr21:45194608C>G ENST00000291568.5 - 2 274 c.99G>C c.(97-99)aaG>aaC p.K33N NM_000100.3 NP_000091.1 P04080 CYTB_HUMAN cystatin B (stefin B) 33 cytoplasm|nucleolus cysteine-type endopeptidase inhibitor activity|protease binding p.K33N(1) lung(1)|prostate(1) 2 STAD - Stomach adenocarcinoma(101;0.168) CAGGGAACTTCTTGTTTTCTT 0.522000 4 184 0 0 0.001168 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85450634 85450634 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr12:85450634G>A ENST00000393217.2 + 8 2124 c.2063G>A c.(2062-2064)aGt>aAt p.S688N NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 688 p.S688N(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) GAGGGCTTGAGTAACTATAAT 0.338000 28 108 0 0 0.006320 0 0 TUBA1C 84790 broad.mit.edu 37 12 49666727 49666727 + Missense_Mutation SNP A A G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr12:49666727A>G ENST00000301072.6 + 4 1342 c.1067A>G c.(1066-1068)aAt>aGt p.N356S TUBA1C_ENST00000541364.1_Missense_Mutation_p.N426S|RP11-161H23.5_ENST00000550468.2_RNA NM_032704.3 NP_116093.1 Q9BQE3 TBA1C_HUMAN tubulin, alpha 1c 356 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity p.N356S(1) endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1) 13 GTTGGCATTAATTACCAGCCT 0.552000 8 76 0 0 0.004482 0 0 CCDC87 55231 broad.mit.edu 37 11 66359594 66359594 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr11:66359594G>A ENST00000333861.3 - 1 960 c.893C>T c.(892-894)tCc>tTc p.S298F NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 298 p.S298F(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 AGGCGAGGGGGAAGCCCTGCT 0.617000 37 133 0 0 0.004878 0 0 MBTPS2 51360 broad.mit.edu 37 X 21861374 21861374 + Silent SNP T T A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chrX:21861374T>A ENST00000365779.2 + 2 243 c.162T>A c.(160-162)acT>acA p.T54T MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Silent_p.T54T O43462 MBTP2_HUMAN membrane-bound transcription factor peptidase, site 2 54 cholesterol metabolic process|proteolysis Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity p.T54T(1) breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 GATGGCAAACTGCTGTTTTCA 0.403000 39 215 0 0 0.005524 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261731 39261731 + Missense_Mutation SNP G G C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr17:39261731G>C ENST00000391415.1 + 1 148 c.91G>C c.(91-93)Gag>Cag p.E31Q NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 31 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament p.E31Q(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 CAGCTGCTGTGAGACCACCTG 0.637000 3 69 0 0 0.004672 0 0 SBSN 374897 broad.mit.edu 37 19 36018821 36018821 + Silent SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr19:36018821G>A ENST00000452271.2 - 1 391 c.363C>T c.(361-363)aaC>aaT p.N121N SBSN_ENST00000518157.1_Silent_p.N121N NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 121 Ala/Gly/His-rich. extracellular region p.N121N(2) large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GTCCAGCAGCGTTGTTGACCC 0.572000 7 313 0 0 0.001984 0 0 LRRC40 55631 broad.mit.edu 37 1 70625094 70625094 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:70625094G>A ENST00000370952.3 - 10 1218 c.1139C>T c.(1138-1140)gCt>gTt p.A380V NM_017768.4 NP_060238.3 Q9H9A6 LRC40_HUMAN leucine rich repeat containing 40 380 p.A380I(1) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2) 27 AGTCTCAGTAGCAGACTCACT 0.303000 5 38 0 0 0.001168 0 0 NUMA1 4926 broad.mit.edu 37 11 71719881 71719881 + Missense_Mutation SNP G G C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr11:71719881G>C ENST00000393695.3 - 20 5400 c.5069C>G c.(5068-5070)gCa>gGa p.A1690G NUMA1_ENST00000358965.6_Missense_Mutation_p.A1676G|NUMA1_ENST00000351960.6_Missense_Mutation_p.A554G NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1690 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity p.A1690G(1) central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 CTGCTGGTCTGCATGGGCAAC 0.577000 T RARA APL 13 161 0 0 0.004007 0 0 FCRL3 115352 broad.mit.edu 37 1 157666998 157666998 + Nonsense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:157666998C>T ENST00000368184.3 - 6 1067 c.776G>A c.(775-777)tGg>tAg p.W259* FCRL3_ENST00000368186.5_Nonsense_Mutation_p.W259*|FCRL3_ENST00000473231.1_5'UTR NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 259 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity p.W259*(1) autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) CACCTCACACCAGTAAGACCC 0.537000 21 130 0 0 0.014323 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48918350 48918350 + Silent SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr17:48918350C>T ENST00000311378.4 + 2 2229 c.1701C>T c.(1699-1701)gaC>gaT p.D567D WFIKKN2_ENST00000426127.1_Silent_p.D474D|RP11-506D12.5_ENST00000572491.2_RNA NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 567 extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity p.D567D(1) 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) AGACCTGTGACGTCCTCAAGG 0.622000 5 58 0 0 0.003080 0 0 CCDC28B 79140 broad.mit.edu 37 1 32667694 32667694 + Missense_Mutation SNP T T C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:32667694T>C ENST00000421922.2 + 2 258 c.158T>C c.(157-159)tTc>tCc p.F53S CCDC28B_ENST00000373602.5_Missense_Mutation_p.F53S|CCDC28B_ENST00000483009.1_3'UTR Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 53 p.F53S(1) large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) CGGGCCAAGTTCAAGAGGTGG 0.612000 10 47 0 0 0.006214 0 0 RIMS2 9699 broad.mit.edu 37 8 105263321 105263321 + Missense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr8:105263321G>T ENST00000507740.1 + 21 3439 c.3203G>T c.(3202-3204)aGa>aTa p.R1068I RIMS2_ENST00000339750.2_Missense_Mutation_p.R190I|RIMS2_ENST00000262231.10_Missense_Mutation_p.R1093I|RIMS2_ENST00000436393.2_Missense_Mutation_p.R1272I|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1254I NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1316 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding p.R1068I(2)|p.R1254I(1)|p.R1272I(1) NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AAAGTGGCAAGAAAAACGCTG 0.388000 HNSCC(12;0.0054) 54 13 7.34454e-26 9.97469e-26 0.014410 1 0 ZNF831 128611 broad.mit.edu 37 20 57768042 57768042 + Silent SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr20:57768042G>T ENST00000371030.2 + 1 1968 c.1968G>T c.(1966-1968)ctG>ctT p.L656L NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 656 intracellular nucleic acid binding|zinc ion binding p.L656L(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GGGCAGAACTGGGCTTTCCTC 0.582000 14 121 0.000151284 0.000168934 0.001855 1 0 POLR2M 81488 broad.mit.edu 37 15 58001463 58001463 + Missense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr15:58001463C>T ENST00000299638.3 + 2 879 c.665C>T c.(664-666)tCc>tTc p.S222F POLR2M_ENST00000380557.4_Missense_Mutation_p.S65F|POLR2M_ENST00000380563.2_Missense_Mutation_p.S222F|GCOM1_ENST00000380568.3_Intron|GCOM1_ENST00000484300.1_3'UTR|GCOM1_ENST00000380569.2_Intron|GCOM1_ENST00000587652.1_Missense_Mutation_p.S619F|POLR2M_ENST00000464308.1_3'UTR NM_015532.3 NP_056347.1 polymerase (RNA) II (DNA directed) polypeptide M p.S222F(1) ACAGGCCTTTCCAGTGGGACT 0.443000 12 56 0 0 0.001855 0 0 TLR6 10333 broad.mit.edu 37 4 38829252 38829252 + Missense_Mutation SNP G G C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr4:38829252G>C ENST00000436693.2 - 2 1962 c.1843C>G c.(1843-1845)Ctc>Gtc p.L615V TLR6_ENST00000381950.1_Missense_Mutation_p.L615V NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 615 activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity p.L615V(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ACCATCCTGAGATACCAGGGC 0.517000 24 186 0 0 0.003330 0 0 LOC440040 440040 broad.mit.edu 37 11 49831543 49831543 + RNA SNP A A C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr11:49831543A>C ENST00000527477.1 + 0 1768 CAGAATGGCAATATATATGGA 0.458000 32 19 0 0 0.008740 0 0 OBFC1 79991 broad.mit.edu 37 10 105657388 105657388 + Missense_Mutation SNP A A C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr10:105657388A>C ENST00000224950.3 - 7 838 c.671T>G c.(670-672)tTt>tGt p.F224C OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Missense_Mutation_p.F224C NM_024928.4 NP_079204.2 Q9H668 STN1_HUMAN oligonucleotide/oligosaccharide-binding fold containing 1 224 positive regulation of DNA replication|telomere maintenance via telomere lengthening protein binding|single-stranded telomeric DNA binding p.F224C(1) large_intestine(3)|lung(7)|ovary(1)|pancreas(2) 13 Colorectal(252;0.178) Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151) CTGCTGGTAAAAGCTCTGCAC 0.547000 73 36 0 0 0.014410 0 0 DNTTIP2 30836 broad.mit.edu 37 1 94342445 94342445 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:94342445G>A ENST00000436063.2 - 2 1103 c.1046C>T c.(1045-1047)tCa>tTa p.S349L DNTTIP2_ENST00000460191.1_5'UTR NM_014597.4 NP_055412.2 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, interacting protein 2 349 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.S349L(1) NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 38 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) AGAGTGCACTGATACAGCATT 0.393000 14 86 0 0 0.002450 0 0 LCE3C 353144 broad.mit.edu 37 1 152573217 152573217 + Missense_Mutation SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:152573217C>A ENST00000333881.3 + 1 80 c.10C>A c.(10-12)Cag>Aag p.Q4K NM_178434.2 NP_848521.1 Q5T5A8 LCE3C_HUMAN late cornified envelope 3C 4 keratinization p.Q4K(1) lung(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367) GATGTCCTGCCAGCAAAACCA 0.507000 55 641 1.95512e-22 2.63744e-22 0.014410 1 0 SCGN 10590 broad.mit.edu 37 6 25665258 25665258 + Missense_Mutation SNP C C G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr6:25665258C>G ENST00000377961.2 + 4 502 c.334C>G c.(334-336)Cag>Gag p.Q112E SCGN_ENST00000334979.6_3'UTR NM_006998.3 NP_008929.2 O76038 SEGN_HUMAN secretagogin, EF-hand calcium binding protein 112 EF-hand 3. extracellular region|transport vesicle membrane calcium ion binding p.Q112E(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 GGAGTTTATGCAGGTGAGTGC 0.512000 11 80 0 0 0.008291 0 0 PCDHA7 56141 broad.mit.edu 37 5 140214302 140214302 + Missense_Mutation SNP A A T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr5:140214302A>T ENST00000525929.1 + 1 334 c.334A>T c.(334-336)Agg>Tgg p.R112W PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R112W NM_018910.2 NP_061733.1 p.R112W(2) NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATCGTGGAAAGGCCGCTGCA 0.562000 36 363 0 0 0.009718 0 0 NUBPL 80224 broad.mit.edu 37 14 32030658 32030658 + Nonsense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr14:32030658C>T ENST00000281081.7 + 1 58 c.13C>T c.(13-15)Cag>Tag p.Q5* NM_001201573.1|NM_001201574.1|NM_025152.2 NP_001188502.1|NP_001188503.1|NP_079428.2 Q8TB37 NUBPL_HUMAN nucleotide binding protein-like 5 mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis mitochondrion 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding p.Q5*(1) endometrium(1)|lung(2)|prostate(1)|skin(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0102) GGGGATTTGGCAGCGTCTGCT 0.667000 3 22 0 0 0.003080 0 0 LOC645752 645752 broad.mit.edu 37 15 78211648 78211648 + RNA SNP A A G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr15:78211648A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CGCCAGGGATAGGGGCTCAGC 0.522000 3 63 0 0 0.004672 0 0 PNISR 25957 broad.mit.edu 37 6 99848691 99848691 + Nonsense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr6:99848691G>A ENST00000369239.5 - 12 2347 c.2143C>T c.(2143-2145)Cga>Tga p.R715* PNISR_ENST00000438806.1_Nonsense_Mutation_p.R715* NM_032870.2 NP_116259.2 Q8TF01 PNISR_HUMAN PNN-interacting serine/arginine-rich protein 715 nuclear speck p.R715*(1) breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 TCACTTTCTCGTTTCCTTTTT 0.318000 6 59 0 0 0.001984 0 0 CDK12 51755 broad.mit.edu 37 17 37627359 37627359 + Missense_Mutation SNP T T C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr17:37627359T>C ENST00000447079.4 + 2 1307 c.1274T>C c.(1273-1275)gTa>gCa p.V425A CDK12_ENST00000430627.2_Missense_Mutation_p.V425A NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 425 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity p.V425A(1) NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 GGTTCACCTGTATTTTTGCCT 0.438000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 23 124 0 0 0.014323 0 0 MGAT2 4247 broad.mit.edu 37 14 50088220 50088220 + Silent SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr14:50088220G>T ENST00000305386.2 + 1 732 c.234G>T c.(232-234)gcG>gcT p.A78A RP11-649E7.5_ENST00000555043.1_RNA NM_002408.3 NP_002399.1 Q10469 MGAT2_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 78 oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|Golgi stack|integral to membrane|membrane fraction alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity p.A78A(1) cervix(1)|endometrium(3)|large_intestine(1)|lung(6) 11 all_epithelial(31;0.0021)|Breast(41;0.0124) TGGTCCCGGCGGTCCCCCAGC 0.682000 11 30 3.41278e-10 4.18274e-10 0.004990 1 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 4 118 0 0 0.000602 0 0 EPHA6 285220 broad.mit.edu 37 3 96706597 96706597 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr3:96706597G>A ENST00000389672.5 + 3 912 c.874G>A c.(874-876)Gtt>Att p.V292I EPHA6_ENST00000542517.1_Missense_Mutation_p.V198I|EPHA6_ENST00000470610.2_Missense_Mutation_p.V292I NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 197 integral to plasma membrane ATP binding|ephrin receptor activity p.V198I(2)|p.V292I(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 CATTGCCCTGGTTTCAGTCCG 0.458000 23 247 0 0 0.003954 0 0 TAGAP 117289 broad.mit.edu 37 6 159464670 159464670 + Missense_Mutation SNP A A T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr6:159464670A>T ENST00000367066.3 - 4 430 c.99T>A c.(97-99)caT>caA p.H33Q TAGAP_ENST00000338313.5_Missense_Mutation_p.H33Q|TAGAP_ENST00000326965.6_5'UTR|RP1-111C20.4_ENST00000606470.1_RNA NM_054114.3 NP_473455.2 Q8N103 TAGAP_HUMAN T-cell activation RhoGTPase activating protein 33 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity p.H33Q(1) NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CCAACAGGGGATGTTCCTTGA 0.373000 9 339 0 0 0.004482 0 0 EME2 197342 broad.mit.edu 37 16 1825152 1825152 + Nonsense_Mutation SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr16:1825152C>A ENST00000307394.7 + 4 588 c.588C>A c.(586-588)tgC>tgA p.C196* EME2_ENST00000568449.1_Intron A4GXA9 EME2_HUMAN essential meiotic structure-specific endonuclease subunit 2 190 DNA recombination|DNA repair nucleus DNA binding|endonuclease activity p.C196*(1) central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1) 9 CACTCTCATGCCCACAGCAGG 0.667000 Direct reversal of damage;Homologous recombination 17 131 3.51602e-12 4.47291e-12 0.008871 1 0 GPR156 165829 broad.mit.edu 37 3 119886215 119886215 + Silent SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr3:119886215G>A ENST00000464295.1 - 10 2554 c.2109C>T c.(2107-2109)ggC>ggT p.G703G GPR156_ENST00000461057.1_Silent_p.G699G|GPR156_ENST00000315843.3_Silent_p.G703G Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 703 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity p.G703G(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) TTGGGGCCCGGCCAGAACCAG 0.637000 4 107 0 0 0.009096 0 0 OR2B11 127623 broad.mit.edu 37 1 247614375 247614375 + Frame_Shift_Del DEL C C - TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:247614375delC ENST00000318749.6 - 1 933 c.910delG c.(910-912)ctfs p.A304fs NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CTCCTCAGAGCCCCCTTCATA 0.458 9 763 --- --- --- --- HIST1H4B 8366 broad.mit.edu 37 6 26027259 26027267 + In_Frame_Del DEL CGTGTAGGT CGTGTAGGT - rs139832518 byFrequency TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr6:26027259_26027267delCGTGTAGGT ENST00000377364.3 - 1 213_221 c.214_222delACCTACACG c.(214-222)del p.TYT72del NM_003544.2 NP_003535.1 P62805 H4_HUMAN histone cluster 1, H4b 72 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 13 TGGCGTGCTCCGTGTAGGTCACGGCGTCC 0.550 OREG0017238 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 120 --- --- --- --- EGFR 1956 broad.mit.edu 37 7 55242465 55242479 + In_Frame_Del DEL GGAATTAAGAGAAGC GGAATTAAGAGAAGC - rs121913438 TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr7:55242465_55242479delGGAATTAAGAGAAGC ENST00000275493.2 + 19 2412_2426 c.2235_2249delGGAATTAAGAGAAGC c.(2233-2250)aaa>aa p.KELREA745del EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_In_Frame_Del_p.KELREA692del|EGFR_ENST00000455089.1_In_Frame_Del_p.KELREA700del NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 745 Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.K745_E746insIPVAIK(5)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.A750_K754del(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.E749G(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.A750_E758del(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_E746insTPVAIK(1)|p.K745_A750del(1)|p.R748K(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TCGCTATCAAGGAATTAAGAGAAGCAACATCTCCG 0.479 E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG) 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 31 85 --- --- --- --- KDM7A 80853 broad.mit.edu 37 7 139838949 139838949 + Frame_Shift_Del DEL A A - TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr7:139838949delA ENST00000397560.2 - 2 333 c.236delT c.(235-237)cgfs p.L79fs JHDM1D_ENST00000006967.5_Frame_Shift_Del_p.L79fs NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 79 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) ACAGTGATACAGGTCAATGTC 0.353 7 209 --- --- --- --- ACO1 48 broad.mit.edu 37 9 32424665 32424666 + Splice_Site INS - - AG TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr9:32424665_32424666insAG ENST00000379923.1 + 11 1394 c.e11+2 ACO1_ENST00000309951.5_Splice_Site|ACO1_ENST00000541043.1_Splice_Site NM_001278352.1 NP_001265281.1 P21399 ACOC_HUMAN aconitase 1, soluble citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 30 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) GGAGCCAAGGTAGGGGCCTGCG 0.515 26 106 --- --- --- --- AGPAT2 10555 broad.mit.edu 37 9 139571073 139571073 + Frame_Shift_Del DEL A A - TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr9:139571073delA ENST00000371696.2 - 4 617 c.552delT c.(550-552)ttfs p.F184fs AGPAT2_ENST00000538402.1_Frame_Shift_Del_p.F184fs|AGPAT2_ENST00000371694.3_Intron NM_006412.3 NP_006403.2 O15120 PLCB_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 2 184 phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity endometrium(1)|large_intestine(1)|lung(2)|prostate(2) 6 all_cancers(76;0.0893)|all_epithelial(76;0.231) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123) CGCCCTTCTTAAAAGGCAGCA 0.632 26 102 --- --- --- --- NLRP14 338323 broad.mit.edu 37 11 7079029 7079029 + Frame_Shift_Del DEL C C - TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr11:7079029delC ENST00000299481.4 + 7 2759 c.2413delC c.(2413-2415)ttfs p.L806fs NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 806 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TGGAGTGCAGCTTTTGTGTGA 0.383 24 210 --- --- --- --- GCN1L1 10985 broad.mit.edu 37 12 120580382 120580383 + Frame_Shift_Ins INS - - C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr12:120580382_120580383insC ENST00000300648.6 - 44 5769_5770 c.5757_5758insG c.(5755-5760)ttgtgafs p.*1920fs NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1920 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) AGGATCTCACGCAAGGTGCGGG 0.589 22 77 --- --- --- --- HNRNPC 3183 broad.mit.edu 37 14 21681149 21681161 + Frame_Shift_Del DEL CACTCTTAGAATT CACTCTTAGAATT - TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr14:21681149_21681161delCACTCTTAGAATT ENST00000430246.2 - 5 3432_3444 c.481_493delAATTCTAAGAGTG c.(481-495)gafs p.NSKSG161fs HNRNPC_ENST00000420743.2_Frame_Shift_Del_p.NSKSG174fs|HNRNPC_ENST00000336053.6_Frame_Shift_Del_p.NSKSG161fs|HNRNPC_ENST00000553753.1_Frame_Shift_Del_p.NSKSG161fs|HNRNPC_ENST00000553300.1_Frame_Shift_Del_p.NSKSG161fs|HNRNPC_ENST00000555309.1_Frame_Shift_Del_p.NSKSG174fs|HNRNPC_ENST00000320084.7_Frame_Shift_Del_p.NSKSG174fs|HNRNPC_ENST00000554969.1_Frame_Shift_Del_p.NSKSG161fs|HNRNPC_ENST00000557201.1_Frame_Shift_Del_p.NSKSG174fs|HNRNPC_ENST00000556897.1_Frame_Shift_Del_p.NSKSG161fs|HNRNPC_ENST00000556628.1_Frame_Shift_Del_p.NSKSG94fs|HNRNPC_ENST00000554455.1_Frame_Shift_Del_p.NSKSG174fs|HNRNPC_ENST00000556513.1_Frame_Shift_Del_p.NSKSG174fs|HNRNPC_ENST00000556142.1_Frame_Shift_Del_p.NSKSG174fs|HNRNPC_ENST00000555883.1_Intron|HNRNPC_ENST00000449098.1_Frame_Shift_Del_p.NSKSG161fs|HNRNPC_ENST00000555914.1_Frame_Shift_Del_p.NSKSG161fs P07910 HNRPC_HUMAN heterogeneous nuclear ribonucleoprotein C (C1/C2) 174 catalytic step 2 spliceosome|nucleoplasm identical protein binding|nucleotide binding|RNA binding p.K176N(1) breast(1)|liver(1)|lung(6)|skin(1) 9 all_cancers(95;0.00176) Epithelial(56;1.08e-06)|all cancers(55;8.95e-06) GBM - Glioblastoma multiforme(265;0.00783) CCCCGCTGTCCACTCTTAGAATTGAAGCCACTT 0.455 10 176 --- --- --- --- NPHS1 4868 broad.mit.edu 37 19 36333449 36333451 + Splice_Site DEL CTC CTC - TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr19:36333449_36333451delCTC ENST00000378910.5 - 18 2335_2337 c.2334_splice c.e18-1 p.GE779_splice NPHS1_ENST00000353632.6_Splice_Site_p.GE779_splice NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 779 Ig-like C2-type 7. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCCTCATCTTCTCCCTGGAGGCC 0.581 20 133 --- --- --- --- SRPX 8406 broad.mit.edu 37 X 38079976 38079978 + In_Frame_Del DEL GCA GCA - rs72445954 TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chrX:38079976_38079978delGCA ENST00000378533.3 - 1 174_176 c.68_70delTGC c.(67-72)cgc>c p.LR23del SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|SRPX_ENST00000343800.6_Intron|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del NM_006307.4 NP_006298.1 P78539 SRPX_HUMAN sushi-repeat containing protein, X-linked 23 Missing. cell adhesion cell surface|membrane p.L23delL(2) autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 GGCGGGACGCgcagcagcagcag 0.729 OREG0019726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- KANTR 102723508 broad.mit.edu 37 X 53142506 53142507 + RNA INS - - A rs146094031 TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chrX:53142506_53142507insA ENST00000604849.1 + 0 96 AAAACACACACACAAAAAAAAA 0.356 5 6 --- --- --- ---