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 RFX1 5989 broad.mit.edu 37 19 14094339 14094339 + Missense_Mutation SNP C C T TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr19:14094339C>T ENST00000254325.4 - 3 622 c.388G>A c.(388-390)Gtt>Att p.V130I NM_002918.4 NP_002909.4 P22670 RFX1_HUMAN regulatory factor X, 1 (influences HLA class II expression) 130 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) TGAGTAGGAACGCCGGTCTGG 0.706000 5 14 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46262895 46262895 + Silent SNP A A T TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr20:46262895A>T ENST00000372004.3 + 10 1284 c.1068A>T c.(1066-1068)gtA>gtT p.V356V NCOA3_ENST00000371998.3_Silent_p.V356V|NCOA3_ENST00000371997.3_Silent_p.V366V|NCOA3_ENST00000341724.6_Silent_p.V366V NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 356 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GAAATCCTGTAACAAATGATC 0.403000 43 166 0 0 1 0 0 GDAP1L1 78997 broad.mit.edu 37 20 42885841 42885841 + Missense_Mutation SNP G G A TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr20:42885841G>A ENST00000342560.5 + 2 317 c.229G>A c.(229-231)Gtg>Atg p.V77M GDAP1L1_ENST00000372952.3_Missense_Mutation_p.V77M|GDAP1L1_ENST00000537864.1_Intron NM_001256737.1|NM_024034.4 NP_001243666.1|NP_076939.3 Q96MZ0 GD1L1_HUMAN ganglioside induced differentiation associated protein 1-like 1 77 GST N-terminal. endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1) 18 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GGAGCGGGACGTGAGCCTGCC 0.667000 17 17 0 0 1 0 0 KSR1 8844 broad.mit.edu 37 17 25783779 25783779 + Missense_Mutation SNP C C A rs143611966 by1000genomes TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr17:25783779C>A ENST00000319524.6 + 1 110 c.110C>A c.(109-111)gCg>gAg p.A37E KSR1_ENST00000509603.2_Missense_Mutation_p.A37E Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 35 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.A37E(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) GCCAGCCGGGCGCTGCAGCAG 0.741000 4 32 0.00024832 0.000257871 1 1 0 ACRC 93953 broad.mit.edu 37 X 70828953 70828953 + Missense_Mutation SNP G G A TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chrX:70828953G>A ENST00000373695.1 + 9 2134 c.1597G>A c.(1597-1599)Gtc>Atc p.V533I ACRC_ENST00000373696.3_Missense_Mutation_p.V533I|ACRC_ENST00000471950.1_3'UTR Q96QF7 ACRC_HUMAN acidic repeat containing 533 nucleus autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) TAACAGATCCGTCTGTGATAA 0.393000 20 32 0 0 1 0 0 FAM86FP 0 broad.mit.edu 37 12 8386955 8386955 + RNA SNP T T C rs75997195 TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr12:8386955T>C ENST00000427893.2 - 0 811 CTTGTGCTCCTGGCAGGCAGC 0.612000 4 87 0 0 1 0 0 IGHG4 0 broad.mit.edu 37 14 106090898 106090898 + RNA SNP C C T TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr14:106090898C>T ENST00000390543.2 - 0 898 GAAGACATTCCCCTCCTGCCA 0.587000 68 44 0 0 1 0 0 MED28 80306 broad.mit.edu 37 4 17616293 17616293 + Missense_Mutation SNP G G C TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr4:17616293G>C ENST00000237380.6 + 1 40 c.16G>C c.(16-18)Ggg>Cgg p.G6R NM_025205.3 NP_079481.2 Q9H204 MED28_HUMAN mediator complex subunit 28 6 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|membrane|nucleus actin binding lung(6)|skin(2) 8 GGCTCCACTAGGGGGTATGTT 0.652000 19 48 0 0 1 0 0 SLC6A17 388662 broad.mit.edu 37 1 110741027 110741027 + Silent SNP C C T rs151260028 TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr1:110741027C>T ENST00000331565.4 + 12 2630 c.2145C>T c.(2143-2145)agC>agT p.S715S NM_001010898.2 NP_001010898.1 Q9H1V8 S6A17_HUMAN solute carrier family 6 (neutral amino acid transporter), member 17 715 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) GCTATGGGAGCGGCTACCTGC 0.667000 31 46 0 0 1 0 0 OR2A5 393046 broad.mit.edu 37 7 143748419 143748419 + Silent SNP A A C TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr7:143748419A>C ENST00000408906.2 + 1 959 c.925A>C c.(925-927)Aga>Cga p.R309R NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) GTGGAAACAGAGATCAAAGTG 0.473000 28 20 0 0 1 0 0 NAA11 84779 broad.mit.edu 37 4 80246705 80246705 + Silent SNP C C A TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr4:80246705C>A ENST00000286794.4 - 1 499 c.327G>T c.(325-327)ctG>ctT p.L109L NM_032693.2 NP_116082.1 Q9BSU3 NAA11_HUMAN N(alpha)-acetyltransferase 11, NatA catalytic subunit 109 N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2) 23 TCCTGACGTGCAGAGACACGT 0.532000 19 37 5.35267e-07 5.78088e-07 1 1 0 REXO1 57455 broad.mit.edu 37 19 1827746 1827746 + Missense_Mutation SNP C C T TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr19:1827746C>T ENST00000170168.4 - 2 1136 c.1042G>A c.(1042-1044)Gac>Aac p.D348N REXO1_ENST00000587524.1_5'UTR NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 348 nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCTGGAGGTCCCCCACGTCG 0.687000 6 11 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 4 42 0 0 1 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3139727 3139727 + Missense_Mutation SNP G G A TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr16:3139727G>A ENST00000252463.2 - 5 1630 c.1543C>T c.(1543-1545)Cgg>Tgg p.R515W ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R433W|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R176W NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 515 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 GTGTGCACCCGTTGGTGGCTG 0.721000 6 15 0 0 1 0 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 3 43 0 0 1 0 0 IBSP 3381 broad.mit.edu 37 4 88723847 88723847 + Silent SNP C C T TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr4:88723847C>T ENST00000226284.5 + 4 214 c.147C>T c.(145-147)gcC>gcT p.A49A NM_004967.3 NP_004958.2 P21815 SIAL_HUMAN integrin-binding sialoprotein 49 biomineral tissue development|cell adhesion|ossification breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10) 21 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) ACAAGCATGCCTACTTTTATC 0.259000 17 33 0 0 1 0 0 ALG3 10195 broad.mit.edu 37 3 183963520 183963520 + Missense_Mutation SNP C C T TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr3:183963520C>T ENST00000455059.1 - 2 611 c.157G>A c.(157-159)Ggt>Agt p.G53S ALG3_ENST00000397676.3_Missense_Mutation_p.G93S|ALG3_ENST00000445626.2_Missense_Mutation_p.G45S|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_Intron Q92685 ALG3_HUMAN ALG3, alpha-1,3- mannosyltransferase 93 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane alpha-1,3-mannosyltransferase activity kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCGGTGTCACCCTGCAGTTGG 0.522000 26 27 0 0 1 0 0 LHX1 3975 broad.mit.edu 37 17 35300251 35300251 + Silent SNP G G A TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr17:35300251G>A ENST00000254457.5 + 5 2455 c.1044G>A c.(1042-1044)gcG>gcA p.A348A RP11-445F12.2_ENST00000607336.1_RNA NM_005568.3 NP_005559.2 P48742 LHX1_HUMAN LIM homeobox 1 348 cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development nucleus|protein complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(25;0.00607) ACATCCTGGCGCACCCACCCG 0.746000 9 9 0 0 1 0 0 FAM86JP 0 broad.mit.edu 37 3 125647387 125647387 + RNA SNP G G A TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr3:125647387G>A ENST00000485843.1 + 0 532 NR_024251.1 ACCAGAAACTGTTTCCCTATG 0.502000 4 136 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46262897 46262897 + Missense_Mutation SNP C C G TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr20:46262897C>G ENST00000372004.3 + 10 1286 c.1070C>G c.(1069-1071)aCa>aGa p.T357R NCOA3_ENST00000371998.3_Missense_Mutation_p.T357R|NCOA3_ENST00000371997.3_Missense_Mutation_p.T367R|NCOA3_ENST00000341724.6_Missense_Mutation_p.T367R NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 357 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 AATCCTGTAACAAATGATCGA 0.403000 40 165 0 0 1 0 0 MPPED1 758 broad.mit.edu 37 22 43821099 43821099 + Silent SNP G G A TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr22:43821099G>A ENST00000417669.1 + 2 552 c.108G>A c.(106-108)cgG>cgA p.R36R MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000538182.1_Silent_p.R69R|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000542779.1_Silent_p.R36R|MPPED1_ENST00000443721.1_Silent_p.R36R O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 36 hydrolase activity endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1) 13 all_neural(38;0.0244)|Ovarian(80;0.0694) TGGCCGCTCGGCGGCACCAGC 0.662000 22 18 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768091 31768091 + Missense_Mutation SNP C C T TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr19:31768091C>T ENST00000240587.4 - 2 2935 c.2608G>A c.(2608-2610)Gag>Aag p.E870K NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 870 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TCAGACTTCTCGGAGATGCTG 0.572000 42 77 0 0 1 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65810541 65810541 + Missense_Mutation SNP C C T TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr11:65810541C>T ENST00000312006.4 - 3 1014 c.733G>A c.(733-735)Gac>Aac p.D245N GAL3ST3_ENST00000527878.1_Missense_Mutation_p.D245N NM_033036.2 NP_149025.1 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 245 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity kidney(1)|lung(9)|ovary(2)|skin(2) 14 AGCGACTCGTCGAAGTACTCG 0.692000 35 46 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14850370 14850370 + Missense_Mutation SNP A A G TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr18:14850370A>G ENST00000358984.4 + 35 3376 c.3196A>G c.(3196-3198)Aat>Gat p.N1066D NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1151 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 TGTAACAAGTAATTTGAATCA 0.289000 4 11 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101459365 101459365 + Nonsense_Mutation SNP C C T TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr7:101459365C>T ENST00000360264.3 + 1 75 c.55C>T c.(55-57)Cag>Tag p.Q19* CUX1_ENST00000547394.2_Nonsense_Mutation_p.Q19*|CUX1_ENST00000292538.4_Nonsense_Mutation_p.Q19*|CUX1_ENST00000425244.2_Nonsense_Mutation_p.Q19*|CUX1_ENST00000437600.4_Nonsense_Mutation_p.Q19*|CUX1_ENST00000393824.3_Nonsense_Mutation_p.Q19* NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 8 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 TGATTTACAGCAGCTGCAGGT 0.672000 64 26 0 0 1 0 0 FAM86JP 0 broad.mit.edu 37 3 125647396 125647396 + RNA SNP T T C TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr3:125647396T>C ENST00000485843.1 + 0 541 NR_024251.1 TGTTTCCCTATGAAGAGCACT 0.502000 4 140 0 0 1 0 0 XRCC2 7516 broad.mit.edu 37 7 152345781 152345781 + Missense_Mutation SNP G G C TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr7:152345781G>C ENST00000359321.1 - 3 874 c.789C>G c.(787-789)aaC>aaG p.N263K XRCC2_ENST00000495707.1_5'UTR NM_005431.1 NP_005422.1 O43543 XRCC2_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 2 263 meiosis nucleus ATP binding|DNA binding|DNA-dependent ATPase activity NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2) 11 all_hematologic(28;0.0592)|Prostate(32;0.081) OV - Ovarian serous cystadenocarcinoma(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (81;0.0429) TTTTTAAACTGTTACTTTTTA 0.333000 Homologous recombination 27 51 0 0 1 0 0 MAP3K19 80122 broad.mit.edu 37 2 135782204 135782204 + Missense_Mutation SNP G G A TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr2:135782204G>A ENST00000375845.3 - 1 44 c.14C>T c.(13-15)cCa>cTa p.P5L MAP3K19_ENST00000392917.3_Missense_Mutation_p.P5L|MAP3K19_ENST00000392918.3_Missense_Mutation_p.P5L|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P5L|MAP3K19_ENST00000375844.3_Missense_Mutation_p.P5L NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 ACCTGGTTTTGGCATAGAACT 0.333000 36 82 0 0 1 0 0 TMEM105 284186 broad.mit.edu 37 17 79288241 79288241 + Missense_Mutation SNP C C T TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr17:79288241C>T ENST00000332900.1 - 2 571 c.22G>A c.(22-24)Gcg>Acg p.A8T NM_178520.3 NP_848615.1 Q8N8V8 TM105_HUMAN transmembrane protein 105 8 integral to membrane NS(1)|large_intestine(3)|lung(1)|ovary(2) 7 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892) TTCAAGGACGCCCTCCTCACC 0.647000 13 13 0 0 1 0 0 PTPRG 5793 broad.mit.edu 37 3 62153675 62153675 + Missense_Mutation SNP G G A TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr3:62153675G>A ENST00000474889.1 + 8 1248 c.871G>A c.(871-873)Gag>Aag p.E291K PTPRG_ENST00000295874.10_Missense_Mutation_p.E291K NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 291 Alpha-carbonic anhydrase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) CTTCACCACGGAGCAGCAAGA 0.478000 40 84 0 0 1 0 0 CDON 50937 broad.mit.edu 37 11 125887050 125887050 + Silent SNP G G A TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr11:125887050G>A ENST00000392693.3 - 6 988 c.861C>T c.(859-861)aaC>aaT p.N287N CDON_ENST00000263577.7_Silent_p.N287N NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated 287 Ig-like C2-type 3. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) TGCAGGAATAGTTTCCGGAGT 0.428000 28 43 0 0 1 0 0 RNF113B 140432 broad.mit.edu 37 13 98828793 98828793 + Missense_Mutation SNP C C A TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr13:98828793C>A ENST00000267291.6 - 1 726 c.698G>T c.(697-699)gGt>gTt p.G233V FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron NM_178861.4 NP_849192.1 Q8IZP6 R113B_HUMAN ring finger protein 113B 233 nucleic acid binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.13) ACAGTAGCGACCCTCTTCAAG 0.527000 25 54 3.08376e-08 3.39843e-08 1 1 0 SHCBP1 79801 broad.mit.edu 37 16 46655218 46655218 + Silent SNP C C T TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr16:46655218C>T ENST00000303383.3 - 1 320 c.54G>A c.(52-54)ccG>ccA p.P18P SHCBP1_ENST00000564272.1_5'UTR NM_024745.4 NP_079021.3 Q8NEM2 SHCBP_HUMAN SHC SH2-domain binding protein 1 18 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) CCATGCGCTCCGGCGCCATGG 0.697000 24 39 0 0 1 0 0 NEK6 10783 broad.mit.edu 37 9 127074826 127074826 + Silent SNP G G A TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr9:127074826G>A ENST00000373600.3 + 4 446 c.231G>A c.(229-231)gcG>gcA p.A77A NEK6_ENST00000539416.1_Silent_p.A68A|NEK6_ENST00000545174.1_Silent_p.A43A|NEK6_ENST00000546191.1_Silent_p.A43A|NEK6_ENST00000394199.2_Silent_p.A77A|NEK6_ENST00000540326.1_Silent_p.A61A|NEK6_ENST00000320246.5_Silent_p.A43A|NEK6_ENST00000373603.1_Silent_p.A43A NM_001145001.2 NP_001138473.1 Q9HC98 NEK6_HUMAN NIMA-related kinase 6 43 Protein kinase. apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition cytoplasm|nucleus ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1) 15 GCTCGCTGGCGGACTTCCAGA 0.612000 13 37 0 0 1 0 0 NAPSA 9476 broad.mit.edu 37 19 50862030 50862030 + Missense_Mutation SNP C C T TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr19:50862030C>T ENST00000253719.2 - 9 1251 c.1043G>A c.(1042-1044)cGa>cAa p.R348Q NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron NM_004851.1 NP_004842.1 O96009 NAPSA_HUMAN napsin A aspartic peptidase 348 proteolysis extracellular region aspartic-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) GACGCCATTTCGAGTAGTCTG 0.622000 7 15 0 0 1 0 0 PLXNB3 5365 broad.mit.edu 37 X 153033031 153033031 + Missense_Mutation SNP G G A TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chrX:153033031G>A ENST00000538966.1 + 4 1089 c.818G>A c.(817-819)cGc>cAc p.R273H PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000361971.5_Missense_Mutation_p.R250H|PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000538543.1_Intron NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 250 Sema. axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GTGTTccgccgccgcggggcc 0.706000 8 13 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31769601 31769601 + Silent SNP G G A TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr19:31769601G>A ENST00000240587.4 - 2 1425 c.1098C>T c.(1096-1098)taC>taT p.Y366Y NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 366 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Y366_G367>*(1)|p.Y183_G184>*(1) breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TCTGGTGGCCGTACCGATTAT 0.562000 75 150 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430975 37430975 + Missense_Mutation SNP G G A TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr10:37430975G>A ENST00000374660.1 + 7 1081 c.982G>A c.(982-984)Gca>Aca p.A328T ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A328T|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A328T Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 384 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TAGGAAGATCGCATGGGAGAA 0.433000 5 72 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 105261789 105261789 + Missense_Mutation SNP G G T TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr8:105261789G>T ENST00000507740.1 + 20 3342 c.3106G>T c.(3106-3108)Gta>Tta p.V1036L RIMS2_ENST00000339750.2_Missense_Mutation_p.V158L|RIMS2_ENST00000262231.10_Missense_Mutation_p.V1061L|RIMS2_ENST00000406091.3_Missense_Mutation_p.V1222L|RIMS2_ENST00000436393.2_Missense_Mutation_p.V1240L NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1284 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding 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) TGGCCTTGTTGTAAAACCAGG 0.403000 HNSCC(12;0.0054) 10 29 0.00829132 0.00829132 1 1 0 OBSCN 84033 broad.mit.edu 37 1 228471427 228471427 + Silent SNP C C T TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr1:228471427C>T ENST00000570156.2 + 38 10322 c.10248C>T c.(10246-10248)tgC>tgT p.C3416C OBSCN_ENST00000366707.4_Silent_p.C106C|OBSCN_ENST00000359599.6_Silent_p.C1834C|OBSCN_ENST00000422127.1_Silent_p.C2987C|OBSCN_ENST00000284548.11_Silent_p.C2987C|OBSCN_ENST00000366709.4_Silent_p.C106C NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2451 Ig-like 34. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding p.C3270C(1)|p.C3041C(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CCTATACCTGCGACATTGGCC 0.647000 32 77 0 0 1 0 0 SLC25A39 51629 broad.mit.edu 37 17 42400907 42400907 + Silent SNP G G A TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr17:42400907G>A ENST00000225308.8 - 2 198 c.24C>T c.(22-24)ggC>ggT p.G8G SLC25A39_ENST00000590194.1_Silent_p.G8G|SLC25A39_ENST00000537904.2_Silent_p.G8G|SLC25A39_ENST00000377095.5_Silent_p.G8G|SLC25A39_ENST00000586016.1_Intron NM_016016.2 NP_057100.1 Q9BZJ4 S2539_HUMAN solute carrier family 25, member 39 8 heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 Prostate(33;0.0233) BRCA - Breast invasive adenocarcinoma(366;0.189) GGGGGCTGATGCCCGCAGGGT 0.607000 4 4 0 0 1 0 0 KCNS3 3790 broad.mit.edu 37 2 18112378 18112378 + Missense_Mutation SNP C C T TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr2:18112378C>T ENST00000403915.1 + 3 554 c.103C>T c.(103-105)Cgg>Tgg p.R35W KCNS3_ENST00000304101.4_Missense_Mutation_p.R35W|KCNS3_ENST00000465292.1_Intron Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 35 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CACCCTCCTGCGGTTTCCTCA 0.512000 40 77 0 0 1 0 0 RASGEF1C 255426 broad.mit.edu 37 5 179563505 179563505 + Missense_Mutation SNP C C T TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr5:179563505C>T ENST00000393371.2 - 3 607 c.311G>A c.(310-312)cGg>cAg p.R104Q RASGEF1C_ENST00000522500.1_5'UTR|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.R104Q Q8N431 RGF1C_HUMAN RasGEF domain family, member 1C 104 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 12 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCGAACTTCCGGACCCGGGC 0.687000 5 7 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55210075 55210075 + Missense_Mutation SNP T T G TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr7:55210075T>G ENST00000275493.2 + 2 362 c.185T>G c.(184-186)cTt>cGt p.L62R EGFR_ENST00000442591.1_Missense_Mutation_p.L62R|EGFR_ENST00000454757.2_Missense_Mutation_p.L9R|EGFR_ENST00000420316.2_Missense_Mutation_p.L62R|EGFR_ENST00000342916.3_Missense_Mutation_p.L62R|EGFR_ENST00000455089.1_Missense_Mutation_p.L62R|EGFR_ENST00000344576.2_Missense_Mutation_p.L62R NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 62 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.L62R(3) 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) GAGGTGGTCCTTGGGAATTTG 0.408000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 44 167 0 0 1 0 0 SLC6A4 6532 broad.mit.edu 37 17 28537613 28537613 + Missense_Mutation SNP C C T TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr17:28537613C>T ENST00000401766.2 - 10 1881 c.1369G>A c.(1369-1371)Gtc>Atc p.V457I SLC6A4_ENST00000261707.3_Missense_Mutation_p.V457I P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 457 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity p.V457I(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) TTGGCCCAGACGTGTGGGAAC 0.597000 25 62 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220313697 220313697 + Translation_Start_Site DEL A A - TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr2:220313697delA ENST00000396695.2 + 0 1342 SPEG_ENST00000312358.7_Frame_Shift_Del_p.E606fs|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396698.1_Frame_Shift_Del_p.E502fs Q15772 SPEG_HUMAN SPEG complex locus muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GCCATCCAGGAGTGCAGGAGC 0.756 2 4 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151859576 151859576 + Frame_Shift_Del DEL G G - TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr7:151859576delG ENST00000355193.2 - 43 11304 c.11086delC c.(11086-11088)aafs p.Q3697fs KMT2C_ENST00000262189.6_Frame_Shift_Del_p.Q3697fs lysine (K)-specific methyltransferase 2C TACGTCTGTTGATTTGGAGTT 0.468 112 234 --- --- --- --- ELMOD1 55531 broad.mit.edu 37 11 107521064 107521064 + Frame_Shift_Del DEL T T - TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr11:107521064delT ENST00000265840.7 + 8 823 c.558delT c.(556-558)tafs p.Y186fs ELMOD1_ENST00000531234.1_Frame_Shift_Del_p.Y180fs|ELMOD1_ENST00000443271.2_Frame_Shift_Del_p.Y186fs NM_018712.3 NP_061182.3 Q8N336 ELMD1_HUMAN ELMO/CED-12 domain containing 1 186 ELMO. phagocytosis cytoskeleton GTPase activator activity endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1) 19 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481) GCTGCAGGTATTTCGCGGAAA 0.413 2 4 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 7 38 --- --- --- --- SLC25A10 1468 broad.mit.edu 37 17 79682008 79682008 + Frame_Shift_Del DEL T T - TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53d89c8c-9732-4d1b-9cf3-49f1fb294853 2fc2d89c-126c-4a1f-987f-aa357fc63c67 g.chr17:79682008delT ENST00000331531.5 + 2 239 c.119delT c.(118-120)ggfs p.V40fs SLC25A10_ENST00000350690.5_Frame_Shift_Del_p.V40fs|SLC25A10_ENST00000545862.1_5'UTR|SLC25A10_ENST00000541223.1_Frame_Shift_Del_p.V195fs|SLC25A10_ENST00000571730.1_Frame_Shift_Del_p.V195fs NM_001270888.1 NP_001257817.1 Q9UBX3 DIC_HUMAN solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 40 gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 14 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) CAGCAGGAGGTGAAGCTGCGC 0.657 9 38 --- --- --- ---