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 TOMM40 10452 broad.mit.edu 37 19 45406290 45406290 + Missense_Mutation SNP C C T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr19:45406290C>T ENST00000426677.2 + 9 1130 c.950C>T c.(949-951)tCt>tTt p.S317F TOMM40_ENST00000252487.5_Missense_Mutation_p.S317F|TOMM40_ENST00000592434.1_3'UTR|TOMM40_ENST00000405636.2_Missense_Mutation_p.S317F NM_001128917.1 NP_001122389.1 O96008 TOM40_HUMAN translocase of outer mitochondrial membrane 40 homolog (yeast) 317 protein targeting to mitochondrion integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1) 5 Lung NSC(12;0.0018)|all_lung(12;0.00481) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176) CCTGCAGGCTCTGTGGATAGC 0.602000 10 63 0 0 1 0 0 PRKAA2 5563 broad.mit.edu 37 1 57161755 57161755 + Silent SNP C C G TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr1:57161755C>G ENST00000371244.4 + 6 777 c.711C>G c.(709-711)ctC>ctG p.L237L NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 237 Protein kinase. carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 CAGAATATCTCAATCGTTCTG 0.423000 75 463 0 0 1 0 0 KIAA1755 85449 broad.mit.edu 37 20 36870321 36870321 + Nonsense_Mutation SNP G G C TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr20:36870321G>C ENST00000279024.4 - 3 483 c.212C>G c.(211-213)tCa>tGa p.S71* NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 71 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) GAGGCAGTGTGAGTAGGGAGC 0.572000 10 100 0 0 1 0 0 PTER 9317 broad.mit.edu 37 10 16553183 16553183 + Silent SNP G G A TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr10:16553183G>A ENST00000378000.1 + 6 1224 c.978G>A c.(976-978)ctG>ctA p.L326L PTER_ENST00000298942.3_Silent_p.L326L|PTER_ENST00000535784.2_Silent_p.L326L|PTER_ENST00000423462.2_Silent_p.L279L NM_001001484.2|NM_001261838.1|NM_030664.4 NP_001001484.1|NP_001248767.1|NP_109589.2 Q96BW5 PTER_HUMAN phosphotriesterase related 326 catabolic process hydrolase activity, acting on ester bonds|zinc ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2) 15 AAATGTTGCTGAGAGGCATAA 0.393000 19 120 0 0 1 0 0 KDM2B 84678 broad.mit.edu 37 12 121947596 121947596 + Missense_Mutation SNP G G A TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr12:121947596G>A ENST00000377069.4 - 11 1734 c.1328C>T c.(1327-1329)tCt>tTt p.S443F KDM2B_ENST00000538046.2_Missense_Mutation_p.S384F|KDM2B_ENST00000536437.1_Missense_Mutation_p.S357F|KDM2B_ENST00000377071.4_Missense_Mutation_p.S474F NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 474 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 CGACTCATTAGACAAAGTCCT 0.597000 11 97 0 0 1 0 0 KIAA1755 85449 broad.mit.edu 37 20 36869562 36869562 + Missense_Mutation SNP G G A TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr20:36869562G>A ENST00000279024.4 - 3 1242 c.971C>T c.(970-972)tCa>tTa p.S324L NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 324 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) ATTGGCCTCTGAGAGAGGCAG 0.498000 26 285 0 0 1 0 0 STIL 6491 broad.mit.edu 37 1 47746154 47746154 + Missense_Mutation SNP G G A TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr1:47746154G>A ENST00000360380.3 - 13 2339 c.1976C>T c.(1975-1977)tCa>tTa p.S659L STIL_ENST00000337817.5_Missense_Mutation_p.S659L|STIL_ENST00000243182.6_Missense_Mutation_p.S659L|STIL_ENST00000396221.2_Missense_Mutation_p.S659L|STIL_ENST00000371877.3_Missense_Mutation_p.S659L Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 659 PIN1-binding (By similarity). cell proliferation|multicellular organismal development centrosome|cytosol p.S659L(1) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) AGGACTACTTGAAGAACAGAA 0.468000 16 148 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26695086 26695086 + Silent SNP C C T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr22:26695086C>T ENST00000529632.2 + 5 1495 c.1299C>T c.(1297-1299)tgC>tgT p.C433C SEZ6L_ENST00000343706.4_Silent_p.C433C|SEZ6L_ENST00000248933.6_Silent_p.C433C|SEZ6L_ENST00000360929.3_Silent_p.C433C|SEZ6L_ENST00000404234.3_Silent_p.C433C|SEZ6L_ENST00000402979.1_Silent_p.C206C|SEZ6L_ENST00000403121.1_Silent_p.C206C NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 433 Sushi 1. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 TGCTGACATGCATCAATGCCT 0.597000 4 36 0 0 1 0 0 RBMS2 5939 broad.mit.edu 37 12 56963764 56963764 + Missense_Mutation SNP A A T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr12:56963764A>T ENST00000262031.5 + 4 469 c.374A>T c.(373-375)cAg>cTg p.Q125L RBMS2_ENST00000549945.1_3'UTR|RBMS2_ENST00000550726.1_5'UTR|RBMS2_ENST00000552247.2_Missense_Mutation_p.Q125L|RBMS2_ENST00000542360.1_5'UTR NM_002898.3 NP_002889.1 Q15434 RBMS2_HUMAN RNA binding motif, single stranded interacting protein 2 125 RRM 1. RNA processing nucleus nucleotide binding|RNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1) 18 GTACAGGCACAGATGGCAAAG 0.502000 4 106 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123725972 123725972 + Missense_Mutation SNP G G A TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr9:123725972G>A ENST00000223642.1 - 34 4294 c.4265C>T c.(4264-4266)gCg>gTg p.A1422V NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 1422 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) GTCCATCACCGCATGAGAGGA 0.358000 4 148 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100365499 100365499 + RNA SNP C C T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr7:100365499C>T ENST00000542585.1 + 0 5054 ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane p.R1636W(2) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TGCACAAGGCCGGGTGACCAT 0.577000 6 32 0 0 1 0 0 GOLGA7B 401647 broad.mit.edu 37 10 99623701 99623701 + Silent SNP C C G TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr10:99623701C>G ENST00000370602.1 + 3 218 c.153C>G c.(151-153)ctC>ctG p.L51L NM_001010917.2 NP_001010917.1 Q2TAP0 GOG7B_HUMAN golgin A7 family, member B 51 Golgi membrane endometrium(1)|large_intestine(3)|prostate(1) 5 AGCGGCAGCTCTTTGAAGAGA 0.602000 11 86 0 0 1 0 0 FGF12 2257 broad.mit.edu 37 3 192125823 192125823 + Missense_Mutation SNP G G A TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr3:192125823G>A ENST00000454309.2 - 1 1015 c.190C>T c.(190-192)Cgg>Tgg p.R64W FGF12_ENST00000430714.1_Intron|FGF12_ENST00000264730.3_Intron|FGF12_ENST00000450716.1_Intron|FGF12_ENST00000445105.1_Intron NM_021032.4 NP_066360.1 P61328 FGF12_HUMAN fibroblast growth factor 12 64 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) CCTGGTCTCCGCCTCACCGGC 0.667000 34 247 0 0 1 0 0 UNC5C 8633 broad.mit.edu 37 4 96166282 96166282 + Nonsense_Mutation SNP C C T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr4:96166282C>T ENST00000453304.1 - 6 1137 c.789G>A c.(787-789)tgG>tgA p.W263* UNC5C_ENST00000506749.1_Nonsense_Mutation_p.W263* NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 263 TSP type-1 1. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TCCAGGTGGACCAGCCACCGT 0.493000 7 42 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73680429 73680429 + Missense_Mutation SNP C C G TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr2:73680429C>G ENST00000264448.6 + 8 6883 c.6772C>G c.(6772-6774)Ctt>Gtt p.L2258V ALMS1_ENST00000409009.1_Missense_Mutation_p.L2216V|ALMS1_ENST00000377715.1_Missense_Mutation_p.L2258V NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2258 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TGCTAAAACTCTTAAGGAAAT 0.398000 14 81 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138529060 138529060 + Splice_Site SNP A A G TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr7:138529060A>G ENST00000440172.1 - 18 5501 c.e18+1 KIAA1549_ENST00000422774.1_Splice_Site|KIAA1549_ENST00000242365.4_Splice_Site NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 AGCCACATATACCTGTGGTAC 0.557000 O BRAF pilocytic astrocytoma 6 33 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84533044 84533044 + RNA SNP T T C rs530720 by1000genomes TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr9:84533044T>C ENST00000527857.1 + 0 3066 NR_026851.1 TTTTCTGATATTGACCATGAC 0.458000 3 37 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195400709 195400709 + RNA SNP C C T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr3:195400709C>T ENST00000445430.1 + 0 1305 ACGGGAATGGCCAGGATCAGA 0.592000 4 67 0 0 1 0 0 ATP8A2 51761 broad.mit.edu 37 13 26434338 26434338 + Missense_Mutation SNP G G C TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr13:26434338G>C ENST00000381655.2 + 31 3104 c.2962G>C c.(2962-2964)Gtg>Ctg p.V988L ATP8A2_ENST00000255283.8_Missense_Mutation_p.V923L|ATP8A2_ENST00000491840.1_3'UTR NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 948 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 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) TTCAGATACTGTGTTGACAAG 0.343000 11 90 0 0 1 0 0 FBXL6 26233 broad.mit.edu 37 8 145579649 145579649 + Missense_Mutation SNP C C T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr8:145579649C>T ENST00000331890.5 - 8 1515 c.1451G>A c.(1450-1452)cGg>cAg p.R484Q FBXL6_ENST00000526524.1_Intron|FBXL6_ENST00000455319.2_Missense_Mutation_p.R478Q NM_012162.2 NP_036294.1 Q8N531 FBXL6_HUMAN F-box and leucine-rich repeat protein 6 484 proteolysis ubiquitin-protein ligase activity endometrium(1)|lung(3)|ovary(1) 5 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) TGGTGTGACCCGGGTGCCCCT 0.632000 15 71 0 0 1 0 0 OCM2 4951 broad.mit.edu 37 7 97617777 97617777 + Missense_Mutation SNP G G A TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr7:97617777G>A ENST00000257627.4 - 2 236 c.145C>T c.(145-147)Cgg>Tgg p.R49W OCM2_ENST00000473987.2_5'UTR NM_006188.3 NP_006179.2 P0CE71 OCM2_HUMAN oncomodulin 2 49 EF-hand 1. calcium ion binding lung(4) 4 TCTATGAACCGGAAAACATCC 0.507000 20 129 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101493408 101493408 + Missense_Mutation SNP G G A TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr12:101493408G>A ENST00000392979.3 + 21 2315 c.1954G>A c.(1954-1956)Gaa>Aaa p.E652K ANO4_ENST00000550015.1_Missense_Mutation_p.E207K|ANO4_ENST00000392977.3_Missense_Mutation_p.E687K|ANO4_ENST00000299222.9_Missense_Mutation_p.E207K NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 687 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 ACATGGACCTGAAAGGAAAAT 0.358000 HNSCC(74;0.22) 10 93 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946438 16946438 + RNA SNP G G A rs28392876 by1000genomes TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr1:16946438G>A ENST00000412962.1 - 0 1081 GCCTTCCGCCGGGCCAGCAGC 0.672000 5 30 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103412503 103412503 + Missense_Mutation SNP C C T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr1:103412503C>T ENST00000358392.2 - 42 3531 c.3214G>A c.(3214-3216)Gga>Aga p.G1072R COL11A1_ENST00000512756.1_Missense_Mutation_p.G944R|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1060R|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1021R NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1060 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.G1072*(1)|p.G1060*(1) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCACGTTCTCCTGGTGAGCCC 0.468000 9 29 0 0 1 0 0 SNRNP200 23020 broad.mit.edu 37 2 96956103 96956103 + Silent SNP G G C TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr2:96956103G>C ENST00000323853.5 - 20 2780 c.2703C>G c.(2701-2703)ctC>ctG p.L901L SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 901 Helicase C-terminal 1. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 TTTCTGCATTGAGCATGTCAG 0.488000 28 227 0 0 1 0 0 BMS1 9790 broad.mit.edu 37 10 43318566 43318566 + Splice_Site SNP G G A TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr10:43318566G>A ENST00000374518.4 + 20 3196 c.3132_splice c.e20-1 p.G1045_splice NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 1045 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 ATACCTGTAGGGAATGTTTAA 0.388000 5 128 0 0 1 0 0 SEMA4D 10507 broad.mit.edu 37 9 92002396 92002396 + Missense_Mutation SNP C C A TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr9:92002396C>A ENST00000450295.1 - 12 2011 c.1235G>T c.(1234-1236)aGg>aTg p.R412M SEMA4D_ENST00000339861.4_Missense_Mutation_p.R412M|SEMA4D_ENST00000438547.2_Missense_Mutation_p.R412M|SEMA4D_ENST00000356444.2_Missense_Mutation_p.R412M|SEMA4D_ENST00000343780.4_Missense_Mutation_p.R412M|SEMA4D_ENST00000455551.2_Missense_Mutation_p.R412M|SEMA4D_ENST00000420987.1_Missense_Mutation_p.R412M|SEMA4D_ENST00000422704.2_Missense_Mutation_p.R412M Q92854 SEM4D_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D 412 Sema. anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 CTTGATTAACCTGGGCCTGTT 0.507000 4 89 0.150653 0.151909 1 1 0 ASPA 443 broad.mit.edu 37 17 3386832 3386832 + Missense_Mutation SNP G G C TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr17:3386832G>C ENST00000263080.2 + 3 630 c.472G>C c.(472-474)Gag>Cag p.E158Q SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.E158Q NM_000049.2 NP_000040.1 P45381 ACY2_HUMAN aspartoacylase 158 aspartate catabolic process cytoplasm|nucleus aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1) 17 L-Aspartic Acid(DB00128) TTATCTGATTGAGCATCCTTC 0.403000 11 93 0 0 1 0 0 MC2R 4158 broad.mit.edu 37 18 13885017 13885017 + Silent SNP G G T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr18:13885017G>T ENST00000327606.3 - 2 681 c.501C>A c.(499-501)atC>atA p.I167I NM_000529.2 NP_000520.1 Q01718 ACTHR_HUMAN melanocortin 2 receptor (adrenocorticotropic hormone) 167 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Corticotropin(DB01285)|Cosyntropin(DB01284) GATGGGAGAAGATCACCATGG 0.577000 10 85 1.58986e-06 1.68749e-06 1 1 0 TRIM13 10206 broad.mit.edu 37 13 50586100 50586100 + Silent SNP C C G TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr13:50586100C>G ENST00000378182.3 + 2 762 c.24C>G c.(22-24)ctC>ctG p.L8L TRIM13_ENST00000298772.5_Silent_p.L11L|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000420995.2_Silent_p.L8L|TRIM13_ENST00000356017.4_Silent_p.L11L|TRIM13_ENST00000457662.2_Silent_p.L8L NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1 NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1 O60858 TRI13_HUMAN tripartite motif containing 13 8 anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination cytoplasm|endoplasmic reticulum membrane|integral to membrane protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205) AAGAAGATCTCACATGCCCTA 0.383000 30 159 0 0 1 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68111170 68111170 + Silent SNP C C T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr8:68111170C>T ENST00000262215.3 - 39 5938 c.5549G>A c.(5548-5550)tGa>tAa p.*1850* ARFGEF1_ENST00000520381.1_Intron|ARFGEF1_ENST00000517955.1_5'UTR NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 0 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) AAGTTCCCATCATTGCTTGTT 0.398000 5 103 0 0 1 0 0 PARP14 54625 broad.mit.edu 37 3 122399744 122399744 + Missense_Mutation SNP G G A TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr3:122399744G>A ENST00000474629.2 + 1 280 c.14G>A c.(13-15)gGc>gAc p.G5D NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 5 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity 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) GCTGTGCCCGGCTCCTTCCCG 0.632000 3 10 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19591191 19591191 + Missense_Mutation SNP C C T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr5:19591191C>T ENST00000507958.1 - 9 1964 c.974G>A c.(973-975)aGa>aAa p.R325K CDH18_ENST00000506372.1_Missense_Mutation_p.R325K|CDH18_ENST00000511273.1_Missense_Mutation_p.R325K|CDH18_ENST00000274170.4_Missense_Mutation_p.R325K|CDH18_ENST00000502796.1_Missense_Mutation_p.R325K|CDH18_ENST00000382275.1_Missense_Mutation_p.R325K Q13634 CAD18_HUMAN cadherin 18, type 2 325 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) GATTCCTTCTCTGGTCTCTTT 0.403000 19 123 0 0 1 0 0 TAS2R46 259292 broad.mit.edu 37 12 11214124 11214124 + Missense_Mutation SNP T T G TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr12:11214124T>G ENST00000533467.1 - 1 769 c.770A>C c.(769-771)aAc>aCc p.N257T PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176887.2 NP_795368.2 P59540 T2R46_HUMAN taste receptor, type 2, member 46 257 sensory perception of taste cilium membrane|integral to membrane G-protein coupled receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) GACAGGTTTGTTTTCCAGACT 0.408000 45 246 0 0 1 0 0 OR2C3 81472 broad.mit.edu 37 1 247695055 247695055 + Silent SNP G G A TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr1:247695055G>A ENST00000366487.3 - 2 1120 c.759C>T c.(757-759)taC>taT p.Y253Y GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 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;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) TGATGCTCCCGTAAAACAGAG 0.547000 11 119 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152655237 152655237 + Missense_Mutation SNP C C T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr6:152655237C>T ENST00000367255.5 - 77 13301 c.12700G>A c.(12700-12702)Gag>Aag p.E4234K SYNE1_ENST00000341594.5_Missense_Mutation_p.E4099K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E4163K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E4234K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E4163K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4234 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGAAGATCCTCTTCCCTTTGC 0.398000 HNSCC(10;0.0054) 5 204 0 0 1 0 0 DMRTA1 63951 broad.mit.edu 37 9 22451531 22451531 + Missense_Mutation SNP C C T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr9:22451531C>T ENST00000325870.1 + 2 1361 c.1136C>T c.(1135-1137)tCa>tTa p.S379L NM_022160.2 NP_071443.2 Q5VZB9 DMRTA_HUMAN DMRT-like family A1 379 cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563) GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517) CTAGCAAACTCAGAAGAACTG 0.428000 14 100 0 0 1 0 0 CYP11B1 1584 broad.mit.edu 37 8 143956410 143956410 + Missense_Mutation SNP C C T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr8:143956410C>T ENST00000292427.4 - 8 1393 c.1361G>A c.(1360-1362)cGc>cAc p.R454H CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000377675.3_Missense_Mutation_p.R525H NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 454 R -> C (in AH4). aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) CTCTGCCAGGCGCCGCCCAAG 0.682000 Familial Hyperaldosteronism type I 32 98 0 0 1 0 0 USO1 8615 broad.mit.edu 37 4 76725349 76725349 + Silent SNP C C G TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr4:76725349C>G ENST00000538159.1 + 19 2076 c.2076C>G c.(2074-2076)ctC>ctG p.L692L USO1_ENST00000514213.2_Silent_p.L668L O60763 USO1_HUMAN USO1 vesicle transport factor 683 intracellular protein transport|vesicle fusion with Golgi apparatus cytosol|Golgi membrane protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) ATGAACAGCTCCAGACGGCAG 0.383000 10 27 0 0 1 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203816649 203816649 + Silent SNP A A T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr1:203816649A>T ENST00000545588.1 + 12 5207 c.1380A>T c.(1378-1380)gcA>gcT p.A460A ZC3H11A_ENST00000367214.1_Silent_p.A460A|ZC3H11A_ENST00000332127.4_Silent_p.A460A|ZC3H11A_ENST00000367212.3_Silent_p.A460A|ZC3H11A_ENST00000367210.1_Silent_p.A460A NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 460 nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) AGGAGCCTGCAGGTAAAACAA 0.453000 18 113 0 0 1 0 0 RFX2 5990 broad.mit.edu 37 19 6040136 6040136 + Missense_Mutation SNP G G A TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr19:6040136G>A ENST00000303657.5 - 5 526 c.377C>T c.(376-378)gCg>gTg p.A126V RFX2_ENST00000592546.1_Missense_Mutation_p.A126V|RFX2_ENST00000359161.3_Missense_Mutation_p.A126V NM_000635.3 NP_000626.2 P48378 RFX2_HUMAN regulatory factor X, 2 (influences HLA class II expression) 126 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 GGAGGGGACCGCTGGCGGGGA 0.677000 15 91 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8654233 8654233 + Missense_Mutation SNP C C T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr19:8654233C>T ENST00000270328.4 - 17 2317 c.2051G>A c.(2050-2052)cGa>cAa p.R684Q ADAMTS10_ENST00000595838.1_Missense_Mutation_p.R171Q|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.R684Q Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 684 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 GCCCAGGACTCGGTCGCAGCC 0.692000 5 69 0 0 1 0 0 PRDM5 11107 broad.mit.edu 37 4 121616407 121616407 + Silent SNP C C T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr4:121616407C>T ENST00000264808.3 - 16 1992 c.1752G>A c.(1750-1752)ctG>ctA p.L584L PRDM5_ENST00000515109.1_3'UTR|PRDM5_ENST00000506065.1_5'UTR|PRDM5_ENST00000428209.2_Silent_p.L553L NM_018699.2 NP_061169.2 Q9NQX1 PRDM5_HUMAN PR domain containing 5 584 histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GCATTTTCTTCAGGCTAAAAG 0.358000 12 80 0 0 1 0 0 NPEPPS 9520 broad.mit.edu 37 17 45689949 45689949 + Missense_Mutation SNP C C G TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr17:45689949C>G ENST00000322157.4 + 18 2456 c.2219C>G c.(2218-2220)tCc>tGc p.S740C NPEPPS_ENST00000530173.1_Missense_Mutation_p.S736C|RP11-580I16.2_ENST00000582066.1_RNA|RP11-580I16.2_ENST00000582389.1_RNA|NPEPPS_ENST00000544660.1_Missense_Mutation_p.S660C NM_006310.3 NP_006301.3 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 740 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 CAGATTCTCTCCGCTGATCTG 0.408000 17 97 0 0 1 0 0 MEX3D 399664 broad.mit.edu 37 19 1556694 1556694 + Missense_Mutation SNP G G T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr19:1556694G>T ENST00000402693.4 - 2 823 c.824C>A c.(823-825)aCc>aAc p.T275N MEX3D_ENST00000388824.6_Missense_Mutation_p.T275N NM_203304.3 NP_976049.3 Q86XN8 MEX3D_HUMAN mex-3 RNA binding family member D 275 KH 2. mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis nucleus|perinuclear region of cytoplasm AU-rich element binding|zinc ion binding endometrium(1)|lung(3) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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) CACCTGGATGGTGGTCTGTCC 0.716000 6 62 3.59834e-05 3.72136e-05 1 1 0 LAMC2 3918 broad.mit.edu 37 1 183208566 183208566 + Silent SNP C C T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr1:183208566C>T ENST00000264144.4 + 20 3002 c.2937C>T c.(2935-2937)atC>atT p.I979I LAMC2_ENST00000493293.1_Silent_p.I979I NM_005562.2 NP_005553.2 Q13753 LAMC2_HUMAN laminin, gamma 2 979 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 TCTCCTACATCAGCCAGAAGG 0.517000 34 203 0 0 1 0 0 CLK4 57396 broad.mit.edu 37 5 178044413 178044413 + Missense_Mutation SNP G G C TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr5:178044413G>C ENST00000316308.4 - 4 575 c.407C>G c.(406-408)tCc>tGc p.S136C CLK4_ENST00000522749.1_Intron NM_020666.2 NP_065717.1 Q9HAZ1 CLK4_HUMAN CDC-like kinase 4 136 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2) 21 all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918) all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.235) TATACTCCTGGATCTTTTCCT 0.433000 10 64 0 0 1 0 0 IGKV1D-42 28892 broad.mit.edu 37 2 90229357 90229357 + RNA SNP G G A TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr2:90229357G>A ENST00000390278.2 + 0 197 CCTGGTATCTGCAGAAACCAG 0.493000 4 89 0 0 1 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98411122 98411122 + Missense_Mutation SNP G G C TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr10:98411122G>C ENST00000339364.5 - 6 990 c.871C>G c.(871-873)Ccc>Gcc p.P291A PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.P113A NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 291 DBB. cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) GTGTTGTAGGGCACAATTTTA 0.453000 25 86 0 0 1 0 0 OR2M5 127059 broad.mit.edu 37 1 248308903 248308903 + Missense_Mutation SNP G G A TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr1:248308903G>A ENST00000366476.1 + 1 454 c.454G>A c.(454-456)Ggc>Agc p.G152S NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) CTGGATCCTGGGCTCTATGGA 0.468000 50 479 0 0 1 0 0 ITGA5 3678 broad.mit.edu 37 12 54812814 54812814 + Missense_Mutation SNP C C G TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr12:54812814C>G ENST00000293379.4 - 1 430 c.169G>C c.(169-171)Ggc>Cgc p.G57R RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 57 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 AAGAAGGAGCCCGGGGGCCCC 0.687000 7 46 0 0 1 0 0 LHX8 431707 broad.mit.edu 37 1 75602909 75602909 + Missense_Mutation SNP G G T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr1:75602909G>T ENST00000294638.5 + 4 894 c.230G>T c.(229-231)aGt>aTt p.S77I LHX8_ENST00000559413.1_3'UTR|LHX8_ENST00000356261.3_Missense_Mutation_p.S67I NM_001001933.1 NP_001001933.1 Q68G74 LHX8_HUMAN LIM homeobox 8 77 LIM zinc-binding 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1) 30 GTGTGCAACAGTTGCGGCCTG 0.662000 5 36 0.000602214 0.000612336 1 1 0 FNDC8 54752 broad.mit.edu 37 17 33454292 33454292 + Silent SNP G G A TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr17:33454292G>A ENST00000158009.5 + 2 556 c.441G>A c.(439-441)caG>caA p.Q147Q NM_017559.2 NP_060029.1 Q8TC99 FNDC8_HUMAN fibronectin type III domain containing 8 147 breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1) 11 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.022) CGAAGTCCCAGATGGCCACAA 0.582000 30 195 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2817994 2817994 + Missense_Mutation SNP G G A TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr16:2817994G>A ENST00000301740.8 + 11 8014 c.7465G>A c.(7465-7467)Gat>Aat p.D2489N SRRM2_ENST00000574593.1_3'UTR NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 2489 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 CTCTGCTGGTGATCACAATGG 0.607000 9 76 0 0 1 0 0 NSMAF 8439 broad.mit.edu 37 8 59520336 59520336 + Missense_Mutation SNP T T C TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr8:59520336T>C ENST00000038176.3 - 11 963 c.751A>G c.(751-753)Atg>Gtg p.M251V NSMAF_ENST00000427130.2_Missense_Mutation_p.M282V|NSMAF_ENST00000519858.1_5'UTR NM_003580.3 NP_003571.2 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation associated factor 251 ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) ACCAGAGGCATGAGGCCGTGC 0.458000 18 121 0 0 1 0 0 YARS 8565 broad.mit.edu 37 1 33263385 33263385 + Missense_Mutation SNP C C G TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr1:33263385C>G ENST00000373477.4 - 5 1478 c.570G>C c.(568-570)aaG>aaC p.K190N NM_003680.3 NP_003671.1 P54577 SYYC_HUMAN tyrosyl-tRNA synthetase 190 apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) AGGTGAAAATCTTTCTCTGAT 0.383000 20 99 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 66879131 66879131 + Missense_Mutation SNP C C T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr13:66879131C>T ENST00000544246.1 - 5 4061 c.3370G>A c.(3370-3372)Gaa>Aaa p.E1124K PCDH9_ENST00000377865.2_Missense_Mutation_p.E1124K|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000328454.5_Missense_Mutation_p.E1090K|PCDH9_ENST00000456367.1_Missense_Mutation_p.E1090K NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 1124 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TCTGTAGCTTCAGCTAATCCT 0.438000 10 66 0 0 1 0 0 RNH1 6050 broad.mit.edu 37 11 498031 498031 + Missense_Mutation SNP G G A TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr11:498031G>A ENST00000534797.1 - 7 2474 c.1067C>T c.(1066-1068)gCg>gTg p.A356V RNH1_ENST00000533410.1_Missense_Mutation_p.A356V|RNH1_ENST00000397604.3_Missense_Mutation_p.A356V|RNH1_ENST00000397614.1_Missense_Mutation_p.A356V|RNH1_ENST00000397615.2_Missense_Mutation_p.A356V|RNH1_ENST00000356187.5_Missense_Mutation_p.A356V|RNH1_ENST00000354420.2_Missense_Mutation_p.A356V|RNH1_ENST00000438658.2_Missense_Mutation_p.A356V P13489 RINI_HUMAN ribonuclease/angiogenin inhibitor 1 356 mRNA catabolic process|regulation of angiogenesis angiogenin-PRI complex|cytoplasm protein binding|ribonuclease inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCGCACGCCCGCATCCTCCAG 0.612000 4 97 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43907989 43907989 + Nonsense_Mutation SNP C C T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr1:43907989C>T ENST00000562955.1 + 56 7753 c.7753C>T c.(7753-7755)Cga>Tga p.R2585* SZT2_ENST00000372442.1_Nonsense_Mutation_p.R1743* NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2642 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GAGCTCAGGGCGAAATGCTCC 0.602000 4 29 0 0 1 0 0 ANO8 57719 broad.mit.edu 37 19 17439147 17439147 + Missense_Mutation SNP C C A TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr19:17439147C>A ENST00000159087.4 - 13 2208 c.2050G>T c.(2050-2052)Ggc>Tgc p.G684C NM_020959.2 NP_066010.1 Q9HCE9 ANO8_HUMAN anoctamin 8 684 chloride channel complex chloride channel activity autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3) 27 CGGCCCTCGCCCCCGGCCCGG 0.741000 3 6 1 1 1 1 0 PKD1 5310 broad.mit.edu 37 16 2159887 2159887 + Missense_Mutation SNP C C T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr16:2159887C>T ENST00000262304.4 - 15 5489 c.5281G>A c.(5281-5283)Gag>Aag p.E1761K PKD1_ENST00000423118.1_Missense_Mutation_p.E1761K NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 1761 PKD 13. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TCGGAGGTCTCCCAGCTCAGC 0.632000 7 40 0 0 1 0 0 KIAA1755 85449 broad.mit.edu 37 20 36869477 36869477 + Silent SNP G G A TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr20:36869477G>A ENST00000279024.4 - 3 1327 c.1056C>T c.(1054-1056)ttC>ttT p.F352F NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 352 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) CCTTTCTCCTGAAGCCCAAAT 0.527000 42 336 0 0 1 0 0 GPR148 344561 broad.mit.edu 37 2 131487607 131487607 + Missense_Mutation SNP G G A rs76455422 TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr2:131487607G>A ENST00000309926.4 + 1 965 c.883G>A c.(883-885)Ggg>Agg p.G295R NM_207364.2 NP_997247.2 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 295 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1) 27 Colorectal(110;0.1) CATTGACTCTGGGACTCACAC 0.562000 10 89 0 0 1 0 0 TRIM13 10206 broad.mit.edu 37 13 50586862 50586862 + Missense_Mutation SNP C C G TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr13:50586862C>G ENST00000378182.3 + 2 1524 c.786C>G c.(784-786)atC>atG p.I262M TRIM13_ENST00000298772.5_Missense_Mutation_p.I265M|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000420995.2_Missense_Mutation_p.I262M|TRIM13_ENST00000356017.4_Missense_Mutation_p.I265M|TRIM13_ENST00000457662.2_Missense_Mutation_p.I262M NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1 NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1 O60858 TRI13_HUMAN tripartite motif containing 13 262 anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination cytoplasm|endoplasmic reticulum membrane|integral to membrane protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205) TCAAAGTAATCAAGGAAACTC 0.403000 24 90 0 0 1 0 0 NCBP2 22916 broad.mit.edu 37 3 196669324 196669324 + Silent SNP C C T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr3:196669324C>T ENST00000321256.5 - 1 144 c.51G>A c.(49-51)ctG>ctA p.L17L NCBP2-AS1_ENST00000447775.1_RNA|NCBP2_ENST00000427641.2_Silent_p.L17L NM_007362.3 NP_031388.2 P52298 NCBP2_HUMAN nuclear cap binding protein subunit 2, 20kDa 17 gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm nucleotide binding|protein binding|RNA 7-methylguanosine cap binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00551) GGTACTGGCTCAGCTCCACGT 0.652000 OREG0016012 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 23 0 0 1 0 0 NOB1 28987 broad.mit.edu 37 16 69783174 69783174 + Missense_Mutation SNP G G C TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr16:69783174G>C ENST00000268802.5 - 5 496 c.467C>G c.(466-468)tCc>tGc p.S156C NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 156 nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GAACATGAAGGAACTAAATTC 0.438000 16 116 0 0 1 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659591 24659591 + RNA SNP A A G TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr22:24659591A>G ENST00000414583.2 + 0 3116 NR_003714.1 ACTCACTGACATCGAAGGCTG 0.632000 5 30 0 0 1 0 0 ZFP64 55734 broad.mit.edu 37 20 50769807 50769807 + Silent SNP G G A rs143459892 TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr20:50769807G>A ENST00000216923.4 - 6 1273 c.924C>T c.(922-924)atC>atT p.I308I ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Silent_p.I254I|ZFP64_ENST00000371515.4_Silent_p.I306I NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 308 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 CGCTGTGCTTGATACGGATGT 0.572000 14 111 0 0 1 0 0 ORAI1 84876 broad.mit.edu 37 12 122079387 122079387 + Silent SNP G G C TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr12:122079387G>C ENST00000330079.7 + 2 943 c.750G>C c.(748-750)ctG>ctC p.L250L NM_032790.3 NP_116179.2 Q96D31 CRCM1_HUMAN ORAI calcium release-activated calcium modulator 1 248 platelet activation|positive regulation of calcium ion transport integral to plasma membrane protein binding|store-operated calcium channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 11 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148) CCTTCGGCCTGATCTTTATCG 0.632000 22 79 0 0 1 0 0 NBPF18P 441908 broad.mit.edu 37 1 151992794 151992794 + RNA SNP T T C TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr1:151992794T>C ENST00000432386.1 + 0 2459 NR_103561.1 GCAGAGCAGCTTGGGCAAGCT 0.527000 57 145 0 0 1 0 0 CEP55 55165 broad.mit.edu 37 10 95276763 95276763 + Missense_Mutation SNP G G A TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr10:95276763G>A ENST00000371485.3 + 6 1055 c.751G>A c.(751-753)Gaa>Aaa p.E251K NM_001127182.1|NM_018131.4 NP_001120654.1|NP_060601.3 Q53EZ4 CEP55_HUMAN centrosomal protein 55kDa 251 cell division|mitosis centriole|cleavage furrow|midbody kidney(1)|large_intestine(5)|lung(6)|stomach(1) 13 Colorectal(252;0.207) TCTTGAGGTTGAACGACAAAC 0.358000 11 92 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35991318 35991318 + Silent SNP G G A TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr5:35991318G>A ENST00000274278.3 - 1 382 c.25C>T c.(25-27)Cta>Tta p.L9L UGT3A1_ENST00000333811.4_Intron|UGT3A1_ENST00000503189.1_Silent_p.L9L|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Silent_p.L9L NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 9 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAGGCCACTAGAAGCAGCACC 0.602000 21 151 0 0 1 0 0 DHX37 57647 broad.mit.edu 37 12 125455922 125455922 + Missense_Mutation SNP C C T rs139345740 TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr12:125455922C>T ENST00000308736.2 - 8 1215 c.1117G>A c.(1117-1119)Gag>Aag p.E373K DHX37_ENST00000544745.1_Missense_Mutation_p.E160K NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 373 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) TCGTGGGCCTCGTCGATGATC 0.657000 4 34 0 0 1 0 0 CCR3 1232 broad.mit.edu 37 3 46307214 46307214 + Missense_Mutation SNP G G C TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr3:46307214G>C ENST00000357422.2 + 4 1108 c.565G>C c.(565-567)Gag>Cag p.E189Q CCR3_ENST00000541018.1_Missense_Mutation_p.E189Q|CCR3_ENST00000395940.2_Missense_Mutation_p.E189Q|CCR3_ENST00000395942.2_Missense_Mutation_p.E189Q|CCR3_ENST00000545097.1_Missense_Mutation_p.E210Q P51677 CCR3_HUMAN chemokine (C-C motif) receptor 3 189 cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) TCTTTACCCAGAGGATACAGT 0.478000 15 98 0 0 1 0 0 GOLGA7B 401647 broad.mit.edu 37 10 99623815 99623815 + Silent SNP C C G TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr10:99623815C>G ENST00000370602.1 + 3 332 c.267C>G c.(265-267)ctC>ctG p.L89L NM_001010917.2 NP_001010917.1 Q2TAP0 GOG7B_HUMAN golgin A7 family, member B 89 Golgi membrane endometrium(1)|large_intestine(3)|prostate(1) 5 TCATCTTCCTCTGCATGGAGA 0.617000 8 84 0 0 1 0 0 OR1M1 125963 broad.mit.edu 37 19 9203973 9203973 + Nonsense_Mutation SNP C C G TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr19:9203973C>G ENST00000429566.3 + 1 119 c.53C>G c.(52-54)tCa>tGa p.S18* NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CTGGGACTCTCAGAAAAGCCA 0.498000 11 77 0 0 1 0 0 POLB 5423 broad.mit.edu 37 8 42229169 42229169 + Silent SNP C C T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr8:42229169C>T ENST00000265421.4 + 14 1172 c.1002C>T c.(1000-1002)agC>agT p.S334S POLB_ENST00000538005.1_Silent_p.S180S|POLB_ENST00000521492.1_Silent_p.S53S NM_002690.2 NP_002681.1 P06746 DPOLB_HUMAN polymerase (DNA directed), beta 334 DNA-dependent DNA replication cytoplasm|nucleoplasm|spindle microtubule DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1) 16 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024) Cytarabine(DB00987) AGGACCGGAGCGAATGAGGCC 0.448000 DNA polymerases (catalytic subunits) 4 44 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5445209 5445209 + Silent SNP C C G TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr17:5445209C>G ENST00000345221.3 - 6 3221 c.2667G>C c.(2665-2667)ctG>ctC p.L889L NLRP1_ENST00000269280.4_Silent_p.L889L|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Silent_p.L889L|NLRP1_ENST00000577119.1_Silent_p.L889L|NLRP1_ENST00000572272.1_Silent_p.L889L|NLRP1_ENST00000262467.5_Silent_p.L889L NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 889 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) TCGGCTGTCTCAGTCTCTGGC 0.587000 5 59 0 0 1 0 0 TAF4 6874 broad.mit.edu 37 20 60587884 60587884 + Missense_Mutation SNP G G A TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr20:60587884G>A ENST00000252996.3 - 3 1627 c.1628C>T c.(1627-1629)tCg>tTg p.S543L NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa 543 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) GACGCCGGGCGAGCGCTGCAG 0.577000 20 128 0 0 1 0 0 C5orf38 153571 broad.mit.edu 37 5 2755183 2755183 + Missense_Mutation SNP C C T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr5:2755183C>T ENST00000397835.4 + 3 374 c.374C>T c.(373-375)tCa>tTa p.S125L C5orf38_ENST00000334000.3_3'UTR|C5orf38_ENST00000457752.2_3'UTR|C5orf38_ENST00000505778.1_3'UTR Q86SI9 CEI_HUMAN chromosome 5 open reading frame 38 0 extracellular region endometrium(2)|large_intestine(1)|lung(1) 4 GBM - Glioblastoma multiforme(108;0.205) ACGCAAGTTTCAGCGAGCGGG 0.582000 16 208 0 0 1 0 0 ACOXL 55289 broad.mit.edu 37 2 111666438 111666438 + Silent SNP G G A TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr2:111666438G>A ENST00000389811.4 + 11 1085 c.861G>A c.(859-861)ctG>ctA p.L287L ACOXL_ENST00000439055.1_Silent_p.L287L Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like 287 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 CCCTGCGGCTGATGCCCCACC 0.547000 12 120 0 0 1 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18753367 18753367 + Missense_Mutation SNP G G A TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr9:18753367G>A ENST00000380548.4 + 16 2417 c.2078G>A c.(2077-2079)tGc>tAc p.C693Y NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 693 TSP type-1 6. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) GACGTCTTCTGCAGCCACCTG 0.532000 7 18 0 0 1 0 0 ACP6 51205 broad.mit.edu 37 1 147124425 147124425 + Missense_Mutation SNP T T G TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr1:147124425T>G ENST00000392988.2 - 7 999 c.806A>C c.(805-807)cAt>cCt p.H269P ACP6_ENST00000369238.5_Intron Q9NPH0 PPA6_HUMAN acid phosphatase 6, lysophosphatidic 0 lipid metabolic process extracellular region|mitochondrion acid phosphatase activity|protein binding breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1) 16 all_hematologic(923;0.0276) TCAGCTTCCATGGAACCTGCA 0.483000 10 71 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261731 39261731 + Missense_Mutation SNP G G C TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 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 4 69 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98808826 98808826 + Missense_Mutation SNP C C T rs140404931 byFrequency TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr10:98808826C>T ENST00000266058.4 - 14 1596 c.1351G>A c.(1351-1353)Gca>Aca p.A451T SLIT1_ENST00000371070.4_Missense_Mutation_p.A451T|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 451 LRRCT 2. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) AGGAAGTCTGCCAGCCACTTG 0.592000 4 80 0 0 1 0 0 C3orf18 51161 broad.mit.edu 37 3 50602922 50602922 + Missense_Mutation SNP G G A rs113250784 TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr3:50602922G>A ENST00000357203.3 - 3 748 c.209C>T c.(208-210)aCg>aTg p.T70M C3orf18_ENST00000449241.1_Missense_Mutation_p.T70M|C3orf18_ENST00000426034.1_Missense_Mutation_p.T70M|C3orf18_ENST00000441239.1_Intron|C3orf18_ENST00000486175.1_Intron NM_016210.4 NP_057294.2 Q9UK00 CC018_HUMAN chromosome 3 open reading frame 18 70 integral to membrane p.T70M(1) lung(1)|pancreas(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207) GCCTATCACCGTGATGATCCC 0.532000 9 28 0 0 1 0 0 GOLIM4 27333 broad.mit.edu 37 3 167750483 167750483 + Missense_Mutation SNP T T C TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr3:167750483T>C ENST00000470487.1 - 9 1690 c.1001A>G c.(1000-1002)cAg>cGg p.Q334R GOLIM4_ENST00000309027.4_Missense_Mutation_p.Q306R NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 334 Glu-rich. transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CTCTTCCACCTGATGCTCCTC 0.537000 4 128 0 0 1 0 0 FKBP11 51303 broad.mit.edu 37 12 49318025 49318025 + Missense_Mutation SNP G G C TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr12:49318025G>C ENST00000550765.1 - 4 696 c.298C>G c.(298-300)Ctt>Gtt p.L100V CCDC65_ENST00000266984.5_Intron|FKBP11_ENST00000453172.2_Missense_Mutation_p.L100V|FKBP11_ENST00000444214.2_5'UTR|ARF3_ENST00000398092.4_Intron|FKBP11_ENST00000552878.1_Missense_Mutation_p.L100V|AC073610.5_ENST00000537495.1_Intron NM_016594.2 NP_057678.1 Q9NYL4 FKB11_HUMAN FK506 binding protein 11, 19 kDa 100 PPIase FKBP-type. protein folding integral to membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity kidney(1)|large_intestine(3)|lung(1) 5 ATGTCGAGAAGACTCTGCTCC 0.527000 5 28 0 0 1 0 0 SPATA6 54558 broad.mit.edu 37 1 48825437 48825437 + Missense_Mutation SNP G G C TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr1:48825437G>C ENST00000371847.3 - 10 1079 c.915C>G c.(913-915)atC>atG p.I305M SPATA6_ENST00000396199.3_Missense_Mutation_p.I233M|SPATA6_ENST00000371843.3_Missense_Mutation_p.I305M NM_019073.2 NP_061946.1 Q9NWH7 SPAT6_HUMAN spermatogenesis associated 6 305 cell differentiation|multicellular organismal development|spermatogenesis extracellular region breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 21 GGGGTGTCCTGATAACCTGTT 0.348000 8 54 0 0 1 0 0 GNA15 2769 broad.mit.edu 37 19 3163005 3163005 + Missense_Mutation SNP C C G TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr19:3163005C>G ENST00000262958.3 + 7 1371 c.1113C>G c.(1111-1113)atC>atG p.I371M NM_002068.2 NP_002059.2 P30679 GNA15_HUMAN guanine nucleotide binding protein (G protein), alpha 15 (Gq class) 371 activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184) TGGACGAGATCAACCTGCTGT 0.652000 OREG0025150 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 38 0 0 1 0 0 SMCHD1 23347 broad.mit.edu 37 18 2775763 2775763 + Missense_Mutation SNP G G C TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr18:2775763G>C ENST00000320876.6 + 42 5545 c.5207G>C c.(5206-5208)aGa>aCa p.R1736T SMCHD1_ENST00000261598.8_Missense_Mutation_p.R1736T|RP11-703M24.5_ENST00000583546.1_RNA NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 1736 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 GAAGATGATAGAGCTGCGATG 0.353000 28 81 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr19:58385762C>G ENST00000435989.2 - 3 1230 c.996G>C c.(994-996)tcG>tcC p.S332S ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 332 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.S332S(2) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 ATTTGCTAAACGATTTCCCAC 0.358000 3 8 0 0 1 0 0 HARBI1 283254 broad.mit.edu 37 11 46625092 46625092 + Silent SNP A A G TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr11:46625092A>G ENST00000326737.3 - 3 1285 c.1038T>C c.(1036-1038)acT>acC p.T346T NM_173811.3 NP_776172.1 Q96MB7 HARB1_HUMAN harbinger transposase derived 1 346 cytoplasm|nucleus metal ion binding|nuclease activity large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1) 3 AGCTAAAATGAGTGAGCATTA 0.493000 14 93 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55782741 55782741 + Missense_Mutation SNP C C T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr10:55782741C>T ENST00000373965.2 - 20 2852 c.2458G>A c.(2458-2460)Gat>Aat p.D820N PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.D791N|PCDH15_ENST00000414778.1_Missense_Mutation_p.D818N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.D742N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.D776N|PCDH15_ENST00000409834.1_Missense_Mutation_p.D424N|PCDH15_ENST00000395445.1_Missense_Mutation_p.D820N|PCDH15_ENST00000373955.1_Missense_Mutation_p.D813N|PCDH15_ENST00000395438.1_Missense_Mutation_p.D813N|PCDH15_ENST00000361849.3_Missense_Mutation_p.D813N|PCDH15_ENST00000395430.1_Missense_Mutation_p.D813N|PCDH15_ENST00000320301.6_Missense_Mutation_p.D813N NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 813 Cadherin 8. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CTGTTATCATCAATGTCCAAA 0.443000 HNSCC(58;0.16) 22 146 0 0 1 0 0 EML2 24139 broad.mit.edu 37 19 46133232 46133232 + Missense_Mutation SNP C C G TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr19:46133232C>G ENST00000536630.1 - 10 1162 c.1024G>C c.(1024-1026)Gag>Cag p.E342Q EML2_ENST00000586902.1_5'UTR|EML2_ENST00000589876.1_Missense_Mutation_p.E195Q|EML2_ENST00000245925.3_Missense_Mutation_p.E195Q|EML2_ENST00000587152.1_Missense_Mutation_p.E396Q NM_001193269.1 NP_001180198.1 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 2 195 sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1) 31 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) ACCTTGGTCTCCTTGGCCCAG 0.547000 5 49 0 0 1 0 0 RHBDF1 64285 broad.mit.edu 37 16 112635 112635 + Missense_Mutation SNP G G A rs143220179 TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr16:112635G>A ENST00000262316.6 - 7 996 c.854C>T c.(853-855)tCg>tTg p.S285L RHBDF1_ENST00000454039.2_Missense_Mutation_p.S285L NM_022450.3 NP_071895.3 Q96CC6 RHDF1_HUMAN rhomboid 5 homolog 1 (Drosophila) 285 cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane growth factor binding|serine-type endopeptidase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 18 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) CGCTGCCTCCGATGGGGACTC 0.617000 31 284 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63928252 63928252 + Missense_Mutation SNP C C A TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr15:63928252C>A ENST00000443617.2 - 65 12409 c.12322G>T c.(12322-12324)Gat>Tat p.D4108Y NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 4108 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 TAGTCACCATCTCCCCAGCTA 0.557000 44 237 1.57945e-13 1.7374e-13 1 1 0 KANSL1L 151050 broad.mit.edu 37 2 211018364 211018364 + Missense_Mutation SNP G G A TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr2:211018364G>A ENST00000281772.9 - 2 1206 c.943C>T c.(943-945)Cgg>Tgg p.R315W KANSL1L_ENST00000418791.1_Missense_Mutation_p.R315W|KANSL1L_ENST00000452086.1_Missense_Mutation_p.R315W|KANSL1L_ENST00000457374.1_Missense_Mutation_p.R315W NM_152519.2 NP_689732.2 A0AUZ9 CB067_HUMAN KAT8 regulatory NSL complex subunit 1-like 315 GCTGTACACCGTGCAAAGCCA 0.413000 7 220 0 0 1 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37730676 37730676 + Silent SNP C C T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr8:37730676C>T ENST00000330843.4 - 4 1656 c.1644G>A c.(1642-1644)gcG>gcA p.A548A RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 548 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CTGTGGGTTGCGCCTCTGGAG 0.502000 13 85 0 0 1 0 0 TGOLN2 10618 broad.mit.edu 37 2 85554339 85554339 + Silent SNP C C T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr2:85554339C>T ENST00000377386.3 - 2 978 c.516G>A c.(514-516)gcG>gcA p.A172A TGOLN2_ENST00000444342.2_Silent_p.A172A|TGOLN2_ENST00000282120.2_Silent_p.A74A|TGOLN2_ENST00000409015.1_Silent_p.A172A|TGOLN2_ENST00000398263.2_Silent_p.A172A|TGOLN2_ENST00000409232.3_Silent_p.A172A O43493 TGON2_HUMAN trans-golgi network protein 2 172 14 X 14 AA tandem repeats. integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding TTGTGGTCTGCGCCTCCGAAC 0.602000 7 861 0 0 1 0 0 KMT2E 55904 broad.mit.edu 37 7 104703816 104703816 + Missense_Mutation SNP C C T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr7:104703816C>T ENST00000334877.4 + 5 739 c.205C>T c.(205-207)Cgt>Tgt p.R69C KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000476671.1_Missense_Mutation_p.R69C|KMT2E_ENST00000311117.3_Missense_Mutation_p.R69C|KMT2E_ENST00000257745.4_Missense_Mutation_p.R69C lysine (K)-specific methyltransferase 2E TTATGGTGCTCGTCCTCCTCC 0.353000 8 61 0 0 1 0 0 LPHN1 22859 broad.mit.edu 37 19 14288488 14288488 + Missense_Mutation SNP C C T TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr19:14288488C>T ENST00000340736.6 - 3 436 c.139G>A c.(139-141)Gag>Aag p.E47K LPHN1_ENST00000361434.3_Missense_Mutation_p.E47K NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 47 SUEL-type lectin. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CACCGCAGCTCGATGGGGTAG 0.647000 36 111 0 0 1 0 0 LOC102723924 102723924 broad.mit.edu 37 1 41730645 41730645 + RNA DEL T T - rs35691145 TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr1:41730645delT ENST00000445073.1 + 0 132 TCTGAGCTGCttttttttttt 0.473 3 4 --- --- --- --- CDC7 8317 broad.mit.edu 37 1 91967356 91967357 + Frame_Shift_Ins INS - - A TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr1:91967356_91967357insA ENST00000428239.1 + 2 342_343 c.83_84insA c.(82-84)taafs p.*28fs CDC7_ENST00000234626.6_Frame_Shift_Ins_p.*28fs|CDC7_ENST00000430031.2_Frame_Shift_Ins_p.*28fs|CDC7_ENST00000497611.1_3'UTR NM_001134420.1 NP_001127892.1 O00311 CDC7_HUMAN cell division cycle 7 28 cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2) 23 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) GAAGGCTCTTTAAAAAAAAACG 0.406 7 163 --- --- --- --- CDC25A 993 broad.mit.edu 37 3 48200922 48200923 + Frame_Shift_Del DEL TC TC - TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr3:48200922_48200923delTC ENST00000302506.3 - 14 1753_1754 c.1345_1346delGA c.(1345-1347)tfs p.D449fs CDC25A_ENST00000351231.3_Frame_Shift_Del_p.D409fs NM_001789.2 NP_001780.2 P30304 MPIP1_HUMAN cell division cycle 25A 449 Rhodanese. cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) ACCCAGGCGATCTCTCTCTCTC 0.515 7 125 --- --- --- --- FOXB2 442425 broad.mit.edu 37 9 79635062 79635064 + In_Frame_Del DEL GCC GCC - TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr9:79635062_79635064delGCC ENST00000376708.1 + 1 492_494 c.492_494delGCC c.(490-495)cag>ca p.QP164del NM_001013735.1 NP_001013757.1 Q5VYV0 FOXB2_HUMAN forkhead box B2 164 Poly-Pro. brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|lung(8)|ovary(1) 10 accCACCCCAgccgccgccgccg 0.704 3 6 --- --- --- --- RP11-114H23.1 0 broad.mit.edu 37 12 75994146 75994146 + RNA DEL G G - TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr12:75994146delG ENST00000552856.1 - 0 549 TCTGAATATAGGGATGACACA 0.408 2 4 --- --- --- --- SRP54-AS1 100506157 broad.mit.edu 37 14 35390295 35390296 + RNA INS - - T rs113610910 TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr14:35390295_35390296insT ENST00000556355.1 - 0 524 CACATATTGCAttttttttttt 0.436 3 3 --- --- --- --- B2M 567 broad.mit.edu 37 15 45007773 45007773 + Frame_Shift_Del DEL T T - TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr15:45007773delT ENST00000558401.1 + 2 290 c.220delT c.(220-222)tgfs p.L74fs B2M_ENST00000559220.1_Intron|B2M_ENST00000544417.1_Frame_Shift_Del_p.L74fs|B2M_ENST00000559916.1_Frame_Shift_Del_p.L74fs NM_004048.2 NP_004039.1 P61769 B2MG_HUMAN beta-2-microglobulin 74 Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction early endosome membrane|Golgi membrane|MHC class I protein complex protein binding p.K61_L74del(1) breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 59 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) GCATTCAGACTTGTCTTTCAG 0.413 19 132 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 5 8 --- --- --- --- HRH3 11255 broad.mit.edu 37 20 60791100 60791100 + Frame_Shift_Del DEL T T - TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d784bd4-0097-4aff-8e09-d29159fc0d46 b902c50b-2be0-45db-b315-afc7a2e5cb77 g.chr20:60791100delT ENST00000340177.5 - 3 1584 c.1300delA c.(1300-1302)tcfs p.I434fs HRH3_ENST00000317393.6_Frame_Shift_Del_p.I434fs NM_007232.2 NP_009163.2 Q9Y5N1 HRH3_HUMAN histamine receptor H3 434 G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion integral to plasma membrane histamine receptor activity breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 9 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;7.08e-07) Histamine Phosphate(DB00667) TGGGGCTGGATTTTGAGCTTC 0.647 2 4 --- --- --- ---